Incidental Mutation 'R8081:Cx3cr1'
ID 629356
Institutional Source Beutler Lab
Gene Symbol Cx3cr1
Ensembl Gene ENSMUSG00000052336
Gene Name C-X3-C motif chemokine receptor 1
Synonyms
MMRRC Submission 067514-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.092) question?
Stock # R8081 (G1)
Quality Score 225.009
Status Not validated
Chromosome 9
Chromosomal Location 119877749-119897362 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 119880878 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 175 (E175K)
Ref Sequence ENSEMBL: ENSMUSP00000063986 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064165] [ENSMUST00000177637] [ENSMUST00000215016]
AlphaFold Q9Z0D9
Predicted Effect possibly damaging
Transcript: ENSMUST00000064165
AA Change: E175K

PolyPhen 2 Score 0.807 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000063986
Gene: ENSMUSG00000052336
AA Change: E175K

DomainStartEndE-ValueType
Pfam:7tm_1 49 294 8.3e-57 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000177637
AA Change: E175K

PolyPhen 2 Score 0.807 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000136413
Gene: ENSMUSG00000052336
AA Change: E175K

DomainStartEndE-ValueType
Pfam:7tm_1 49 294 3.5e-50 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000215016
AA Change: E175K

PolyPhen 2 Score 0.807 (Sensitivity: 0.84; Specificity: 0.93)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.9%
  • 20x: 95.7%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Fractalkine is a transmembrane protein and chemokine involved in the adhesion and migration of leukocytes. The protein encoded by this gene is a receptor for fractalkine. The encoded protein also is a coreceptor for HIV-1, and some variations in this gene lead to increased susceptibility to HIV-1 infection and rapid progression to AIDS. Four transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jan 2010]
PHENOTYPE: Age related retinal degeneration with abnormal subretinal microglial cell accumulation in one homozygous null mice. Other null mice shows impaired monocyte recruitment after vascular injury, kidney ischemia and reperfusion, and bacterial infection of the instestine. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700003E16Rik A T 6: 83,138,313 (GRCm39) E119V probably damaging Het
Adamts2 A T 11: 50,668,004 (GRCm39) D522V probably damaging Het
Agtpbp1 A T 13: 59,676,221 (GRCm39) L183* probably null Het
Arhgap10 T C 8: 78,109,375 (GRCm39) I403V possibly damaging Het
Arhgef11 T C 3: 87,632,949 (GRCm39) S687P probably damaging Het
Cdhr1 C T 14: 36,815,967 (GRCm39) V144I probably benign Het
Cdk20 A G 13: 64,586,766 (GRCm39) I339V probably benign Het
Ceacam13 A G 7: 17,747,113 (GRCm39) K189E probably damaging Het
Cep290 C T 10: 100,394,038 (GRCm39) Q2082* probably null Het
Cgrrf1 A G 14: 47,091,468 (GRCm39) T331A probably benign Het
Cntn4 G A 6: 106,651,568 (GRCm39) V706I possibly damaging Het
Csrnp2 T C 15: 100,387,462 (GRCm39) D2G probably damaging Het
Cux2 A G 5: 122,007,519 (GRCm39) I714T probably benign Het
Dennd1c G A 17: 57,381,139 (GRCm39) P163L possibly damaging Het
Dhtkd1 C T 2: 5,928,919 (GRCm39) E251K probably damaging Het
Epas1 C T 17: 87,136,797 (GRCm39) P787S probably benign Het
Epha2 T C 4: 141,049,605 (GRCm39) V737A probably damaging Het
Fam50b G A 13: 34,931,084 (GRCm39) E187K possibly damaging Het
Fcsk T A 8: 111,615,783 (GRCm39) R515S probably benign Het
Fscb A T 12: 64,518,802 (GRCm39) M888K unknown Het
Gldc ACGACC AC 19: 30,135,987 (GRCm39) probably null Het
Gm14443 A T 2: 175,012,238 (GRCm39) C69* probably null Het
Gm19668 G A 10: 77,634,420 (GRCm39) A183V unknown Het
Gm49368 A G 7: 127,726,280 (GRCm39) R1231G unknown Het
Grin2c T C 11: 115,140,719 (GRCm39) Y1133C probably damaging Het
H3c13 C A 3: 96,176,309 (GRCm39) Y100* probably null Het
Hydin T C 8: 111,092,101 (GRCm39) S425P possibly damaging Het
