Incidental Mutation 'IGL01520:Cxcr1'
ID90477
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cxcr1
Ensembl Gene ENSMUSG00000048480
Gene Namechemokine (C-X-C motif) receptor 1
SynonymsIl8ra
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01520
Quality Score
Status
Chromosome1
Chromosomal Location74191785-74194631 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 74192275 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Glutamine at position 196 (L196Q)
Ref Sequence ENSEMBL: ENSMUSP00000139555 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053389] [ENSMUST00000190313]
Predicted Effect probably damaging
Transcript: ENSMUST00000053389
AA Change: L196Q

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000049714
Gene: ENSMUSG00000048480
AA Change: L196Q

DomainStartEndE-ValueType
Pfam:7tm_1 61 310 3e-50 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000190313
AA Change: L196Q

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000139555
Gene: ENSMUSG00000048480
AA Change: L196Q

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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410089E03Rik C A 15: 8,221,911 T1889K probably damaging Het
4430402I18Rik A T 19: 28,896,132 probably null Het
4932438A13Rik T A 3: 36,973,260 Y2265* probably null Het
Acan T A 7: 79,084,570 H58Q probably damaging Het
Atp6v1c2 A T 12: 17,297,753 L149Q probably damaging Het
Cd40lg A G X: 57,219,788 N132D probably benign Het
Cemip G T 7: 83,948,622 T1060K probably benign Het
Ces1a G T 8: 93,045,098 P24T probably damaging Het
Ces5a A T 8: 93,519,578 S328T probably benign Het
Cfap70 A G 14: 20,420,687 C497R probably benign Het
Cndp2 T C 18: 84,668,607 K430R probably benign Het
Crlf3 T C 11: 80,060,146 D126G probably benign Het
E330013P04Rik A G 19: 60,161,897 noncoding transcript Het
Erbb2 C T 11: 98,434,009 H810Y probably benign Het
Fam57a T C 11: 76,207,225 probably null Het
Fmn1 C A 2: 113,444,368 probably benign Het
Fpr3 A G 17: 17,971,063 T199A possibly damaging Het
Gcsh A G 8: 116,983,949 probably benign Het
Gm10073 T A 8: 106,573,269 I28F probably benign Het
Gucy1a2 C A 9: 3,759,561 Q456K probably damaging Het
Hgs C A 11: 120,478,348 P317T probably damaging Het
Inmt C A 6: 55,171,228 V139F probably damaging Het
Kcnma1 C A 14: 23,501,143 M460I possibly damaging Het
Map9 A T 3: 82,378,965 N359I probably damaging Het
Mavs T C 2: 131,245,343 S254P probably benign Het
Mcts1 T A X: 38,611,759 probably benign Het
Mecp2 C A X: 74,035,841 R344L possibly damaging Het
Olfr1006 T C 2: 85,674,357 T265A probably benign Het
Olfr1427 A G 19: 12,099,636 M1T probably null Het
Olfr1469 G T 19: 13,410,750 M60I probably damaging Het
Olfr392 T G 11: 73,814,786 T99P probably damaging Het
Olfr957 T C 9: 39,511,046 I225V possibly damaging Het
Olfr969 T G 9: 39,795,378 M1R probably null Het
Rasgrp1 T C 2: 117,288,663 I498V probably damaging Het
Rbbp6 T A 7: 122,985,675 S185T possibly damaging Het
Rd3 A T 1: 191,985,322 H251L possibly damaging Het
Rnf180 T A 13: 105,250,356 D148V probably damaging Het
Rnf43 C A 11: 87,664,716 A34E probably damaging Het
Rslcan18 A G 13: 67,102,108 V21A probably benign Het
Sept9 T C 11: 117,352,643 V128A probably damaging Het
Slc36a1 A G 11: 55,219,656 H103R probably benign Het
Ssh2 A G 11: 77,449,906 D628G probably damaging Het
Tmem119 A G 5: 113,795,485 F85S probably damaging Het
Tpp1 A T 7: 105,747,729 I398N probably benign Het
Ttc3 T C 16: 94,390,207 Y203H probably benign Het
Vars G T 17: 35,013,873 V898L probably benign Het
Vmn1r85 A C 7: 13,085,154 V21G probably damaging Het
Zfp521 T C 18: 13,938,988 H65R possibly damaging Het
Other mutations in Cxcr1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00955:Cxcr1 APN 1 74192220 missense probably benign 0.06
IGL01798:Cxcr1 APN 1 74192600 missense possibly damaging 0.94
IGL03349:Cxcr1 APN 1 74192528 missense possibly damaging 0.83
R0491:Cxcr1 UTSW 1 74192309 missense possibly damaging 0.50
R0637:Cxcr1 UTSW 1 74192839 missense probably benign
R1372:Cxcr1 UTSW 1 74192002 missense probably benign 0.05
R1511:Cxcr1 UTSW 1 74192770 missense probably benign
R4603:Cxcr1 UTSW 1 74192737 missense probably benign 0.00
R5642:Cxcr1 UTSW 1 74191828 missense probably damaging 0.98
R6046:Cxcr1 UTSW 1 74192281 missense probably damaging 1.00
R7552:Cxcr1 UTSW 1 74192614 missense probably benign 0.18
R7664:Cxcr1 UTSW 1 74192675 missense probably damaging 1.00
Z1176:Cxcr1 UTSW 1 74192392 nonsense probably null
Posted On2013-12-09