Incidental Mutation 'R7173:Gprc6a'
| ID |
558435 |
| 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 |
045265-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7173 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
51490919-51507554 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 51504595 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 83
(M83K)
|
| 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: M83K
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000020062
Gene: ENSMUSG00000019905
AA Change: M83K
| 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: M83K
PolyPhen 2
Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219286
AA Change: M83K
PolyPhen 2
Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (79/79) |
| 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: 78 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5031439G07Rik |
C |
T |
15: 84,833,848 (GRCm39) |
V403I |
possibly damaging |
Het |
| Actn1 |
G |
A |
12: 80,224,033 (GRCm39) |
R475C |
possibly damaging |
Het |
| Adam11 |
T |
C |
11: 102,662,757 (GRCm39) |
L191P |
possibly damaging |
Het |
| Adam21 |
G |
T |
12: 81,606,008 (GRCm39) |
Q585K |
probably benign |
Het |
| Akap3 |
T |
C |
6: 126,841,729 (GRCm39) |
V116A |
probably benign |
Het |
| Alpk1 |
A |
T |
3: 127,478,024 (GRCm39) |
Y74* |
probably null |
Het |
| Alx4 |
G |
T |
2: 93,473,202 (GRCm39) |
G67C |
possibly damaging |
Het |
| Ankrd17 |
A |
T |
5: 90,407,976 (GRCm39) |
C1414S |
possibly damaging |
Het |
| Ankrd44 |
T |
C |
1: 54,805,550 (GRCm39) |
D170G |
probably damaging |
Het |
| Arpc2 |
T |
A |
1: 74,303,531 (GRCm39) |
M266K |
probably damaging |
Het |
| Atp12a |
A |
T |
14: 56,621,837 (GRCm39) |
N794I |
probably damaging |
Het |
| Cabin1 |
A |
G |
10: 75,582,396 (GRCm39) |
L340P |
probably benign |
Het |
| Ccer1 |
A |
T |
10: 97,529,217 (GRCm39) |
|
probably benign |
Het |
| Cfap73 |
A |
T |
5: 120,772,279 (GRCm39) |
Y8N |
probably damaging |
Het |
| Cfhr4 |
C |
A |
1: 139,659,415 (GRCm39) |
E705* |
probably null |
Het |
| Cln3 |
T |
C |
7: 126,178,589 (GRCm39) |
T173A |
probably damaging |
Het |
| Cxcl3 |
A |
T |
5: 90,934,008 (GRCm39) |
|
probably benign |
Het |
| Cyp2c66 |
G |
C |
19: 39,159,401 (GRCm39) |
C284S |
probably benign |
Het |
| Dnajc22 |
T |
C |
15: 98,999,187 (GRCm39) |
V124A |
probably benign |
Het |
| Dync1h1 |
C |
G |
12: 110,568,173 (GRCm39) |
D45E |
probably benign |
Het |
| Elmod3 |
A |
T |
6: 72,554,235 (GRCm39) |
|
probably null |
Het |
| Enpp3 |
A |
C |
10: 24,649,945 (GRCm39) |
V827G |
probably damaging |
Het |
| Esyt2 |
T |
C |
12: 116,327,154 (GRCm39) |
I574T |
probably benign |
Het |
| Ext2 |
A |
T |
2: 93,643,957 (GRCm39) |
I108N |
probably damaging |
Het |
| Fam186a |
T |
C |
15: 99,843,531 (GRCm39) |
I904M |
unknown |
Het |
| Fmnl2 |
T |
C |
2: 53,004,202 (GRCm39) |
I638T |
unknown |
Het |
| Fndc3c1 |
G |
C |
X: 105,478,679 (GRCm39) |
L724V |
possibly damaging |
Het |
| Fras1 |
G |
T |
5: 96,925,937 (GRCm39) |
A3714S |
probably damaging |
Het |
| Fsd1 |
C |
A |
17: 56,303,696 (GRCm39) |
R479S |
possibly damaging |
Het |
| Gaa |
C |
T |
11: 119,169,817 (GRCm39) |
L624F |
probably damaging |
Het |
| Galnt2 |
G |
A |
8: 125,032,292 (GRCm39) |
V86I |
probably benign |
Het |
| Gdap1l1 |
T |
G |
2: 163,280,608 (GRCm39) |
V48G |
probably damaging |
Het |
| Gm10549 |
A |
G |
18: 33,597,462 (GRCm39) |
T83A |
unknown |
Het |
| Gm11437 |
T |
G |
11: 84,055,374 (GRCm39) |
T81P |
probably benign |
Het |
| Gm16253 |
T |
C |
3: 96,487,979 (GRCm39) |
|
probably null |
Het |
| Grik5 |
T |
C |
7: 24,767,587 (GRCm39) |
D31G |
probably damaging |
Het |
| Hcrtr2 |
A |
G |
