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 |
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.372)
|
| Stock # |
IGL01762
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
114851152-114872617 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 114864024 bp (GRCm38)
|
| 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: 43,174,851 |
L47* |
probably null |
Het |
| Abca13 |
A |
T |
11: 9,315,423 |
T3033S |
probably benign |
Het |
| Atp1a2 |
C |
A |
1: 172,284,913 |
V503L |
possibly damaging |
Het |
| BC030867 |
T |
C |
11: 102,255,596 |
C233R |
probably benign |
Het |
| Cacna1e |
T |
A |
1: 154,471,373 |
D770V |
possibly damaging |
Het |
| Camkk1 |
A |
G |
11: 73,030,801 |
|
probably null |
Het |
| Cd34 |
T |
A |
1: 194,939,033 |
M23K |
probably benign |
Het |
| Cndp1 |
T |
A |
18: 84,622,286 |
I265F |
probably damaging |
Het |
| Cux2 |
A |
G |
5: 121,873,145 |
I574T |
probably damaging |
Het |
| Fam129a |
T |
C |
1: 151,636,491 |
V48A |
probably damaging |
Het |
| Fhdc1 |
G |
A |
3: 84,444,735 |
A1061V |
possibly damaging |
Het |
| Galk1 |
A |
G |
11: 116,010,008 |
Y236H |
probably damaging |
Het |
| Gbp11 |
T |
C |
5: 105,327,607 |
I292V |
probably benign |
Het |
| Myh6 |
T |
C |
14: 54,962,081 |
K258E |
probably benign |
Het |
| Nlrp9c |
T |
A |
7: 26,385,425 |
D243V |
probably damaging |
Het |
| Nobox |
T |
G |
6: 43,303,993 |
K516Q |
probably damaging |
Het |
| Nudcd3 |
A |
G |
11: 6,150,560 |
S195P |
probably damaging |
Het |
| Pde10a |
T |
C |
17: 8,942,918 |
I477T |
possibly damaging |
Het |
| Pgbd5 |
C |
T |
8: 124,370,610 |
A394T |
probably damaging |
Het |
| Piezo1 |
G |
A |
8: 122,487,929 |
R1553* |
probably null |
Het |
| Prkd1 |
T |
C |
12: 50,387,230 |
I577V |
probably benign |
Het |
| Prss34 |
T |
C |
17: 25,299,812 |
I256T |
probably benign |
Het |
| Ptprg |
A |
G |
14: 12,037,386 |
T189A |
probably benign |
Het |
| Ptprr |
C |
T |
10: 116,236,733 |
T200I |
probably damaging |
Het |
| Samd8 |
C |
T |
14: 21,780,100 |
P198L |
probably damaging |
Het |
| Sema3c |
T |
C |
5: 17,694,851 |
L447P |
possibly damaging |
Het |
| Slc22a23 |
A |
T |
13: 34,204,001 |
F371I |
possibly damaging |
Het |
| Slc2a2 |
A |
G |
3: 28,717,472 |
R184G |
probably damaging |
Het |
| Slitrk6 |
T |
A |
14: 110,751,624 |
D217V |
probably damaging |
Het |
| Tlr2 |
A |
G |
3: 83,836,994 |
V594A |
probably benign |
Het |
| Vmn2r109 |
A |
G |
17: 20,554,392 |
F234L |
probably benign |
Het |
| Vmn2r12 |
A |
C |
5: 109,086,564 |
L594R |
probably damaging |
Het |
| Vmn2r124 |
A |
G |
17: 18,063,172 |
Q376R |
possibly damaging |
Het |
| Vmn2r7 |
T |
C |
3: 64,691,435 |
D567G |
probably benign |
Het |
|
| Other mutations in Gprc5c |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01599:Gprc5c
|
APN |
11 |
114864252 |
missense |
probably benign |
