Incidental Mutation 'IGL00955:Cxcr1'
| ID |
26702 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cxcr1
|
| Ensembl Gene |
ENSMUSG00000048480 |
| Gene Name |
C-X-C motif chemokine receptor 1 |
| Synonyms |
Il8ra |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00955
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
74230944-74233790 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 74231379 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 214
(F214L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139555
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053389]
[ENSMUST00000190313]
|
| AlphaFold |
Q810W6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000053389
AA Change: F214L
PolyPhen 2
Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000049714
Gene: ENSMUSG00000048480
AA Change: F214L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
61 |
310 |
3e-50 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000190313
AA Change: F214L
PolyPhen 2
Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000139555
Gene: ENSMUSG00000048480
AA Change: F214L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
61 |
310 |
1.1e-55 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the G-protein-coupled receptor family. This protein is a receptor for interleukin 8 (IL8). It binds to IL8 with high affinity, and transduces the signal through a G-protein activated second messenger system. Knockout studies in mice suggested that this protein inhibits embryonic oligodendrocyte precursor migration in developing spinal cord. This gene, IL8RB, a gene encoding another high affinity IL8 receptor, as well as IL8RBP, a pseudogene of IL8RB, form a gene cluster in a region mapped to chromosome 2q33-q36. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a gene disruption display normal morphology, clinical chemistry, hematology, and behavior. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arl11 |
A |
T |
14: 61,548,691 (GRCm39) |
Q167L |
probably benign |
Het |
| Ces3a |
T |
A |
8: 105,777,202 (GRCm39) |
V175E |
probably damaging |
Het |
| Cherp |
C |
T |
8: 73,224,038 (GRCm39) |
E140K |
probably damaging |
Het |
| Clpx |
A |
T |
9: 65,231,552 (GRCm39) |
T546S |
probably damaging |
Het |
| Csgalnact2 |
A |
G |
6: 118,106,225 (GRCm39) |
L31P |
probably damaging |
Het |
| Cyp2c67 |
T |
A |
19: 39,631,829 (GRCm39) |
T123S |
possibly damaging |
Het |
| Dbt |
G |
A |
3: 116,339,763 (GRCm39) |
G384S |
probably benign |
Het |
| Dzank1 |
G |
A |
2: 144,332,094 (GRCm39) |
T414I |
probably benign |
Het |
| Erich3 |
A |
G |
3: 154,454,156 (GRCm39) |
I641V |
probably benign |
Het |
| Gtf2e1 |
A |
T |
16: 37,356,282 (GRCm39) |
D83E |
possibly damaging |
Het |
| Hars2 |
T |
C |
18: 36,922,410 (GRCm39) |
|
probably benign |
Het |
| Hnrnpm |
C |
A |
17: 33,868,876 (GRCm39) |
R517L |
probably damaging |
Het |
| Kcnh2 |
T |
C |
5: 24,529,964 (GRCm39) |
D372G |
probably damaging |
Het |
| Kcnk2 |
A |
T |
1: 188,975,211 (GRCm39) |
I264N |
probably damaging |
Het |
| Kctd4 |
A |
G |
14: 76,200,668 (GRCm39) |
D213G |
probably damaging |
Het |
| Lhx9 |
T |
C |
1: 138,756,418 (GRCm39) |
T323A |
possibly damaging |
Het |
| Lilra6 |
C |
A |
7: 3,914,403 (GRCm39) |
|
probably benign |
Het |
| Meig1 |
T |
C |
2: 3,410,311 (GRCm39) |
D63G |
probably damaging |
Het |
| Mov10l1 |
A |
G |
15: 88,879,192 (GRCm39) |
Y184C |
probably damaging |
Het |
| Mrpl24 |
T |
A |
3: 87,829,526 (GRCm39) |
L91* |
probably null |
Het |
| Mup11 |
C |
T |
4: 60,615,549 (GRCm39) |
R175H |
probably benign |
Het |
| Nbea |
T |
C |
3: 55,912,893 (GRCm39) |
K965E |
possibly damaging |
Het |
| Or52ab7 |
C |
A |
7: 102,978,528 (GRCm39) |
H278Q |
probably damaging |
Het |
| Papss1 |
G |
A |
3: 131,305,710 (GRCm39) |
E252K |
probably benign |
Het |
| Robo2 |
A |
T |
16: 73,812,860 (GRCm39) |
L278Q |
probably damaging |
Het |
| Sned1 |
A |
T |
1: 93,202,125 (GRCm39) |
I638F |
probably damaging |
Het |
| Spin1 |
T |
C |
13: 51,298,577 (GRCm39) |
|
probably null |
Het |
| Taar9 |
T |
C |
10: 23,985,429 (GRCm39) |
T2A |
probably benign |
Het |
| Tbc1d8b |
T |
C |
X: 138,626,629 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Cxcr1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01520:Cxcr1
|
APN |
1 |
74,231,434 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01798:Cxcr1
|
APN |
1 |
74,231,759 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL03349:Cxcr1
|
APN |
1 |
74,231,687 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R0491:Cxcr1
|
UTSW |
1 |
74,231,468 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R0637:Cxcr1
|
UTSW |
1 |
74,231,998 (GRCm39) |
missense |
probably benign |
|
|
R1372:Cxcr1
|
UTSW |
1 |
74,231,161 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1511:Cxcr1
|
UTSW |
1 |
74,231,929 (GRCm39) |
missense |
probably benign |
|
|
R4603:Cxcr1
|
UTSW |
1 |
74,231,896 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5642:Cxcr1
|
UTSW |
1 |
74,230,987 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6046:Cxcr1
|
UTSW |
1 |
74,231,440 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7552:Cxcr1
|
UTSW |
1 |
74,231,773 (GRCm39) |
missense |
probably benign |
0.18 |
|
R7664:Cxcr1
|
UTSW |
1 |
74,231,834 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9135:Cxcr1
|
UTSW |
1 |
74,231,099 (GRCm39) |
missense |
probably benign |
|
|
R9432:Cxcr1
|
UTSW |
1 |
74,231,231 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9673:Cxcr1
|
UTSW |
1 |
74,231,074 (GRCm39) |
missense |
probably benign |
|
|
Z1176:Cxcr1
|
UTSW |
1 |
74,231,551 (GRCm39) |
nonsense |
probably null |
|
|
| Posted On |
2013-04-17 |
Incidental Mutation