Incidental Mutation 'IGL03339:Cx3cr1'
ID 417156
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cx3cr1
Ensembl Gene ENSMUSG00000052336
Gene Name C-X3-C motif chemokine receptor 1
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.092) question?
Stock # IGL03339
Quality Score
Status
Chromosome 9
Chromosomal Location 119877749-119897362 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 119880503 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Stop codon at position 300 (K300*)
Ref Sequence ENSEMBL: ENSMUSP00000150463 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064165] [ENSMUST00000177637] [ENSMUST00000215016]
AlphaFold Q9Z0D9
Predicted Effect probably null
Transcript: ENSMUST00000064165
AA Change: K300*
SMART Domains Protein: ENSMUSP00000063986
Gene: ENSMUSG00000052336
AA Change: K300*

DomainStartEndE-ValueType
Pfam:7tm_1 49 294 8.3e-57 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000177637
AA Change: K300*
SMART Domains Protein: ENSMUSP00000136413
Gene: ENSMUSG00000052336
AA Change: K300*

DomainStartEndE-ValueType
Pfam:7tm_1 49 294 3.5e-50 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000215016
AA Change: K300*
Coding Region Coverage
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6820408C15Rik A G 2: 152,284,376 (GRCm39) E323G probably damaging Het
A4gnt T C 9: 99,502,601 (GRCm39) S254P probably damaging Het
Actn4 A G 7: 28,601,407 (GRCm39) L447P probably damaging Het
Agbl2 C A 2: 90,627,907 (GRCm39) S237R probably damaging Het
Apc G A 18: 34,431,527 (GRCm39) D309N probably damaging Het
Arhgef3 A G 14: 27,123,814 (GRCm39) M492V probably damaging Het
Atp10b T A 11: 43,121,442 (GRCm39) M1035K probably null Het
Cfap69 T A 5: 5,636,436 (GRCm39) probably benign Het
Ctf1 A G 7: 127,313,166 (GRCm39) N24S probably benign Het
Ddx25 A T 9: 35,453,299 (GRCm39) Y484N probably damaging Het
Eif4g1 A G 16: 20,499,734 (GRCm39) E506G possibly damaging Het
Ficd G T 5: 113,876,800 (GRCm39) R325L probably benign Het
G6pc2 A G 2: 69,051,239 (GRCm39) probably benign Het
Gm11168 C A 9: 3,004,767 (GRCm39) P103T probably benign Het
Hbb-y A T 7: 103,501,976 (GRCm39) H98Q probably damaging Het
Hmcn1 A G 1: 150,577,720 (GRCm39) S2014P probably benign Het
Hoxc5 T C 15: 102,922,568 (GRCm39) Y19H probably damaging Het
Igfbpl1 A G 4: 45,813,555 (GRCm39) probably benign Het
Ighg2c A C 12: 113,251,614 (GRCm39) V171G unknown Het
Kctd13 A G 7: 126,544,190 (GRCm39) D296G probably benign Het
Mfsd2b A C 12: 4,924,335 (GRCm39) M1R probably null Het
Nipbl A G 15: 8,380,360 (GRCm39) S811P probably benign Het
Or10al2 G A 17: 37,983,448 (GRCm39) C178Y possibly damaging Het
Or10al3 G T 17: 38,011,682 (GRCm39) M40I probably damaging Het
Or52r1 G A 7: 102,536,989 (GRCm39) R124C probably benign Het
Or5b122 T G 19: 13,563,439 (GRCm39) M257R probably damaging Het
Pcolce2 T C 9: 95,560,393 (GRCm39) probably benign Het
Pik3c2a G T 7: 116,017,256 (GRCm39) T167K possibly damaging Het
Ppp1r18 A G 17: 36,178,938 (GRCm39) D271G probably benign Het
Rnf213 T C 11: 119,333,830 (GRCm39) I3013T probably damaging Het
Rock1 A T 18: 10,097,493 (GRCm39) M765K probably benign Het
Sec16a T C 2: 26,325,945 (GRCm39) Y1244C probably benign Het
Taar7d T C 10: 23,903,204 (GRCm39) C29R possibly damaging Het
Tlcd4 C T 3: 121,022,489 (GRCm39) probably benign Het
Ttn A C 2: 76,572,264 (GRCm39) F26210V probably damaging Het
Ube2b A T 11: 51,877,534 (GRCm39) V145D probably damaging Het
Vmn1r219 T G 13: 23,347,580 (GRCm39) S256R possibly damaging Het
Other mutations in Cx3cr1
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R9455:Cx3cr1 UTSW 9 119,880,659 (GRCm39) missense probably damaging 1.00
Posted On 2016-08-02