Incidental Mutation 'R5404:Gpr162'
ID |
428624 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gpr162
|
Ensembl Gene |
ENSMUSG00000038390 |
Gene Name |
G protein-coupled receptor 162 |
Synonyms |
Grca, A-2 |
MMRRC Submission |
042975-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.114)
|
Stock # |
R5404 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
124835407-124840900 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 124838606 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 15
(S15P)
|
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 |
possibly damaging
Transcript: ENSMUST00000046893
AA Change: S15P
PolyPhen 2
Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000038536 Gene: ENSMUSG00000038390 AA Change: S15P
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: ENSMUST00000145977
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204161
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204253
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000204667
AA Change: S15P
PolyPhen 2
Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000145267 Gene: ENSMUSG00000038390 AA Change: S15P
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 |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.0%
|
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: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A1bg |
T |
C |
15: 60,791,545 (GRCm39) |
H297R |
probably benign |
Het |
Ccnk |
A |
T |
12: 108,161,882 (GRCm39) |
K262N |
possibly damaging |
Het |
Clec4b2 |
A |
T |
6: 123,158,308 (GRCm39) |
Y58F |
probably benign |
Het |
Cp |
A |
C |
3: 20,043,292 (GRCm39) |
T1027P |
possibly damaging |
Het |
Cpox |
G |
A |
16: 58,495,649 (GRCm39) |
G322D |
probably damaging |
Het |
Cry1 |
T |
C |
10: 85,020,283 (GRCm39) |
N18S |
probably damaging |
Het |
Dnah8 |
G |
A |
17: 30,967,542 (GRCm39) |
D2585N |
probably benign |
Het |
Dock10 |
A |
G |
1: 80,481,630 (GRCm39) |
|
probably benign |
Het |
Fance |
A |
T |
17: 28,537,034 (GRCm39) |
R58W |
probably null |
Het |
Fermt1 |
T |
C |
2: 132,776,789 (GRCm39) |
D233G |
possibly damaging |
Het |
Gabpa |
T |
A |
16: 84,657,351 (GRCm39) |
Y409N |
probably damaging |
Het |
Grid2 |
T |
A |
6: 63,907,894 (GRCm39) |
I178N |
probably damaging |
Het |
Il17re |
T |
C |
6: 113,446,063 (GRCm39) |
V233A |
probably benign |
Het |
Lemd3 |
G |
A |
10: 120,767,863 (GRCm39) |
Q672* |
probably null |
Het |
Myh15 |
A |
G |
16: 48,980,341 (GRCm39) |
T1488A |
probably benign |
Het |
Narf |
T |
A |
11: 121,133,452 (GRCm39) |
H84Q |
probably benign |
Het |
Nedd1 |
C |
T |
10: 92,552,054 (GRCm39) |
V69I |
probably benign |
Het |
Nfil3 |
G |
A |
13: 53,122,091 (GRCm39) |
S271F |
probably damaging |
Het |
Npc1 |
A |
G |
18: 12,346,356 (GRCm39) |
L280P |
possibly damaging |
Het |
Or2n1e |
T |
A |
17: 38,586,517 (GRCm39) |
L285* |
probably null |
Het |
Or4p20 |
C |
T |
2: 88,254,145 (GRCm39) |
V75M |
probably damaging |
Het |
Or51a25 |
T |
A |
7: 102,372,807 (GRCm39) |
I297F |
possibly damaging |
Het |
Poli |
A |
G |
18: 70,642,503 (GRCm39) |
S503P |
probably benign |
Het |
Rbm5 |
T |
C |
9: 107,642,752 (GRCm39) |
E94G |
probably damaging |
Het |
Robo4 |
CGG |
CG |
9: 37,322,786 (GRCm39) |
|
probably null |
Het |
Rps6ka5 |
T |
C |
12: 100,582,352 (GRCm39) |
I173M |
probably damaging |
Het |
Slc40a1 |
A |
G |
1: 45,951,488 (GRCm39) |
L223P |
probably damaging |
Het |
Smg1 |
T |
C |
7: 117,806,131 (GRCm39) |
K213E |
probably damaging |
Het |
Spem1 |
T |
A |
11: 69,711,763 (GRCm39) |
K300N |
probably damaging |
Het |
Tchh |
A |
G |
3: 93,354,982 (GRCm39) |
E1474G |
unknown |
Het |
Tenm4 |
A |
T |
7: 96,543,887 (GRCm39) |
R1968W |
probably damaging |
Het |
Tshz2 |
A |
T |
2: 169,726,240 (GRCm39) |
M279L |
probably benign |
Het |
Tuba3a |
G |
T |
6: 125,258,555 (GRCm39) |
T145K |
possibly 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 |
|
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- ATAGTCAGAGGAAGCCTGGC -3'
(R):5'- CATGCAATGCTGAGAAGTAAGC -3'
Sequencing Primer
(F):5'- AGTAACTCCAGTGGCTTG -3'
(R):5'- CAAGACTTGGGGTCAGCTTGC -3'
|
Posted On |
2016-09-06 |