Incidental Mutation 'R2229:Gprc6a'
| ID |
239614 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gprc6a
|
| Ensembl Gene |
ENSMUSG00000019905 |
| Gene Name |
G protein-coupled receptor, family C, group 6, member A |
| Synonyms |
|
| MMRRC Submission |
040230-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2229 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
51614823-51631461 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 51626795 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 324
(V324A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151341
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020062]
[ENSMUST00000218684]
[ENSMUST00000219286]
|
| AlphaFold |
Q8K4Z6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000020062
AA Change: V324A
PolyPhen 2
Score 0.503 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000020062
Gene: ENSMUSG00000019905
AA Change: V324A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
Pfam:ANF_receptor
|
73 |
482 |
2.3e-62 |
PFAM |
|
Pfam:NCD3G
|
519 |
572 |
5.9e-18 |
PFAM |
|
Pfam:7tm_3
|
600 |
838 |
2e-49 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218684
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000219286
AA Change: V324A
PolyPhen 2
Score 0.503 (Sensitivity: 0.88; Specificity: 0.90)
|
| Meta Mutation Damage Score |
0.6637 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
99% (78/79) |
| MGI Phenotype |
Strain: 3831176
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 |
All alleles(4) : Targeted(4)
|
| Other mutations in this stock |
Total: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam24 |
A |
T |
8: 40,680,365 (GRCm38) |
I291L |
probably benign |
Het |
| Adcy8 |
C |
A |
15: 64,822,207 (GRCm38) |
R407L |
possibly damaging |
Het |
| Adgb |
A |
T |
10: 10,436,051 (GRCm38) |
V212E |
probably damaging |
Het |
| Adgrg7 |
C |
T |
16: 56,752,403 (GRCm38) |
S350N |
probably benign |
Het |
| Agbl1 |
A |
G |
7: 76,433,378 (GRCm38) |
T448A |
probably benign |
Het |
| Aldh1l1 |
C |
G |
6: 90,583,186 (GRCm38) |
T605R |
probably damaging |
Het |
| Arfip1 |
A |
T |
3: 84,547,973 (GRCm38) |
N18K |
probably damaging |
Het |
| Atp6v1b2 |
C |
A |
8: 69,102,759 (GRCm38) |
|
probably null |
Het |
| Banp |
G |
A |
8: 121,978,685 (GRCm38) |
S98N |
probably damaging |
Het |
| Btnl9 |
T |
C |
11: 49,169,118 (GRCm38) |
D601G |
probably damaging |
Het |
| C9 |
T |
C |
15: 6,445,420 (GRCm38) |
I20T |
possibly damaging |
Het |
| Cacna1b |
A |
G |
2: 24,685,804 (GRCm38) |
V744A |
probably damaging |
Het |
| Catsper3 |
A |
G |
13: 55,808,054 (GRCm38) |
E311G |
probably damaging |
Het |
| Ccdc180 |
G |
T |
4: 45,948,856 (GRCm38) |
|
probably null |
Het |
| Cdc5l |
A |
G |
17: 45,407,846 (GRCm38) |
Y615H |
probably benign |
Het |
| Crybg2 |
TGGAGGAGGAGGAGGAGGAG |
TGGAGGAGGAGGAGGAG |
4: 134,074,526 (GRCm38) |
|
probably benign |
Het |
| Eml4 |
C |
T |
17: 83,451,056 (GRCm38) |
P502S |
probably benign |
Het |
| Fsip1 |
T |
C |
2: 118,222,444 (GRCm38) |
E367G |
probably benign |
Het |
| Gja3 |
T |
C |
14: 57,036,714 (GRCm38) |
D67G |
probably damaging |
Het |
| Gm4894 |
T |
C |
9: 49,274,190 (GRCm38) |
|
probably benign |
Het |
| Gm7853 |
A |
G |
14: 36,089,527 (GRCm38) |
|
noncoding transcript |
Het |
| Gmps |
T |
G |
3: 64,014,263 (GRCm38) |
Y562* |
probably null |
Het |
| Golga2 |
C |
A |
2: 32,306,465 (GRCm38) |
P976T |
probably benign |
Het |
| Gpr182 |
T |
A |
10: 127,750,141 (GRCm38) |
I314F |
