Incidental Mutation 'IGL03202:Cxcr4'
ID413028
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: 0.516) question?
Stock #IGL03202
Quality Score
Status
Chromosome1
Chromosomal Location128588199-128592293 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 128588904 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Threonine at position 340 (K340T)
Ref Sequence ENSEMBL: ENSMUSP00000053489 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052172] [ENSMUST00000142893]
Predicted Effect probably damaging
Transcript: ENSMUST00000052172
AA Change: K340T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000053489
Gene: ENSMUSG00000045382
AA Change: K340T

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 benign
Transcript: ENSMUST00000142893
SMART Domains Protein: ENSMUSP00000120153
Gene: ENSMUSG00000045382

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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700113H08Rik T C 10: 87,074,047 M1T probably null Het
2810474O19Rik G A 6: 149,326,439 V328I probably benign Het
Ace T A 11: 105,976,962 I168N probably damaging Het
Actr10 T G 12: 70,940,831 C37W probably damaging Het
Atp10b T C 11: 43,234,441 probably null Het
Bend5 A G 4: 111,433,244 N146D possibly damaging Het
Cacna1b A G 2: 24,651,112 F1347L probably damaging Het
Crybg3 T A 16: 59,494,709 I2910F probably damaging Het
Cspg4 T C 9: 56,897,739 S1945P possibly damaging Het
Dnah6 T A 6: 73,144,700 Y1433F probably damaging Het
Eif2ak4 T C 2: 118,400,620 V77A probably damaging Het
Fscn3 A T 6: 28,434,452 H342L probably benign Het
Gm884 T A 11: 103,615,373 E1923V probably benign Het
Gm9843 T C 16: 76,403,346 noncoding transcript Het
Hdac9 T C 12: 34,373,951 E520G probably damaging Het
Itm2b G A 14: 73,365,789 P120L probably damaging Het
Itpa T A 2: 130,667,939 probably benign Het
Lce1l A T 3: 92,850,324 C76S unknown Het
Lin54 A G 5: 100,475,814 S55P possibly damaging Het
Mtfmt C A 9: 65,448,726 P303Q probably damaging Het
Nae1 A T 8: 104,518,179 probably benign Het
Ncapd3 T A 9: 27,071,715 probably benign Het
Olfr381 G A 11: 73,486,525 Q100* probably null Het
Olfr525 A G 7: 140,323,106 M136V possibly damaging Het
Pcnx2 A C 8: 125,772,044 I1572S probably damaging Het
Piezo2 A T 18: 63,011,598 Y2809N probably damaging Het
Pygl G T 12: 70,199,646 Q376K probably benign Het
Rrp12 T C 19: 41,868,766 probably null Het
Sephs1 A T 2: 4,889,263 I92F possibly damaging Het
Taar4 T C 10: 23,960,794 F101L probably damaging Het
Tenm2 A G 11: 36,024,548 I2053T probably damaging Het
Tgfbr3 T G 5: 107,109,764 probably benign Het
Vmn2r108 A T 17: 20,471,057 Y401* probably null Het
Vmn2r87 A G 10: 130,497,222 M53T probably benign Het
Zfp941 A G 7: 140,813,053 V131A probably benign Het
Other mutations in Cxcr4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00479:Cxcr4 APN 1 128589055 missense probably damaging 1.00
IGL01343:Cxcr4 APN 1 128589555 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
Posted On2016-08-02