Incidental Mutation 'R8543:Gprc5c'
| ID |
659481 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gprc5c
|
| Ensembl Gene |
ENSMUSG00000051043 |
| Gene Name |
G protein-coupled receptor, family C, group 5, member C |
| Synonyms |
3200002M13Rik, 1110028I06Rik |
| MMRRC Submission |
068508-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.274)
|
| Stock # |
R8543 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
114741978-114763443 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 114755094 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 257
(V257E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000061760
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021071]
[ENSMUST00000053361]
[ENSMUST00000122967]
[ENSMUST00000133245]
[ENSMUST00000136785]
[ENSMUST00000142262]
[ENSMUST00000152314]
[ENSMUST00000177952]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000021071
AA Change: V257E
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000021071
Gene: ENSMUSG00000051043
AA Change: V257E
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
Pfam:7tm_3
|
58 |
302 |
1.3e-42 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000053361
AA Change: V257E
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000061760
Gene: ENSMUSG00000051043
AA Change: V257E
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
Pfam:7tm_3
|
60 |
301 |
1.3e-28 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000122967
|
| SMART Domains |
Protein: ENSMUSP00000114335
Gene: ENSMUSG00000051043
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
transmembrane domain
|
55 |
77 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000133245
|
| SMART Domains |
Protein: ENSMUSP00000121572
Gene: ENSMUSG00000051043
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
transmembrane domain
|
55 |
77 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000136785
AA Change: V257E
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000116786
Gene: ENSMUSG00000051043
AA Change: V257E
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
Pfam:7tm_3
|
58 |
283 |
1.5e-38 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000142262
|
| SMART Domains |
Protein: ENSMUSP00000121524
Gene: ENSMUSG00000051043
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
Pfam:7tm_3
|
58 |
133 |
6.2e-14 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000152314
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000177952
AA Change: V257E
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000136702
Gene: ENSMUSG00000051043
AA Change: V257E
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
Pfam:7tm_3
|
58 |
302 |
1.3e-42 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
96% (47/49) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the type 3 G protein-coupled receptor family. Members of this superfamily are characterized by a signature 7-transmembrane domain motif. The specific function of this protein is unknown; however, this protein may mediate the cellular effects of retinoic acid on the G protein signal transduction cascade. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a reporter allele are behaviorally normal but exhibit reticulocytosis, increased mean corpuscular volume, increased percentage of basophils, decreased mean corpuscular hemogloblin concentration, and increased alkaline phophatase and lactic dehydrogenase levels. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrf1 |
T |
A |
17: 43,624,097 (GRCm39) |
L839Q |
probably null |
Het |
| Ampd1 |
T |
A |
3: 102,986,486 (GRCm39) |
F55Y |
possibly damaging |
Het |
| Ank3 |
A |
G |
10: 69,838,266 (GRCm39) |
E891G |
probably damaging |
Het |
| Ankrd13c |
A |
G |
3: 157,709,712 (GRCm39) |
|
probably null |
Het |
