Incidental Mutation 'R2356:Cxcr4'
ID 246908
Institutional Source Beutler Lab
Gene Symbol Cxcr4
Ensembl Gene ENSMUSG00000045382
Gene Name C-X-C motif chemokine receptor 4
Synonyms Cmkar4, PB-CKR, fusin, b2b220Clo, CD184, Sdf1r
MMRRC Submission 040338-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.533) question?
Stock # R2356 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 128515936-128520030 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 128517251 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 135 (Y135H)
Ref Sequence ENSEMBL: ENSMUSP00000120153 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052172] [ENSMUST00000142893]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000052172
AA Change: Y137H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000053489
Gene: ENSMUSG00000045382
AA Change: Y137H

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: Y135H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000120153
Gene: ENSMUSG00000045382
AA Change: Y135H

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
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.7%
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcf3 G T 16: 20,379,249 (GRCm39) R705L probably benign Het
Adcy6 A T 15: 98,494,897 (GRCm39) probably null Het
Ank1 A T 8: 23,575,688 (GRCm39) T145S probably damaging Het
Aph1a T C 3: 95,801,544 (GRCm39) F21S probably benign Het
Apoa5 T A 9: 46,181,341 (GRCm39) V139E probably damaging Het
Arhgap44 T C 11: 64,900,851 (GRCm39) K595R probably damaging Het
Arhgap5 C T 12: 52,565,930 (GRCm39) P967L probably benign Het
Atp13a5 A T 16: 29,099,887 (GRCm39) I683N probably damaging Het
Cdc6 A G 11: 98,810,118 (GRCm39) T476A probably benign Het
Cdk10 T C 8: 123,955,908 (GRCm39) V199A probably damaging Het
Ces2h G A 8: 105,742,570 (GRCm39) C94Y probably damaging Het
Clcn1 G A 6: 42,268,559 (GRCm39) G155D probably damaging Het
Dapp1 A G 3: 137,643,510 (GRCm39) V184A possibly damaging Het
Dhrs7 A C 12: 72,699,155 (GRCm39) S276A probably benign Het
Dlg5 A G 14: 24,220,496 (GRCm39) probably null Het
Dnaaf1 T A 8: 120,315,026 (GRCm39) F278Y probably damaging Het
Dnaaf2 A G 12: 69,244,992 (GRCm39) F23S probably benign Het
En2 G T 5: 28,371,330 (GRCm39) probably benign Het
Erbb4 T A 1: 68,117,755 (GRCm39) M887L probably benign Het
Exoc5 T C 14: 49,253,738 (GRCm39) M482V probably benign Het
Foxk1 A G 5: 142,441,164 (GRCm39) I571V possibly damaging Het
Fry G A 5: 150,394,897 (GRCm39) G650D probably benign Het
Gm8225 T C 17: 26,762,378 (GRCm39) S190P probably damaging Het
Gpx5 G C 13: 21,475,538 (GRCm39) H63D possibly damaging Het
Ipo9 A T 1: 135,334,555 (GRCm39) S285T probably benign Het
Itga8 T C 2: 12,204,952 (GRCm39) H495R probably benign Het
Klf11 T C 12: 24,703,582 (GRCm39) S6P probably damaging Het
Krtap8-1 A T 16: 89,284,789 (GRCm39) Y3N possibly damaging Het
Krtap8-1 G T 16: 89,284,790 (GRCm39) Y2* probably null Het
Lama1 T A 17: 68,117,109 (GRCm39) L2468Q probably damaging Het
Lmo7 T C 14: 102,124,381 (GRCm39) L280S probably damaging Het
Matk G A 10: 81,097,377 (GRCm39) probably null Het
Mcmdc2 A G 1: 10,001,026 (GRCm39) T434A possibly damaging Het
Mst1r T A 9: 107,795,069 (GRCm39) L1283Q probably damaging Het
Muc21 A G 17: 35,932,563 (GRCm39) probably benign Het
Nbn T A 4: 15,970,863 (GRCm39) I282N probably damaging Het
Ncln A G 10: 81,328,756 (GRCm39) V174A probably benign Het
Nipa2 G A 7: 55,582,714 (GRCm39) H344Y probably benign Het
Nlrp4g A G 9: 124,349,306 (GRCm38) noncoding transcript Het
Or56b1 G T 7: 104,285,834 (GRCm39) E318* probably null Het
