Incidental Mutation 'R1831:Gprc6a'
ID |
207339 |
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 |
039858-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1831 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
51490919-51507554 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 51491902 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 616
(T616A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000020062
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020062]
[ENSMUST00000218684]
[ENSMUST00000219286]
|
AlphaFold |
Q8K4Z6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000020062
AA Change: T616A
PolyPhen 2
Score 0.218 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000020062 Gene: ENSMUSG00000019905 AA Change: T616A
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
AA Change: T441A
PolyPhen 2
Score 0.087 (Sensitivity: 0.93; Specificity: 0.85)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000219286
AA Change: T545A
PolyPhen 2
Score 0.190 (Sensitivity: 0.92; Specificity: 0.87)
|
Coding Region Coverage |
- 1x: 97.5%
- 3x: 96.9%
- 10x: 95.2%
- 20x: 92.2%
|
Validation Efficiency |
|
MGI Phenotype |
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: 79 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700109H08Rik |
A |
G |
5: 3,627,255 (GRCm39) |
D77G |
probably damaging |
Het |
Adam1b |
A |
G |
5: 121,641,000 (GRCm39) |
I15T |
possibly damaging |
Het |
Arfgef1 |
G |
C |
1: 10,275,115 (GRCm39) |
I312M |
probably benign |
Het |
Capn8 |
G |
A |
1: 182,438,666 (GRCm39) |
|
probably null |
Het |
Carmil1 |
A |
T |
13: 24,348,862 (GRCm39) |
V15E |
probably benign |
Het |
Ccdc42 |
T |
A |
11: 68,481,805 (GRCm39) |
M133K |
probably benign |
Het |
Cd5 |
T |
C |
19: 10,696,933 (GRCm39) |
D485G |
probably damaging |
Het |
Cdhr18 |
A |
G |
14: 13,899,619 (GRCm38) |
I101T |
probably damaging |
Het |
Cep104 |
T |
A |
4: 154,087,003 (GRCm39) |
V842E |
probably benign |
Het |
Cep162 |
T |
A |
9: 87,088,985 (GRCm39) |
I966L |
probably damaging |
Het |
Cklf |
T |
C |
8: 104,977,687 (GRCm39) |
F13S |
probably damaging |
Het |
Csf2rb |
C |
T |
15: 78,232,453 (GRCm39) |
P587S |
probably benign |
Het |
Cyp21a1 |
A |
T |
17: 35,023,009 (GRCm39) |
|
probably benign |
Het |
Cyp26a1 |
A |
T |
19: 37,689,071 (GRCm39) |
L335F |
probably damaging |
Het |
Dcst1 |
A |
G |
3: 89,260,057 (GRCm39) |
F596L |
probably damaging |
Het |
Dennd6a |
T |
A |
14: 26,328,109 (GRCm39) |
L44H |
probably damaging |
Het |
Dnah6 |
G |
A |
6: 73,158,780 (GRCm39) |
R608C |
possibly damaging |
Het |
Dnajb5 |
A |
T |
4: 42,957,333 (GRCm39) |
T311S |
probably benign |
Het |
Dthd1 |
A |
G |
5: 62,984,572 (GRCm39) |
T426A |
probably benign |
Het |