Ifnl3 T C 7: 28,223,682 (GRCm39) S173P probably damaging Het
Igkv4-63 A T 6: 69,355,018 (GRCm39) S88T possibly damaging Het
Klhl5 C A 5: 65,320,268 (GRCm39) N607K possibly damaging Het
Lag3 A T 6: 124,882,410 (GRCm39) L362* probably null Het
Lats2 C A 14: 57,937,968 (GRCm39) G174C probably damaging Het
Mcm6 T C 1: 128,265,905 (GRCm39) E622G probably damaging Het
Med13l C A 5: 118,866,333 (GRCm39) H462Q probably damaging Het
Mrpl53 T A 6: 83,086,159 (GRCm39) F23I probably damaging Het
Muc5b T G 7: 141,417,743 (GRCm39) I3563S possibly damaging Het
Myo16 A C 8: 10,372,743 (GRCm39) L147F unknown Het
Npc1l1 G C 11: 6,167,768 (GRCm39) Q1008E probably benign Het
Npy4r A G 14: 33,868,524 (GRCm39) S255P probably damaging Het
Nup210 T C 6: 91,053,657 (GRCm39) N287D probably benign Het
Opn3 T A 1: 175,493,135 (GRCm39) H143L probably damaging Het
Or12e7 G T 2: 87,287,513 (GRCm39) M1I probably null Het
Or12j3 A T 7: 139,952,972 (GRCm39) L184M probably damaging Het
Or12j5 A T 7: 140,084,369 (GRCm39) M1K probably null Het
Or4k2 T A 14: 50,423,825 (GRCm39) N284I probably damaging Het
Or5ap2b-ps1 C T 2: 85,693,839 (GRCm39) P28L probably damaging Het
Pdcd7 C T 9: 65,253,967 (GRCm39) R182C probably damaging Het
Peg10 GC GCTCC 6: 4,756,452 (GRCm39) probably benign Het
Picalm T A 7: 89,840,451 (GRCm39) L540* probably null Het
Ppp1r21 T A 17: 88,866,272 (GRCm39) I356N probably damaging Het
Rgs6 C T 12: 83,094,347 (GRCm39) Q67* probably null Het
Ripor2 C A 13: 24,897,683 (GRCm39) Q794K probably benign Het
Rnf216 A T 5: 143,013,719 (GRCm39) I702N probably damaging Het
Robo4 T C 9: 37,316,936 (GRCm39) L417P probably damaging Het
Samhd1 A T 2: 156,943,358 (GRCm39) C605* probably null Het
Scaper C T 9: 55,823,330 (GRCm39) G22D unknown Het
Senp5 T C 16: 31,784,577 (GRCm39) T692A probably damaging Het
Six6 G T 12: 72,986,875 (GRCm39) G16W probably damaging Het
Slc38a8 A T 8: 120,212,269 (GRCm39) M358K possibly damaging Het
Snx2 T C 18: 53,349,459 (GRCm39) F407L probably benign Het
Srrm2 T A 17: 24,039,219 (GRCm39) N1954K probably damaging Het
Syk A T 13: 52,792,195 (GRCm39) M429L probably benign Het
Tln2 T A 9: 67,264,029 (GRCm39) N537Y probably damaging Het
Usp29 T A 7: 6,966,629 (GRCm39) M824K probably benign Het
Utrn A G 10: 12,423,803 (GRCm39) probably benign Het
Wdr37 C T 13: 8,885,406 (GRCm39) D346N probably damaging Het
Zfpm2 T A 15: 40,965,644 (GRCm39) C710S probably damaging Het
Other mutations in Cx3cr1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03339:Cx3cr1 APN 9 119,880,503 (GRCm39) nonsense probably null
R0507:Cx3cr1 UTSW 9 119,881,022 (GRCm39) missense probably damaging 1.00
R1777:Cx3cr1 UTSW 9 119,880,659 (GRCm39) missense probably damaging 1.00
R2099:Cx3cr1 UTSW 9 119,881,339 (GRCm39) missense probably benign 0.00
R2120:Cx3cr1 UTSW 9 119,880,749 (GRCm39) missense probably damaging 1.00
R3746:Cx3cr1 UTSW 9 119,881,132 (GRCm39) missense probably damaging 1.00
R3747:Cx3cr1 UTSW 9 119,881,132 (GRCm39) missense probably damaging 1.00
R3748:Cx3cr1 UTSW 9 119,881,132 (GRCm39) missense probably damaging 1.00
R3939:Cx3cr1 UTSW 9 119,880,710 (GRCm39) missense probably benign
R4629:Cx3cr1 UTSW 9 119,880,730 (GRCm39) missense probably damaging 1.00
R6185:Cx3cr1 UTSW 9 119,880,444 (GRCm39) missense probably benign 0.06
R6244:Cx3cr1 UTSW 9 119,880,760 (GRCm39) missense probably damaging 1.00
R6790:Cx3cr1 UTSW 9 119,880,833 (GRCm39) missense probably damaging 1.00
R7448:Cx3cr1 UTSW 9 119,881,282 (GRCm39) missense probably benign 0.00
R8138:Cx3cr1 UTSW 9 119,880,649 (GRCm39) missense possibly damaging 0.74
R9455:Cx3cr1 UTSW 9 119,880,659 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACCAGGAGGATGAGTCTGAC -3'
(R):5'- ATGTGCAAGCTCACGACTGC -3'

Sequencing Primer
(F):5'- AGGATGAGTCTGACGGCTC -3'
(R):5'- CTTTGGGGGCATATTCTTCATCAC -3'
Posted On 2020-06-30