| Ankrd63 |
A |
G |
2: 118,533,604 (GRCm39) |
|
probably benign |
Het |
| Arhgap30 |
T |
C |
1: 171,232,530 (GRCm39) |
S392P |
probably damaging |
Het |
| Arhgef11 |
A |
T |
3: 87,589,181 (GRCm39) |
K16M |
probably damaging |
Het |
| Birc6 |
T |
C |
17: 74,872,860 (GRCm39) |
V373A |
probably damaging |
Het |
| Blm |
A |
G |
7: 80,143,964 (GRCm39) |
M822T |
probably damaging |
Het |
| Car15 |
T |
C |
16: 17,654,713 (GRCm39) |
N102D |
probably benign |
Het |
| Cdk14 |
A |
T |
5: 5,430,079 (GRCm39) |
M16K |
probably benign |
Het |
| Cep350 |
A |
G |
1: 155,738,122 (GRCm39) |
Y2574H |
probably damaging |
Het |
| Coro1a |
C |
A |
7: 126,301,188 (GRCm39) |
C104F |
probably damaging |
Het |
| D130043K22Rik |
T |
A |
13: 25,073,852 (GRCm39) |
L977Q |
probably benign |
Het |
| Dcaf1 |
T |
G |
9: 106,735,277 (GRCm39) |
S742A |
probably benign |
Het |
| Dnajb11 |
A |
T |
16: 22,681,335 (GRCm39) |
I38L |
probably benign |
Het |
| Eppk1 |
C |
T |
15: 75,994,319 (GRCm39) |
R854Q |
probably benign |
Het |
| Fat4 |
A |
C |
3: 39,031,643 (GRCm39) |
H2476P |
probably damaging |
Het |
| Fmn2 |
CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC |
CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC |
1: 174,436,769 (GRCm39) |
|
probably benign |
Het |
| Gm14326 |
G |
A |
2: 177,587,452 (GRCm39) |
R515W |
probably damaging |
Het |
| Gm49368 |
T |
C |
7: 127,679,433 (GRCm39) |
Y192H |
probably damaging |
Het |
| Gm7579 |
GGCTGTGGCTCCTGTGGGGGCTGCAAGGGAAGCTGTGGCTCCTGTGGGGGCTGCAAGGGAAGCTGTGGCTCCTGTGGGGGATGCAAGGGAGGCTGTGGCTCCTGTGGGGG |
GGCTGTGGCTCCTGTGGGGGCTGCAAGGGAAGCTGTGGCTCCTGTGGGGGATGCAAGGGAGGCTGTGGCTCCTGTGGGGG |
7: 141,765,782 (GRCm39) |
|
probably benign |
Het |
| Gpr182 |
T |
C |
10: 127,586,861 (GRCm39) |
H30R |
probably benign |
Het |
| Iars2 |
T |
C |
1: 185,019,341 (GRCm39) |
T982A |
probably benign |
Het |
| Ighg2b |
C |
A |
12: 113,270,552 (GRCm39) |
A193S |
probably damaging |
Het |
| Izumo1 |
T |
A |
7: 45,275,678 (GRCm39) |
V329E |
possibly damaging |
Het |
| Kcnj6 |
A |
T |
16: 94,563,250 (GRCm39) |
V398E |
possibly damaging |
Het |
| Lef1 |
T |
A |
3: 130,909,138 (GRCm39) |
N117K |
possibly damaging |
Het |
| Ltbp4 |
T |
C |
7: 27,024,666 (GRCm39) |
S655G |
possibly damaging |
Het |
| Magi3 |
A |
T |
3: 104,126,984 (GRCm39) |
I100N |
probably damaging |
Het |
| Mettl17 |
G |
A |
14: 52,126,257 (GRCm39) |
A222T |
probably benign |
Het |
| Notch4 |
A |
G |
17: 34,787,394 (GRCm39) |
E318G |
probably damaging |
Het |
| Nqo2 |
A |
T |
13: 34,169,297 (GRCm39) |
|
probably null |
Het |
| Or8k31-ps1 |
A |
T |
2: 86,356,386 (GRCm39) |
M45K |
probably damaging |
Het |
| Ptpn18 |
T |
C |
1: 34,511,229 (GRCm39) |
S324P |
probably benign |
Het |
| Repin1 |
G |
T |
6: 48,574,279 (GRCm39) |
E403* |
probably null |
Het |
| Rin1 |
A |
G |
19: 5,102,100 (GRCm39) |
D203G |
probably damaging |
Het |
| Serpinb9c |
T |
A |
13: 33,340,417 (GRCm39) |
E128V |
probably damaging |
Het |
| Slc3a1 |
C |
A |
17: 85,335,925 (GRCm39) |
N22K |
probably benign |
Het |
| Sorbs1 |
G |
C |
19: 40,365,244 (GRCm39) |
R180G |
probably benign |
Het |
| Tmco4 |
G |
T |
4: 138,781,251 (GRCm39) |
V472L |
probably benign |
Het |
| Tmem132d |
T |
C |
5: 128,345,799 (GRCm39) |
E241G |
probably benign |
Het |
| Trim17 |
T |
A |
11: 58,862,281 (GRCm39) |
S438T |
probably damaging |
Het |
| Trmt44 |
T |
C |
5: 35,732,374 (GRCm39) |
R6G |
probably benign |
Het |
| Vcl |
G |
T |
14: 21,045,127 (GRCm39) |
L277F |
probably benign |
Het |
| Vmn2r68 |
C |
T |
7: 84,883,648 (GRCm39) |
M152I |
probably benign |
Het |
| Vmn2r94 |
C |
T |
17: 18,463,984 (GRCm39) |
V769I |
possibly damaging |
Het |
| Vps13d |
G |
T |
4: 144,743,353 (GRCm39) |
S3027* |
probably null |
Het |
| Zfp282 |
A |
G |
6: 47,881,561 (GRCm39) |
Q416R |
probably benign |
