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Background  A large number of human inherited and acquired diseases and phenotypes are caused by mutations in G protein-coupled receptors (GPCR). Genome-wide association studies (GWAS) have shown that variations in the  ADGRD1  ( GPR133 ) locus are linked with differences in metabolism, human height and heart frequency. ADGRD1 is a G s  protein-coupled receptor belonging to the class of adhesion GPCRs.    Results  Analysis of more than 1000 sequenced human genomes revealed approximately 9000 single nucleotide polymorphisms (SNPs) in the human  ADGRD1  as listed in public data bases. Approximately 2.4 % of these SNPs are located in exons resulting in 129 non-synonymous SNPs (nsSNPs) at 119 positions of  ADGRD1 . However, the functional relevance of those variants is unknown. In-depth characterization of these amino acid changes revealed several nsSNPs (A448D, Q600stop, C632fs [frame shift], A761E, N795K) causing full or partial loss of receptor function, while one nsSNP (F383S) significantly increased basal activity of ADGRD1.    Conclusion  Our results show that a broad spectrum of functionally relevant  ADGRD1  variants is present in the human population which may cause clinically relevant phenotypes, while being compatible with life when heterozygous.    Electronic supplementary material  The online version of this article (doi:10.1186/s12864-016-2937-2) contains supplementary material, which is available to authorized users.

Functional relevance of naturally occurring mutations in adhesion G protein-coupled receptor ADGRD1 (GPR133)