Incidental Mutation 'R1372:Cxcr1'
ID 157348
Institutional Source Beutler Lab
Gene Symbol Cxcr1
Ensembl Gene ENSMUSG00000048480
Gene Name C-X-C motif chemokine receptor 1
Synonyms Il8ra
MMRRC Submission 039436-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1372 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 74230944-74233790 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 74231161 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 287 (D287G)
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: D287G

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000049714
Gene: ENSMUSG00000048480
AA Change: D287G

DomainStartEndE-ValueType
Pfam:7tm_1 61 310 3e-50 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000190313
AA Change: D287G

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000139555
Gene: ENSMUSG00000048480
AA Change: D287G

DomainStartEndE-ValueType
Pfam:7tm_1 61 310 1.1e-55 PFAM
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.4%
  • 20x: 93.7%
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700030J22Rik T A 8: 117,698,696 (GRCm39) Q137L possibly damaging Het
Abca12 A G 1: 71,334,016 (GRCm39) I1162T probably damaging Het
Adcy2 T A 13: 68,816,652 (GRCm39) N778I probably damaging Het
Adgre5 G A 8: 84,454,949 (GRCm39) P248S probably damaging Het
Akap13 G A 7: 75,259,340 (GRCm39) G655S possibly damaging Het
Ankrd28 A T 14: 31,467,218 (GRCm39) M248K probably benign Het
Asxl3 T G 18: 22,543,066 (GRCm39) S20A probably benign Het
Atf7ip2 G A 16: 10,052,195 (GRCm39) V225I probably damaging Het
Car10 A T 11: 93,469,525 (GRCm39) T167S probably benign Het
Cbx7 C T 15: 79,803,074 (GRCm39) G160R probably damaging Het
Cd209d C A 8: 3,928,515 (GRCm39) probably benign Het
Cdca4 G A 12: 112,785,537 (GRCm39) Q64* probably null Het
Cela2a C T 4: 141,546,405 (GRCm39) G178D probably damaging Het
Cntnap5b G A 1: 100,091,813 (GRCm39) D499N probably benign Het
Cox7a2 G A 9: 79,665,819 (GRCm39) R21* probably null Het
Crmp1 G A 5: 37,446,155 (GRCm39) G604R probably benign Het
Cul9 C G 17: 46,833,101 (GRCm39) A1326P probably damaging Het
Cyp4a12b T C 4: 115,290,146 (GRCm39) I233T probably benign Het
Dlg1 T C 16: 31,631,638 (GRCm39) I208T probably damaging Het
Dsg4 C A 18: 20,582,733 (GRCm39) probably null Het
Epha3 A G 16: 63,431,416 (GRCm39) I495T possibly damaging Het
Hmcn1 A T 1: 150,556,466 (GRCm39) M2440K probably benign Het
Klb G C 5: 65,506,089 (GRCm39) R112P possibly damaging Het
Leo1 T C 9: 75,356,751 (GRCm39) V377A possibly damaging Het
Lsg1 A G 16: 30,383,472 (GRCm39) F583L possibly damaging Het
Mphosph9 A T 5: 124,421,808 (GRCm39) probably null Het
Mpp3 A G 11: 101,891,401 (GRCm39) V579A probably damaging Het
Oca2 T A 7: 56,185,716 (GRCm39) M814K probably benign Het
Odad3 C T 9: 21,904,916 (GRCm39) R290H probably damaging Het
Pdgfra A G 5: 75,349,924 (GRCm39) E936G probably damaging Het
Pkd1 T C 17: 24,794,240 (GRCm39) C1976R probably damaging Het
Plekhg5 G A 4: 152,189,188 (GRCm39) R243H probably damaging Het
Pogz T A 3: 94,768,199 (GRCm39) L126M probably damaging Het
Rbm15 G T 3: 107,239,946 (GRCm39) R151S possibly damaging Het
Rec8 T C 14: 55,856,431 (GRCm39) Y68H probably damaging Het
Rhcg A T 7: 79,249,122 (GRCm39) D366E probably benign Het
Ryr3 T A 2: 112,664,546 (GRCm39) S1582C probably damaging Het
Sh3pxd2a A T 19: 47,256,160 (GRCm39) W853R probably damaging Het
Spopfm1 A G 3: 94,173,435 (GRCm39) T148A possibly damaging Het
Tnxb T C 17: 34,929,267 (GRCm39) V2770A possibly damaging Het
Vmn2r63 A G 7: 42,578,642 (GRCm39) F84L possibly damaging 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
IGL03349:Cxcr1 APN 1 74,231,687 (GRCm39) missense possibly damaging 0.83
R0491:Cxcr1 UTSW 1 74,231,468 (GRCm39) missense possibly damaging 0.50
R0637:Cxcr1 UTSW 1 74,231,998 (GRCm39) missense probably benign
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
Predicted Primers PCR Primer
(F):5'- TGTGTCAAAACCTCCTTGCGAACC -3'
(R):5'- GGCTGTCTCCAAATTGAAGGGCTG -3'

Sequencing Primer
(F):5'- TTGGCCAACGAAGGCATAGA -3'
(R):5'- GCCACAACAGATTTTCGGATG -3'
Posted On 2014-02-18