Dync1h1 |
A |
G |
12: 110,580,493 (GRCm39) |
K118R |
probably damaging |
Het |
Efemp1 |
A |
T |
11: 28,871,442 (GRCm39) |
D347V |
possibly damaging |
Het |
Ephb4 |
T |
A |
5: 137,352,677 (GRCm39) |
Y87N |
probably damaging |
Het |
Ern1 |
A |
T |
11: 106,290,668 (GRCm39) |
|
probably null |
Het |
Fam184a |
A |
T |
10: 53,523,180 (GRCm39) |
D164E |
probably damaging |
Het |
Fkbp10 |
A |
G |
11: 100,314,045 (GRCm39) |
E351G |
probably damaging |
Het |
Fmn2 |
A |
G |
1: 174,437,511 (GRCm39) |
S1161G |
probably benign |
Het |
Frem1 |
A |
G |
4: 82,939,074 (GRCm39) |
S3P |
possibly damaging |
Het |
Gpr3 |
C |
T |
4: 132,938,454 (GRCm39) |
A73T |
possibly damaging |
Het |
Gtf3c2 |
G |
T |
5: 31,325,713 (GRCm39) |
Q452K |
probably damaging |
Het |
H2-Q7 |
C |
A |
17: 35,658,675 (GRCm39) |
S104R |
probably benign |
Het |
Hacd2 |
T |
C |
16: 34,922,434 (GRCm39) |
Y208H |
probably damaging |
Het |
Hid1 |
C |
T |
11: 115,239,729 (GRCm39) |
G734R |
probably damaging |
Het |
Ifi207 |
A |
G |
1: 173,559,992 (GRCm39) |
I160T |
unknown |
Het |
Itga11 |
T |
A |
9: 62,689,300 (GRCm39) |
L1155Q |
probably damaging |
Het |
Kmt2d |
A |
G |
15: 98,753,224 (GRCm39) |
S157P |
probably damaging |
Het |
Lamb3 |
A |
G |
1: 193,017,187 (GRCm39) |
T793A |
probably damaging |
Het |
Lonrf2 |
G |
A |
1: 38,852,357 (GRCm39) |
P165S |
probably benign |
Het |
Lrrc66 |
G |
A |
5: 73,764,769 (GRCm39) |
S758L |
possibly damaging |
Het |
Ltn1 |
C |
T |
16: 87,197,034 (GRCm39) |
S1213N |
possibly damaging |
Het |
Meak7 |
T |
C |
8: 120,497,992 (GRCm39) |
M171V |
probably null |
Het |
Med1 |
T |
C |
11: 98,047,437 (GRCm39) |
|
probably benign |
Het |
Megf6 |
C |
T |
4: 154,355,134 (GRCm39) |
T1483M |
probably benign |
Het |
Micall2 |
A |
G |
5: 139,702,508 (GRCm39) |
V245A |
probably benign |
Het |
Mipep |
T |
G |
14: 61,109,512 (GRCm39) |
Y630D |
probably damaging |
Het |
Ndst3 |
T |
A |
3: 123,395,127 (GRCm39) |
H501L |
probably benign |
Het |
Nek10 |
A |
T |
14: 14,842,789 (GRCm38) |
M165L |
probably benign |
Het |
Nmbr |
C |
A |
10: 14,642,609 (GRCm39) |
T56K |
probably benign |
Het |
Nxpe2 |
T |
A |
9: 48,237,452 (GRCm39) |
M268L |
probably benign |
Het |
Oasl2 |
A |
G |
5: 115,039,367 (GRCm39) |
Y185C |
probably benign |
Het |
Ogdhl |
T |
A |
14: 32,059,484 (GRCm39) |
V377E |
probably damaging |
Het |
Or11g1 |
T |
A |
14: 50,651,658 (GRCm39) |
|
probably null |
Het |
Or14j4 |
G |
A |
17: 37,920,730 (GRCm39) |
S304L |
possibly damaging |
Het |
Ovgp1 |
A |
G |
3: 105,892,384 (GRCm39) |
R346G |
probably benign |
Het |
Parp14 |
T |
A |
16: 35,678,958 (GRCm39) |
N337Y |
possibly damaging |
Het |
Pask |
A |
C |
1: 93,248,491 (GRCm39) |
|
probably null |
Het |
Pax3 |
G |
T |
1: 78,108,977 (GRCm39) |
