Incidental Mutation 'IGL02334:Gpr162'
ID |
288808 |
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: 0.114)
|
Stock # |
IGL02334
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
124835407-124840900 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 124838123 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Cysteine
at position 176
(G176C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000145267
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023958]
[ENSMUST00000024044]
[ENSMUST00000046893]
[ENSMUST00000135127]
[ENSMUST00000204667]
|
AlphaFold |
Q3UN16 |
Predicted Effect |
probably benign
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 |
probably benign
Transcript: ENSMUST00000024044
|
SMART Domains |
Protein: ENSMUSP00000024044 Gene: ENSMUSG00000023274
Domain | Start | End | E-Value | Type |
low complexity region
|
6 |
21 |
N/A |
INTRINSIC |
IGv
|
37 |
114 |
7.02e-8 |
SMART |
IG
|
131 |
206 |
3.63e-1 |
SMART |
IG
|
212 |
317 |
3.36e0 |
SMART |
transmembrane domain
|
394 |
416 |
N/A |
INTRINSIC |
Pfam:Tcell_CD4_C
|
425 |
452 |
2.2e-18 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000046893
AA Change: G176C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000038536 Gene: ENSMUSG00000038390 AA Change: G176C
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 |
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: ENSMUST00000204161
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204253
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000204667
AA Change: G176C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000145267 Gene: ENSMUSG00000038390 AA Change: G176C
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 |
|
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: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ankrd46 |
A |
G |
15: 36,486,079 (GRCm39) |
V58A |
possibly damaging |
Het |
Dhx16 |
A |
G |
17: 36,194,949 (GRCm39) |
E492G |
probably damaging |
Het |
Dock1 |
T |
C |
7: 134,747,294 (GRCm39) |
M1535T |
probably damaging |
Het |
Evpl |
G |
T |
11: 116,121,850 (GRCm39) |
S344* |
probably null |
Het |
F2 |
A |
T |
2: 91,463,439 (GRCm39) |
H148Q |
probably benign |
Het |
Fam83e |
A |
T |
7: 45,373,345 (GRCm39) |
H237L |
probably benign |
Het |
Fscn3 |
A |
T |
6: 28,428,153 (GRCm39) |
|
probably null |
Het |
Icam5 |
A |
G |
9: 20,946,505 (GRCm39) |
D376G |
possibly damaging |
Het |
Ift172 |
T |
C |
5: 31,440,402 (GRCm39) |
K295R |
probably benign |
Het |
Irf3 |
A |
G |
7: 44,648,134 (GRCm39) |
|
probably benign |
Het |
Itga2 |
A |
T |
13: 115,001,845 (GRCm39) |
|
probably null |
Het |
Klhl11 |
A |
T |
11: 100,354,662 (GRCm39) |
D386E |
probably damaging |
Het |
Myh4 |
G |
T |
11: 67,136,373 (GRCm39) |
G417V |
probably damaging |
Het |
Nlrp3 |
A |
G |
11: 59,455,909 (GRCm39) |
T902A |
probably benign |
Het |
Or2y17 |
A |
G |
11: 49,232,018 (GRCm39) |
I220V |
probably benign |
Het |
Or4a72 |
A |
C |
2: 89,405,668 (GRCm39) |
M134R |
possibly damaging |
Het |
Or9g3 |
A |
T |
2: 85,590,503 (GRCm39) |
Y72* |
probably null |
Het |
Phf10 |
T |
C |
17: 15,174,361 (GRCm39) |
Y239C |
probably damaging |
Het |
Pla2g4e |
A |
G |
2: 120,017,717 (GRCm39) |
F203S |
probably benign |
Het |
Pramel1 |
T |
C |
4: 143,124,096 (GRCm39) |
F257S |
probably damaging |
Het |
Prodh2 |
A |
G |
7: 30,205,803 (GRCm39) |
H213R |
probably damaging |
Het |
Rgs7 |
C |
T |
1: 175,016,788 (GRCm39) |
D61N |
probably damaging |
Het |
Rhobtb1 |
T |
A |
10: 69,121,508 (GRCm39) |
|
probably benign |
Het |
Sct |
C |
A |
7: 140,858,530 (GRCm39) |
|
probably null |
Het |
Slc17a9 |
G |
A |
2: 180,382,536 (GRCm39) |
|
probably null |
Het |
Spire1 |
T |
C |
18: 67,639,725 (GRCm39) |
T263A |
probably benign |
Het |
Trpm1 |
A |
T |
7: 63,895,690 (GRCm39) |
|
probably null |
Het |
Trpm7 |
G |
T |
2: 126,649,282 (GRCm39) |
N1469K |
probably benign |
Het |
Zfp750 |
G |
T |
11: 121,402,837 (GRCm39) |
T637K |
probably benign |
Het |
Zswim5 |
T |
C |
4: 116,843,841 (GRCm39) |
C960R |
probably damaging |
Het |
Zwint |
T |
A |
10: 72,490,815 (GRCm39) |
|
probably null |
Het |
|
Other mutations in Gpr162 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01134:Gpr162
|
APN |
6 |
124,835,820 (GRCm39) |
splice site |
probably null |
|
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 |
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 |
2015-04-16 |