Incidental Mutation 'R5598:Gprc5c'
ID |
437937 |
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 |
043150-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.295)
|
Stock # |
R5598 (G1)
|
Quality Score |
212 |
Status
|
Not 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: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.8%
|
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: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adnp |
T |
C |
2: 168,025,645 (GRCm39) |
D550G |
probably damaging |
Het |
Ano6 |
A |
G |
15: 95,839,228 (GRCm39) |
T457A |
probably damaging |
Het |
Ano8 |
A |
G |
8: 71,935,221 (GRCm39) |
V359A |
probably damaging |
Het |
Aqp2 |
G |
T |
15: 99,476,993 (GRCm39) |
|
probably benign |
Het |
Atp13a5 |
C |
T |
16: 29,075,829 (GRCm39) |
|
probably benign |
Het |
Carmil3 |
ACCCCC |
ACCCCCCCCCCCC |
14: 55,741,456 (GRCm39) |
|
probably null |
Het |
Ccr1l1 |
A |
G |
9: 123,778,030 (GRCm39) |
V139A |
probably benign |
Het |
Cecr2 |
A |
G |
6: 120,708,407 (GRCm39) |
|
probably null |
Het |
Celsr2 |
A |
G |
3: 108,310,119 (GRCm39) |
V1537A |
possibly damaging |
Het |
Chd6 |
T |
A |
2: 160,856,032 (GRCm39) |
K741N |
probably damaging |
Het |
Chrna1 |
T |
A |
2: 73,397,075 (GRCm39) |
T405S |
probably benign |
Het |
Cish |
T |
C |
9: 107,174,227 (GRCm39) |
V5A |
possibly damaging |
Het |
Cmss1 |
C |
A |
16: 57,131,649 (GRCm39) |
C159F |
probably damaging |
Het |
Col1a2 |
A |
G |
6: 4,516,916 (GRCm39) |
|
probably benign |
Het |
Cradd |
G |
T |
10: 95,011,666 (GRCm39) |
S158* |
probably null |
Het |
Dmxl1 |
G |
A |
18: 49,997,545 (GRCm39) |
A578T |
probably benign |
Het |
Drd2 |
A |
G |
9: 49,318,315 (GRCm39) |
N419S |
possibly damaging |
Het |
E4f1 |
T |
C |
17: 24,666,103 (GRCm39) |
T232A |
probably damaging |
Het |
Fat2 |
T |
A |
11: 55,171,956 (GRCm39) |
E2919V |
probably damaging |
Het |
Gc |
T |
C |
5: 89,586,309 (GRCm39) |
|
probably null |
Het |
Hsd11b2 |
G |
A |
8: 106,249,143 (GRCm39) |
V173I |
probably benign |
Het |
Kdm6b |
C |
T |
11: 69,296,900 (GRCm39) |
A456T |
probably damaging |
Het |
Kif18b |
G |
A |
11: 102,799,015 (GRCm39) |
P729S |
possibly damaging |
Het |
Lgi1 |
A |
G |
19: 38,294,629 (GRCm39) |
D467G |
possibly damaging |
Het |
Loxl1 |
A |
G |
9: 58,219,650 (GRCm39) |
Y174H |
possibly damaging |
Het |
Mtus1 |
A |
T |
8: 41,475,592 (GRCm39) |
I824N |
probably damaging |
Het |
Myrf |
C |
T |
19: 10,192,654 (GRCm39) |
E622K |
probably benign |
Het |
Ncam1 |
A |
G |
9: 49,457,051 (GRCm39) |
Y416H |
probably damaging |
Het |
Nceh1 |
A |
G |
3: 27,280,248 (GRCm39) |
T132A |
probably benign |
Het |
Nhlrc4 |
G |
A |
17: 26,162,466 (GRCm39) |
P94S |
probably damaging |
Het |
Or2v1 |
C |
G |
11: 49,025,941 (GRCm39) |
D307E |
probably benign |
Het |
Or52s1b |
A |
T |
7: 102,822,841 (GRCm39) |
M1K |
probably null |
Het |
Or8b1 |
A |
T |
9: 38,399,821 (GRCm39) |
R165S |
possibly damaging |
Het |
Pcdhac2 |
A |
G |
18: 37,277,476 (GRCm39) |
Y152C |
probably damaging |
Het |
Pdia3 |
C |
A |
2: 121,244,611 (GRCm39) |
T8K |
possibly damaging |
Het |
Pogz |
T |
A |
3: 94,771,820 (GRCm39) |
V304E |
probably damaging |
Het |
Snrnp200 |
A |
G |
2: 127,068,007 (GRCm39) |
S835G |
possibly damaging |
Het |
Susd4 |
T |
C |
1: 182,719,635 (GRCm39) |
S417P |
probably benign |
Het |
Thsd7b |
G |
A |
1: 129,523,578 (GRCm39) |
R127H |
probably damaging |
Het |
Tmco4 |
A |
G |
4: 138,781,216 (GRCm39) |
D460G |
probably damaging |
Het |
Ttll9 |
T |
A |
2: 152,826,234 (GRCm39) |
M148K |
probably damaging |
Het |
Ubn2 |
G |
A |
6: 38,467,323 (GRCm39) |
C677Y |
probably benign |
Het |
Vmn2r98 |
T |
C |
17: 19,301,161 (GRCm39) |
I721T |
probably benign |
Het |
Wdfy4 |
C |
A |
14: 32,855,454 (GRCm39) |
C720F |
probably damaging |
Het |
Zzef1 |
G |
A |
11: 72,807,347 (GRCm39) |
D2742N |
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 |
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'- TTGTTCTCCACAAACATGCTCTGG -3'
Sequencing Primer
(F):5'- GACCATGACCTCTCCGTGTG -3'
(R):5'- TCAGGATGGTCTCATAGCCCAC -3'
|
Posted On |
2016-10-26 |