Incidental Mutation 'IGL03384:Cxcr2'
| ID |
420807 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cxcr2
|
| Ensembl Gene |
ENSMUSG00000026180 |
| Gene Name |
C-X-C motif chemokine receptor 2 |
| Synonyms |
CD128, IL-8Rh, Gpcr16, IL-8rb, Il8rb, IL8RA, Cmkar2 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL03384
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
74193153-74200405 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 74197950 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 148
(V148A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102512
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027372]
[ENSMUST00000106899]
|
| AlphaFold |
P35343 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000027372
AA Change: V148A
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000027372
Gene: ENSMUSG00000026180
AA Change: V148A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
64 |
313 |
1.2e-53 |
PFAM |
|
low complexity region
|
346 |
358 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000106899
AA Change: V148A
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000102512
Gene: ENSMUSG00000026180
AA Change: V148A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
64 |
313 |
1.1e-58 |
PFAM |
|
low complexity region
|
346 |
358 |
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.] 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. This receptor also binds to chemokine (C-X-C motif) ligand 1 (CXCL1/MGSA), a protein with melanoma growth stimulating activity, and has been shown to be a major component required for serum-dependent melanoma cell growth. This receptor mediates neutrophil migration to sites of inflammation. The angiogenic effects of IL8 in intestinal microvascular endothelial cells are found to be mediated by this receptor. Knockout studies in mice suggested that this receptor controls the positioning of oligodendrocyte precursors in developing spinal cord by arresting their migration. This gene, IL8RA, 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. Alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Nov 2009]
PHENOTYPE: Mice homozygous for a targeted null mutation are viable and fertile but exhibit splenomegaly, lymphadenopathy, and increased susceptibility to various pathogens due to impaired neutrophil recruitment and decreased pathogen clearance during innate immune responses. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933427D14Rik |
A |
G |
11: 72,086,673 (GRCm39) |
I246T |
possibly damaging |
Het |
| Ablim2 |
C |
T |
5: 36,032,216 (GRCm39) |
R614C |
probably damaging |
Het |
| B4galt7 |
T |
C |
13: 55,757,102 (GRCm39) |
L265P |
probably damaging |
Het |
| Col4a4 |
C |
T |
1: 82,462,159 (GRCm39) |
C1072Y |
probably benign |
Het |
| Dnah14 |
G |
A |
1: 181,573,514 (GRCm39) |
V2942M |
probably benign |
Het |
| Fam124b |
T |
A |
1: 80,177,673 (GRCm39) |
H442L |
probably benign |
Het |
| Haus6 |
T |
C |
4: 86,501,762 (GRCm39) |
H703R |
probably benign |
Het |
| Ice1 |
T |
C |
13: 70,751,368 (GRCm39) |
T1573A |
probably benign |
Het |
| Iftap |
G |
T |
2: 101,415,608 (GRCm39) |
T115N |
probably benign |
Het |
| Ighv1-31 |
A |
G |
12: 114,793,093 (GRCm39) |
F48L |
probably benign |
Het |
| Iws1 |
C |
A |
18: 32,226,203 (GRCm39) |
A697D |
probably damaging |
Het |
| Jhy |
T |
A |
9: 40,872,228 (GRCm39) |
N94Y |
probably benign |
Het |
| Kank2 |
C |
T |
9: 21,685,874 (GRCm39) |
V667M |
possibly damaging |
Het |
| Mcam |
G |
A |
9: 44,051,809 (GRCm39) |
|
probably benign |
Het |
| Muc5ac |
A |
T |
7: 141,366,140 (GRCm39) |
