Incidental Mutation 'IGL03256:Gprc6a'
| ID |
414651 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gprc6a
|
| Ensembl Gene |
ENSMUSG00000019905 |
| Gene Name |
G protein-coupled receptor, family C, group 6, member A |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL03256
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
51490919-51507554 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 51504445 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 133
(Y133F)
|
| 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: Y133F
PolyPhen 2
Score 0.766 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000020062
Gene: ENSMUSG00000019905
AA Change: Y133F
| 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 |
possibly damaging
Transcript: ENSMUST00000218684
AA Change: Y133F
PolyPhen 2
Score 0.766 (Sensitivity: 0.85; Specificity: 0.92)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000219286
AA Change: Y133F
PolyPhen 2
Score 0.766 (Sensitivity: 0.85; Specificity: 0.92)
|
| Coding Region Coverage |
|
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700030K09Rik |
C |
T |
8: 73,199,043 (GRCm39) |
T150I |
probably benign |
Het |
| Adam2 |
T |
C |
14: 66,291,280 (GRCm39) |
N333D |
probably benign |
Het |
| Aifm3 |
G |
A |
16: 17,324,174 (GRCm39) |
R578Q |
probably benign |
Het |
| Arid2 |
C |
A |
15: 96,268,643 (GRCm39) |
Q919K |
probably benign |
Het |
| Atp6v1a |
T |
C |
16: 43,931,451 (GRCm39) |
|
probably benign |
Het |
| Bicd1 |
A |
T |
6: 149,415,083 (GRCm39) |
T599S |
probably benign |
Het |
| Bltp1 |
T |
C |
3: 36,960,832 (GRCm39) |
|
probably benign |
Het |
| Catsperg2 |
T |
A |
7: 29,409,299 (GRCm39) |
R601W |
probably damaging |
Het |
| Clca3a2 |
A |
C |
3: 144,792,153 (GRCm39) |
S369R |
possibly damaging |
Het |
| Cyfip1 |
T |
G |
7: 55,557,182 (GRCm39) |
V795G |
possibly damaging |
Het |
| Ddb1 |
A |
G |
19: 10,599,225 (GRCm39) |
T544A |
probably benign |
Het |
| Defb43 |
T |
C |
14: 63,255,329 (GRCm39) |
I54T |
probably damaging |
Het |
| Dera |
A |
G |
6: 137,756,643 (GRCm39) |
M89V |
probably benign |
Het |
| Fam227b |
T |
A |
2: 125,830,923 (GRCm39) |
K427I |
probably damaging |
Het |
| Frk |
A |
G |
10: 34,483,838 (GRCm39) |
I400V |
probably benign |
Het |
| Gk5 |
T |
A |
9: 96,011,106 (GRCm39) |
L72H |
probably damaging |
Het |
| Hecw1 |
A |
G |
13: 14,455,069 (GRCm39) |
L662P |
probably damaging |
Het |
| Hecw1 |
G |
T |
13: 14,455,070 (GRCm39) |
L662M |
probably benign |
Het |
| Il12b |
T |
A |
11: 44,298,757 (GRCm39) |
S71T |
probably benign |
Het |
| Kdm2a |
A |
T |
19: 4,395,538 (GRCm39) |
|
probably benign |
Het |
| Lhfpl6 |
A |
G |
3: 52,950,974 (GRCm39) |
R83G |
possibly damaging |
Het |
| Magel2 |
C |
A |
7: 62,030,162 (GRCm39) |
T1022K |
unknown |
Het |
| Mycbp2 |
C |
A |
14: 103,426,025 (GRCm39) |
V2367F |
possibly damaging |
Het |
| Nap1l3 |
C |
T |
X: 121,305,905 (GRCm39) |
G271D |
probably benign |
Het |
| Nars2 |
T |
A |
7: 96,689,117 (GRCm39) |
D346E |
possibly damaging |
Het |
| Nek11 |
T |
A |
9: 105,121,613 (GRCm39) |
E435D |
probably damaging |
Het |
| Nfam1 |
C |
T |
15: 82,894,611 (GRCm39) |
G205R |
probably benign |
Het |
| Or10aa1 |
T |
C |
1: 173,869,774 (GRCm39) |
L86P |
probably damaging |
Het |
| Or1e35 |
A |
T |
11: 73,797,522 (GRCm39) |
N265K |
probably benign |
Het |
| Or5b118 |
T |
A |
19: 13,448,631 (GRCm39) |
M99K |
probably damaging |
Het |
| Otud3 |
G |
A |
4: 138,636,928 (GRCm39) |
R78W |
probably damaging |
Het |
| Oxct2a |
C |
T |
4: 123,216,758 (GRCm39) |
A208T |
probably damaging |
Het |
| Pcdh11x |
A |
T |
X: 119,310,607 (GRCm39) |
E683D |
probably benign |
Het |
| Phtf2 |
C |
A |
5: 21,008,250 (GRCm39) |
V144L |
probably damaging |
Het |
| Pkn2 |
T |
C |
3: 142,509,311 (GRCm39) |
|
probably null |
Het |
| Puf60 |
T |
A |
15: 75,942,445 (GRCm39) |
D459V |
possibly damaging |
Het |
| Ralgapa2 |
A |
G |
2: 146,302,632 (GRCm39) |
|
probably null |
Het |
| Rapgef6 |
A |
C |
11: 54,548,255 (GRCm39) |
Q813P |
probably damaging |
Het |
| Rsf1 |
A |
T |
7: 97,328,211 (GRCm39) |
D1071V |
possibly damaging |
Het |
| Sctr |
T |
C |
1: 119,959,289 (GRCm39) |
|
probably benign |
Het |
| Serpini1 |
A |
G |
3: 75,526,481 (GRCm39) |
I244M |
probably benign |
Het |
| Tada2a |
C |
A |
11: 83,978,018 (GRCm39) |
|
probably benign |
Het |
| Tada3 |
A |
T |
6: 113,352,092 (GRCm39) |
H112Q |
possibly damaging |
Het |
| Tnxb |
T |
A |
17: 34,907,694 (GRCm39) |
L1246Q |
probably damaging |
Het |
| Txndc16 |
T |
C |
14: 45,389,353 (GRCm39) |
N449S |
probably damaging |
Het |
| Usp34 |
T |
A |
11: 23,370,090 (GRCm39) |
Y1771* |
probably null |
Het |
| Vav2 |
A |
T |
2: 27,161,912 (GRCm39) |
|
probably null |
Het |
| Virma |
T |
C |
4: 11,542,207 (GRCm39) |
|
probably benign |
Het |
| Vmn1r78 |
T |
A |
7: 11,886,725 (GRCm39) |
I112N |
probably damaging |
Het |
| Vnn3 |
A |
T |
10: 23,727,698 (GRCm39) |
|
probably benign |
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 |
|
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 |
|
|
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 |
|
| Posted On |
2016-08-02 |
Incidental Mutation