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 |
Ncbi RefSeq: NM_153071.1; MGI:2429498
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1831 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
51614823-51631461 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 51615806 bp (GRCm38)
|
| 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 |
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: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700109H08Rik |
A |
G |
5: 3,577,255 (GRCm38) |
D77G |
probably damaging |
Het |
| Adam1b |
A |
G |
5: 121,502,937 (GRCm38) |
I15T |
possibly damaging |
Het |
| Arfgef1 |
G |
C |
1: 10,204,890 (GRCm38) |
I312M |
probably benign |
Het |
| Capn8 |
G |
A |
1: 182,611,101 (GRCm38) |
|
probably null |
Het |
| Carmil1 |
A |
T |
13: 24,164,879 (GRCm38) |
V15E |
probably benign |
Het |
| Ccdc42 |
T |
A |
11: 68,590,979 (GRCm38) |
M133K |
probably benign |
Het |
| Cd5 |
T |
C |
19: 10,719,569 (GRCm38) |
D485G |
probably damaging |
Het |
| Cep104 |
T |
A |
4: 154,002,546 (GRCm38) |
V842E |
probably benign |
Het |
| Cep162 |
T |
A |
9: 87,206,932 (GRCm38) |
I966L |
probably damaging |
Het |
| Cklf |
T |
C |
8: 104,251,055 (GRCm38) |
F13S |
probably damaging |
Het |
| Csf2rb |
C |
T |
15: 78,348,253 (GRCm38) |
P587S |
probably benign |
Het |
| Cyp21a1 |
A |
T |
17: 34,804,035 (GRCm38) |
|
probably benign |
Het |
| Cyp26a1 |
A |
T |
19: 37,700,623 (GRCm38) |
L335F |
probably damaging |
Het |
| Dcst1 |
A |
G |
3: 89,352,750 (GRCm38) |
F596L |
probably damaging |
Het |
| Dennd6a |
T |
A |
14: 26,606,954 (GRCm38) |
L44H |
probably damaging |
Het |
| Dnah6 |
G |
A |
6: 73,181,797 (GRCm38) |
R608C |
possibly damaging |
Het |
| Dnajb5 |
A |
T |
4: 42,957,333 (GRCm38) |
T311S |
probably benign |
Het |
| Dthd1 |
A |
G |
5: 62,827,229 (GRCm38) |
T426A |
probably benign |
Het |
| Dync1h1 |
A |
G |
12: 110,614,059 (GRCm38) |
K118R |
probably damaging |
Het |
| Efemp1 |
A |
T |
11: 28,921,442 (GRCm38) |
D347V |
possibly damaging |
Het |
| Ephb4 |
T |
A |
5: 137,354,415 (GRCm38) |
Y87N |
probably damaging |
Het |
| Ern1 |
A |
T |
11: 106,399,842 (GRCm38) |
|
probably null |
Het |
| Fam184a |
A |
T |
10: 53,647,084 (GRCm38) |
D164E |
probably damaging |
Het |
| Fkbp10 |
A |
G |
11: 100,423,219 (GRCm38) |
E351G |
probably damaging |
Het |
| Fmn2 |
A |
G |
1: 174,609,945 (GRCm38) |
S1161G |
probably benign |
Het |
| Frem1 |
A |
G |
4: 83,020,837 (GRCm38) |
S3P |
possibly damaging |
Het |
| Gm10260 |
A |
G |
13: 97,760,545 (GRCm38) |
V15A |
probably benign |
Het |
| Gm281 |
A |
G |
14: 13,899,619 (GRCm38) |
I101T |
probably damaging |
Het |
| Gpr3 |
C |
T |
4: 133,211,143 (GRCm38) |
A73T |
possibly damaging |
Het |
| Gtf3c2 |
G |
T |
5: 31,168,369 (GRCm38) |
Q452K |
probably damaging |
Het |
| H2-Q7 |
C |
A |
17: 35,439,699 (GRCm38) |
S104R |
probably benign |
Het |
| Hacd2 |
T |
C |
16: 35,102,064 (GRCm38) |
Y208H |
probably damaging |
Het |
| Hid1 |
C |
T |
11: 115,348,903 (GRCm38) |
G734R |
probably damaging |
Het |
| Ifi207 |
A |
G |
1: 173,732,426 (GRCm38) |
I160T |
unknown |
Het |
| Itga11 |
T |
A |
9: 62,782,018 (GRCm38) |
L1155Q |
probably damaging |
Het |
| Kmt2d |
A |
G |
15: 98,855,343 (GRCm38) |
S157P |
probably damaging |
Het |
| Lamb3 |
A |
G |
1: 193,334,879 (GRCm38) |
T793A |
probably damaging |
Het |
| Lonrf2 |
G |
A |
1: 38,813,276 (GRCm38) |
P165S |
probably benign |
Het |
| Lrrc66 |
G |
A |
5: 73,607,426 (GRCm38) |
S758L |
possibly damaging |
Het |
| Ltn1 |
C |
T |
16: 87,400,146 (GRCm38) |
S1213N |
possibly damaging |
Het |
| Med1 |
T |
C |
11: 98,156,611 (GRCm38) |
|
probably benign |
Het |
| Megf6 |
C |
T |
4: 154,270,677 (GRCm38) |
T1483M |
probably benign |
Het |
| Micall2 |
A |
G |
5: 139,716,753 (GRCm38) |
V245A |
probably benign |
Het |
| Mipep |
T |
G |
14: 60,872,063 (GRCm38) |
Y630D |
probably damaging |
Het |
| Ndst3 |
T |
A |
3: 123,601,478 (GRCm38) |
H501L |
probably benign |
Het |
| Nek10 |
A |
T |
14: 14,842,789 (GRCm38) |
M165L |
probably benign |
Het |
| Nmbr |
C |
A |
10: 14,766,865 (GRCm38) |
T56K |
probably benign |
Het |
| Nxpe2 |
T |
A |
9: 48,326,152 (GRCm38) |
M268L |
probably benign |
Het |
| Oasl2 |
A |
G |
5: 114,901,306 (GRCm38) |
Y185C |
probably benign |
Het |
| Ogdhl |
T |
A |
14: 32,337,527 (GRCm38) |
V377E |
probably damaging |
Het |
| Olfr115 |
G |
A |
17: 37,609,839 (GRCm38) |
S304L |
possibly damaging |
Het |
| Olfr738 |
T |
A |
14: 50,414,201 (GRCm38) |
|
probably null |
Het |
| Ovgp1 |
A |
G |
3: 105,985,068 (GRCm38) |
R346G |
probably benign |
Het |
| Parp14 |
T |
A |
16: 35,858,588 (GRCm38) |
N337Y |
possibly damaging |
Het |
| Pask |
A |
C |
1: 93,320,769 (GRCm38) |
|
probably null |
Het |
| Pax3 |
G |
T |
1: 78,132,340 (GRCm38) |
T227K |
probably damaging |
Het |
| Pik3r6 |
T |
A |
11: 68,544,034 (GRCm38) |
M594K |
probably benign |
Het |
| Pms1 |
A |
G |
1: 53,207,211 (GRCm38) |
F390L |
probably benign |
Het |
| Polg |
G |
A |
7: 79,459,770 (GRCm38) |
T433I |
probably benign |
Het |
| Prex1 |
T |
C |
2: 166,585,101 (GRCm38) |
Y898C |
probably damaging |
Het |
| Ranbp2 |
T |
A |
10: 58,479,222 (GRCm38) |
C1921* |
probably null |
Het |
| Rif1 |
T |
A |
2: 52,078,495 (GRCm38) |
L230* |
probably null |
Het |
| Rnf148 |
A |
G |
6: 23,654,773 (GRCm38) |
F75L |
probably damaging |
Het |
| Sclt1 |
A |
G |
3: 41,727,111 (GRCm38) |
V91A |
probably damaging |
Het |
| Sirt1 |
T |
C |
10: 63,320,646 (GRCm38) |
D735G |
probably benign |
Het |
| Spag5 |
T |
A |
11: 78,314,256 (GRCm38) |
N622K |
probably benign |
Het |
| Sspo |
T |
G |
6: 48,489,786 (GRCm38) |
C3935W |
probably damaging |
Het |
| Strbp |
A |
G |
2: 37,625,265 (GRCm38) |
S250P |
possibly damaging |
Het |
| Tgfbr2 |
T |
C |
9: 116,090,536 (GRCm38) |
T541A |
possibly damaging |
Het |
| Thada |
A |
C |
17: 84,231,114 (GRCm38) |
S1489A |
probably damaging |
Het |
| Tiam1 |
A |
T |
16: 89,860,294 (GRCm38) |
S685T |
probably benign |
Het |
| Tldc1 |
T |
C |
8: 119,771,253 (GRCm38) |
M171V |
probably null |
Het |
| Tpsb2 |
T |
A |
17: 25,366,520 (GRCm38) |
|
probably null |
Het |
| Trip4 |
C |
A |
9: 65,858,340 (GRCm38) |
G359V |
probably damaging |
Het |
| Tsr1 |
T |
C |
11: 74,900,356 (GRCm38) |
F254L |
probably benign |
Het |
| Vmn1r120 |
T |
C |
7: 21,053,631 (GRCm38) |
K52E |
probably benign |
Het |
| Vmn1r29 |
C |
A |
6: 58,307,707 (GRCm38) |
Y137* |
probably null |
Het |
| Vmn2r52 |
T |
C |
7: 10,159,488 (GRCm38) |
K575E |
probably damaging |
Het |
| Wdr95 |
A |
G |
5: 149,552,426 (GRCm38) |
Y63C |
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 |
|
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 |
|
|
R2229:Gprc6a
|
UTSW |
10 |
51,626,795 (GRCm38) |
missense |
possibly damaging |
0.50 |
|
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'- TCAGGGACTTGGTCAAAATACAGG -3'
(R):5'- AGAATGGAACTGACCTCTTTGC -3'
Sequencing Primer
(F):5'- CTTGGTCAAAATACAGGAGACAC -3'
(R):5'- GCCTTCTTAGATATGGATCACTGC -3'
|
| Posted On |
2014-06-23 |
Incidental Mutation