Incidental Mutation 'R5794:Gprc5c'
| ID |
447132 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gprc5c
|
| Ensembl Gene |
ENSMUSG00000051043 |
| Gene Name |
G protein-coupled receptor, family C, group 5, member C |
| Synonyms |
|
| MMRRC Submission |
043385-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.431)
|
| Stock # |
R5794 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
114851152-114872617 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 114864267 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 257
(V257L)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000021071
AA Change: V257L
PolyPhen 2
Score 0.834 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000021071
Gene: ENSMUSG00000051043
AA Change: V257L
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
Pfam:7tm_3
|
58 |
302 |
1.3e-42 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000053361
AA Change: V257L
PolyPhen 2
Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000061760
Gene: ENSMUSG00000051043
AA Change: V257L
| 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 |
possibly damaging
Transcript: ENSMUST00000136785
AA Change: V257L
PolyPhen 2
Score 0.852 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000116786
Gene: ENSMUSG00000051043
AA Change: V257L
| 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 |
possibly damaging
Transcript: ENSMUST00000177952
AA Change: V257L
PolyPhen 2
Score 0.834 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000136702
Gene: ENSMUSG00000051043
AA Change: V257L
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
Pfam:7tm_3
|
58 |
302 |
1.3e-42 |
PFAM |
|
| Meta Mutation Damage Score |
0.1280 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.0%
|
| Validation Efficiency |
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aftph |
T |
C |
11: 20,726,955 (GRCm38) |
|
probably null |
Het |
| Ank2 |
T |
C |
3: 126,930,020 (GRCm38) |
N923S |
probably benign |
Het |
| Ano6 |
A |
T |
15: 95,894,524 (GRCm38) |
T76S |
probably benign |
Het |
| Carmil1 |
G |
T |
13: 24,092,550 (GRCm38) |
N204K |
probably damaging |
Het |
| Cep126 |
T |
G |
9: 8,103,439 (GRCm38) |
N190T |
possibly damaging |
Het |
| Clasrp |
A |
T |
7: 19,591,109 (GRCm38) |
D198E |
probably damaging |
Het |
| Cma1 |
T |
C |
14: 55,944,520 (GRCm38) |
T18A |
probably benign |
Het |
| Ece1 |
A |
G |
4: 137,956,533 (GRCm38) |
I565M |
probably damaging |
Het |
| Etl4 |
T |
A |
2: 20,806,512 (GRCm38) |
F1135L |
probably damaging |
Het |
| Fbxw20 |
T |
C |
9: 109,223,290 (GRCm38) |
N325S |
probably damaging |
Het |
| Fbxw20 |
A |
T |
9: 109,233,600 (GRCm38) |
C53S |
possibly damaging |
Het |
| Gnb2 |
T |
C |
5: 137,528,699 (GRCm38) |
D203G |
probably benign |
Het |
| Hoxd9 |
T |
A |
2: 74,699,273 (GRCm38) |
F291Y |
probably damaging |
Het |
| Igf2r |
T |
C |
17: 12,709,445 (GRCm38) |
S1004G |
probably benign |
Het |
| Irgm1 |
T |
C |
11: 48,866,237 (GRCm38) |
Y249C |
probably damaging |
Het |
| Kcnh3 |
A |
C |
15: 99,232,974 (GRCm38) |
I491L |
probably benign |
Het |
| Kctd10 |
G |
A |
5: 114,367,337 (GRCm38) |
R199W |
probably damaging |
Het |
| Klk1b4 |
A |
T |
7: 44,209,645 (GRCm38) |
N29I |
probably damaging |
Het |
| Klrc1 |
C |
T |
6: 129,675,354 (GRCm38) |
R188Q |
probably damaging |
Het |
| Krt32 |
C |
A |
11: 100,084,986 (GRCm38) |
C275F |
probably damaging |
Het |
| Krt73 |
T |
A |
15: 101,794,829 (GRCm38) |
T449S |
probably benign |
Het |
| Napepld |
T |
A |
5: 21,683,431 (GRCm38) |
S7C |
possibly damaging |
Het |
| Nfia |
G |
T |
4: 97,783,601 (GRCm38) |
V183L |
possibly damaging |
Het |
| Olfr788 |
A |
C |
10: 129,473,426 (GRCm38) |
I245L |
possibly damaging |
Het |
| Olfr996 |
T |
C |
2: 85,579,341 (GRCm38) |
V34A |
probably benign |
Het |
| Psma3 |
A |
G |
12: 70,990,497 (GRCm38) |
T111A |
probably benign |
Het |
| Psmd11 |
T |
A |
11: 80,471,492 (GRCm38) |
D125E |
probably benign |
Het |
| Rabgap1 |
T |
A |
2: 37,502,902 (GRCm38) |
D523E |
probably benign |
Het |
| Rttn |
G |
T |
18: 88,995,569 (GRCm38) |
R454L |
probably benign |
Het |
| Serpine2 |
T |
C |
1: 79,821,439 (GRCm38) |
N33D |
probably benign |
Het |
| Six4 |
A |
T |
12: 73,112,350 (GRCm38) |
S271T |
