Incidental Mutation 'R7019:Gprc6a'
| ID |
545517 |
| 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 |
045120-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7019 (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 51507508 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 7
(V7E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152031
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020062]
[ENSMUST00000218684]
[ENSMUST00000219286]
|
| AlphaFold |
Q8K4Z6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020062
AA Change: V7E
PolyPhen 2
Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000020062
Gene: ENSMUSG00000019905
AA Change: V7E
| 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: V7E
PolyPhen 2
Score 0.675 (Sensitivity: 0.86; Specificity: 0.92)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219286
AA Change: V7E
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
100% (61/61) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abat |
A |
T |
16: 8,436,395 (GRCm39) |
K414* |
probably null |
Het |
| Aco1 |
T |
A |
4: 40,186,376 (GRCm39) |
I596N |
probably damaging |
Het |
| Adgre1 |
A |
C |
17: 57,717,945 (GRCm39) |
D319A |
probably damaging |
Het |
| Birc6 |
T |
C |
17: 74,916,340 (GRCm39) |
V445A |
probably benign |
Het |
| Btd |
A |
C |
14: 31,389,062 (GRCm39) |
Q261P |
probably damaging |
Het |
| Btd |
G |
T |
14: 31,389,063 (GRCm39) |
Q261H |
possibly damaging |
Het |
| C7 |
T |
A |
15: 5,075,164 (GRCm39) |
Y176F |
probably benign |
Het |
| Ccdc102a |
T |
C |
8: 95,636,431 (GRCm39) |
S287G |
probably benign |
Het |
| Ccdc178 |
T |
A |
18: 22,283,495 (GRCm39) |
T12S |
probably benign |
Het |
| Cnga4 |
G |
T |
7: 105,055,036 (GRCm39) |
A104S |
probably benign |
Het |
| Col10a1 |
G |
T |
10: 34,270,947 (GRCm39) |
L306F |
probably damaging |
Het |
| Cpne5 |
T |
C |
17: 29,445,196 (GRCm39) |
D36G |
probably damaging |
Het |
| Csmd2 |
G |
A |
4: 128,262,856 (GRCm39) |
D681N |
|
Het |
| Cspg4b |
C |
T |
13: 113,488,284 (GRCm39) |
T102I |
probably benign |
Het |
| Cstl1 |
A |
G |
2: 148,597,223 (GRCm39) |
M75V |
probably benign |
Het |
| Cyp26a1 |
T |
C |
19: 37,687,260 (GRCm39) |
L149P |
probably damaging |
Het |
| D630045J12Rik |
T |
G |
6: 38,171,570 (GRCm39) |
E866A |
probably benign |
Het |
| Dlec1 |
C |
T |
9: 118,941,490 (GRCm39) |
P292L |
probably benign |
Het |
| Dpp3 |
T |
G |
19: 4,966,817 (GRCm39) |
E402A |
possibly damaging |
Het |
| Egf |
T |
C |
3: 129,511,713 (GRCm39) |
|
probably null |
Het |
| Epha5 |
T |
C |
5: 84,564,321 (GRCm39) |
Q15R |
possibly damaging |
Het |
| Esyt3 |
A |
G |
9: 99,197,338 (GRCm39) |
F831L |
probably benign |
Het |
| Fam50b |
G |
A |
13: 34,931,084 (GRCm39) |
E187K |
possibly damaging |
Het |
| Fut7 |
A |
G |
2: 25,315,792 (GRCm39) |
D350G |
probably benign |
Het |
| Gab1 |
C |
A |
8: 81,511,446 (GRCm39) |
E466D |
probably damaging |
Het |
| Glrp1 |
A |
T |
1: 88,430,890 (GRCm39) |
M160K |
unknown |
Het |
| Gngt1 |
T |
C |
6: 3,994,088 (GRCm39) |
|
probably null |
Het |
| Idh3b |
A |
T |
2: 130,122,886 (GRCm39) |
