Incidental Mutation 'R6228:Cxcr4'
ID 519595
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 044357-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.533) question?
Stock # R6228 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 128515936-128520030 bp(-) (GRCm39)
Type of Mutation splice site (6 bp from exon)
DNA Base Change (assembly) A to C at 128519920 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000053489 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052172] [ENSMUST00000052172] [ENSMUST00000052172] [ENSMUST00000142893]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000052172
SMART Domains Protein: ENSMUSP00000053489
Gene: ENSMUSG00000045382

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 null
Transcript: ENSMUST00000052172
SMART Domains Protein: ENSMUSP00000053489
Gene: ENSMUSG00000045382

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 null
Transcript: ENSMUST00000052172
SMART Domains Protein: ENSMUSP00000053489
Gene: ENSMUSG00000045382

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
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 95.9%
Validation Efficiency 100% (93/93)
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: 93 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc6 G T 7: 45,679,680 (GRCm39) T9K probably benign Het
Ankrd28 T C 14: 31,429,177 (GRCm39) H925R probably damaging Het
Antxrl A T 14: 33,778,556 (GRCm39) T128S probably damaging Het
Atosa A G 9: 74,913,645 (GRCm39) M100V possibly damaging Het
Atp8b5 T C 4: 43,304,674 (GRCm39) Y62H probably damaging Het
Bmpr2 G T 1: 59,906,595 (GRCm39) V563L probably benign Het
Btn1a1 A T 13: 23,648,521 (GRCm39) L104Q probably damaging Het
Caskin1 C G 17: 24,726,154 (GRCm39) D1420E probably damaging Het
Cdc14a A T 3: 116,144,862 (GRCm39) I150N probably damaging Het
Cdc26 C T 4: 62,321,031 (GRCm39) R4Q probably damaging Het
Cfap46 T C 7: 139,236,496 (GRCm39) D160G probably damaging Het
Dab1 C T 4: 104,588,948 (GRCm39) A524V probably benign Het
Dgat1 T C 15: 76,387,493 (GRCm39) N317S possibly damaging Het
Disp1 G A 1: 182,880,589 (GRCm39) T228M possibly damaging Het
Dixdc1 A C 9: 50,614,656 (GRCm39) probably null Het
Dnase1l2 C A 17: 24,661,492 (GRCm39) probably benign Het
Dsg2 T C 18: 20,727,350 (GRCm39) probably null Het
Duox2 A T 2: 122,117,674 (GRCm39) F887I probably benign Het
Duxf4 A G 10: 58,071,344 (GRCm39) M290T probably benign Het
Efcab6 T C 15: 83,851,825 (GRCm39) D351G possibly damaging Het
Ep400 A G 5: 110,818,808 (GRCm39) V2621A probably damaging Het
Epg5 G T 18: 77,991,677 (GRCm39) V125F possibly damaging Het
Ephb1 T C 9: 101,800,783 (GRCm39) R953G probably damaging Het
Etfdh G T 3: 79,519,336 (GRCm39) Y272* probably null Het
Fam117b A G 1: 60,008,207 (GRCm39) E347G probably damaging Het
Gfra3 A T 18: 34,828,846 (GRCm39) C183S probably damaging Het
Gmip A G 8: 70,268,773 (GRCm39) D466G probably damaging Het
Golga5 G A 12: 102,450,740 (GRCm39) M464I probably benign Het
Gpd1 A T 15: 99,621,146 (GRCm39) Q320L possibly damaging Het
H2-Oa G T 17: 34,312,851 (GRCm39) D43Y probably damaging Het
Hecw1 T A 13: 14,520,623 (GRCm39) I205F probably damaging Het
Ighv8-13 A G 12: 115,728,973 (GRCm39) Y95H probably damaging Het
Igkv6-20 T C 6: 70,313,081 (GRCm39) M31V possibly damaging Het
Itih1 T C 14: 30,653,217 (GRCm39) D737G probably benign Het
Kcnc4 G C 3: 107,355,693 (GRCm39) H252D probably damaging Het
Kcnj14 T A 7: 45,468,921 (GRCm39) T195S probably damaging Het
Limch1 A T 5: 67,173,845 (GRCm39) D642V probably damaging Het
Lrp2 T G 2: 69,312,710 (GRCm39) D2526A possibly damaging Het
Lrrc8a A G 2: 30,146,565 (GRCm39) T460A possibly damaging Het
