Incidental Mutation 'IGL03349:Cxcr1'
ID419625
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 #IGL03349
Quality Score
Status
Chromosome1
Chromosomal Location74191785-74194631 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 74192528 bp
ZygosityHeterozygous
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]
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: 81,481,336 Y3648H probably benign Het
Akr1c20 T A 13: 4,508,250 R172* probably null Het
Apba1 A T 19: 23,917,575 E458D probably benign Het
Atg2a T A 19: 6,258,024 V1590D possibly damaging Het
Atp13a4 A G 16: 29,456,671 S332P probably benign Het
Atp8b2 A T 3: 89,957,817 F163I probably damaging Het
Azin2 A T 4: 128,946,114 Y228* probably null Het
Cd109 C T 9: 78,636,485 H104Y probably benign Het
Ces2a G T 8: 104,734,080 L3F probably damaging Het
Crebbp A G 16: 4,117,358 V889A possibly damaging Het
Crim1 A T 17: 78,355,150 K801* probably null Het
Cyp1a2 A G 9: 57,679,875 S378P possibly damaging Het
Cyp2c67 T C 19: 39,643,684 Y80C probably damaging Het
Dennd4a T C 9: 64,888,974 W761R probably damaging Het
Dgki C T 6: 37,097,627 probably null Het
Dnase1l3 T C 14: 7,984,146 T89A probably benign Het
Dock4 C A 12: 40,733,310 Q748K probably benign Het
Elmo3 A G 8: 105,306,388 E68G possibly damaging Het
Fer1l4 C A 2: 156,044,734 E692* probably null Het
Fkbp9 T A 6: 56,849,718 M101K probably damaging Het
Gm4763 T A 7: 24,722,836 S163C probably damaging Het
Grin1 C A 2: 25,310,436 V225L probably benign Het
Gucy2d T C 7: 98,449,841 V288A possibly damaging Het
Heatr5b C A 17: 78,755,320 K1933N probably benign Het
Hsdl1 A T 8: 119,565,697 S260T probably benign Het
Hspg2 T C 4: 137,560,522 probably benign Het
Ift172 A T 5: 31,284,130 V220E probably benign Het
Igkv12-47 C T 6: 69,750,866 noncoding transcript Het
Ism1 C T 2: 139,731,975 R82* probably null Het
Lrch3 A G 16: 32,955,324 T187A probably damaging Het
Ltbr T A 6: 125,312,366 D160V probably damaging Het
Mark3 A T 12: 111,628,250 K353I probably benign Het
Mrm3 A T 11: 76,249,946 H260L probably damaging Het
Nckap1 T C 2: 80,525,560 Q627R probably benign Het
Neb T A 2: 52,278,952 Y1857F possibly damaging Het
Ntsr1 A G 2: 180,500,502 T29A probably benign Het
Ofcc1 C T 13: 40,072,752 G768D probably benign Het
Olfr181 T C 16: 58,925,960 M204V probably benign Het
Pde8b T C 13: 95,043,043 probably benign Het
Pld4 A T 12: 112,767,879 Q393L probably benign Het
Prss23 T C 7: 89,509,857 I335V probably benign Het
Prune2 A G 19: 17,123,346 I2071M probably damaging Het
Ptprz1 T A 6: 23,000,332 V807E probably damaging Het
Rnf20 G A 4: 49,655,936 A961T probably damaging Het
Slc25a24 A G 3: 109,149,549 Q126R possibly damaging Het
Slc35e1 A T 8: 72,483,852 Y382N probably damaging Het
Snrpn C T 7: 59,985,865 G129D probably damaging Het
Spag9 A T 11: 94,093,509 N386I possibly damaging Het
Ssna1 T C 2: 25,271,530 N102D possibly damaging Het
Tcrg-C2 T A 13: 19,305,176 T129S probably benign Het
Tex21 A T 12: 76,221,591 I139N probably benign Het
Trim21 T C 7: 102,563,277 T161A probably benign Het
Vmn2r82 T A 10: 79,377,869 H96Q probably benign Het
Other mutations in Cxcr1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00955:Cxcr1 APN 1 74192220 missense probably benign 0.06
IGL01520:Cxcr1 APN 1 74192275 missense probably damaging 0.99
IGL01798:Cxcr1 APN 1 74192600 missense possibly damaging 0.94
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 On2016-08-02