Incidental Mutation 'R5729:Gprc5c'
ID |
452674 |
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 |
043346-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.274)
|
Stock # |
R5729 (G1)
|
Quality Score |
225 |
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]
[ENSMUST00000177952]
[ENSMUST00000152314]
|
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 |
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 |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000152314
|
Meta Mutation Damage Score |
0.1280 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 95.2%
|
Validation Efficiency |
97% (62/64) |
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: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adss2 |
A |
T |
1: 177,623,824 (GRCm39) |
V46E |
possibly damaging |
Het |
Aldoart2 |
T |
C |
12: 55,612,690 (GRCm39) |
V205A |
probably benign |
Het |
Atp1a2 |
A |
G |
1: 172,120,938 (GRCm39) |
S45P |
probably damaging |
Het |
Atp4a |
A |
G |
7: 30,411,851 (GRCm39) |
K29E |
possibly damaging |
Het |
AU040320 |
T |
A |
4: 126,724,208 (GRCm39) |
D428E |
probably damaging |
Het |
Bend7 |
T |
C |
2: 4,768,085 (GRCm39) |
L347P |
probably damaging |
Het |
Cacna2d1 |
T |
A |
5: 16,140,037 (GRCm39) |
L9* |
probably null |
Het |
Ccdc103 |
A |
T |
11: 102,773,904 (GRCm39) |
I50F |
probably damaging |
Het |
Cdc5l |
T |
C |
17: 45,737,495 (GRCm39) |
I88V |
probably benign |
Het |
Cracr2a |
T |
C |
6: 127,584,199 (GRCm39) |
V86A |
possibly damaging |
Het |
Cybb |
C |
G |
X: 9,316,989 (GRCm39) |
D246H |
probably benign |
Het |
Dgkd |
C |
T |
1: 87,864,054 (GRCm39) |
Q90* |
probably null |
Het |
Dnajc21 |
A |
T |
15: 10,449,682 (GRCm39) |
D446E |
probably benign |
Het |
Fam13a |
T |
G |
6: 58,916,292 (GRCm39) |
R648S |
probably damaging |
Het |
Gabrg2 |
A |
G |
11: 41,858,450 (GRCm39) |
V226A |
probably damaging |
Het |
Gm5499 |
A |
T |
17: 87,385,944 (GRCm39) |
|
noncoding transcript |
Het |
Irf2bp1 |
G |
T |
7: 18,739,172 (GRCm39) |
E271* |
probably null |
Het |
Krt86 |
T |
G |
15: 101,374,429 (GRCm39) |
V274G |
probably benign |
Het |
Lats2 |
A |
T |
14: 57,960,192 (GRCm39) |
C151S |
probably benign |
Het |
Mapk3 |
A |
T |
7: 126,363,979 (GRCm39) |
T254S |
probably benign |
Het |
Mat2b |
A |
T |
11: 40,573,373 (GRCm39) |
M202K |
probably damaging |
Het |
Mos |
A |
G |
4: 3,870,971 (GRCm39) |
Y282H |
probably benign |
Het |
Myo3b |
A |
G |
2: 69,936,083 (GRCm39) |
K108R |
probably damaging |
Het |
Naa16 |
A |
G |
14: 79,593,220 (GRCm39) |
Y417H |
probably damaging |
Het |
Oat |
A |
T |
7: 132,159,984 (GRCm39) |
I412N |
probably damaging |
Het |
Or4d11 |
A |
T |
19: 12,013,272 (GRCm39) |
I278N |
probably damaging |
Het |
Pcdh1 |
A |
T |
18: 38,335,999 (GRCm39) |
V73D |
probably damaging |
Het |
Pigv |
A |
T |
4: 133,392,134 (GRCm39) |
Y345* |
probably null |
Het |
Pitpnc1 |
G |
T |
11: 107,228,264 (GRCm39) |
F34L |
probably benign |
Het |
Plxnd1 |
A |
G |
6: 115,942,838 (GRCm39) |
L1282P |
probably damaging |
Het |
Ppp1r3a |
T |
C |
6: 14,719,762 (GRCm39) |
D384G |
probably benign |
Het |
Ppp2ca |
G |
A |
11: 52,008,856 (GRCm39) |
E119K |
probably damaging |
Het |
Psg29 |
A |
T |
7: 16,944,459 (GRCm39) |
N323I |
probably damaging |
Het |
Rasa4 |
T |
C |
5: 136,122,016 (GRCm39) |
V108A |
probably benign |
Het |
Rbm14 |
A |
G |
19: 4,852,577 (GRCm39) |
|
probably benign |
Het |
Rfc1 |
A |
T |
5: 65,434,795 (GRCm39) |
V657E |
probably damaging |
Het |
Rhcg |
A |
T |
7: 79,250,371 (GRCm39) |
N237K |
probably damaging |
Het |
Rpgrip1 |
A |
G |
14: 52,397,617 (GRCm39) |
Q1302R |
probably benign |
Het |
Rragc |
A |
G |
4: 123,818,645 (GRCm39) |
M287V |
possibly damaging |
Het |
Scn7a |
A |
G |
2: 66,572,301 (GRCm39) |
|
probably null |
Het |
Sema6a |
C |
T |
18: 47,414,410 (GRCm39) |
C506Y |
probably damaging |
Het |
Senp1 |
G |
T |
15: 97,964,412 (GRCm39) |
H267Q |
possibly damaging |
Het |
Skor2 |
A |
G |
18: 76,946,578 (GRCm39) |
E100G |
unknown |
Het |
Slc38a11 |
A |
T |
2: 65,147,365 (GRCm39) |
C371S |
probably benign |
Het |
Snai3 |
G |
A |
8: 123,181,629 (GRCm39) |
A276V |
probably benign |
Het |
Sp110 |
C |
G |
1: 85,516,839 (GRCm39) |
E219D |
probably damaging |
Het |
Spag6 |
C |
T |
2: 18,720,525 (GRCm39) |
T99I |
probably benign |
Het |
Spop |
A |
G |
11: 95,376,675 (GRCm39) |
I243V |
possibly damaging |
Het |
Sra1 |
A |
T |
18: 36,800,496 (GRCm39) |
|
probably benign |
Het |
Stag3 |
T |
A |
5: 138,288,485 (GRCm39) |
S140T |
possibly damaging |
Het |
Stx16 |
G |
A |
2: 173,935,292 (GRCm39) |
G156R |
probably damaging |
Het |
Tbc1d2b |
G |
C |
9: 90,089,925 (GRCm39) |
A868G |
probably benign |
Het |
Tead2 |
A |
G |
7: 44,870,166 (GRCm39) |
|
probably benign |
Het |
Tmem53 |
C |
A |
4: 117,125,669 (GRCm39) |
H261N |
probably damaging |
Het |
Ube4a |
A |
T |
9: 44,844,627 (GRCm39) |
S932T |
probably damaging |
Het |
Usp9y |
A |
T |
Y: 1,381,339 (GRCm39) |
D827E |
probably damaging |
Het |
Vmn2r53 |
T |
C |
7: 12,334,733 (GRCm39) |
E309G |
probably damaging |
Het |
Wrn |
T |
C |
8: 33,758,806 (GRCm39) |
S1026G |
probably benign |
Het |
Zfp646 |
G |
A |
7: 127,484,626 (GRCm39) |
A1760T |
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 |
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'- TGCTCCTTCAGGATGGTCTCATAG -3'
Sequencing Primer
(F):5'- GACCATGACCTCTCCGTGTG -3'
(R):5'- TCAGGATGGTCTCATAGCCCAC -3'
|
Posted On |
2017-01-03 |