Incidental Mutation 'IGL03349:Cxcr1'
ID 419625
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) question?
Stock # IGL03349
Quality Score
Status
Chromosome 1
Chromosomal Location 74230944-74233790 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 74231687 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 112 (T112A)
Ref Sequence ENSEMBL: ENSMUSP00000139555 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053389] [ENSMUST00000190313]
AlphaFold Q810W6
Predicted Effect possibly damaging
Transcript: ENSMUST00000053389
AA Change: T112A

PolyPhen 2 Score 0.834 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000049714
Gene: ENSMUSG00000048480
AA Change: T112A

DomainStartEndE-ValueType
Pfam:7tm_1 61 310 3e-50 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000190313
AA Change: T112A

PolyPhen 2 Score 0.834 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000139555
Gene: ENSMUSG00000048480
AA Change: T112A

DomainStartEndE-ValueType
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 A G 13: 81,629,455 (GRCm39) Y3648H probably benign Het
Akr1c20 T A 13: 4,558,249 (GRCm39) R172* probably null Het
Apba1 A T 19: 23,894,939 (GRCm39) E458D probably benign Het
Atg2a T A 19: 6,308,054 (GRCm39) V1590D possibly damaging Het
Atp13a4 A G 16: 29,275,489 (GRCm39) S332P probably benign Het
Atp8b2 A T 3: 89,865,124 (GRCm39) F163I probably damaging Het
Azin2 A T 4: 128,839,907 (GRCm39) Y228* probably null Het
Cd109 C T 9: 78,543,767 (GRCm39) H104Y probably benign Het
Ces2a G T 8: 105,460,712 (GRCm39) L3F probably damaging Het
Crebbp A G 16: 3,935,222 (GRCm39) V889A possibly damaging Het
Crim1 A T 17: 78,662,579 (GRCm39) K801* probably null Het
Cyp1a2 A G 9: 57,587,158 (GRCm39) S378P possibly damaging Het
Cyp2c67 T C 19: 39,632,128 (GRCm39) Y80C probably damaging Het
Dennd4a T C 9: 64,796,256 (GRCm39) W761R probably damaging Het
Dgki C T 6: 37,074,562 (GRCm39) probably null Het
Dnase1l3 T C 14: 7,984,146 (GRCm38) T89A probably benign Het
Dock4 C A 12: 40,783,309 (GRCm39) Q748K probably benign Het
Elmo3 A G 8: 106,033,020 (GRCm39) E68G possibly damaging Het
Fer1l4 C A 2: 155,886,654 (GRCm39) E692* probably null Het
Fkbp9 T A 6: 56,826,703 (GRCm39) M101K probably damaging Het
Grin1 C A 2: 25,200,448 (GRCm39) V225L probably benign Het
Gucy2d T C 7: 98,099,048 (GRCm39) V288A possibly damaging Het
Heatr5b C A 17: 79,062,749 (GRCm39) K1933N probably benign Het
Hsdl1 A T 8: 120,292,436 (GRCm39) S260T probably benign Het
Hspg2 T C 4: 137,287,833 (GRCm39) probably benign Het
Ift172 A T 5: 31,441,474 (GRCm39) V220E probably benign Het
Igkv12-47 C T 6: 69,727,850 (GRCm39) noncoding transcript Het
Ism1 C T 2: 139,573,895 (GRCm39) R82* probably null Het
Lrch3 A G 16: 32,775,694 (GRCm39) T187A probably damaging Het
Ltbr T A 6: 125,289,329 (GRCm39) D160V probably damaging Het
Lypd11 T A 7: 24,422,261 (GRCm39) S163C probably damaging Het
Mark3 A T 12: 111,594,684 (GRCm39) K353I probably benign Het
Mrm3 A T 11: 76,140,772 (GRCm39) H260L probably damaging Het
Nckap1 T C 2: 80,355,904 (GRCm39) Q627R probably benign Het
Neb T A 2: 52,168,964 (GRCm39) Y1857F possibly damaging Het
Ntsr1 A G 2: 180,142,295 (GRCm39) T29A probably benign Het
Ofcc1 C T 13: 40,226,228 (GRCm39) G768D probably benign Het
Or5k17 T C 16: 58,746,323 (GRCm39) M204V probably benign Het
Pde8b T C 13: 95,179,551 (GRCm39) probably benign Het
Pld4 A T 12: 112,734,313 (GRCm39) Q393L probably benign Het
Prss23 T C 7: 89,159,065 (GRCm39) I335V probably benign Het
Prune2 A G 19: 17,100,710 (GRCm39) I2071M probably damaging Het
Ptprz1 T A 6: 23,000,331 (GRCm39) V807E probably damaging Het
Rnf20 G A 4: 49,655,936 (GRCm39) A961T probably damaging Het
Slc25a24 A G 3: 109,056,865 (GRCm39) Q126R possibly damaging Het
Slc35e1 A T 8: 73,237,696 (GRCm39) Y382N probably damaging Het
Snrpn C T 7: 59,635,613 (GRCm39) G129D probably damaging Het
Spag9 A T 11: 93,984,335 (GRCm39) N386I possibly damaging Het
Ssna1 T C 2: 25,161,542 (GRCm39) N102D possibly damaging Het
Tex21 A T 12: 76,268,365 (GRCm39) I139N probably benign Het
Trgc2 T A 13: 19,489,346 (GRCm39) T129S probably benign Het
Trim21 T C 7: 102,212,484 (GRCm39) T161A probably benign Het
Vmn2r82 T A 10: 79,213,703 (GRCm39) H96Q probably benign Het
Other mutations in Cxcr1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00955:Cxcr1 APN 1 74,231,379 (GRCm39) missense probably benign 0.06
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
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 2016-08-02