Incidental Mutation 'R1351:Gpr162'
ID |
156651 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gpr162
|
Ensembl Gene |
ENSMUSG00000038390 |
Gene Name |
G protein-coupled receptor 162 |
Synonyms |
Grca, A-2 |
MMRRC Submission |
039416-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.114)
|
Stock # |
R1351 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
124835407-124840900 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 124838161 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 163
(Y163C)
|
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: Y163C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000038536 Gene: ENSMUSG00000038390 AA Change: Y163C
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: Y163C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000145267 Gene: ENSMUSG00000038390 AA Change: Y163C
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 |
|
Meta Mutation Damage Score |
0.1437 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 95.0%
|
Validation Efficiency |
100% (51/51) |
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: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arhgef26 |
A |
G |
3: 62,288,262 (GRCm39) |
E444G |
probably damaging |
Het |
Astl |
G |
A |
2: 127,189,105 (GRCm39) |
V144M |
possibly damaging |
Het |
AW146154 |
A |
T |
7: 41,129,878 (GRCm39) |
C413S |
probably damaging |
Het |
Bicdl2 |
G |
A |
17: 23,886,519 (GRCm39) |
|
probably benign |
Het |
Cacna1h |
G |
T |
17: 25,610,925 (GRCm39) |
S624R |
probably benign |
Het |
Car9 |
G |
T |
4: 43,512,439 (GRCm39) |
|
probably null |
Het |
Cep126 |
C |
T |
9: 8,100,087 (GRCm39) |
E816K |
probably damaging |
Het |
Cyp2j13 |
T |
C |
4: 95,945,155 (GRCm39) |
K291R |
probably benign |
Het |
Defb26 |
A |
T |
2: 152,349,737 (GRCm39) |
M181K |
unknown |
Het |
Dicer1 |
G |
A |
12: 104,695,401 (GRCm39) |
R177C |
probably damaging |
Het |
Eif4g2 |
A |
G |
7: 110,673,287 (GRCm39) |
Y831H |
probably damaging |
Het |
Ermap |
C |
T |
4: 119,038,558 (GRCm39) |
|
probably null |
Het |
Fcamr |
C |
T |
1: 130,740,757 (GRCm39) |
T392I |
possibly damaging |
Het |
Fgf3 |
T |
C |
7: 144,394,517 (GRCm39) |
|
probably benign |
Het |
Gprc5d |
T |
C |
6: 135,093,230 (GRCm39) |
R226G |
possibly damaging |
Het |
Hapln3 |
A |
C |
7: 78,771,708 (GRCm39) |
S60R |
probably damaging |
Het |
Hif1a |
T |
C |
12: 73,987,235 (GRCm39) |
S443P |
probably benign |
Het |
Irf2bpl |
A |
G |
12: 86,929,398 (GRCm39) |
M425T |
probably benign |
Het |
Lrrc39 |
G |
T |
3: 116,359,469 (GRCm39) |
A5S |
possibly damaging |
Het |
Mbtps1 |
A |
G |
8: 120,244,901 (GRCm39) |
L850S |
possibly damaging |
Het |
Mios |
T |
A |
6: 8,228,120 (GRCm39) |
M679K |
possibly damaging |
Het |
Mocos |
T |
C |
18: 24,793,107 (GRCm39) |
F68S |
probably damaging |
Het |
Nuf2 |
T |
C |
1: 169,338,118 (GRCm39) |
|
probably benign |
Het |
Or51k1 |
A |
G |
7: 103,661,523 (GRCm39) |
Y129H |
possibly damaging |
Het |
Orc1 |
T |
A |
4: 108,452,564 (GRCm39) |
D146E |
probably benign |
Het |
Pcdhb22 |
T |
C |
18: 37,651,627 (GRCm39) |
F32L |
probably benign |
Het |
Pde4d |
G |
T |
13: 110,087,809 (GRCm39) |
E562D |
possibly damaging |
Het |
Pgk2 |
T |
C |
17: 40,518,691 (GRCm39) |
K246E |
probably damaging |
Het |
Plekhh2 |
A |
T |
17: 84,884,574 (GRCm39) |
|
probably benign |
Het |
Pou3f2 |
A |
T |
4: 22,487,162 (GRCm39) |
C324S |
probably damaging |
Het |
Prkdc |
C |
T |
16: 15,485,564 (GRCm39) |
L464F |
possibly damaging |
Het |
Prrc2a |
T |
C |
17: 35,376,863 (GRCm39) |
H749R |
possibly damaging |
Het |
Rad18 |
T |
C |
6: 112,597,863 (GRCm39) |
N218S |
possibly damaging |
Het |
Rbm11 |
T |
C |
16: 75,393,531 (GRCm39) |
Y76H |
possibly damaging |
Het |
Rif1 |
T |
G |
2: 52,001,567 (GRCm39) |
Y1674D |
possibly damaging |
Het |
Rrp1b |
A |
G |
17: 32,275,611 (GRCm39) |
H386R |
possibly damaging |
Het |
Sacs |
T |
C |
14: 61,440,210 (GRCm39) |
V752A |
probably benign |
Het |
Sema3c |
A |
G |
5: 17,883,334 (GRCm39) |
D314G |
possibly damaging |
Het |
Spata2l |
G |
A |
8: 123,960,072 (GRCm39) |
R406C |
probably damaging |
Het |
Tacc2 |
C |
T |
7: 130,264,733 (GRCm39) |
|
probably benign |
Het |
Tent4b |
C |
A |
8: 88,927,002 (GRCm39) |
Y137* |
probably null |
Het |
Trpc4 |
A |
G |
3: 54,102,423 (GRCm39) |
E107G |
probably damaging |
Het |
Vmn2r70 |
A |
G |
7: 85,214,262 (GRCm39) |
S297P |
probably damaging |
Het |
Xdh |
A |
G |
17: 74,230,073 (GRCm39) |
I286T |
probably benign |
Het |
Zfp608 |
T |
C |
18: 55,031,463 (GRCm39) |
T826A |
probably benign |
Het |
Zfp646 |
T |
A |
7: 127,482,683 (GRCm39) |
V1620E |
probably benign |
Het |
Zfyve28 |
T |
G |
5: 34,389,549 (GRCm39) |
D217A |
probably damaging |
Het |
Zmym6 |
G |
A |
4: 127,016,798 (GRCm39) |
G768R |
probably benign |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TCGAGTATCCTCCACCACAATGGC -3'
(R):5'- CTATGACTGGAACGAGAGCATCTGC -3'
Sequencing Primer
(F):5'- TGGCTGGCACCTCAAAAG -3'
(R):5'- CGAGAGCATCTGCAAGGTC -3'
|
Posted On |
2014-02-11 |