9: 76,167,013 (GRCm39) |
L108P |
probably damaging |
Het |
| Herc2 |
T |
A |
7: 55,853,575 (GRCm39) |
L3689Q |
probably damaging |
Het |
| Igf2bp1 |
T |
C |
11: 95,859,290 (GRCm39) |
M407V |
probably benign |
Het |
| Irgq |
A |
T |
7: 24,233,185 (GRCm39) |
E342V |
probably damaging |
Het |
| Itih2 |
A |
T |
2: 10,109,974 (GRCm39) |
I593N |
probably damaging |
Het |
| Ivd |
G |
T |
2: 118,701,870 (GRCm39) |
G101C |
probably damaging |
Het |
| Jakmip1 |
G |
A |
5: 37,248,708 (GRCm39) |
G123S |
probably damaging |
Het |
| Kif14 |
T |
A |
1: 136,406,908 (GRCm39) |
I580N |
probably damaging |
Het |
| Kmt2e |
A |
T |
5: 23,669,855 (GRCm39) |
Y114F |
probably damaging |
Het |
| Ly6g5b |
C |
A |
17: 35,333,680 (GRCm39) |
C99F |
probably damaging |
Het |
| Map3k20 |
C |
T |
2: 72,271,758 (GRCm39) |
P629S |
probably benign |
Het |
| Mpl |
A |
G |
4: 118,305,741 (GRCm39) |
|
probably null |
Het |
| Muc4 |
T |
C |
16: 32,582,862 (GRCm39) |
F476L |
probably damaging |
Het |
| Mup18 |
T |
C |
4: 61,590,199 (GRCm39) |
T110A |
probably benign |
Het |
| Nlrp9a |
A |
G |
7: 26,257,603 (GRCm39) |
D407G |
probably benign |
Het |
| Nmur1 |
G |
A |
1: 86,314,190 (GRCm39) |
R359C |
probably benign |
Het |
| Or5ac24 |
T |
C |
16: 59,165,510 (GRCm39) |
T185A |
probably benign |
Het |
| Or5p64 |
C |
T |
7: 107,854,955 (GRCm39) |
C130Y |
possibly damaging |
Het |
| Panx3 |
A |
T |
9: 37,572,596 (GRCm39) |
M318K |
probably damaging |
Het |
| Pcnx1 |
T |
C |
12: 81,999,777 (GRCm39) |
|
probably null |
Het |
| Pcsk5 |
T |
C |
19: 17,455,241 (GRCm39) |
Y1063C |
possibly damaging |
Het |
| Psme3ip1 |
A |
T |
8: 95,315,486 (GRCm39) |
F15L |
probably damaging |
Het |
| Rere |
G |
A |
4: 150,553,195 (GRCm39) |
R129H |
probably damaging |
Het |
| Rpgrip1 |
A |
G |
14: 52,349,633 (GRCm39) |
Y7C |
possibly damaging |
Het |
| Serpina6 |
T |
C |
12: 103,613,253 (GRCm39) |
N349S |
possibly damaging |
Het |
| Slc10a1 |
T |
G |
12: 81,002,750 (GRCm39) |
E296A |
probably damaging |
Het |
| Slc2a9 |
A |
T |
5: 38,610,214 (GRCm39) |
|
probably null |
Het |
| Sptan1 |
T |
A |
2: 29,873,221 (GRCm39) |
M138K |
probably benign |
Het |
| Tbl3 |
T |
C |
17: 24,924,233 (GRCm39) |
T175A |
probably benign |
Het |
| Tbrg4 |
T |
C |
11: 6,570,810 (GRCm39) |
T221A |
possibly damaging |
Het |
| Tenm2 |
T |
C |
11: 35,932,378 (GRCm39) |
T1739A |
probably damaging |
Het |
| Tmed5 |
T |
C |
5: 108,280,187 (GRCm39) |
D35G |
probably benign |
Het |
| Tnfsf15 |
A |
T |
4: 63,647,889 (GRCm39) |
S250R |
probably damaging |
Het |
| Tnpo2 |
G |
T |
8: 85,781,707 (GRCm39) |
V830F |
probably benign |
Het |
| Ttbk2 |
G |
T |
2: 120,570,592 (GRCm39) |
S1187Y |
probably damaging |
Het |
| Ttn |
G |
A |
2: 76,625,029 (GRCm39) |
T15183M |
possibly damaging |
Het |
| Tubgcp3 |
T |
C |
8: 12,689,259 (GRCm39) |
|
probably null |
Het |
| Vmn1r38 |
T |
C |
6: 66,753,278 (GRCm39) |
I279M |
possibly damaging |
Het |
| Vmn1r49 |
A |
T |
6: 90,049,250 (GRCm39) |
Y251N |
possibly damaging |
Het |
| Vmn1r66 |
C |
T |
7: 10,008,482 (GRCm39) |
V184I |
probably benign |
Het |
| Vmn2r26 |
T |
A |
6: 124,038,255 (GRCm39) |
M610K |
probably benign |
Het |
| Xrn2 |
C |
T |
2: 146,884,013 (GRCm39) |
P591S |
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 |
|
R1831:Gprc6a
|
UTSW |
10 |
51,491,902 (GRCm39) |
missense |
probably benign |
0.22 |
|
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 |
|
|
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'- TGACCCTTGGCATGTAGCTG -3'
(R):5'- TCTGCTAAAACTTATGATCAGGGG -3'
Sequencing Primer
(F):5'- CATGTAGCTGGAATAGTCACACTG -3'
(R):5'- CTTTGTTTCAGAAAGTGCTTT -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation