Incidental Mutation 'IGL02128:Cxcr2'
ID 280955
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) question?
Stock # IGL02128
Quality Score
Status
Chromosome 1
Chromosomal Location 74193153-74200405 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 74198153 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 216 (T216A)
Ref Sequence ENSEMBL: ENSMUSP00000102512 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027372] [ENSMUST00000106899]
AlphaFold P35343
Predicted Effect probably benign
Transcript: ENSMUST00000027372
AA Change: T216A

PolyPhen 2 Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000027372
Gene: ENSMUSG00000026180
AA Change: T216A

DomainStartEndE-ValueType
Pfam:7tm_1 64 313 1.2e-53 PFAM
low complexity region 346 358 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000106899
AA Change: T216A

PolyPhen 2 Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000102512
Gene: ENSMUSG00000026180
AA Change: T216A

DomainStartEndE-ValueType
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: 19 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atad1 A T 19: 32,664,727 (GRCm39) probably benign Het
Bard1 T C 1: 71,114,387 (GRCm39) K198R possibly damaging Het
Brca1 A G 11: 101,421,808 (GRCm39) probably benign Het
Col6a5 T C 9: 105,817,093 (GRCm39) E406G unknown Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Dnah7a C T 1: 53,476,672 (GRCm39) S3424N probably damaging Het
Golgb1 T G 16: 36,736,666 (GRCm39) L1971R probably damaging Het
Hspg2 T G 4: 137,291,327 (GRCm39) C3892W probably damaging Het
Jmjd1c T C 10: 67,079,648 (GRCm39) L2214P probably damaging Het
Klkb1 A T 8: 45,740,068 (GRCm39) F75I probably damaging Het
Loxl3 T A 6: 83,027,564 (GRCm39) V702E probably damaging Het
Pcdh18 T A 3: 49,711,135 (GRCm39) N60I possibly damaging Het
Pex5 A T 6: 124,375,419 (GRCm39) N534K probably damaging Het
Ppp1r16a T A 15: 76,578,178 (GRCm39) L383Q probably benign Het
Rp1 A G 1: 4,417,608 (GRCm39) V1168A probably damaging Het
Scpppq1 A G 5: 104,222,569 (GRCm39) probably null Het
Slc2a2 A G 3: 28,773,550 (GRCm39) E285G probably damaging Het
Stab1 T A 14: 30,872,398 (GRCm39) N1171I probably damaging Het
Vcl A G 14: 21,070,645 (GRCm39) I744V probably benign Het
Other mutations in Cxcr2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03384:Cxcr2 APN 1 74,197,950 (GRCm39) missense probably damaging 0.98
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 2015-04-16