I2099F |
possibly damaging |
Het |
| Myo7a |
T |
C |
7: 97,742,800 (GRCm39) |
I410V |
probably damaging |
Het |
| Nub1 |
A |
T |
5: 24,902,425 (GRCm39) |
|
probably benign |
Het |
| Nub1 |
A |
T |
5: 24,902,424 (GRCm39) |
|
probably null |
Het |
| Or10g9b |
T |
C |
9: 39,917,766 (GRCm39) |
T160A |
probably benign |
Het |
| Panx2 |
C |
T |
15: 88,952,322 (GRCm39) |
A271V |
possibly damaging |
Het |
| Papss1 |
T |
A |
3: 131,285,113 (GRCm39) |
H13Q |
probably damaging |
Het |
| Pkd1 |
A |
G |
17: 24,784,871 (GRCm39) |
T438A |
probably benign |
Het |
| Ppdpf |
T |
C |
2: 180,829,673 (GRCm39) |
S43P |
probably benign |
Het |
| Ptchd4 |
T |
A |
17: 42,813,481 (GRCm39) |
C461S |
probably damaging |
Het |
| Rapgef2 |
A |
G |
3: 78,990,853 (GRCm39) |
F985S |
probably damaging |
Het |
| Rbm25 |
T |
C |
12: 83,706,297 (GRCm39) |
I214T |
probably benign |
Het |
| Sgpp1 |
T |
C |
12: 75,762,880 (GRCm39) |
|
probably benign |
Het |
| Slc22a20 |
A |
T |
19: 6,030,402 (GRCm39) |
C343* |
probably null |
Het |
| Slc22a22 |
T |
C |
15: 57,117,612 (GRCm39) |
I310V |
probably benign |
Het |
| Slc6a13 |
T |
C |
6: 121,309,350 (GRCm39) |
F287S |
probably damaging |
Het |
| Usp30 |
A |
G |
5: 114,259,635 (GRCm39) |
D447G |
probably damaging |
Het |
| Vmn1r78 |
A |
T |
7: 11,887,136 (GRCm39) |
Y249F |
possibly damaging |
Het |
| Vmn2r106 |
T |
C |
17: 20,488,405 (GRCm39) |
T665A |
probably damaging |
Het |
| Vps37b |
A |
G |
5: 124,145,670 (GRCm39) |
|
probably null |
Het |
| Wfdc1 |
T |
A |
8: 120,413,016 (GRCm39) |
N198K |
probably benign |
Het |
|
| Other mutations in Cxcr2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02128:Cxcr2
|
APN |
1 |
74,198,153 (GRCm39) |
missense |
probably benign |
0.07 |
|
copperas
|
UTSW |
1 |
74,197,619 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0780:Cxcr2
|
UTSW |
1 |
74,198,334 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1178:Cxcr2
|
UTSW |
1 |
74,197,527 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1180:Cxcr2
|
UTSW |
1 |
74,197,527 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1448:Cxcr2
|
UTSW |
1 |
74,197,527 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1535:Cxcr2
|
UTSW |
1 |
74,198,217 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1851:Cxcr2
|
UTSW |
1 |
74,198,438 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1852:Cxcr2
|
UTSW |
1 |
74,198,438 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2897:Cxcr2
|
UTSW |
1 |
74,198,130 (GRCm39) |
missense |
probably benign |
0.04 |
|
R2898:Cxcr2
|
UTSW |
1 |
74,198,130 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4430:Cxcr2
|
UTSW |
1 |
74,198,004 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4542:Cxcr2
|
UTSW |
1 |
74,197,688 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5625:Cxcr2
|
UTSW |
1 |
74,197,991 (GRCm39) |
nonsense |
probably null |
|
|
R5996:Cxcr2
|
UTSW |
1 |
74,197,619 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6737:Cxcr2
|
UTSW |
1 |
74,197,790 (GRCm39) |
missense |
probably benign |
|
|
R7206:Cxcr2
|
UTSW |
1 |
74,198,213 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R7577:Cxcr2
|
UTSW |
1 |
74,198,074 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7717:Cxcr2
|
UTSW |
1 |
74,197,998 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7873:Cxcr2
|
UTSW |
1 |
74,198,166 (GRCm39) |
missense |
probably benign |
0.14 |
|
R8300:Cxcr2
|
UTSW |
1 |
74,198,333 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9224:Cxcr2
|
UTSW |
1 |
74,197,756 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation