|Institutional Source||Beutler Lab|
|Gene Name||G protein-coupled receptor, family C, group 6, member A|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R3978 (G1)|
|Chromosomal Location||51614823-51631461 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to A at 51621101 bp (GRCm38)|
|Amino Acid Change||Valine to Leucine at position 449 (V449L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000020062 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000020062] [ENSMUST00000218684] [ENSMUST00000219286]|
AA Change: V449L
PolyPhen 2 Score 0.184 (Sensitivity: 0.92; Specificity: 0.87)
AA Change: V449L
AA Change: V274L
PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|Meta Mutation Damage Score||0.1205|
|Coding Region Coverage||
|Validation Efficiency||100% (65/65)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Members of family C of the G protein-coupled receptor (GPCR) superfamily, such as GPRC6A, are characterized by an evolutionarily conserved amino acid-sensing motif linked to an intramembranous 7-transmembrane loop region. Several members of GPCR family C, including GPRC6A, also have a long N-terminal domain (summary by Pi et al., 2005 [PubMed 16199532]).[supplied by OMIM, Nov 2010]
PHENOTYPE: Mice homozygous for a knock-out allele show a metabolic syndrome characterized by impaired bone mineralization, increased fat mass, abnormal renal handling of calcium and phosphorus, fatty liver, glucose intolerance, testicular feminization and abnormal steroidogenesis. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Gprc6a||
(F):5'- ATTCTGCAAAACAGCCTAGGAC -3'
(R):5'- AGGTGGGACTCTTTCTTAAACTG -3'
(F):5'- GGACAAAAATCACCTTAAGTTTCCTG -3'
(R):5'- GGAGATGCAGTGTCTTCA -3'