|Institutional Source||Beutler Lab|
|Gene Name||G protein-coupled receptor, family C, group 5, member A|
|Synonyms||Raig1, Rai3, Gprc5a|
|Is this an essential gene?||Probably non essential (E-score: 0.070)|
|Stock #||R5488 (G1)|
|Chromosomal Location||135065651-135084709 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 135078870 bp|
|Amino Acid Change||Valine to Alanine at position 105 (V105A)|
|Ref Sequence||ENSEMBL: ENSMUSP00000061062 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000050104]|
|Predicted Effect||probably damaging
AA Change: V105A
PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
AA Change: V105A
|Meta Mutation Damage Score||0.0728|
|Coding Region Coverage||
|Validation Efficiency||97% (58/60)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the type 3 G protein-coupling receptor family, characterized by the signature 7-transmembrane domain motif. The encoded protein may be involved in interaction between retinoid acid and G protein signalling pathways. Retinoic acid plays a critical role in development, cellular growth, and differentiation. This gene may play a role in embryonic development and epithelial cell differentiation. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for one knock-out allele are healthy and exhibit normal lung development and a normal life span. Mice homozygous for a different knock-out allele show a significantly increased incidence of acidophilic macrophage pneumonia and spontaneouslung tumors at 1-2 years of age. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Gprc5a||
(F):5'- ATCGCGTTGGAAACACTGGC -3'
(R):5'- CATTGACGTTGGTCCTGTTC -3'
(F):5'- TTGGAAACACTGGCTGCCG -3'
(R):5'- CCTGTTCATGGTGAGGACC -3'