0.01 |
|
IGL02039:Gprc5c
|
APN |
11 |
114864486 |
nonsense |
probably null |
|
|
R0800:Gprc5c
|
UTSW |
11 |
114866711 |
missense |
probably damaging |
0.99 |
|
R1618:Gprc5c
|
UTSW |
11 |
114864394 |
missense |
possibly damaging |
0.88 |
|
R4198:Gprc5c
|
UTSW |
11 |
114863860 |
missense |
probably damaging |
1.00 |
|
R4807:Gprc5c
|
UTSW |
11 |
114864498 |
missense |
probably damaging |
0.97 |
|
R4846:Gprc5c
|
UTSW |
11 |
114864267 |
missense |
possibly damaging |
0.92 |
|
R4902:Gprc5c
|
UTSW |
11 |
114864267 |
missense |
possibly damaging |
0.92 |
|
R4904:Gprc5c
|
UTSW |
11 |
114864267 |
missense |
possibly damaging |
0.92 |
|
R5016:Gprc5c
|
UTSW |
11 |
114864267 |
missense |
possibly damaging |
0.92 |
|
R5048:Gprc5c
|
UTSW |
11 |
114870351 |
makesense |
probably null |
|
|
R5106:Gprc5c
|
UTSW |
11 |
114864267 |
missense |
possibly damaging |
0.92 |
|
R5109:Gprc5c
|
UTSW |
11 |
114864267 |
missense |
possibly damaging |
0.92 |
|
R5173:Gprc5c
|
UTSW |
11 |
114864267 |
missense |
possibly damaging |
0.92 |
|
R5266:Gprc5c
|
UTSW |
11 |
114864267 |
missense |
possibly damaging |
0.92 |
|
R5267:Gprc5c
|
UTSW |
11 |
114864267 |
missense |
possibly damaging |
0.92 |
|
R5475:Gprc5c
|
UTSW |
11 |
114864267 |
missense |
possibly damaging |
0.92 |
|
R5508:Gprc5c
|
UTSW |
11 |
114864267 |
missense |
possibly damaging |
0.92 |
|
R5557:Gprc5c
|
UTSW |
11 |
114864267 |
missense |
possibly damaging |
0.92 |
|
R5562:Gprc5c
|
UTSW |
11 |
114864267 |
missense |
possibly damaging |
0.92 |
|
R5563:Gprc5c
|
UTSW |
11 |
114864267 |
missense |
possibly damaging |
0.92 |
|
R5598:Gprc5c
|
UTSW |
11 |
114864267 |
missense |
possibly damaging |
0.92 |
|
R5599:Gprc5c
|
UTSW |
11 |
114864267 |
missense |
possibly damaging |
0.92 |
|
R5729:Gprc5c
|
UTSW |
11 |
114864267 |
missense |
possibly damaging |
0.92 |
|
R5756:Gprc5c
|
UTSW |
11 |
114864267 |
missense |
possibly damaging |
0.92 |
|
R5792:Gprc5c
|
UTSW |
11 |
114864267 |
missense |
possibly damaging |
0.92 |
|
R5793:Gprc5c
|
UTSW |
11 |
114864267 |
missense |
possibly damaging |
0.92 |
|
R5794:Gprc5c
|
UTSW |
11 |
114864267 |
missense |
possibly damaging |
0.92 |
|
R5817:Gprc5c
|
UTSW |
11 |
114863624 |
nonsense |
probably null |
|
|
R5976:Gprc5c
|
UTSW |
11 |
114864487 |
missense |
possibly damaging |
0.89 |
|
R6151:Gprc5c
|
UTSW |
11 |
114864025 |
missense |
probably damaging |
1.00 |
|
R6617:Gprc5c
|
UTSW |
11 |
114864105 |
missense |
probably benign |
0.05 |
|
R7108:Gprc5c
|
UTSW |
11 |
114864282 |
missense |
probably damaging |
1.00 |
|
R7191:Gprc5c
|
UTSW |
11 |
114868617 |
missense |
possibly damaging |
0.56 |
|
R7796:Gprc5c
|
UTSW |
11 |
114864532 |
missense |
probably damaging |
0.97 |
|
R8543:Gprc5c
|
UTSW |
11 |
114864268 |
missense |
probably damaging |
1.00 |
|
| Posted On |
2014-02-04 |
Incidental Mutation