Incidental Mutation 'IGL01343:Cxcr4'
ID74937
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cxcr4
Ensembl Gene ENSMUSG00000045382
Gene Namechemokine (C-X-C motif) receptor 4
Synonymsfusin, Cmkar4, CD184, Sdf1r, b2b220Clo, PB-CKR
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.554) question?
Stock #IGL01343
Quality Score
Status
Chromosome1
Chromosomal Location128588199-128592293 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 128589555 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Cysteine at position 121 (Y121C)
Ref Sequence ENSEMBL: ENSMUSP00000120153 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052172] [ENSMUST00000142893]
Predicted Effect probably damaging
Transcript: ENSMUST00000052172
AA Change: Y123C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000053489
Gene: ENSMUSG00000045382
AA Change: Y123C

DomainStartEndE-ValueType
Pfam:CXCR4_N 8 40 2.1e-18 PFAM
Pfam:7TM_GPCR_Srsx 51 323 2.5e-7 PFAM
Pfam:7tm_1 57 309 2.4e-52 PFAM
low complexity region 344 359 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000142893
AA Change: Y121C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000120153
Gene: ENSMUSG00000045382
AA Change: Y121C

DomainStartEndE-ValueType
Pfam:CXCR4_N 6 38 1.5e-24 PFAM
Pfam:7TM_GPCR_Srsx 49 270 2.4e-8 PFAM
Pfam:7tm_1 55 272 1.9e-51 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a CXC chemokine receptor specific for stromal cell-derived factor-1. The protein has 7 transmembrane regions and is located on the cell surface. It acts with the CD4 protein to support HIV entry into cells and is also highly expressed in breast cancer cells. Mutations in this gene have been associated with WHIM (warts, hypogammaglobulinemia, infections, and myelokathexis) syndrome. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous targeted null mutants exhibit altered viability, lungs, kidneys, immune system, hematopoiesis, myelopoiesis, cerebellar foliation, neuronal cell layer development, susceptibility to diet-induced obesity and adaptive thermogenesis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9530053A07Rik A G 7: 28,150,702 Q1191R probably benign Het
Abcd2 A T 15: 91,149,213 probably benign Het
Adgrf1 T A 17: 43,313,195 F835L probably null Het
Akp3 G T 1: 87,127,136 probably benign Het
BC106179 G T 16: 23,224,287 probably benign Het
Bysl C A 17: 47,601,889 M325I probably benign Het
C330027C09Rik A G 16: 49,013,188 I551V probably damaging Het
Crnn A G 3: 93,148,326 R140G probably benign Het
Cts8 T C 13: 61,249,196 probably benign Het
Ddr2 T C 1: 169,984,581 T691A probably benign Het
Dhx30 A T 9: 110,086,245 F782I probably benign Het
Efcab5 C T 11: 77,129,930 G655D probably damaging Het
Eif2ak4 G A 2: 118,422,089 V381I probably benign Het
Enpp3 A T 10: 24,805,922 Y295* probably null Het
Fbxo28 T C 1: 182,317,012 E329G probably damaging Het
Fmnl2 T A 2: 53,123,545 V972D probably damaging Het
Fmr1 A G X: 68,688,295 D22G probably damaging Het
Fsip2 A G 2: 82,999,819 T6886A possibly damaging Het
Gadl1 A G 9: 116,074,112 *503W probably null Het
Gpc6 A T 14: 117,186,812 K104I possibly damaging Het
Hecw2 T A 1: 53,826,976 T1509S probably damaging Het
Lonp1 A G 17: 56,615,586 L680P possibly damaging Het
