Incidental Mutation 'IGL01134:Gpr162'
ID |
51367 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Gpr162
|
Ensembl Gene |
ENSMUSG00000038390 |
Gene Name |
G protein-coupled receptor 162 |
Synonyms |
Grca, A-2 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.119)
|
Stock # |
IGL01134
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
124835407-124840900 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to C
at 124835820 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000023958
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023958]
[ENSMUST00000046893]
[ENSMUST00000135127]
[ENSMUST00000204667]
|
AlphaFold |
Q3UN16 |
Predicted Effect |
probably null
Transcript: ENSMUST00000023958
|
SMART Domains |
Protein: ENSMUSP00000023958 Gene: ENSMUSG00000023191
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
low complexity region
|
58 |
76 |
N/A |
INTRINSIC |
low complexity region
|
127 |
142 |
N/A |
INTRINSIC |
low complexity region
|
222 |
242 |
N/A |
INTRINSIC |
low complexity region
|
256 |
277 |
N/A |
INTRINSIC |
P4Hc
|
460 |
670 |
8.51e-49 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000046893
AA Change: R527G
PolyPhen 2
Score 0.682 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000038536 Gene: ENSMUSG00000038390 AA Change: R527G
Domain | Start | End | E-Value | Type |
Pfam:7tm_1
|
30 |
337 |
1.1e-19 |
PFAM |
low complexity region
|
348 |
362 |
N/A |
INTRINSIC |
low complexity region
|
462 |
477 |
N/A |
INTRINSIC |
low complexity region
|
482 |
504 |
N/A |
INTRINSIC |
low complexity region
|
513 |
540 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129225
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000135127
|
SMART Domains |
Protein: ENSMUSP00000116338 Gene: ENSMUSG00000023191
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
low complexity region
|
58 |
76 |
N/A |
INTRINSIC |
low complexity region
|
127 |
142 |
N/A |
INTRINSIC |
low complexity region
|
222 |
242 |
N/A |
INTRINSIC |
low complexity region
|
256 |
277 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135546
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149870
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204161
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000204667
AA Change: R527G
PolyPhen 2
Score 0.682 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000145267 Gene: ENSMUSG00000038390 AA Change: R527G
Domain | Start | End | E-Value | Type |
Pfam:7tm_1
|
30 |
337 |
1.1e-19 |
PFAM |
low complexity region
|
348 |
362 |
N/A |
INTRINSIC |
low complexity region
|
462 |
477 |
N/A |
INTRINSIC |
low complexity region
|
482 |
504 |
N/A |
INTRINSIC |
low complexity region
|
513 |
540 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204253
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene was identified upon genomic analysis of a gene-dense region at human chromosome 12p13. It appears to be mainly expressed in the brain; however, its function is not known. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110038F14Rik |
G |
A |
15: 76,834,475 (GRCm39) |
V124I |
probably damaging |
Het |
Acaca |
T |
G |
11: 84,142,105 (GRCm39) |
H637Q |
probably benign |
Het |
Aen |
G |
A |
7: 78,557,050 (GRCm39) |
M299I |
probably damaging |
Het |
Akap6 |
C |
A |
12: 52,984,000 (GRCm39) |
A848E |
probably damaging |
Het |
Cxxc4 |
A |
G |
3: 133,946,420 (GRCm39) |
I334V |
probably null |
Het |
Cyp2b13 |
T |
A |
7: 25,781,125 (GRCm39) |
I179N |
probably damaging |
Het |
Cyp2d40 |
C |
A |
15: 82,645,102 (GRCm39) |
A183S |
unknown |
Het |
Cyp2g1 |
A |
G |
7: 26,509,256 (GRCm39) |
N110S |
probably benign |
Het |
F5 |
A |
T |
1: 164,019,548 (GRCm39) |
R674S |
possibly damaging |
Het |
Fnip2 |
G |
T |
3: 79,419,810 (GRCm39) |
Y155* |
probably null |
Het |
Fut9 |
G |
T |
4: 25,620,446 (GRCm39) |
Q123K |
probably benign |
Het |
Gda |
A |
G |
19: 21,394,429 (GRCm39) |
S143P |
probably damaging |
Het |
Hsf2bp |
A |
G |
17: 32,206,378 (GRCm39) |
L251S |
probably damaging |
Het |
Hsh2d |
A |
T |
8: 72,947,375 (GRCm39) |
D24V |
probably damaging |
Het |
Htr1f |
T |
A |
16: 64,746,501 (GRCm39) |
T264S |
probably benign |
Het |