T227K |
probably damaging |
Het |
Pik3r6 |
T |
A |
11: 68,434,860 (GRCm39) |
M594K |
probably benign |
Het |
Pms1 |
A |
G |
1: 53,246,370 (GRCm39) |
F390L |
probably benign |
Het |
Polg |
G |
A |
7: 79,109,518 (GRCm39) |
T433I |
probably benign |
Het |
Prex1 |
T |
C |
2: 166,427,021 (GRCm39) |
Y898C |
probably damaging |
Het |
Ranbp2 |
T |
A |
10: 58,315,044 (GRCm39) |
C1921* |
probably null |
Het |
Rif1 |
T |
A |
2: 51,968,507 (GRCm39) |
L230* |
probably null |
Het |
Rnf148 |
A |
G |
6: 23,654,772 (GRCm39) |
F75L |
probably damaging |
Het |
Rps18-ps6 |
A |
G |
13: 97,897,053 (GRCm39) |
V15A |
probably benign |
Het |
Sclt1 |
A |
G |
3: 41,681,546 (GRCm39) |
V91A |
probably damaging |
Het |
Sirt1 |
T |
C |
10: 63,156,425 (GRCm39) |
D735G |
probably benign |
Het |
Spag5 |
T |
A |
11: 78,205,082 (GRCm39) |
N622K |
probably benign |
Het |
Sspo |
T |
G |
6: 48,466,720 (GRCm39) |
C3935W |
probably damaging |
Het |
Strbp |
A |
G |
2: 37,515,277 (GRCm39) |
S250P |
possibly damaging |
Het |
Tgfbr2 |
T |
C |
9: 115,919,604 (GRCm39) |
T541A |
possibly damaging |
Het |
Thada |
A |
C |
17: 84,538,542 (GRCm39) |
S1489A |
probably damaging |
Het |
Tiam1 |
A |
T |
16: 89,657,182 (GRCm39) |
S685T |
probably benign |
Het |
Tpsb2 |
T |
A |
17: 25,585,494 (GRCm39) |
|
probably null |
Het |
Trip4 |
C |
A |
9: 65,765,622 (GRCm39) |
G359V |
probably damaging |
Het |
Tsr1 |
T |
C |
11: 74,791,182 (GRCm39) |
F254L |
probably benign |
Het |
Vmn1r120 |
T |
C |
7: 20,787,556 (GRCm39) |
K52E |
probably benign |
Het |
Vmn1r29 |
C |
A |
6: 58,284,692 (GRCm39) |
Y137* |
probably null |
Het |
Vmn2r52 |
T |
C |
7: 9,893,415 (GRCm39) |
K575E |
probably damaging |
Het |
Wdr95 |
A |
G |
5: 149,475,891 (GRCm39) |
Y63C |
probably damaging |
Het |
|
Other mutations in Gprc6a |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01361:Gprc6a
|
APN |
10 |
51,491,526 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01640:Gprc6a
|
APN |
10 |
51,503,180 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02122:Gprc6a
|
APN |
10 |
51,502,819 (GRCm39) |
missense |
probably benign |
|
IGL02317:Gprc6a
|
APN |
10 |
51,497,049 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02995:Gprc6a
|
APN |
10 |
51,502,895 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03229:Gprc6a
|
APN |
10 |
51,492,699 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03256:Gprc6a
|
APN |
10 |
51,504,445 (GRCm39) |
missense |
possibly damaging |
0.77 |
IGL03290:Gprc6a
|
APN |
10 |
51,491,968 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03393:Gprc6a
|
APN |
10 |
51,491,355 (GRCm39) |
missense |
probably damaging |
1.00 |
R0040:Gprc6a
|
UTSW |
10 |
51,491,080 (GRCm39) |
nonsense |