possibly damaging |
Het |
| Gykl1 |
A |
G |
18: 52,695,267 (GRCm38) |
T516A |
probably benign |
Het |
| Hist2h2ab |
T |
C |
3: 96,220,106 (GRCm38) |
L64P |
possibly damaging |
Het |
| Ifit1bl2 |
G |
T |
19: 34,619,230 (GRCm38) |
L329M |
possibly damaging |
Het |
| Igsf9b |
T |
C |
9: 27,333,496 (GRCm38) |
S920P |
probably damaging |
Het |
| Kif3c |
T |
A |
12: 3,366,671 (GRCm38) |
S231T |
probably benign |
Het |
| Kpna7 |
A |
T |
5: 144,989,697 (GRCm38) |
Y482N |
probably damaging |
Het |
| Lmnb2 |
T |
C |
10: 80,904,392 (GRCm38) |
|
probably benign |
Het |
| Lrrc69 |
T |
C |
4: 14,773,694 (GRCm38) |
S121G |
probably benign |
Het |
| Mppe1 |
A |
G |
18: 67,228,011 (GRCm38) |
|
probably null |
Het |
| Muc5b |
T |
A |
7: 141,861,644 (GRCm38) |
C2776S |
possibly damaging |
Het |
| Myh8 |
T |
G |
11: 67,308,348 (GRCm38) |
N1893K |
probably damaging |
Het |
| Myo7a |
T |
C |
7: 98,054,910 (GRCm38) |
T1932A |
probably benign |
Het |
| Nbn |
A |
G |
4: 15,970,904 (GRCm38) |
T296A |
probably benign |
Het |
| Nckap1l |
T |
C |
15: 103,455,934 (GRCm38) |
|
probably null |
Het |
| Nek5 |
A |
T |
8: 22,113,632 (GRCm38) |
N151K |
possibly damaging |
Het |
| Nup93 |
C |
T |
8: 94,304,191 (GRCm38) |
T305I |
probably benign |
Het |
| Oca2 |
T |
A |
7: 56,357,155 (GRCm38) |
H663Q |
probably benign |
Het |
| Optn |
T |
A |
2: 5,024,117 (GRCm38) |
H525L |
probably damaging |
Het |
| Pdzph1 |
A |
G |
17: 58,932,412 (GRCm38) |
|
probably benign |
Het |
| Pikfyve |
A |
G |
1: 65,267,855 (GRCm38) |
K1801E |
probably damaging |
Het |
| Pkd2l2 |
G |
A |
18: 34,430,329 (GRCm38) |
V478M |
probably damaging |
Het |
| Pmepa1 |
G |
A |
2: 173,228,133 (GRCm38) |
R210W |
probably damaging |
Het |
| Ppp1r3c |
C |
A |
19: 36,733,698 (GRCm38) |
R224L |
probably benign |
Het |
| Prpf19 |
A |
G |
19: 10,897,598 (GRCm38) |
T39A |
probably benign |
Het |
| Pwwp2b |
T |
C |
7: 139,255,188 (GRCm38) |
C182R |
probably damaging |
Het |
| Rcan3 |
T |
C |
4: 135,425,377 (GRCm38) |
D11G |
probably benign |
Het |
| Rgsl1 |
C |
A |
1: 153,822,358 (GRCm38) |
W482L |
possibly damaging |
Het |
| Sfxn4 |
C |
T |
19: 60,851,020 (GRCm38) |
G200E |
probably damaging |
Het |
| Slc4a8 |
T |
C |
15: 100,809,299 (GRCm38) |
I848T |
probably damaging |
Het |
| Slc7a13 |
T |
C |
4: 19,839,399 (GRCm38) |
V334A |
probably benign |
Het |
| Smarcc2 |
A |
G |
10: 128,488,341 (GRCm38) |
|
probably benign |
Het |
| Spata18 |
A |
T |
5: 73,666,901 (GRCm38) |
I156L |
possibly damaging |
Het |
| Spats2 |
T |
C |
15: 99,174,453 (GRCm38) |
|
probably null |
Het |
| Tas2r104 |
G |
A |
6: 131,685,132 (GRCm38) |
H205Y |
probably damaging |
Het |
| Tcof1 |
A |
G |
18: 60,832,177 (GRCm38) |
|
probably benign |
Het |
| Tex15 |
C |
A |
8: 33,571,237 (GRCm38) |
H232N |
probably benign |
Het |
| Tg |
A |
T |
15: 66,674,011 (GRCm38) |
Q194L |
probably damaging |
Het |
| Tnfrsf22 |
C |
T |
7: 143,644,776 (GRCm38) |
|
probably null |
Het |
| Trim25 |
T |
A |
11: 89,016,621 (GRCm38) |
V602E |
probably damaging |
Het |
| Ttll9 |
A |
G |
2: 152,983,063 (GRCm38) |
E54G |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,729,324 (GRCm38) |
T29578A |
probably damaging |
Het |
| Tubgcp5 |
A |
G |
7: 55,830,881 (GRCm38) |
Q960R |
probably damaging |
Het |
| Ugcg |
C |
T |
4: 59,207,798 (GRCm38) |
P46S |
probably benign |
Het |
| Usp13 |
A |
G |
3: 32,917,551 (GRCm38) |
I727V |
probably benign |
Het |
| Vmn2r67 |
T |
A |
7: 85,152,042 (GRCm38) |
I229F |
probably benign |