Or6c38 T C 10: 128,929,761 (GRCm39) I27M probably benign Het
Pik3r5 T C 11: 68,383,743 (GRCm39) S521P probably damaging Het
Pkhd1l1 C T 15: 44,396,415 (GRCm39) T1979M probably benign Het
Plekhn1 T G 4: 156,307,158 (GRCm39) D464A probably damaging Het
Ppp4r1 T A 17: 66,140,045 (GRCm39) Y648N probably damaging Het
Prkaa2 C T 4: 104,896,918 (GRCm39) probably null Het
Prkdc T A 16: 15,502,068 (GRCm39) H828Q probably benign Het
Prss40 A T 1: 34,598,984 (GRCm39) Y69* probably null Het
Prx C T 7: 27,207,284 (GRCm39) probably benign Het
Psmd11 T A 11: 80,319,530 (GRCm39) S7T possibly damaging Het
Psmd14 A T 2: 61,630,351 (GRCm39) H287L probably benign Het
Rcor1 T C 12: 111,076,226 (GRCm39) Y297H probably damaging Het
Rnf40 T G 7: 127,190,748 (GRCm39) V272G probably damaging Het
Serpina3f G T 12: 104,183,626 (GRCm39) E163* probably null Het
Setd4 G A 16: 93,387,871 (GRCm39) T205I probably damaging Het
Shroom1 A T 11: 53,357,274 (GRCm39) T646S probably benign Het
Smg8 G C 11: 86,976,554 (GRCm39) S342R probably benign Het
Spata31h1 A G 10: 82,119,789 (GRCm39) V4407A possibly damaging Het
Trhde T C 10: 114,237,421 (GRCm39) Y986C probably damaging Het
Tulp2 A T 7: 45,168,052 (GRCm39) T155S possibly damaging Het
Vmn1r212 A T 13: 23,068,120 (GRCm39) L71* probably null Het
Wnk2 A T 13: 49,192,644 (GRCm39) C2032* probably null Het
Zfp429 A G 13: 67,538,746 (GRCm39) Y233H probably benign Het
Zfp809 C A 9: 22,154,336 (GRCm39) T351K probably benign Het
Other mutations in Cxcr4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00479:Cxcr4 APN 1 128,516,792 (GRCm39) missense probably damaging 1.00
IGL01343:Cxcr4 APN 1 128,517,292 (GRCm39) missense probably damaging 1.00
IGL03202:Cxcr4 APN 1 128,516,641 (GRCm39) missense probably damaging 1.00
Rubber_ducky UTSW 1 128,517,187 (GRCm39) missense probably damaging 1.00
R1728:Cxcr4 UTSW 1 128,517,014 (GRCm39) missense probably benign 0.00
R1729:Cxcr4 UTSW 1 128,517,014 (GRCm39) missense probably benign 0.00
R1730:Cxcr4 UTSW 1 128,517,014 (GRCm39) missense probably benign 0.00
R1739:Cxcr4 UTSW 1 128,517,014 (GRCm39) missense probably benign 0.00
R1762:Cxcr4 UTSW 1 128,517,014 (GRCm39) missense probably benign 0.00
R1783:Cxcr4 UTSW 1 128,517,014 (GRCm39) missense probably benign 0.00
R1784:Cxcr4 UTSW 1 128,517,014 (GRCm39) missense probably benign 0.00
R1785:Cxcr4 UTSW 1 128,517,014 (GRCm39) missense probably benign 0.00
R5199:Cxcr4 UTSW 1 128,517,283 (GRCm39) missense probably damaging 1.00
R5472:Cxcr4 UTSW 1 128,517,362 (GRCm39) missense probably damaging 1.00
R5969:Cxcr4 UTSW 1 128,517,584 (GRCm39) missense probably benign
R6124:Cxcr4 UTSW 1 128,517,397 (GRCm39) missense probably damaging 1.00
R6211:Cxcr4 UTSW 1 128,517,187 (GRCm39) missense probably damaging 1.00
R6228:Cxcr4 UTSW 1 128,519,920 (GRCm39) splice site probably null
R6349:Cxcr4 UTSW 1 128,517,014 (GRCm39) missense possibly damaging 0.78
R6458:Cxcr4 UTSW 1 128,516,831 (GRCm39) missense probably benign 0.05
R6949:Cxcr4 UTSW 1 128,517,352 (GRCm39) missense probably benign
R7230:Cxcr4 UTSW 1 128,517,527 (GRCm39) missense probably damaging 0.98
R7715:Cxcr4 UTSW 1 128,517,479 (GRCm39) missense probably damaging 1.00
R8040:Cxcr4 UTSW 1 128,517,535 (GRCm39) missense probably damaging 1.00
R8996:Cxcr4 UTSW 1 128,517,538 (GRCm39) missense possibly damaging 0.56
R9789:Cxcr4 UTSW 1 128,516,884 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- CGGTCACAGATGTACCTGTC -3'
(R):5'- GATCCTGGTCATGGGTTACC -3'

Sequencing Primer
(F):5'- GGTCACAGATGTACCTGTCATCCC -3'
(R):5'- CATGACGGACAAGTACCGGC -3'
Posted On 2014-10-30