Incidental Mutation 'IGL00473:Gpr15'
| ID |
11098 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gpr15
|
| Ensembl Gene |
ENSMUSG00000047293 |
| Gene Name |
G protein-coupled receptor 15 |
| Synonyms |
4933439K08Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00473
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
58537796-58539433 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 58538441 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Tyrosine
at position 216
(C216Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000086731
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089318]
|
| AlphaFold |
Q0VDU3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000089318
AA Change: C216Y
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000086731
Gene: ENSMUSG00000047293
AA Change: C216Y
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
50 |
302 |
1.3e-46 |
PFAM |
|
Pfam:7TM_GPCR_Srv
|
66 |
317 |
7.1e-9 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231342
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232532
|
| 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 encodes a G protein-coupled receptor that acts as a chemokine receptor for human immunodeficiency virus type 1 and 2. The encoded protein localizes to the cell membrane. [provided by RefSeq, Nov 2012]
PHENOTYPE: Mice homozygous for a a knock-out allele exhibit impaired regulatory T cell homing in the large intestine mucosa. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arcn1 |
A |
G |
9: 44,668,444 (GRCm39) |
V264A |
probably benign |
Het |
| Asap1 |
T |
C |
15: 64,045,064 (GRCm39) |
|
probably benign |
Het |
| Brpf1 |
A |
C |
6: 113,293,645 (GRCm39) |
Q571H |
probably damaging |
Het |
| C9orf72 |
C |
T |
4: 35,213,616 (GRCm39) |
G178E |
possibly damaging |
Het |
| Creb3 |
G |
T |
4: 43,565,517 (GRCm39) |
R232L |
probably benign |
Het |
| Cst5 |
G |
T |
2: 149,247,293 (GRCm39) |
S3I |
unknown |
Het |
| Cyp4a14 |
A |
G |
4: 115,347,149 (GRCm39) |
|
probably benign |
Het |
| Daxx |
C |
T |
17: 34,130,581 (GRCm39) |
Q199* |
probably null |
Het |
| Eml5 |
A |
G |
12: 98,771,751 (GRCm39) |
|
probably benign |
Het |
| Gbp6 |
T |
A |
5: 105,422,145 (GRCm39) |
K520* |
probably null |
Het |
| Gcfc2 |
T |
A |
6: 81,921,355 (GRCm39) |
C454S |
probably damaging |
Het |
| Gm9894 |
T |
A |
13: 67,913,236 (GRCm39) |
|
noncoding transcript |
Het |
| Gzmn |
T |
C |
14: 56,404,436 (GRCm39) |
K134E |
probably benign |
Het |
| Kat2b |
T |
G |
17: 53,970,651 (GRCm39) |
I679S |
possibly damaging |
Het |
| Klhl10 |
A |
G |
11: 100,347,240 (GRCm39) |
Y478C |
probably damaging |
Het |
| Mapt |
A |
G |
11: 104,178,009 (GRCm39) |
D54G |
probably damaging |
Het |
| Mocs1 |
A |
G |
17: 49,740,229 (GRCm39) |
E52G |
probably benign |
Het |
| Plekhn1 |
T |
G |
4: 156,307,820 (GRCm39) |
T369P |
probably damaging |
Het |
| Prdm6 |
T |
A |
18: 53,673,357 (GRCm39) |
F172L |
probably benign |
Het |
| Prl7b1 |
A |
T |
13: 27,788,573 (GRCm39) |
V94D |
probably damaging |
Het |
| Rasal2 |
T |
C |
1: 156,975,387 (GRCm39) |
T1116A |
probably benign |
Het |
| Rreb1 |
A |
T |
13: 38,114,767 (GRCm39) |
K709* |
probably null |
Het |
| Ruvbl1 |
A |
T |
6: 88,468,550 (GRCm39) |
R357W |
probably damaging |
Het |
| Slc4a5 |
T |
C |
6: 83,273,579 (GRCm39) |
L973P |
probably damaging |
Het |
| Srp72 |
A |
G |
5: 77,132,023 (GRCm39) |
Y234C |
probably damaging |
Het |
| Synrg |
G |
A |
11: 83,930,072 (GRCm39) |
M1070I |
probably damaging |
Het |
| Zan |
A |
T |
5: 137,462,512 (GRCm39) |
I889K |
possibly damaging |
Het |
| Zbtb40 |
G |
A |
4: 136,714,651 (GRCm39) |
T1046M |
probably damaging |
Het |
| Zfp978 |
A |
G |
4: 147,475,317 (GRCm39) |
N288S |
probably benign |
Het |
| Zfpm2 |
A |
T |
15: 40,962,683 (GRCm39) |
K247M |
probably damaging |
Het |
|
| Other mutations in Gpr15 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02616:Gpr15
|
APN |
16 |
58,538,567 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03381:Gpr15
|
APN |
16 |
58,538,339 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4418001:Gpr15
|
UTSW |
16 |
58,538,313 (GRCm39) |
missense |
probably benign |
0.13 |
|
R1484:Gpr15
|
UTSW |
16 |
58,538,937 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1775:Gpr15
|
UTSW |
16 |
58,538,921 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1959:Gpr15
|
UTSW |
16 |
58,538,370 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1961:Gpr15
|
UTSW |
16 |
58,538,370 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2127:Gpr15
|
UTSW |
16 |
58,538,618 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R3825:Gpr15
|
UTSW |
16 |
58,538,723 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4957:Gpr15
|
UTSW |
16 |
58,538,537 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5098:Gpr15
|
UTSW |
16 |
58,538,890 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5180:Gpr15
|
UTSW |
16 |
58,538,248 (GRCm39) |
missense |
probably benign |
0.07 |
|
R5668:Gpr15
|
UTSW |
16 |
58,538,013 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6104:Gpr15
|
UTSW |
16 |
58,538,339 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6281:Gpr15
|
UTSW |
16 |
58,538,957 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6921:Gpr15
|
UTSW |
16 |
58,538,144 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6980:Gpr15
|
UTSW |
16 |
58,539,105 (GRCm39) |
start gained |
probably benign |
|
|
R6981:Gpr15
|
UTSW |
16 |
58,538,548 (GRCm39) |
missense |
probably benign |
0.44 |
|
R7252:Gpr15
|
UTSW |
16 |
58,538,760 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7643:Gpr15
|
UTSW |
16 |
58,538,179 (GRCm39) |
nonsense |
probably null |
|
|
R7680:Gpr15
|
UTSW |
16 |
58,538,328 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7844:Gpr15
|
UTSW |
16 |
58,538,873 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7954:Gpr15
|
UTSW |
16 |
58,539,047 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8100:Gpr15
|
UTSW |
16 |
58,538,076 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8372:Gpr15
|
UTSW |
16 |
58,538,850 (GRCm39) |
missense |
probably benign |
0.09 |
|
R9414:Gpr15
|
UTSW |
16 |
58,538,516 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9729:Gpr15
|
UTSW |
16 |
58,538,249 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
| Posted On |
2012-12-06 |
Incidental Mutation