Het |
| Vmn2r92 |
A |
C |
17: 18,167,392 (GRCm38) |
I220L |
probably benign |
Het |
| Wnk4 |
T |
A |
11: 101,275,641 (GRCm38) |
|
probably benign |
Het |
| Wwp1 |
A |
T |
4: 19,641,745 (GRCm38) |
Y437N |
probably damaging |
Het |
| Zdhhc5 |
A |
G |
2: 84,690,213 (GRCm38) |
I540T |
probably damaging |
Het |
| Zfp729b |
T |
C |
13: 67,595,265 (GRCm38) |
I60M |
probably damaging |
Het |
|
| Other mutations in Gprc6a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01361:Gprc6a
|
APN |
10 |
51,615,430 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01640:Gprc6a
|
APN |
10 |
51,627,084 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL02122:Gprc6a
|
APN |
10 |
51,626,723 (GRCm38) |
missense |
probably benign |
|
|
IGL02317:Gprc6a
|
APN |
10 |
51,620,953 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL02995:Gprc6a
|
APN |
10 |
51,626,799 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03229:Gprc6a
|
APN |
10 |
51,616,603 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03256:Gprc6a
|
APN |
10 |
51,628,349 (GRCm38) |
missense |
possibly damaging |
0.77 |
|
IGL03290:Gprc6a
|
APN |
10 |
51,615,872 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03393:Gprc6a
|
APN |
10 |
51,615,259 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0040:Gprc6a
|
UTSW |
10 |
51,614,984 (GRCm38) |
nonsense |
probably null |
|
|
R0040:Gprc6a
|
UTSW |
10 |
51,614,984 (GRCm38) |
nonsense |
probably null |
|
|
R0050:Gprc6a
|
UTSW |
10 |
51,615,389 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0050:Gprc6a
|
UTSW |
10 |
51,615,389 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1495:Gprc6a
|
UTSW |
10 |
51,628,437 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1831:Gprc6a
|
UTSW |
10 |
51,615,806 (GRCm38) |
missense |
probably benign |
0.22 |
|
R2108:Gprc6a
|
UTSW |
10 |
51,615,208 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2159:Gprc6a
|
UTSW |
10 |
51,615,680 (GRCm38) |
frame shift |
probably null |
|
|
R2160:Gprc6a
|
UTSW |
10 |
51,615,680 (GRCm38) |
frame shift |
probably null |
|
|
R2162:Gprc6a
|
UTSW |
10 |
51,615,680 (GRCm38) |
frame shift |
probably null |
|
|
R3009:Gprc6a
|
UTSW |
10 |
51,628,296 (GRCm38) |
missense |
probably benign |
0.02 |
|
R3709:Gprc6a
|
UTSW |
10 |
51,615,680 (GRCm38) |
frame shift |
probably null |
|
|
R3710:Gprc6a
|
UTSW |
10 |
51,615,680 (GRCm38) |
frame shift |
probably null |
|
|
R3737:Gprc6a
|
UTSW |
10 |
51,626,911 (GRCm38) |
missense |
probably benign |
|
|
R3914:Gprc6a
|
UTSW |
10 |
51,628,275 (GRCm38) |
missense |
probably benign |
0.00 |
|
R3918:Gprc6a
|
UTSW |
10 |
51,615,680 (GRCm38) |
frame shift |
probably null |
|
|
R3964:Gprc6a
|
UTSW |
10 |
51,615,680 (GRCm38) |
frame shift |
probably null |
|
|
R3965:Gprc6a
|
UTSW |
10 |
51,615,680 (GRCm38) |
frame shift |
probably null |
|
|
R3966:Gprc6a
|
UTSW |
10 |
51,615,680 (GRCm38) |
frame shift |
probably null |
|
|
R3973:Gprc6a
|
UTSW |
10 |
51,628,448 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R3977:Gprc6a
|
UTSW |
10 |
51,621,101 (GRCm38) |
missense |
probably benign |
0.18 |
|
R3978:Gprc6a
|
UTSW |
10 |
51,621,101 (GRCm38) |
missense |
probably benign |
0.18 |
|
R3979:Gprc6a
|
UTSW |
10 |
51,621,101 (GRCm38) |
missense |
probably benign |
0.18 |
|
R4306:Gprc6a
|
UTSW |
10 |
51,616,639 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4404:Gprc6a
|
UTSW |
10 |
51,628,543 (GRCm38) |
missense |
probably benign |
0.09 |
|
R4405:Gprc6a
|
UTSW |