probably null |
|
R0040:Gprc6a
|
UTSW |
10 |
51,491,080 (GRCm39) |
nonsense |
probably null |
|
R0050:Gprc6a
|
UTSW |
10 |
51,491,485 (GRCm39) |
missense |
probably damaging |
1.00 |
R0050:Gprc6a
|
UTSW |
10 |
51,491,485 (GRCm39) |
missense |
probably damaging |
1.00 |
R1495:Gprc6a
|
UTSW |
10 |
51,504,533 (GRCm39) |
missense |
probably benign |
0.01 |
R2108:Gprc6a
|
UTSW |
10 |
51,491,304 (GRCm39) |
missense |
probably damaging |
1.00 |
R2159:Gprc6a
|
UTSW |
10 |
51,491,776 (GRCm39) |
frame shift |
probably null |
|
R2160:Gprc6a
|
UTSW |
10 |
51,491,776 (GRCm39) |
frame shift |
probably null |
|
R2162:Gprc6a
|
UTSW |
10 |
51,491,776 (GRCm39) |
frame shift |
probably null |
|
R2229:Gprc6a
|
UTSW |
10 |
51,502,891 (GRCm39) |
missense |
possibly damaging |
0.50 |
R3009:Gprc6a
|
UTSW |
10 |
51,504,392 (GRCm39) |
missense |
probably benign |
0.02 |
R3709:Gprc6a
|
UTSW |
10 |
51,491,776 (GRCm39) |
frame shift |
probably null |
|
R3710:Gprc6a
|
UTSW |
10 |
51,491,776 (GRCm39) |
frame shift |
probably null |
|
R3737:Gprc6a
|
UTSW |
10 |
51,503,007 (GRCm39) |
missense |
probably benign |
|
R3914:Gprc6a
|
UTSW |
10 |
51,504,371 (GRCm39) |
missense |
probably benign |
0.00 |
R3918:Gprc6a
|
UTSW |
10 |
51,491,776 (GRCm39) |
frame shift |
probably null |
|
R3964:Gprc6a
|
UTSW |
10 |
51,491,776 (GRCm39) |
frame shift |
probably null |
|
R3965:Gprc6a
|
UTSW |
10 |
51,491,776 (GRCm39) |
frame shift |
probably null |
|
R3966:Gprc6a
|
UTSW |
10 |
51,491,776 (GRCm39) |
frame shift |
probably null |
|
R3973:Gprc6a
|
UTSW |
10 |
51,504,544 (GRCm39) |
missense |
possibly damaging |
0.93 |
R3977:Gprc6a
|
UTSW |
10 |
51,497,197 (GRCm39) |
missense |
probably benign |
0.18 |
R3978:Gprc6a
|
UTSW |
10 |
51,497,197 (GRCm39) |
missense |
probably benign |
0.18 |
R3979:Gprc6a
|
UTSW |
10 |
51,497,197 (GRCm39) |
missense |
probably benign |
0.18 |
R4306:Gprc6a
|
UTSW |
10 |
51,492,735 (GRCm39) |
missense |
probably damaging |
1.00 |
R4404:Gprc6a
|
UTSW |
10 |
51,504,639 (GRCm39) |
missense |
probably benign |
0.09 |
R4405:Gprc6a
|
UTSW |
10 |
51,504,639 (GRCm39) |
missense |
probably benign |
0.09 |
R4408:Gprc6a
|
UTSW |
10 |
51,504,639 (GRCm39) |
missense |
probably benign |
0.09 |
R4713:Gprc6a
|
UTSW |
10 |
51,507,553 (GRCm39) |
unclassified |
probably benign |
|
R4788:Gprc6a
|
UTSW |
10 |
51,491,104 (GRCm39) |
missense |
probably benign |
0.00 |
R5248:Gprc6a
|
UTSW |
10 |
51,491,089 (GRCm39) |
missense |
probably damaging |
1.00 |
R5263:Gprc6a
|
UTSW |
10 |
51,502,900 (GRCm39) |
missense |
probably damaging |
1.00 |
R5436:Gprc6a
|
UTSW |
10 |
51,502,798 (GRCm39) |
missense |
probably benign |
|
R5721:Gprc6a
|
UTSW |
10 |
51,491,076 (GRCm39) |
missense |
probably benign |
0.06 |