Med12l |
G |
A |
3: 58,949,696 (GRCm39) |
E151K |
possibly damaging |
Het |
Mgat3 |
C |
A |
15: 80,096,377 (GRCm39) |
N401K |
probably benign |
Het |
Mmp27 |
T |
G |
9: 7,573,298 (GRCm39) |
M130R |
probably benign |
Het |
Mroh2b |
T |
A |
15: 4,944,634 (GRCm39) |
S412T |
probably benign |
Het |
Mrps9 |
A |
G |
1: 42,942,557 (GRCm39) |
I338M |
probably damaging |
Het |
Mtmr4 |
C |
T |
11: 87,494,893 (GRCm39) |
T395M |
probably damaging |
Het |
Nlrp9b |
A |
G |
7: 19,757,112 (GRCm39) |
I116M |
probably benign |
Het |
Nqo1 |
T |
C |
8: 108,115,587 (GRCm39) |
D230G |
probably benign |
Het |
Pcnx2 |
C |
T |
8: 126,589,889 (GRCm39) |
V795I |
probably benign |
Het |
Pde8a |
G |
A |
7: 80,968,826 (GRCm39) |
R449Q |
possibly damaging |
Het |
Scn9a |
A |
G |
2: 66,335,312 (GRCm39) |
Y1226H |
probably damaging |
Het |
Sema3e |
A |
G |
5: 14,302,784 (GRCm39) |
R770G |
probably damaging |
Het |
Smr2 |
T |
C |
5: 88,256,378 (GRCm39) |
S19P |
probably damaging |
Het |
Trank1 |
T |
C |
9: 111,220,849 (GRCm39) |
S2529P |
probably benign |
Het |
Uspl1 |
T |
A |
5: 149,141,103 (GRCm39) |
F367L |
probably damaging |
Het |
Vps41 |
A |
G |
13: 19,050,320 (GRCm39) |
S838G |
probably benign |
Het |
Ythdf2 |
A |
T |
4: 131,932,789 (GRCm39) |
F124I |
probably damaging |
Het |
|
Other mutations in Gpr162 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01879:Gpr162
|
APN |
6 |
124,838,204 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01901:Gpr162
|
APN |
6 |
124,838,370 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL01930:Gpr162
|
APN |
6 |
124,838,575 (GRCm39) |
missense |
possibly damaging |
0.82 |
IGL02334:Gpr162
|
APN |
6 |
124,838,123 (GRCm39) |
missense |
probably damaging |
1.00 |
R1036:Gpr162
|
UTSW |
6 |
124,837,823 (GRCm39) |
missense |
probably damaging |
0.99 |
R1322:Gpr162
|
UTSW |
6 |
124,835,864 (GRCm39) |
missense |
probably damaging |
0.96 |
R1351:Gpr162
|
UTSW |
6 |
124,838,161 (GRCm39) |
missense |
probably damaging |
1.00 |
R1549:Gpr162
|
UTSW |
6 |
124,837,051 (GRCm39) |
missense |
probably damaging |
1.00 |
R1933:Gpr162
|
UTSW |
6 |
124,838,410 (GRCm39) |
missense |
probably damaging |
0.98 |
R4214:Gpr162
|
UTSW |
6 |
124,837,031 (GRCm39) |
missense |
probably damaging |
1.00 |
R4367:Gpr162
|
UTSW |
6 |
124,838,658 (GRCm39) |
start gained |
probably benign |
|
R4628:Gpr162
|
UTSW |
6 |
124,838,405 (GRCm39) |
missense |
probably benign |
0.03 |
R5290:Gpr162
|
UTSW |
6 |
124,838,232 (GRCm39) |
missense |
probably benign |
0.17 |
R5354:Gpr162
|
UTSW |
6 |
124,836,600 (GRCm39) |
missense |
probably benign |
0.06 |
R5404:Gpr162
|
UTSW |
6 |
124,838,606 (GRCm39) |
missense |
possibly damaging |
0.73 |
R5465:Gpr162
|
UTSW |
6 |
124,838,134 (GRCm39) |
missense |
probably damaging |
1.00 |
R5520:Gpr162
|
UTSW |
6 |
124,837,876 (GRCm39) |
missense |
probably damaging |
1.00 |
R5566:Gpr162
|
UTSW |
6 |
124,837,901 (GRCm39) |
nonsense |
probably null |
|
R6184:Gpr162
|
UTSW |
6 |
124,838,204 (GRCm39) |
missense |
probably damaging |
1.00 |
R6450:Gpr162
|
UTSW |
6 |
124,838,152 (GRCm39) |
missense |
possibly damaging |
0.84 |
R6685:Gpr162
|
UTSW |
6 |
124,838,494 (GRCm39) |
missense |
probably damaging |
1.00 |
R6807:Gpr162
|
UTSW |
6 |
124,838,164 (GRCm39) |
missense |
probably damaging |
0.97 |
R6972:Gpr162
|
UTSW |
6 |
124,838,272 (GRCm39) |
missense |
probably damaging |
0.99 |
R6982:Gpr162
|
UTSW |
6 |
124,837,919 (GRCm39) |
missense |
probably damaging |
1.00 |
R7543:Gpr162
|
UTSW |
6 |
124,838,355 (GRCm39) |
nonsense |
probably null |
|
R7650:Gpr162
|
UTSW |
6 |
124,838,806 (GRCm39) |
start gained |
probably benign |
|
R8974:Gpr162
|
UTSW |
6 |
124,837,876 (GRCm39) |
missense |
probably damaging |
1.00 |
R9096:Gpr162
|
UTSW |
6 |
124,836,570 (GRCm39) |
missense |
probably benign |
0.11 |
R9097:Gpr162
|
UTSW |
6 |
124,836,570 (GRCm39) |
missense |
probably benign |
0.11 |
R9233:Gpr162
|
UTSW |
6 |
124,836,014 (GRCm39) |
missense |
possibly damaging |
0.68 |
R9356:Gpr162
|
UTSW |
6 |
124,838,297 (GRCm39) |
missense |
possibly damaging |
0.71 |
R9389:Gpr162
|
UTSW |
6 |
124,838,357 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2013-06-21 |