V301D |
probably damaging |
Het |
| Ifi202b |
A |
C |
1: 173,791,524 (GRCm39) |
C385G |
probably benign |
Het |
| Ilvbl |
T |
A |
10: 78,414,920 (GRCm39) |
L261Q |
probably damaging |
Het |
| Irx6 |
T |
A |
8: 93,405,362 (GRCm39) |
L410Q |
probably damaging |
Het |
| Ism2 |
T |
C |
12: 87,346,437 (GRCm39) |
M15V |
unknown |
Het |
| Itih5 |
C |
A |
2: 10,195,138 (GRCm39) |
R177S |
probably damaging |
Het |
| Klra3 |
C |
T |
6: 130,304,087 (GRCm39) |
G202R |
probably damaging |
Het |
| Krt7 |
T |
C |
15: 101,311,851 (GRCm39) |
V103A |
probably damaging |
Het |
| Lama3 |
T |
C |
18: 12,661,475 (GRCm39) |
S2145P |
probably damaging |
Het |
| Mlph |
A |
G |
1: 90,869,428 (GRCm39) |
R477G |
probably damaging |
Het |
| Mybpc1 |
T |
A |
10: 88,379,581 (GRCm39) |
L653F |
probably damaging |
Het |
| Myrfl |
A |
G |
10: 116,617,852 (GRCm39) |
|
probably null |
Het |
| Myrip |
T |
G |
9: 120,251,573 (GRCm39) |
L232R |
probably damaging |
Het |
| Nrdc |
A |
T |
4: 108,885,999 (GRCm39) |
H126L |
probably benign |
Het |
| Or4n5 |
A |
T |
14: 50,133,124 (GRCm39) |
I45N |
probably damaging |
Het |
| Or5p50 |
G |
T |
7: 107,422,365 (GRCm39) |
L104I |
probably benign |
Het |
| Or8c11 |
T |
A |
9: 38,290,098 (GRCm39) |
L307Q |
possibly damaging |
Het |
| Pcdhb10 |
T |
A |
18: 37,546,056 (GRCm39) |
N377K |
probably damaging |
Het |
| Pigt |
CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT |
CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT |
2: 164,341,589 (GRCm39) |
|
probably null |
Het |
| Prkdc |
A |
C |
16: 15,587,830 (GRCm39) |
I2572L |
probably benign |
Het |
| Ptpro |
C |
A |
6: 137,357,476 (GRCm39) |
D322E |
probably benign |
Het |
| R3hcc1 |
A |
G |
14: 69,941,574 (GRCm39) |
I332T |
probably damaging |
Het |
| Rab8a |
T |
C |
8: 72,915,227 (GRCm39) |
F9L |
probably damaging |
Het |
| Ranbp3l |
A |
T |
15: 9,057,241 (GRCm39) |
K165N |
probably damaging |
Het |
| Rock2 |
T |
A |
12: 17,027,741 (GRCm39) |
C1353S |
probably damaging |
Het |
| Rsad2 |
T |
A |
12: 26,506,418 (GRCm39) |
M1L |
possibly damaging |
Het |
| Tymp |
A |
T |
15: 89,260,484 (GRCm39) |
|
probably null |
Het |
| Vmn1r104 |
A |
G |
7: 20,268,491 (GRCm39) |
M244V |
probably benign |
Het |
| Vmn1r232 |
G |
A |
17: 21,133,547 (GRCm39) |
T351M |
possibly damaging |
Het |
| Vmn2r50 |
A |
G |
7: 9,784,172 (GRCm39) |
Y101H |
probably benign |
Het |
| Vmn2r57 |
A |
G |
7: 41,078,089 (GRCm39) |
L123P |
probably damaging |
Het |
| Wdr17 |
T |
C |
8: 55,134,488 (GRCm39) |
N331D |
probably damaging |
Het |
| Wdr47 |
C |
T |
3: 108,521,671 (GRCm39) |
Q89* |
probably null |
Het |
| Zcchc4 |
A |
T |
5: 52,941,375 (GRCm39) |
T57S |
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 |
|
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 |
|
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'- CCAGCACATTTCTGGATTTGTG -3'
(R):5'- GCAGAGACTCTTGGAATCGGAC -3'
Sequencing Primer
(F):5'- CACATTTCTGGATTTGTGGTCGTC -3'
(R):5'- AGAGACTCTTGGAATCGGACATGTTC -3'
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| Posted On |
2019-05-13 |
Incidental Mutation