R6061:Gprc6a
|
UTSW |
10 |
51,491,907 (GRCm39) |
missense |
probably damaging |
1.00 |
R6092:Gprc6a
|
UTSW |
10 |
51,491,173 (GRCm39) |
missense |
probably damaging |
1.00 |
R6132:Gprc6a
|
UTSW |
10 |
51,491,356 (GRCm39) |
missense |
possibly damaging |
0.89 |
R6162:Gprc6a
|
UTSW |
10 |
51,491,008 (GRCm39) |
missense |
probably benign |
0.44 |
R6207:Gprc6a
|
UTSW |
10 |
51,502,931 (GRCm39) |
missense |
probably benign |
0.36 |
R6497:Gprc6a
|
UTSW |
10 |
51,491,797 (GRCm39) |
missense |
probably benign |
0.05 |
R6717:Gprc6a
|
UTSW |
10 |
51,491,233 (GRCm39) |
missense |
probably damaging |
1.00 |
R6789:Gprc6a
|
UTSW |
10 |
51,507,412 (GRCm39) |
missense |
probably damaging |
1.00 |
R6807:Gprc6a
|
UTSW |
10 |
51,502,841 (GRCm39) |
nonsense |
probably null |
|
R7000:Gprc6a
|
UTSW |
10 |
51,491,143 (GRCm39) |
missense |
probably benign |
0.34 |
R7019:Gprc6a
|
UTSW |
10 |
51,507,508 (GRCm39) |
missense |
possibly damaging |
0.68 |
R7143:Gprc6a
|
UTSW |
10 |
51,490,986 (GRCm39) |
missense |
probably benign |
|
R7173:Gprc6a
|
UTSW |
10 |
51,504,595 (GRCm39) |
missense |
probably benign |
0.01 |
R7579:Gprc6a
|
UTSW |
10 |
51,502,883 (GRCm39) |
missense |
probably benign |
|
R7736:Gprc6a
|
UTSW |
10 |
51,491,549 (GRCm39) |
missense |
possibly damaging |
0.82 |
R7920:Gprc6a
|
UTSW |
10 |
51,491,026 (GRCm39) |
missense |
probably benign |
0.02 |
R8273:Gprc6a
|
UTSW |
10 |
51,507,370 (GRCm39) |
missense |
probably benign |
|
R8329:Gprc6a
|
UTSW |
10 |
51,503,355 (GRCm39) |
nonsense |
probably null |
|
R8517:Gprc6a
|
UTSW |
10 |
51,507,337 (GRCm39) |
missense |
probably benign |
0.00 |
R8723:Gprc6a
|
UTSW |
10 |
51,491,518 (GRCm39) |
missense |
probably damaging |
1.00 |
R8815:Gprc6a
|
UTSW |
10 |
51,497,079 (GRCm39) |
missense |
probably benign |
0.00 |
R8829:Gprc6a
|
UTSW |
10 |
51,491,295 (GRCm39) |
missense |
probably damaging |
0.99 |
R9151:Gprc6a
|
UTSW |
10 |
51,497,182 (GRCm39) |
missense |
possibly damaging |
0.94 |
R9420:Gprc6a
|
UTSW |
10 |
51,491,506 (GRCm39) |
missense |
probably damaging |
0.99 |
R9753:Gprc6a
|
UTSW |
10 |
51,504,364 (GRCm39) |
missense |
probably benign |
0.20 |
R9766:Gprc6a
|
UTSW |
10 |
51,491,884 (GRCm39) |
missense |
probably damaging |
1.00 |
R9790:Gprc6a
|
UTSW |
10 |
51,491,395 (GRCm39) |
missense |
probably damaging |
0.98 |
R9791:Gprc6a
|
UTSW |
10 |
51,491,395 (GRCm39) |
missense |
probably damaging |
0.98 |
Z1177:Gprc6a
|
UTSW |
10 |
51,491,305 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Predicted Primers |
PCR Primer
(F):5'- TCAGGGACTTGGTCAAAATACAGG -3'
(R):5'- AGAATGGAACTGACCTCTTTGC -3'
Sequencing Primer
(F):5'- CTTGGTCAAAATACAGGAGACAC -3'
(R):5'- GCCTTCTTAGATATGGATCACTGC -3'
|
Posted On |
2014-06-23 |