10 |
51,628,543 (GRCm38) |
missense |
probably benign |
0.09 |
|
R4408:Gprc6a
|
UTSW |
10 |
51,628,543 (GRCm38) |
missense |
probably benign |
0.09 |
|
R4713:Gprc6a
|
UTSW |
10 |
51,631,457 (GRCm38) |
unclassified |
probably benign |
|
|
R4788:Gprc6a
|
UTSW |
10 |
51,615,008 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5248:Gprc6a
|
UTSW |
10 |
51,614,993 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5263:Gprc6a
|
UTSW |
10 |
51,626,804 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5436:Gprc6a
|
UTSW |
10 |
51,626,702 (GRCm38) |
missense |
probably benign |
|
|
R5721:Gprc6a
|
UTSW |
10 |
51,614,980 (GRCm38) |
missense |
probably benign |
0.06 |
|
R6061:Gprc6a
|
UTSW |
10 |
51,615,811 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6092:Gprc6a
|
UTSW |
10 |
51,615,077 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6132:Gprc6a
|
UTSW |
10 |
51,615,260 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R6162:Gprc6a
|
UTSW |
10 |
51,614,912 (GRCm38) |
missense |
probably benign |
0.44 |
|
R6207:Gprc6a
|
UTSW |
10 |
51,626,835 (GRCm38) |
missense |
probably benign |
0.36 |
|
R6497:Gprc6a
|
UTSW |
10 |
51,615,701 (GRCm38) |
missense |
probably benign |
0.05 |
|
R6717:Gprc6a
|
UTSW |
10 |
51,615,137 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6789:Gprc6a
|
UTSW |
10 |
51,631,316 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6807:Gprc6a
|
UTSW |
10 |
51,626,745 (GRCm38) |
nonsense |
probably null |
|
|
R7000:Gprc6a
|
UTSW |
10 |
51,615,047 (GRCm38) |
missense |
probably benign |
0.34 |
|
R7019:Gprc6a
|
UTSW |
10 |
51,631,412 (GRCm38) |
missense |
possibly damaging |
0.68 |
|
R7143:Gprc6a
|
UTSW |
10 |
51,614,890 (GRCm38) |
missense |
probably benign |
|
|
R7173:Gprc6a
|
UTSW |
10 |
51,628,499 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7579:Gprc6a
|
UTSW |
10 |
51,626,787 (GRCm38) |
missense |
probably benign |
|
|
R7736:Gprc6a
|
UTSW |
10 |
51,615,453 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R7920:Gprc6a
|
UTSW |
10 |
51,614,930 (GRCm38) |
missense |
probably benign |
0.02 |
|
R8273:Gprc6a
|
UTSW |
10 |
51,631,274 (GRCm38) |
missense |
probably benign |
|
|
R8329:Gprc6a
|
UTSW |
10 |
51,627,259 (GRCm38) |
nonsense |
probably null |
|
|
R8517:Gprc6a
|
UTSW |
10 |
51,631,241 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8723:Gprc6a
|
UTSW |
10 |
51,615,422 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8815:Gprc6a
|
UTSW |
10 |
51,620,983 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8829:Gprc6a
|
UTSW |
10 |
51,615,199 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9151:Gprc6a
|
UTSW |
10 |
51,621,086 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R9420:Gprc6a
|
UTSW |
10 |
51,615,410 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9753:Gprc6a
|
UTSW |
10 |
51,628,268 (GRCm38) |
missense |
probably benign |
0.20 |
|
R9766:Gprc6a
|
UTSW |
10 |
51,615,788 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9790:Gprc6a
|
UTSW |
10 |
51,615,299 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R9791:Gprc6a
|
UTSW |
10 |
51,615,299 (GRCm38) |
missense |
probably damaging |
0.98 |
|
Z1177:Gprc6a
|
UTSW |
10 |
51,615,209 (GRCm38) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCCAGAGGAAATCATTTCTCTTG -3'
(R):5'- TTGCAGAAGCCCAGGTTAATG -3'
Sequencing Primer
(F):5'- AGTGTCATAGGTCAAAGTTGCC -3'
(R):5'- CAGAAGCCCAGGTTAATGTCATTGTG -3'
|
| Posted On |
2014-10-15 |
Incidental Mutation