Incidental Mutation 'IGL01879:Gpr162'
| ID |
179003 |
| 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 # |
IGL01879
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
124835407-124840900 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 124838204 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 149
(S149P)
|
| 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: S149P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000038536
Gene: ENSMUSG00000038390
AA Change: S149P
| 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: S149P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000145267
Gene: ENSMUSG00000038390
AA Change: S149P
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cgn |
G |
A |
3: 94,681,674 (GRCm39) |
R474* |
probably null |
Het |
| Chmp4b |
T |
C |
2: 154,534,601 (GRCm39) |
|
probably benign |
Het |
| Chst15 |
A |
G |
7: 131,871,994 (GRCm39) |
Y96H |
possibly damaging |
Het |
| Clstn3 |
A |
G |
6: 124,415,769 (GRCm39) |
S638P |
probably damaging |
Het |
| Colq |
C |
T |
14: 31,265,952 (GRCm39) |
G187E |
probably damaging |
Het |
| Cyp2b23 |
A |
G |
7: 26,372,279 (GRCm39) |
Y389H |
probably benign |
Het |
| Cyp3a13 |
T |
C |
5: 137,917,265 (GRCm39) |
Q54R |
probably benign |
Het |
| Dscc1 |
T |
C |
15: 54,950,212 (GRCm39) |
I178V |
probably benign |
Het |
| Fbxo4 |
G |
A |
15: 4,005,436 (GRCm39) |
T148M |
probably damaging |
Het |
| Gm10717 |
A |
T |
9: 3,026,287 (GRCm39) |
Y195F |
probably damaging |
Het |
| Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
| Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
| Grid1 |
T |
A |
14: 35,172,327 (GRCm39) |
I611N |
possibly damaging |
Het |
| Mgat5 |
T |
C |
1: 127,325,287 (GRCm39) |
F385L |
probably damaging |
Het |
| Npepps |
T |
C |
11: 97,149,166 (GRCm39) |
T17A |
possibly damaging |
Het |
| Or4c125 |
T |
C |
2: 89,170,366 (GRCm39) |
I93M |
probably benign |
Het |
| Or4n4b |
A |
G |
14: 50,535,969 (GRCm39) |
S266P |
probably benign |
Het |
| Or5p60 |
A |
T |
7: 107,724,371 (GRCm39) |
I33N |
possibly damaging |
Het |
| Or7g29 |
A |
T |
9: 19,286,703 (GRCm39) |
L158* |
probably null |
Het |
| Parg |
T |
C |
14: 31,993,579 (GRCm39) |
|
probably benign |
Het |
| Rad51ap2 |
A |
G |
12: 11,508,139 (GRCm39) |
D687G |
probably benign |
Het |
| Sh3bp1 |
T |
G |
15: 78,792,192 (GRCm39) |
S450A |
probably damaging |
Het |
| Skap2 |
T |
C |
6: 51,973,014 (GRCm39) |
D90G |
possibly damaging |
Het |
| Smc5 |
C |
T |
19: 23,205,548 (GRCm39) |
R796H |
probably damaging |
Het |
| Tdrd12 |
A |
C |
7: 35,221,348 (GRCm39) |
I146S |
probably damaging |
Het |
| Tinf2 |
T |
C |
14: 55,918,363 (GRCm39) |
|
probably benign |
Het |
| Trio |
G |
A |
15: 27,741,119 (GRCm39) |
T2702I |
probably benign |
Het |
| Vmn1r88 |
T |
A |
7: 12,912,229 (GRCm39) |
M195K |
probably benign |
Het |
| Vmn2r110 |
T |
C |
17: 20,794,122 (GRCm39) |
H849R |
probably benign |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
| Vmn2r4 |
C |
T |
3: 64,298,431 (GRCm39) |
G566R |
probably damaging |
Het |
| Wdpcp |
A |
G |
11: 21,661,630 (GRCm39) |
T301A |
probably damaging |
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 |
|
|
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 |
2014-05-07 |
Incidental Mutation