Incidental Mutation 'R5266:Gprc5c'
ID |
401717 |
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 |
042858-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.274)
|
Stock # |
R5266 (G1)
|
Quality Score |
222 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
114741978-114763443 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 114755093 bp (GRCm39)
|
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: 99.1%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 92.6%
|
Validation Efficiency |
97% (56/58) |
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 |
4930503L19Rik |
T |
C |
18: 70,591,455 (GRCm39) |
N457S |
probably damaging |
Het |
Asic4 |
G |
A |
1: 75,427,567 (GRCm39) |
G31E |
probably benign |
Het |
Atp2a3 |
A |
G |
11: 72,866,223 (GRCm39) |
D281G |
probably damaging |
Het |
Azin1 |
T |
C |
15: 38,491,795 (GRCm39) |
D387G |
probably benign |
Het |
Bdp1 |
T |
C |
13: 100,204,043 (GRCm39) |
M660V |
probably benign |
Het |
Catsperg2 |
G |
A |
7: 29,416,491 (GRCm39) |
T307M |
probably damaging |
Het |
Cfap54 |
T |
G |
10: 92,651,764 (GRCm39) |
K3095N |
probably benign |
Het |
Chl1 |
A |
G |
6: 103,677,504 (GRCm39) |
N706S |
probably damaging |
Het |
Crym |
A |
G |
7: 119,798,517 (GRCm39) |
V113A |
probably benign |
Het |
Cux1 |
A |
G |
5: 136,341,548 (GRCm39) |
S607P |
probably damaging |
Het |
Cyp3a44 |
T |
C |
5: 145,731,207 (GRCm39) |
N198D |
possibly damaging |
Het |
Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Het |
Elac1 |
A |
G |
18: 73,875,740 (GRCm39) |
V97A |
probably benign |
Het |
Erbb3 |
G |
A |
10: 128,405,505 (GRCm39) |
T1251M |
probably damaging |
Het |
Gask1b |
T |
A |
3: 79,843,910 (GRCm39) |
N12K |
probably damaging |
Het |
Hydin |
A |
G |
8: 111,061,416 (GRCm39) |
H316R |
possibly damaging |
Het |
Ikzf3 |
A |
T |
11: 98,381,406 (GRCm39) |
M58K |
probably benign |
Het |
Lyst |
T |
C |
13: 13,835,555 (GRCm39) |
Y1746H |
probably damaging |
Het |
Map3k11 |
T |
A |
19: 5,750,622 (GRCm39) |
N613K |
probably benign |
Het |
Mfng |
C |
T |
15: 78,648,588 (GRCm39) |
R163H |
probably benign |
Het |
Mrm1 |
A |
T |
11: 84,710,086 (GRCm39) |
L38Q |
possibly damaging |
Het |
Myo7b |
A |
G |
18: 32,131,787 (GRCm39) |
F470L |
probably damaging |
Het |
Ndst2 |
G |
A |
14: 20,774,555 (GRCm39) |
R834W |
probably damaging |
Het |
Opa1 |
T |
A |
16: 29,436,948 (GRCm39) |
I637N |
probably benign |
Het |
Or52h9 |
A |
T |
7: 104,203,026 (GRCm39) |
Q300L |
probably benign |
Het |
Or5d43 |
T |
C |
2: 88,104,565 (GRCm39) |
Y276C |
possibly damaging |
Het |
Padi4 |
A |
G |
4: 140,473,442 (GRCm39) |
V665A |
possibly damaging |
Het |
Pcdh1 |
A |
G |
18: 38,325,252 (GRCm39) |
Y897H |
probably damaging |
Het |
Pkp3 |
A |
G |
7: 140,663,190 (GRCm39) |
D345G |
probably damaging |
Het |
Pla2g4a |
T |
C |
1: 149,740,918 (GRCm39) |
M366V |
possibly damaging |
Het |
Pnkp |
C |
T |
7: 44,511,827 (GRCm39) |
S113L |
probably damaging |
Het |
Pon3 |
T |
C |
6: 5,240,860 (GRCm39) |
D34G |
possibly damaging |
Het |
Ppargc1b |
A |
T |
18: 61,448,876 (GRCm39) |
S133T |
probably damaging |
Het |
Ppp4r3b |
T |
C |
11: 29,123,309 (GRCm39) |
S2P |
possibly damaging |
Het |
Rbm20 |
A |
G |
19: 53,801,818 (GRCm39) |
T109A |
probably damaging |
Het |
Rexo5 |
C |
A |
7: 119,443,660 (GRCm39) |
H690Q |
probably benign |
Het |
Scube2 |
C |
T |
7: 109,408,437 (GRCm39) |
G670D |
probably damaging |
Het |
Sipa1l2 |
T |
C |
8: 126,218,865 (GRCm39) |
I157M |
probably damaging |
Het |
Slbp |
A |
T |
5: 33,801,210 (GRCm39) |
I167N |
probably damaging |
Het |
Sry |
C |
G |
Y: 2,662,975 (GRCm39) |
Q228H |
unknown |
Het |
Stk36 |
T |
C |
1: 74,650,317 (GRCm39) |
V283A |
probably benign |
Het |
Tead1 |
A |
G |
7: 112,358,673 (GRCm39) |
|
probably benign |
Het |
Tecpr2 |
G |
C |
12: 110,881,836 (GRCm39) |
W135S |
probably damaging |
Het |
Tha1 |
A |
C |
11: 117,760,502 (GRCm39) |
S241A |
probably damaging |
Het |
Ttc39a |
A |
T |
4: 109,279,701 (GRCm39) |
I112F |
probably benign |
Het |
Vmn1r128 |
A |
T |
7: 21,083,328 (GRCm39) |
T11S |
probably benign |
Het |
Vnn1 |
G |
A |
10: 23,779,303 (GRCm39) |
C404Y |
probably damaging |
Het |
Wdr41 |
T |
C |
13: 95,131,759 (GRCm39) |
F57L |
probably damaging |
Het |
Zfp975 |
T |
G |
7: 42,311,654 (GRCm39) |
T320P |
probably damaging |
Het |
Zfp985 |
A |
T |
4: 147,667,289 (GRCm39) |
|
probably null |
Het |
Zfpm2 |
T |
C |
15: 40,962,865 (GRCm39) |
S176P |
probably benign |
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 |
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 |
R8543:Gprc5c
|
UTSW |
11 |
114,755,094 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- AATGTCAGTGCCGACTCGAC -3'
(R):5'- CTCCTTCAGGATGGTCTCATAG -3'
Sequencing Primer
(F):5'- GACCATGACCTCTCCGTGTG -3'
(R):5'- TCAGGATGGTCTCATAGCCCAC -3'
|
Posted On |
2016-07-06 |