Incidental Mutation 'IGL00955:Cxcr1'
ID 26702
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cxcr1
Ensembl Gene ENSMUSG00000048480
Gene Name chemokine (C-X-C motif) receptor 1
Synonyms Il8ra
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00955
Quality Score
Status
Chromosome 1
Chromosomal Location 74191785-74194631 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 74192220 bp (GRCm38)
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

DomainStartEndE-ValueType
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

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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arl11 A T 14: 61,311,242 Q167L probably benign Het
Ces3a T A 8: 105,050,570 V175E probably damaging Het
Cherp C T 8: 72,470,194 E140K probably damaging Het
Clpx A T 9: 65,324,270 T546S probably damaging Het
Csgalnact2 A G 6: 118,129,264 L31P probably damaging Het
Cyp2c67 T A 19: 39,643,385 T123S possibly damaging Het
Dbt G A 3: 116,546,114 G384S probably benign Het
Dzank1 G A 2: 144,490,174 T414I probably benign Het
Erich3 A G 3: 154,748,519 I641V probably benign Het
Gtf2e1 A T 16: 37,535,920 D83E possibly damaging Het
Hars2 T C 18: 36,789,357 probably benign Het
Hnrnpm C A 17: 33,649,902 R517L probably damaging Het
Kcnh2 T C 5: 24,324,966 D372G probably damaging Het
Kcnk2 A T 1: 189,243,014 I264N probably damaging Het
Kctd4 A G 14: 75,963,228 D213G probably damaging Het
Lhx9 T C 1: 138,828,680 T323A possibly damaging Het
Lilra6 C A 7: 3,911,404 probably benign Het
Meig1 T C 2: 3,409,274 D63G probably damaging Het
Mov10l1 A G 15: 88,994,989 Y184C probably damaging Het
Mrpl24 T A 3: 87,922,219 L91* probably null Het
Mup11 C T 4: 60,659,550 R175H probably benign Het
Nbea T C 3: 56,005,472 K965E possibly damaging Het
Olfr598 C A 7: 103,329,321 H278Q probably damaging Het
Papss1 G A 3: 131,599,949 E252K probably benign Het
Robo2 A T 16: 74,015,972 L278Q probably damaging Het
Sned1 A T 1: 93,274,403 I638F probably damaging Het
Spin1 T C 13: 51,144,541 probably null Het
Taar9 T C 10: 24,109,531 T2A probably benign Het
Tbc1d8b T C X: 139,725,880 probably null Het
Other mutations in Cxcr1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01520:Cxcr1 APN 1 74192275 missense probably damaging 0.99
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
R9135:Cxcr1 UTSW 1 74191940 missense probably benign
R9432:Cxcr1 UTSW 1 74192072 missense probably damaging 1.00
Z1176:Cxcr1 UTSW 1 74192392 nonsense probably null
Posted On 2013-04-17