Incidental Mutation 'R5748:Cxcr6'
ID 445874
Institutional Source Beutler Lab
Gene Symbol Cxcr6
Ensembl Gene ENSMUSG00000048521
Gene Name C-X-C motif chemokine receptor 6
Synonyms STRL33, BONZO
MMRRC Submission 043355-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5748 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 123635542-123640819 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 123639406 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 143 (R143C)
Ref Sequence ENSEMBL: ENSMUSP00000151182 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049810] [ENSMUST00000084715] [ENSMUST00000167595] [ENSMUST00000216072]
AlphaFold Q9EQ16
Predicted Effect probably damaging
Transcript: ENSMUST00000049810
AA Change: R136C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000060776
Gene: ENSMUSG00000048521
AA Change: R136C

DomainStartEndE-ValueType
Pfam:7tm_1 57 297 5.2e-43 PFAM
low complexity region 324 334 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000084715
SMART Domains Protein: ENSMUSP00000081764
Gene: ENSMUSG00000025241

DomainStartEndE-ValueType
Pfam:RUN 19 167 4.7e-12 PFAM
low complexity region 196 206 N/A INTRINSIC
coiled coil region 223 270 N/A INTRINSIC
coiled coil region 348 1110 N/A INTRINSIC
FYVE 1124 1191 2.69e-16 SMART
PDB:1OLM|E 1343 1428 1e-5 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000167595
SMART Domains Protein: ENSMUSP00000133222
Gene: ENSMUSG00000025241