possibly damaging |
Het |
| Smoc2 |
T |
A |
17: 14,369,048 (GRCm38) |
C260S |
possibly damaging |
Het |
| Snai2 |
A |
T |
16: 14,706,726 (GRCm38) |
Y32F |
probably benign |
Het |
| Tapt1 |
C |
T |
5: 44,177,134 (GRCm38) |
G505D |
probably benign |
Het |
| Thap12 |
T |
A |
7: 98,716,393 (GRCm38) |
D589E |
probably benign |
Het |
| Ttc23l |
G |
T |
15: 10,551,550 (GRCm38) |
T30K |
possibly damaging |
Het |
| Vmn2r116 |
T |
C |
17: 23,385,968 (GRCm38) |
I85T |
probably damaging |
Het |
| Zfp592 |
G |
T |
7: 81,025,033 (GRCm38) |
V582L |
probably benign |
Het |
| Zfp827 |
T |
C |
8: 79,070,442 (GRCm38) |
W386R |
probably damaging |
Het |
|
| Other mutations in Gprc5c |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01599:Gprc5c
|
APN |
11 |
114,864,252 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL01762:Gprc5c
|
APN |
11 |
114,864,024 (GRCm38) |
missense |
probably benign |
0.28 |
|
IGL02039:Gprc5c
|
APN |
11 |
114,864,486 (GRCm38) |
nonsense |
probably null |
|
|
R0800:Gprc5c
|
UTSW |
11 |
114,866,711 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1618:Gprc5c
|
UTSW |
11 |
114,864,394 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R4198:Gprc5c
|
UTSW |
11 |
114,863,860 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4807:Gprc5c
|
UTSW |
11 |
114,864,498 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R4846:Gprc5c
|
UTSW |
11 |
114,864,267 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R4902:Gprc5c
|
UTSW |
11 |
114,864,267 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R4904:Gprc5c
|
UTSW |
11 |
114,864,267 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R5016:Gprc5c
|
UTSW |
11 |
114,864,267 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R5048:Gprc5c
|
UTSW |
11 |
114,870,351 (GRCm38) |
makesense |
probably null |
|
|
R5106:Gprc5c
|
UTSW |
11 |
114,864,267 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R5109:Gprc5c
|
UTSW |
11 |
114,864,267 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R5173:Gprc5c
|
UTSW |
11 |
114,864,267 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R5266:Gprc5c
|
UTSW |
11 |
114,864,267 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R5267:Gprc5c
|
UTSW |
11 |
114,864,267 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R5475:Gprc5c
|
UTSW |
11 |
114,864,267 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R5508:Gprc5c
|
UTSW |
11 |
114,864,267 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R5557:Gprc5c
|
UTSW |
11 |
114,864,267 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R5562:Gprc5c
|
UTSW |
11 |
114,864,267 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R5563:Gprc5c
|
UTSW |
11 |
114,864,267 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R5598:Gprc5c
|
UTSW |
11 |
114,864,267 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R5599:Gprc5c
|
UTSW |
11 |
114,864,267 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R5729:Gprc5c
|
UTSW |
11 |
114,864,267 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R5756:Gprc5c
|
UTSW |
11 |
114,864,267 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R5792:Gprc5c
|
UTSW |
11 |
114,864,267 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R5793:Gprc5c
|
UTSW |
11 |
114,864,267 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R5817:Gprc5c
|
UTSW |
11 |
114,863,624 (GRCm38) |
nonsense |
probably null |
|
|
R5976:Gprc5c
|
UTSW |
11 |
114,864,487 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R6151:Gprc5c
|
UTSW |
11 |
114,864,025 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6617:Gprc5c
|
UTSW |
11 |
114,864,105 (GRCm38) |
missense |
probably benign |
0.05 |
|
R7108:Gprc5c
|
UTSW |
11 |
114,864,282 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7191:Gprc5c
|
UTSW |
11 |
114,868,617 (GRCm38) |
missense |
possibly damaging |
0.56 |
|
R7796:Gprc5c
|
UTSW |
11 |
114,864,532 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R8543:Gprc5c
|
UTSW |
11 |
114,864,268 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AATGTCAGTGCCGACTCGAC -3'
(R):5'- AGGATGGTCTCATAGCCCAC -3'
Sequencing Primer
(F):5'- GACCATGACCTCTCCGTGTG -3'
(R):5'- GGGTACATGTCCCCCTGGTAG -3'
|
| Posted On |
2016-12-15 |
Incidental Mutation