Lrrc66 A T 5: 73,608,463 N412K probably damaging Het
Marco C T 1: 120,494,740 probably null Het
Mdga2 T C 12: 66,723,109 T206A probably damaging Het
Mogat2 C A 7: 99,232,568 A54S possibly damaging Het
Myh15 T A 16: 49,155,677 D1369E probably benign Het
Nckap1 A T 2: 80,519,842 S840T possibly damaging Het
Ncor1 C T 11: 62,325,486 probably null Het
Nfrkb C A 9: 31,388,954 L14I probably damaging Het
Notch1 C A 2: 26,472,905 A950S probably benign Het
Notch3 T C 17: 32,143,436 E1405G probably benign Het
Nsd2 C A 5: 33,843,578 D146E probably damaging Het
Oc90 T C 15: 65,889,591 T193A probably benign Het
Olfr1090 T A 2: 86,754,499 K80* probably null Het
Olfr1356 A T 10: 78,847,597 V106E probably damaging Het
Olfr150 C A 9: 39,737,715 A300D probably damaging Het
Orc2 A T 1: 58,492,855 probably null Het
Pacsin2 T C 15: 83,386,686 H254R probably damaging Het
Pif1 T A 9: 65,589,562 M319K probably damaging Het
Prag1 G A 8: 36,103,046 R261H possibly damaging Het
Ptprq G A 10: 107,638,839 T1335I probably damaging Het
Ryr3 A G 2: 112,660,054 Y3812H probably damaging Het
Sgo2b G A 8: 63,927,315 Q828* probably null Het
Skint6 A G 4: 113,283,626 V6A probably benign Het
Slc16a13 A G 11: 70,220,514 I55T probably damaging Het
Slc22a3 A T 17: 12,425,629 W490R probably damaging Het
Speer4b G T 5: 27,497,883 H208N probably benign Het
Tas2r124 T C 6: 132,755,415 L229S probably damaging Het
Tlr4 T C 4: 66,833,887 probably benign Het
Tmed1 G T 9: 21,510,073 T35K probably damaging Het
Tubgcp5 C A 7: 55,796,031 probably benign Het
Ugt2b34 A G 5: 86,904,388 S250P possibly damaging Het
Zfp516 A G 18: 82,993,096 T1085A probably damaging Het
Znfx1 T C 2: 167,037,363 I1698V probably benign Het
Zswim8 G T 14: 20,713,341 W385C probably damaging Het
Other mutations in Cxcr4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00479:Cxcr4 APN 1 128589055 missense probably damaging 1.00
IGL03202:Cxcr4 APN 1 128588904 missense probably damaging 1.00
Rubber_ducky UTSW 1 128589450 missense probably damaging 1.00
R1728:Cxcr4 UTSW 1 128589277 missense probably benign 0.00
R1729:Cxcr4 UTSW 1 128589277 missense probably benign 0.00
R1730:Cxcr4 UTSW 1 128589277 missense probably benign 0.00
R1739:Cxcr4 UTSW 1 128589277 missense probably benign 0.00
R1762:Cxcr4 UTSW 1 128589277 missense probably benign 0.00
R1783:Cxcr4 UTSW 1 128589277 missense probably benign 0.00
R1784:Cxcr4 UTSW 1 128589277 missense probably benign 0.00
R1785:Cxcr4 UTSW 1 128589277 missense probably benign 0.00
R2356:Cxcr4 UTSW 1 128589514 missense probably damaging 1.00
R5199:Cxcr4 UTSW 1 128589546 missense probably damaging 1.00
R5472:Cxcr4 UTSW 1 128589625 missense probably damaging 1.00
R5969:Cxcr4 UTSW 1 128589847 missense probably benign
R6124:Cxcr4 UTSW 1 128589660 missense probably damaging 1.00
R6211:Cxcr4 UTSW 1 128589450 missense probably damaging 1.00
R6228:Cxcr4 UTSW 1 128592183 splice site probably null
R6349:Cxcr4 UTSW 1 128589277 missense possibly damaging 0.78
R6458:Cxcr4 UTSW 1 128589094 missense probably benign 0.05
R6949:Cxcr4 UTSW 1 128589615 missense probably benign
R7230:Cxcr4 UTSW 1 128589790 missense probably damaging 0.98
R7715:Cxcr4 UTSW 1 128589742 missense probably damaging 1.00
R8040:Cxcr4 UTSW 1 128589798 missense not run
Posted On2013-10-07