Lrrn4cl A G 19: 8,829,135 (GRCm39) T38A probably benign Het
Lypd8 A T 11: 58,277,629 (GRCm39) Q137L possibly damaging Het
Mapkapk3 A G 9: 107,137,262 (GRCm39) Y206H probably damaging Het
Mrc1 G A 2: 14,276,115 (GRCm39) G483D probably benign Het
Mrpl35 C A 6: 71,800,661 (GRCm39) probably benign Het
Mycbp2 T A 14: 103,497,665 (GRCm39) H936L probably benign Het
Myh3 A T 11: 66,978,312 (GRCm39) Y433F probably benign Het
Napb C T 2: 148,540,098 (GRCm39) probably null Het
Nbeal1 C A 1: 60,335,083 (GRCm39) Q2288K probably benign Het
Ndst3 G A 3: 123,465,301 (GRCm39) Q224* probably null Het
Nkapd1 A G 9: 50,518,971 (GRCm39) S214P possibly damaging Het
Nkd2 A G 13: 73,969,579 (GRCm39) S284P probably benign Het
Or10a2 T C 7: 106,673,343 (GRCm39) Y103H probably damaging Het
Or5b12 A T 19: 12,897,301 (GRCm39) V124E probably damaging Het
Or6k2 G A 1: 173,979,712 (GRCm39) S210N probably benign Het
Or8h10 T C 2: 86,809,035 (GRCm39) Y35C probably damaging Het
Pcdhb8 A G 18: 37,490,037 (GRCm39) T572A probably benign Het
Pcdhb9 A G 18: 37,535,115 (GRCm39) I370V probably benign Het
Pcsk5 T G 19: 17,558,631 (GRCm39) E592A possibly damaging Het
Pigc T C 1: 161,798,036 (GRCm39) V6A probably benign Het
Pla2g6 T G 15: 79,189,924 (GRCm39) I389L probably benign Het
Pnliprp2 T C 19: 58,751,874 (GRCm39) probably null Het
Psmb11 T C 14: 54,863,646 (GRCm39) V288A probably benign Het
Rapgef5 A G 12: 117,685,398 (GRCm39) probably null Het
Rcn3 T C 7: 44,732,720 (GRCm39) N316S probably damaging Het
Rgs6 A G 12: 83,112,738 (GRCm39) K183E probably damaging Het
Rhoc A G 3: 104,700,297 (GRCm39) probably null Het
Serinc5 T C 13: 92,844,616 (GRCm39) C453R probably damaging Het
Slc14a1 A C 18: 78,159,614 (GRCm39) M93R probably damaging Het
Slc25a3 A T 10: 90,958,090 (GRCm39) D83E probably damaging Het
Slc36a3 T C 11: 55,015,777 (GRCm39) Y459C probably benign Het
Slc44a5 A T 3: 153,944,800 (GRCm39) Y139F probably benign Het
Spag17 A T 3: 99,929,918 (GRCm39) Q539L probably benign Het
Stap2 C T 17: 56,306,976 (GRCm39) V234M probably damaging Het
Stard9 A G 2: 120,544,231 (GRCm39) Y4450C probably damaging Het
Taf6l C T 19: 8,756,030 (GRCm39) R206Q probably benign Het
Tbc1d23 C T 16: 57,003,266 (GRCm39) V501I probably damaging Het
Thap2 T C 10: 115,208,751 (GRCm39) H123R probably damaging Het
Tlx3 C A 11: 33,152,432 (GRCm39) W221L probably benign Het
Tmem262 T A 19: 6,130,567 (GRCm39) probably null Het
Tpmt C A 13: 47,180,735 (GRCm39) R201S probably benign Het
Trpm6 T C 19: 18,831,655 (GRCm39) S1507P probably damaging Het
Ttc9c T C 19: 8,795,847 (GRCm39) E64G possibly damaging Het
Ttn A T 2: 76,640,790 (GRCm39) S13653T probably damaging Het
Ugt3a1 G T 15: 9,310,726 (GRCm39) W336L possibly damaging Het
Vmn1r215 C A 13: 23,260,633 (GRCm39) N224K probably benign Het
Vmn2r59 C T 7: 41,691,835 (GRCm39) probably null Het
Wdfy3 A G 5: 102,046,295 (GRCm39) S1853P possibly damaging Het
Wdr36 A T 18: 32,975,059 (GRCm39) Y137F possibly damaging Het
Zdhhc17 T C 10: 110,792,216 (GRCm39) D324G probably benign Het
Zfp217 T C 2: 169,961,497 (GRCm39) T277A probably benign Het
Zfp451 A G 1: 33,842,219 (GRCm39) probably benign Het
Zfp709 TCGACG TCG 8: 72,644,552 (GRCm39) probably benign Het
Zfp871 T C 17: 32,994,858 (GRCm39) S106G possibly damaging 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
R2356:Cxcr4 UTSW 1 128,517,251 (GRCm39) missense probably damaging 1.00
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
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'- TAGGAAAGCTCCATCTGAACCC -3'
(R):5'- CAGTGGCTCTTGGACTTCTG -3'

Sequencing Primer
(F):5'- GGCAAAAATATTCCTATCTTCCTCC -3'
(R):5'- GGACTTCTGTTTGCCCGCG -3'
Posted On 2018-06-04