DomainStartEndE-ValueType
Pfam:RUN 20 167 7.8e-12 PFAM
low complexity region 196 206 N/A INTRINSIC
coiled coil region 223 270 N/A INTRINSIC
coiled coil region 348 1110 N/A INTRINSIC
FYVE 1124 1191 2.69e-16 SMART
PDB:1OLM|E 1343 1428 1e-5 PDB
Predicted Effect probably damaging
Transcript: ENSMUST00000216072
AA Change: R143C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.9031 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 96.0%
Validation Efficiency 98% (58/59)
MGI Phenotype PHENOTYPE: A small percentage of mice that are heterozygous or homozygous for a knock-out allele develop medulloblastomas in the cerebellum after 12 months of age. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acan A G 7: 78,739,447 (GRCm39) Q285R probably damaging Het
Acy1 T A 9: 106,313,926 (GRCm39) N78I probably damaging Het
Anln T C 9: 22,249,230 (GRCm39) K166E probably damaging Het
C1qtnf4 A G 2: 90,719,877 (GRCm39) D50G probably damaging Het
Cntnap2 A G 6: 45,692,818 (GRCm39) T100A probably damaging Het
Dhx16 T C 17: 36,194,206 (GRCm39) L439P probably damaging Het
Dlk1 T C 12: 109,425,898 (GRCm39) V257A probably benign Het
Ebpl A T 14: 61,597,793 (GRCm39) L16Q probably null Het
Eml5 T A 12: 98,791,814 (GRCm39) Y1234F probably damaging Het
Gm10549 C A 18: 33,597,358 (GRCm39) probably benign Het
Gria1 A G 11: 57,200,702 (GRCm39) D793G probably benign Het
Gtse1 T C 15: 85,751,778 (GRCm39) Y324H probably benign Het
Hcn1 A T 13: 118,112,591 (GRCm39) S852C probably damaging Het
Invs A G 4: 48,307,823 (GRCm39) T83A probably damaging Het
Iqgap3 T C 3: 88,016,677 (GRCm39) L155P probably damaging Het
Lgr6 C T 1: 134,921,748 (GRCm39) A199T probably damaging Het
Lrrc14b T A 13: 74,511,759 (GRCm39) D107V probably damaging Het
Mcm9 A T 10: 53,501,825 (GRCm39) H253Q probably damaging Het
Mcmdc2 A G 1: 9,982,032 (GRCm39) Y30C probably damaging Het
Mdga1 C T 17: 30,069,525 (GRCm39) D174N probably benign Het
Med13l G A 5: 118,731,510 (GRCm39) R62H probably damaging Het
Mrgpra2b A G 7: 47,152,280 (GRCm39) probably benign Het
Nacad T A 11: 6,548,370 (GRCm39) K1426* probably null Het
Ndufb6 A G 4: 40,279,234 (GRCm39) L35S probably damaging Het
Niban2 A T 2: 32,809,581 (GRCm39) K260M probably damaging Het
Nkapl A G 13: 21,651,779 (GRCm39) I278T probably benign Het
Nrbp2 T C 15: 75,961,332 (GRCm39) E263G probably damaging Het
Nup85 T A 11: 115,471,338 (GRCm39) L110Q probably damaging Het
Or14c40 A G 7: 86,313,293 (GRCm39) N141S possibly damaging Het
Or1e35 A G 11: 73,797,721 (GRCm39) I199T probably damaging Het
Or2t6 T C 14: 14,175,314 (GRCm38) Y256C probably damaging Het
Or4a78 A T 2: 89,498,146 (GRCm39) M28K possibly damaging Het
Or5b12 T A 19: 12,897,379 (GRCm39) Q98L probably damaging Het
Or6b2b T A 1: 92,418,815 (GRCm39) I221F probably damaging Het
Polr2m C T 9: 71,390,918 (GRCm39) D95N probably benign Het
Popdc2 A T 16: 38,194,665 (GRCm39) D362V probably damaging Het
Pot1a A T 6: 25,758,855 (GRCm39) I308N possibly damaging Het
Rsf1 GCGGCGGC GCGGCGGCGTCGGCGGC 7: 97,229,135 (GRCm39) probably benign Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Rundc3a G A 11: 102,290,225 (GRCm39) E189K possibly damaging Het
Scaf1 A C 7: 44,662,230 (GRCm39) probably null Het
Scaper T C 9: 55,766,360 (GRCm39) probably null Het
Sh3glb1 C T 3: 144,418,410 (GRCm39) C51Y probably damaging Het
Slc10a5 T C 3: 10,400,391 (GRCm39) T90A probably benign Het
Slc17a3 T A 13: 24,040,449 (GRCm39) S336T probably damaging Het
Slc41a2 C A 10: 83,133,023 (GRCm39) C341F probably benign Het
Spata31 A G 13: 65,068,127 (GRCm39) *67W probably null Het
Stap2 C T 17: 56,307,475 (GRCm39) probably null Het
Stt3a A T 9: 36,663,696 (GRCm39) M182K probably benign Het
Tcfl5 G A 2: 180,284,050 (GRCm39) silent Het
Tmx3 T C 18: 90,555,225 (GRCm39) V314A probably benign Het
Upf1 A G 8: 70,791,167 (GRCm39) L525P probably damaging Het
Wdr6 T C 9: 108,452,981 (GRCm39) I301V possibly damaging Het
Ylpm1 T A 12: 85,107,025 (GRCm39) probably null Het
Zfp273 T C 13: 67,973,450 (GRCm39) Y160H probably damaging Het
Other mutations in Cxcr6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02313:Cxcr6 APN 9 123,639,770 (GRCm39) missense probably damaging 0.96
IGL03192:Cxcr6 APN 9 123,639,111 (GRCm39) missense possibly damaging 0.52
IGL03342:Cxcr6 APN 9 123,639,472 (GRCm39) nonsense probably null
PIT4362001:Cxcr6 UTSW 9 123,639,526 (GRCm39) missense probably benign 0.00
R0399:Cxcr6 UTSW 9 123,640,016 (GRCm39) missense possibly damaging 0.70
R0487:Cxcr6 UTSW 9 123,639,463 (GRCm39) missense probably benign 0.02
R1496:Cxcr6 UTSW 9 123,639,412 (GRCm39) missense probably benign 0.12
R1662:Cxcr6 UTSW 9 123,639,613 (GRCm39) missense possibly damaging 0.71
R1733:Cxcr6 UTSW 9 123,639,181 (GRCm39) missense probably damaging 1.00
R1869:Cxcr6 UTSW 9 123,639,022 (GRCm39) missense probably benign 0.37
R3055:Cxcr6 UTSW 9 123,639,529 (GRCm39) missense probably damaging 1.00
R3056:Cxcr6 UTSW 9 123,639,529 (GRCm39) missense probably damaging 1.00
R3771:Cxcr6 UTSW 9 123,639,550 (GRCm39) missense probably benign 0.02
R3828:Cxcr6 UTSW 9 123,639,934 (GRCm39) missense probably benign
R4810:Cxcr6 UTSW 9 123,639,227 (GRCm39) missense probably damaging 1.00
R5685:Cxcr6 UTSW 9 123,639,811 (GRCm39) missense probably benign 0.01
R6210:Cxcr6 UTSW 9 123,639,073 (GRCm39) missense possibly damaging 0.95
R6612:Cxcr6 UTSW 9 123,639,785 (GRCm39) missense probably damaging 1.00
R6773:Cxcr6 UTSW 9 123,639,355 (GRCm39) missense possibly damaging 0.83
R7414:Cxcr6 UTSW 9 123,639,287 (GRCm39) nonsense probably null
R7427:Cxcr6 UTSW 9 123,639,305 (GRCm39) missense probably benign 0.41
R7428:Cxcr6 UTSW 9 123,639,305 (GRCm39) missense probably benign 0.41
R7863:Cxcr6 UTSW 9 123,639,914 (GRCm39) missense probably damaging 0.98
R8426:Cxcr6 UTSW 9 123,639,071 (GRCm39) missense probably benign 0.00
R8824:Cxcr6 UTSW 9 123,640,006 (GRCm39) missense probably benign 0.08
R9645:Cxcr6 UTSW 9 123,639,151 (GRCm39) missense possibly damaging 0.78
Predicted Primers PCR Primer
(F):5'- GCTAGGAAACTCCCTGGTTCTG -3'
(R):5'- TCCTCACTGTGGTACTGACAG -3'

Sequencing Primer
(F):5'- TTCTACCAGAAGCTGAGGACTCTG -3'
(R):5'- CCTCACTGTGGTACTGACAGATAAG -3'
Posted On 2016-11-21