Incidental Mutation 'IGL01762:Gprc5c'
| ID |
153261 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gprc5c
|
| Ensembl Gene |
ENSMUSG00000051043 |
| Gene Name |
G protein-coupled receptor, family C, group 5, member C |
| Synonyms |
3200002M13Rik, 1110028I06Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.274)
|
| Stock # |
IGL01762
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
114741978-114763443 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 114754850 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 176
(I176V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136702
(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 benign
Transcript: ENSMUST00000021071
AA Change: I176V
PolyPhen 2
Score 0.276 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000021071
Gene: ENSMUSG00000051043
AA Change: I176V
| 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: ENSMUST00000053361
AA Change: I176V
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000061760
Gene: ENSMUSG00000051043
AA Change: I176V
| 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 benign
Transcript: ENSMUST00000136785
AA Change: I176V
PolyPhen 2
Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000116786
Gene: ENSMUSG00000051043
AA Change: I176V
| 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 benign
Transcript: ENSMUST00000177952
AA Change: I176V
PolyPhen 2
Score 0.276 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000136702
Gene: ENSMUSG00000051043
AA Change: I176V
| 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 |
|
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9030612E09Rik |
T |
A |
10: 43,050,847 (GRCm39) |
L47* |
probably null |
Het |
| Abca13 |
A |
T |
11: 9,265,423 (GRCm39) |
T3033S |
probably benign |
Het |
| Atp1a2 |
C |
A |
1: 172,112,480 (GRCm39) |
V503L |
possibly damaging |
Het |
| Cacna1e |
T |
A |
1: 154,347,119 (GRCm39) |
D770V |
possibly damaging |
Het |
| Camkk1 |
A |
G |
11: 72,921,627 (GRCm39) |
|
probably null |
Het |
| Cd34 |
T |
A |
1: 194,621,341 (GRCm39) |
M23K |
probably benign |
Het |
| Cndp1 |
T |
A |
18: 84,640,411 (GRCm39) |
I265F |
probably damaging |
Het |
| Cux2 |
A |
G |
5: 122,011,208 (GRCm39) |
I574T |
probably damaging |
Het |
| Fhdc1 |
G |
A |
3: 84,352,042 (GRCm39) |
A1061V |
possibly damaging |
Het |
| Galk1 |
A |
G |
11: 115,900,834 (GRCm39) |
Y236H |
probably damaging |
Het |
| Gbp11 |
T |
C |
5: 105,475,473 (GRCm39) |
I292V |
probably benign |
Het |
| Hrob |
T |
C |
11: 102,146,422 (GRCm39) |
C233R |
probably benign |
Het |
| Myh6 |
T |
C |
14: 55,199,538 (GRCm39) |
K258E |
probably benign |
Het |
| Niban1 |
T |
C |
1: 151,512,242 (GRCm39) |
V48A |
probably damaging |
Het |
| Nlrp9c |
T |
A |
7: 26,084,850 (GRCm39) |
D243V |
probably damaging |
Het |
| Nobox |
T |
G |
6: 43,280,927 (GRCm39) |
K516Q |
probably damaging |
Het |
| Nudcd3 |
A |
G |
11: 6,100,560 (GRCm39) |
S195P |
probably damaging |
Het |
| Pde10a |
T |
C |
17: 9,161,750 (GRCm39) |
I477T |
possibly damaging |
Het |
| Pgbd5 |
C |
T |
8: 125,097,349 (GRCm39) |
A394T |
probably damaging |
Het |
| Piezo1 |
G |
A |
8: 123,214,668 (GRCm39) |
R1553* |
probably null |
Het |
| Prkd1 |
T |
C |
12: 50,434,013 (GRCm39) |
I577V |
probably benign |
Het |
| Prss34 |
T |
C |
17: 25,518,786 (GRCm39) |
I256T |
probably benign |
Het |
| Ptprg |
A |
G |
14: 12,037,386 (GRCm38) |
T189A |
probably benign |
Het |
| Ptprr |
C |
T |
10: 116,072,638 (GRCm39) |
T200I |
probably damaging |
Het |
| Samd8 |
C |
T |
14: 21,830,168 (GRCm39) |
P198L |
probably damaging |
Het |
| Sema3c |
T |
C |
5: 17,899,849 (GRCm39) |
L447P |
possibly damaging |
Het |
| Slc22a23 |
A |
T |
13: 34,387,984 (GRCm39) |
F371I |
possibly damaging |
Het |
| Slc2a2 |
A |
G |
3: 28,771,621 (GRCm39) |
R184G |
probably damaging |
Het |
| Slitrk6 |
T |
A |
14: 110,989,056 (GRCm39) |
D217V |
probably damaging |
Het |
| Tlr2 |
A |
G |
3: 83,744,301 (GRCm39) |
V594A |
probably benign |
Het |
| Vmn2r109 |
A |
G |
17: 20,774,654 (GRCm39) |
F234L |
probably benign |
Het |
| Vmn2r12 |
A |
C |
5: 109,234,430 (GRCm39) |
L594R |
probably damaging |
Het |
| Vmn2r124 |
A |
G |
17: 18,283,434 (GRCm39) |
Q376R |
possibly damaging |
Het |
| Vmn2r7 |
T |
C |
3: 64,598,856 (GRCm39) |
D567G |
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 |
|
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 |
|
R8543:Gprc5c
|
UTSW |
11 |
114,755,094 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2014-02-04 |
Incidental Mutation