Incidental Mutation 'R9455:Cx3cr1'
ID 714541
Institutional Source Beutler Lab
Gene Symbol Cx3cr1
Ensembl Gene ENSMUSG00000052336
Gene Name C-X3-C motif chemokine receptor 1
Synonyms
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.088) question?
Stock # R9455 (G1)
Quality Score 225.009
Status Not validated
Chromosome 9
Chromosomal Location 119877749-119897362 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 119880659 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 248 (Y248N)
Ref Sequence ENSEMBL: ENSMUSP00000063986 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064165] [ENSMUST00000177637] [ENSMUST00000215016]
AlphaFold Q9Z0D9
Predicted Effect probably damaging
Transcript: ENSMUST00000064165
AA Change: Y248N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000063986
Gene: ENSMUSG00000052336
AA Change: Y248N

DomainStartEndE-ValueType
Pfam:7tm_1 49 294 8.3e-57 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000177637
AA Change: Y248N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000136413
Gene: ENSMUSG00000052336
AA Change: Y248N

DomainStartEndE-ValueType
Pfam:7tm_1 49 294 3.5e-50 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000215016
AA Change: Y248N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T C 11: 9,353,897 (GRCm39) Y3740H probably damaging Het
Acsl6 G T 11: 54,210,752 (GRCm39) probably benign Het
Adamts5 C T 16: 85,667,017 (GRCm39) D492N probably damaging Het
Als2 T C 1: 59,219,296 (GRCm39) E1218G probably damaging Het
Bcl2l15 C T 3: 103,743,369 (GRCm39) T90I unknown Het
Bsn A G 9: 107,988,531 (GRCm39) V2407A unknown Het
Casp8ap2 T C 4: 32,643,924 (GRCm39) M999T possibly damaging Het
Ccdc66 G A 14: 27,208,872 (GRCm39) P461S probably benign Het
Cd46 G A 1: 194,744,704 (GRCm39) L345F possibly damaging Het
Cep295 A T 9: 15,245,046 (GRCm39) S1137T possibly damaging Het
Chd7 A G 4: 8,752,061 (GRCm39) Y186C unknown Het
Clca3b T A 3: 144,529,023 (GRCm39) T884S unknown Het
Cndp2 T A 18: 84,690,246 (GRCm39) Y232F probably benign Het
Dnm3 A T 1: 162,148,524 (GRCm39) N282K possibly damaging Het
Emilin2 T C 17: 71,581,485 (GRCm39) I414V probably benign Het
F3 A T 3: 121,527,866 (GRCm39) N288I probably damaging Het
Fat4 T C 3: 38,945,412 (GRCm39) L1435P Het
Fbxw14 A T 9: 109,103,567 (GRCm39) N371K probably benign Het
Firrm G T 1: 163,781,721 (GRCm39) T902K probably benign Het
Fn1 T A 1: 71,647,112 (GRCm39) E1559D probably benign Het
Frrs1 T A 3: 116,695,972 (GRCm39) M497K possibly damaging Het
Gm45861 C T 8: 28,041,394 (GRCm39) Q1000* probably null Het
Gpr152 T C 19: 4,193,844 (GRCm39) S462P probably benign Het
Irgq A G 7: 24,231,217 (GRCm39) N136S probably benign Het
Kdm2b T C 5: 123,099,537 (GRCm39) Y134C probably damaging Het
Klf12 A T 14: 100,347,226 (GRCm39) L35H probably damaging Het
Krt9 TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC 11: 100,079,903 (GRCm39) probably benign Het
Ksr1 A T 11: 78,911,602 (GRCm39) C727S possibly damaging Het
Lpin3 G T 2: 160,737,259 (GRCm39) R102L probably benign Het
Ltv1 T C 10: 13,058,117 (GRCm39) E229G probably damaging Het
Ly6f T A 15: 75,141,648 (GRCm39) Y30* probably null Het
Map2k7 C G 8: 4,293,957 (GRCm39) R168G probably damaging Het
Mep1a T C 17: 43,805,867 (GRCm39) E100G probably benign Het
Mrgpra6 T A 7: 46,838,967 (GRCm39) Y46F probably damaging Het
Mroh6 C A 15: 75,759,905 (GRCm39) R143L probably benign Het
Myom2 T A 8: 15,156,293 (GRCm39) H713Q probably benign Het
Ndn C T 7: 61,998,337 (GRCm39) P61L possibly damaging Het
Or51b6 G T 7: 103,556,200 (GRCm39) V182F Het
Pear1 T A 3: 87,666,488 (GRCm39) T72S possibly damaging Het
Sel1l3 T A 5: 53,289,157 (GRCm39) N888I probably damaging Het
Sell A T 1: 163,894,218 (GRCm39) T171S probably benign Het
Semp2l1 A T 1: 32,585,907 (GRCm39) M1K probably null Het
Sin3b G T 8: 73,450,681 (GRCm39) A37S possibly damaging Het
Sipa1l1 T C 12: 82,434,399 (GRCm39) F723S probably damaging Het
Slc26a8 T C 17: 28,863,588 (GRCm39) T724A probably damaging Het
Slc51a T G 16: 32,305,013 (GRCm39) N25H probably damaging Het
Slc9a4 T C 1: 40,668,612 (GRCm39) F752L probably benign Het
Slco4a1 A C 2: 180,115,370 (GRCm39) D649A probably benign Het
Tax1bp1 T A 6: 52,743,029 (GRCm39) H805Q probably damaging Het
Tgfb1i1 T C 7: 127,852,009 (GRCm39) F303L probably damaging Het
Tsg101 A T 7: 46,563,151 (GRCm39) D34E probably damaging Het
Tspoap1 T C 11: 87,661,359 (GRCm39) S604P probably damaging Het
Ttll2 C A 17: 7,619,692 (GRCm39) W78C probably damaging Het
Ttn A G 2: 76,749,334 (GRCm39) F3905S possibly damaging Het
Txnrd2 G T 16: 18,248,615 (GRCm39) C57F probably damaging Het
Vcan A T 13: 89,837,452 (GRCm39) D2697E probably damaging Het
Vwa8 G A 14: 79,300,115 (GRCm39) V983I 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
R8081:Cx3cr1 UTSW 9 119,880,878 (GRCm39) missense possibly damaging 0.81
R8138:Cx3cr1 UTSW 9 119,880,649 (GRCm39) missense possibly damaging 0.74
Predicted Primers PCR Primer
(F):5'- GGTGTCCCAGGTATCTTCTGAAC -3'
(R):5'- AACGAGTGTCTGGGTGACTAC -3'

Sequencing Primer
(F):5'- TGAACTTTTCCCCGGCAAAGG -3'
(R):5'- TCCTGCAGGAAATGTGGC -3'
Posted On 2022-06-15