Het |
| Zfp668 |
A |
G |
7: 127,466,392 (GRCm39) |
L264P |
probably damaging |
Het |
| Zfp747 |
A |
G |
7: 126,973,655 (GRCm39) |
Y172H |
probably damaging |
Het |
|
| Other mutations in Gprc5c |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01599:Gprc5c
|
APN |
11 |
114,755,078 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01762:Gprc5c
|
APN |
11 |
114,754,850 (GRCm39) |
missense |
probably benign |
0.28 |
|
IGL02039:Gprc5c
|
APN |
11 |
114,755,312 (GRCm39) |
nonsense |
probably null |
|
|
R0800:Gprc5c
|
UTSW |
11 |
114,757,537 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1618:Gprc5c
|
UTSW |
11 |
114,755,220 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R4198:Gprc5c
|
UTSW |
11 |
114,754,686 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4807:Gprc5c
|
UTSW |
11 |
114,755,324 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4846:Gprc5c
|
UTSW |
11 |
114,755,093 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4902:Gprc5c
|
UTSW |
11 |
114,755,093 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4904:Gprc5c
|
UTSW |
11 |
114,755,093 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5016:Gprc5c
|
UTSW |
11 |
114,755,093 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5048:Gprc5c
|
UTSW |
11 |
114,761,177 (GRCm39) |
makesense |
probably null |
|
|
R5106:Gprc5c
|
UTSW |
11 |
114,755,093 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5109:Gprc5c
|
UTSW |
11 |
114,755,093 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5173:Gprc5c
|
UTSW |
11 |
114,755,093 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5266:Gprc5c
|
UTSW |
11 |
114,755,093 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5267:Gprc5c
|
UTSW |
11 |
114,755,093 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5475:Gprc5c
|
UTSW |
11 |
114,755,093 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5508:Gprc5c
|
UTSW |
11 |
114,755,093 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5557:Gprc5c
|
UTSW |
11 |
114,755,093 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5562:Gprc5c
|
UTSW |
11 |
114,755,093 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5563:Gprc5c
|
UTSW |
11 |
114,755,093 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5598:Gprc5c
|
UTSW |
11 |
114,755,093 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5599:Gprc5c
|
UTSW |
11 |
114,755,093 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5729:Gprc5c
|
UTSW |
11 |
114,755,093 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5756:Gprc5c
|
UTSW |
11 |
114,755,093 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5792:Gprc5c
|
UTSW |
11 |
114,755,093 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5793:Gprc5c
|
UTSW |
11 |
114,755,093 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5794:Gprc5c
|
UTSW |
11 |
114,755,093 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5817:Gprc5c
|
UTSW |
11 |
114,754,450 (GRCm39) |
nonsense |
probably null |
|
|
R5976:Gprc5c
|
UTSW |
11 |
114,755,313 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R6151:Gprc5c
|
UTSW |
11 |
114,754,851 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6617:Gprc5c
|
UTSW |
11 |
114,754,931 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7108:Gprc5c
|
UTSW |
11 |
114,755,108 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7191:Gprc5c
|
UTSW |
11 |
114,759,443 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R7796:Gprc5c
|
UTSW |
11 |
114,755,358 (GRCm39) |
missense |
probably damaging |
0.97 |
|
| Predicted Primers |
PCR Primer
(F):5'- AATGTCAGTGCCGACTCGAC -3'
(R):5'- AAATGCCTTGTTCTCCACAAAC -3'
Sequencing Primer
(F):5'- GACCATGACCTCTCCGTGTG -3'
(R):5'- TCAGGATGGTCTCATAGCCCAC -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation