Incidental Mutation 'IGL03232:Gprc5d'
| ID |
413941 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gprc5d
|
| Ensembl Gene |
ENSMUSG00000030205 |
| Gene Name |
G protein-coupled receptor, family C, group 5, member D |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL03232
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
135082989-135095281 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 135093662 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 82
(I82V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107553
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032327]
[ENSMUST00000111922]
|
| AlphaFold |
Q9JIL6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000032327
AA Change: I82V
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000032327
Gene: ENSMUSG00000030205
AA Change: I82V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_3
|
34 |
264 |
3.9e-24 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111922
AA Change: I82V
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000107553
Gene: ENSMUSG00000030205
AA Change: I82V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_3
|
32 |
265 |
1.2e-34 |
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 G protein-coupled receptor family; however, the specific function of this gene has not yet been determined. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akr1c19 |
A |
G |
13: 4,288,462 (GRCm39) |
T147A |
probably damaging |
Het |
| Bdp1 |
A |
G |
13: 100,187,989 (GRCm39) |
L1532S |
probably damaging |
Het |
| Btbd3 |
G |
A |
2: 138,126,063 (GRCm39) |
A416T |
probably damaging |
Het |
| Cacna1e |
C |
T |
1: 154,369,104 (GRCm39) |
R311H |
probably damaging |
Het |
| Cers2 |
T |
G |
3: 95,227,468 (GRCm39) |
V32G |
probably damaging |
Het |
| Cimip2a |
A |
T |
2: 25,111,751 (GRCm39) |
R277* |
probably null |
Het |
| Cog4 |
A |
G |
8: 111,607,314 (GRCm39) |
|
probably null |
Het |
| Crybg3 |
C |
A |
16: 59,350,731 (GRCm39) |
G870C |
probably damaging |
Het |
| Dmxl1 |
C |
T |
18: 50,011,247 (GRCm39) |
H1135Y |
probably benign |
Het |
| Esr1 |
A |
C |
10: 4,919,270 (GRCm39) |
K453N |
probably damaging |
Het |
| H3c3 |
T |
G |
13: 23,929,164 (GRCm39) |
E106A |
probably damaging |
Het |
| Hmcn1 |
A |
G |
1: 150,646,103 (GRCm39) |
|
probably benign |
Het |
| Loxhd1 |
A |
G |
18: 77,496,446 (GRCm39) |
T17A |
probably damaging |
Het |
| Lrp1 |
C |
T |
10: 127,375,245 (GRCm39) |
A4452T |
probably damaging |
Het |
| Morc1 |
A |
G |
16: 48,451,165 (GRCm39) |
E948G |
probably benign |
Het |
| Mug1 |
A |
G |
6: 121,855,494 (GRCm39) |
K943E |
probably benign |
Het |
| Or5b109 |
T |
A |
19: 13,212,341 (GRCm39) |
C242* |
probably null |
Het |
| Or5b12b |
C |
A |
19: 12,861,636 (GRCm39) |
Y130* |
probably null |
Het |
| Or5p73 |
A |
G |
7: 108,064,812 (GRCm39) |
T94A |
probably benign |
Het |
| Rab21 |
T |
C |
10: 115,130,767 (GRCm39) |
|
probably benign |
Het |
| Selenoi |
T |
C |
5: 30,461,259 (GRCm39) |
F140S |
probably damaging |
Het |
| Serpini1 |
T |
C |
3: 75,545,317 (GRCm39) |
|
probably benign |
Het |
| Sgip1 |
T |
C |
4: 102,772,251 (GRCm39) |
|
probably benign |
Het |
| Smc1b |
T |
C |
15: 85,013,921 (GRCm39) |
I83M |
possibly damaging |
Het |
| Smg7 |
T |
C |
1: 152,715,907 (GRCm39) |
Y1061C |
probably damaging |
Het |
| Thbs2 |
A |
T |
17: 14,911,675 (GRCm39) |
M1K |
probably null |
Het |
| Ubqlnl |
A |
G |
7: 103,797,836 (GRCm39) |
S554P |
possibly damaging |
Het |
|
| Other mutations in Gprc5d |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00336:Gprc5d
|
APN |
6 |
135,093,488 (GRCm39) |
nonsense |
probably null |
|
|
IGL02095:Gprc5d
|
APN |
6 |
135,093,175 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02756:Gprc5d
|
APN |
6 |
135,093,613 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03037:Gprc5d
|
APN |
6 |
135,093,319 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0616:Gprc5d
|
UTSW |
6 |
135,093,430 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1351:Gprc5d
|
UTSW |
6 |
135,093,230 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4835:Gprc5d
|
UTSW |
6 |
135,093,515 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5137:Gprc5d
|
UTSW |
6 |
135,093,031 (GRCm39) |
missense |
probably benign |
|
|
R6858:Gprc5d
|
UTSW |
6 |
135,093,313 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R7027:Gprc5d
|
UTSW |
6 |
135,093,646 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7218:Gprc5d
|
UTSW |
6 |
135,093,452 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7711:Gprc5d
|
UTSW |
6 |
135,093,355 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
RF005:Gprc5d
|
UTSW |
6 |
135,093,517 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF024:Gprc5d
|
UTSW |
6 |
135,093,517 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation