Incidental Mutation 'R8138:Cx3cr1'
ID 632360
Institutional Source Beutler Lab
Gene Symbol Cx3cr1
Ensembl Gene ENSMUSG00000052336
Gene Name C-X3-C motif chemokine receptor 1
Synonyms
MMRRC Submission 067566-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.088) question?
Stock # R8138 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 119877749-119897362 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 119880649 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 251 (M251K)
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: M251K

PolyPhen 2 Score 0.737 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000063986
Gene: ENSMUSG00000052336
AA Change: M251K

DomainStartEndE-ValueType
Pfam:7tm_1 49 294 8.3e-57 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000177637
AA Change: M251K

PolyPhen 2 Score 0.737 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000136413
Gene: ENSMUSG00000052336
AA Change: M251K

DomainStartEndE-ValueType
Pfam:7tm_1 49 294 3.5e-50 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000215016
AA Change: M251K

PolyPhen 2 Score 0.737 (Sensitivity: 0.85; Specificity: 0.92)
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.6%
  • 10x: 98.9%
  • 20x: 96.5%
Validation Efficiency 98% (52/53)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abat A G 16: 8,418,829 (GRCm39) D141G probably benign Het
Abcc1 A G 16: 14,290,751 (GRCm39) T1454A probably damaging Het
Acan C A 7: 78,748,175 (GRCm39) T982N probably benign Het
Adam5 A G 8: 25,271,778 (GRCm39) L543P probably damaging Het
Akap13 T A 7: 75,351,979 (GRCm39) probably null Het
Akirin1 G A 4: 123,637,238 (GRCm39) P116S probably benign Het
Bzw2 T C 12: 36,159,819 (GRCm39) D236G probably benign Het
C1qtnf2 G A 11: 43,376,838 (GRCm39) G70D probably damaging Het
Cd44 A G 2: 102,662,842 (GRCm39) I566T probably benign Het
Cltb C T 13: 54,746,596 (GRCm39) D135N possibly damaging Het
Cpeb2 T C 5: 43,392,352 (GRCm39) V516A Het
Ect2l A T 10: 18,045,153 (GRCm39) S301T probably damaging Het
Fgd6 A G 10: 93,970,005 (GRCm39) K1218R probably null Het
Fsip2 T C 2: 82,806,141 (GRCm39) V820A possibly damaging Het
Gnas A G 2: 174,140,179 (GRCm39) E116G probably benign Het
Greb1l T C 18: 10,533,060 (GRCm39) Y985H probably benign Het
Gtpbp3 T C 8: 71,945,242 (GRCm39) L438P probably damaging Het
Habp4 A G 13: 64,323,884 (GRCm39) D269G possibly damaging Het
Igf2r A T 17: 12,920,125 (GRCm39) S1405T probably benign Het
Il17rc A G 6: 113,459,500 (GRCm39) D482G probably damaging Het
Kmt2d A G 15: 98,741,534 (GRCm39) I4542T unknown Het
Lag3 A G 6: 124,882,455 (GRCm39) V347A probably damaging Het
Lmtk2 C T 5: 144,112,415 (GRCm39) S1045L probably damaging Het
Mblac2 A G 13: 81,859,769 (GRCm39) D41G probably damaging Het
Mfsd6 C T 1: 52,748,671 (GRCm39) V65I probably benign Het
Neb A G 2: 52,065,707 (GRCm39) V6175A possibly damaging Het
Nin A G 12: 70,089,672 (GRCm39) S1248P Het
Nlrp4b A T 7: 10,449,458 (GRCm39) M554L probably benign Het
Or51ab3 T A 7: 103,201,266 (GRCm39) H91Q probably benign Het
Or5an11 G A 19: 12,246,436 (GRCm39) V281M possibly damaging Het
Or5p59 A T 7: 107,702,764 (GRCm39) S83C possibly damaging Het
Or8k53 T C 2: 86,177,930 (GRCm39) Y60C possibly damaging Het
Pik3r4 C A 9: 105,546,234 (GRCm39) S861R possibly damaging Het
Ppp1r16a T C 15: 76,575,921 (GRCm39) V95A probably damaging Het
Prss40 T C 1: 34,597,080 (GRCm39) Q156R probably damaging Het
Rhbdd3 CACCATGGCTGCTACCATGGCTGCT CACCATGGCTGCT 11: 5,054,303 (GRCm39) probably benign Het
Rnf170 T C 8: 26,616,009 (GRCm39) probably null Het
Smlr1 A G 10: 25,411,939 (GRCm39) V16A probably benign Het
Sowahb A G 5: 93,191,342 (GRCm39) L459P probably benign Het
Srebf2 C T 15: 82,062,966 (GRCm39) R468C probably damaging Het
Tpo T C 12: 30,124,103 (GRCm39) D899G probably benign Het
Traj7 C T 14: 54,448,982 (GRCm39) P19S Het
Trit1 G A 4: 122,937,582 (GRCm39) W131* probably null Het
Vcpip1 GGGAGGCGGCGGCGGCGGCAGCGGAGGAGGCGGCGGCGGC GGGAGGAGGCGGCGGCGGC 1: 9,818,334 (GRCm39) probably benign Het
Vmn1r4 A G 6: 56,934,391 (GRCm39) *298W probably null Het
Vmn2r124 T A 17: 18,283,610 (GRCm39) W435R probably damaging Het
Zbtb41 C T 1: 139,369,545 (GRCm39) R641C probably damaging Het
Zfp84 T A 7: 29,474,797 (GRCm39) F23Y probably damaging Het
Zfp879 G T 11: 50,724,275 (GRCm39) Y260* probably null Het
Zswim9 A T 7: 12,995,337 (GRCm39) F273Y 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
R9455:Cx3cr1 UTSW 9 119,880,659 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GGTGTCCCAGGTATCTTCTGAAC -3'
(R):5'- AACGAGTGTCTGGGTGACTAC -3'

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