Incidental Mutation 'R5685:Cxcr6'
ID 443295
Institutional Source Beutler Lab
Gene Symbol Cxcr6
Ensembl Gene ENSMUSG00000048521
Gene Name C-X-C motif chemokine receptor 6
Synonyms STRL33, BONZO
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5685 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 123635542-123640819 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 123639811 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 271 (T271A)
Ref Sequence ENSEMBL: ENSMUSP00000060776 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049810] [ENSMUST00000084715] [ENSMUST00000167595] [ENSMUST00000216072]
AlphaFold Q9EQ16
Predicted Effect probably benign
Transcript: ENSMUST00000049810
AA Change: T271A

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000060776
Gene: ENSMUSG00000048521
AA Change: T271A

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 benign
Transcript: ENSMUST00000216072
AA Change: T278A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Coding Region Coverage
  • 1x: 99.6%
  • 3x: 98.8%
  • 10x: 97.0%
  • 20x: 94.1%
Validation Efficiency
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700028J19Rik T A 7: 43,879,974 (GRCm39) probably benign Het
Abcb5 A T 12: 118,896,348 (GRCm39) probably null Het
Abcg1 G T 17: 31,317,260 (GRCm39) E191* probably null Het
Als2 A G 1: 59,218,250 (GRCm39) Y1263H possibly damaging Het
Amer2 T A 14: 60,617,026 (GRCm39) L281* probably null Het
Anxa6 T C 11: 54,887,196 (GRCm39) N361D probably benign Het
Ap1g1 A T 8: 110,564,415 (GRCm39) N320I probably damaging Het
Aqr T C 2: 113,986,746 (GRCm39) D208G possibly damaging Het
Arnt2 T C 7: 83,912,473 (GRCm39) T545A probably benign Het
Aspm G A 1: 139,415,026 (GRCm39) V2701I probably benign Het
Atad2 A G 15: 57,980,194 (GRCm39) V106A possibly damaging Het
Bbs2 A C 8: 94,814,061 (GRCm39) F186V probably damaging Het
Catsperg2 G A 7: 29,400,613 (GRCm39) P247L probably damaging Het
Cfap57 G T 4: 118,426,656 (GRCm39) Q1098K probably benign Het
Dock1 A G 7: 134,374,091 (GRCm39) E579G probably benign Het
Frem3 A G 8: 81,421,932 (GRCm39) T2111A probably damaging Het
Galnt1 A T 18: 24,397,586 (GRCm39) D229V possibly damaging Het
Gbp2b A C 3: 142,313,919 (GRCm39) M400L probably benign Het
Gm1123 T A 9: 98,891,486 (GRCm39) probably null Het
Gtpbp6 T C 5: 110,252,805 (GRCm39) H349R probably damaging Het
Hyal5 A G 6: 24,876,691 (GRCm39) K188R probably benign Het
Insrr T C 3: 87,707,803 (GRCm39) probably null Het
Kcnn1 A T 8: 71,305,374 (GRCm39) C322S probably damaging Het
Kdelr1 GTCTA G 7: 45,531,041 (GRCm39) probably null Het
Kif23 T C 9: 61,852,691 (GRCm39) T8A probably benign Het
Lrrk2 A T 15: 91,687,504 (GRCm39) R2198* probably null Het
Mcl1 T G 3: 95,567,109 (GRCm39) D177E possibly damaging Het
Mrps11 A T 7: 78,441,628 (GRCm39) T137S probably benign Het
Mtbp A G 15: 55,426,168 (GRCm39) Y90C probably damaging Het
Nkpd1 C T 7: 19,257,498 (GRCm39) Q276* probably null Het
Nxt1 G T 2: 148,517,673 (GRCm39) W138L possibly damaging Het
Or5al1 T C 2: 85,990,139 (GRCm39) T192A probably damaging Het
Or5h17 T A 16: 58,820,709 (GRCm39) F220L probably benign Het
Or5t17 T A 2: 86,832,621 (GRCm39) S103T probably benign Het
Osbpl7 C A 11: 96,951,103 (GRCm39) P478H probably damaging Het
Phf8-ps T A 17: 33,285,746 (GRCm39) H352L probably benign Het
Pitpna T A 11: 75,511,095 (GRCm39) F222I probably damaging Het
Plekhh2 A T 17: 84,877,310 (GRCm39) R552W probably damaging Het
Plxnb2 C T 15: 89,051,235 (GRCm39) R328H probably damaging Het
Pmaip1 C T 18: 66,594,055 (GRCm39) T65I probably benign Het
Ppil4 T G 10: 7,674,186 (GRCm39) I110S probably damaging Het
Prpf38a A G 4: 108,427,351 (GRCm39) probably null Het
Psme4 G A 11: 30,759,837 (GRCm39) G320D probably damaging Het
Rab17 C A 1: 90,886,679 (GRCm39) R191L probably benign Het
Rhag A T 17: 41,142,222 (GRCm39) M222L possibly damaging Het
Rims2 A T 15: 39,300,602 (GRCm39) H111L possibly damaging Het
Setx T C 2: 29,061,292 (GRCm39) Y2234H probably damaging Het
Slc2a8 T C 2: 32,871,801 (GRCm39) I51V possibly damaging Het
Slc34a1 T C 13: 55,549,085 (GRCm39) probably null Het
Slf1 T C 13: 77,231,598 (GRCm39) T594A possibly damaging Het
Sox6 A T 7: 115,178,392 (GRCm39) probably null Het
Spata13 C T 14: 60,928,652 (GRCm39) S70L probably benign Het
Stard13 A G 5: 150,986,592 (GRCm39) I188T possibly damaging Het
Stard9 A G 2: 120,535,803 (GRCm39) D4020G probably damaging Het
Tdp1 A G 12: 99,868,611 (GRCm39) K255R possibly damaging Het
Tns2 G T 15: 102,015,538 (GRCm39) A124S probably benign Het
Top2b T A 14: 16,413,666 (GRCm38) W1045R probably damaging Het
Trav12-2 T C 14: 53,854,122 (GRCm39) V32A probably damaging Het
Vps13c G T 9: 67,870,455 (GRCm39) R3198L possibly damaging Het
Wee1 TCCCC TCCC 7: 109,723,776 (GRCm39) probably null Het
Zfp52 T A 17: 21,782,013 (GRCm39) S620R probably benign Het
Zfp62 T A 11: 49,107,044 (GRCm39) C378* probably null Het
Zfp638 C A 6: 83,906,969 (GRCm39) P378H 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
R5748:Cxcr6 UTSW 9 123,639,406 (GRCm39) missense probably damaging 1.00
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'- CAGATGACTCTGGGGTTCTTCC -3'
(R):5'- GAACAAGTCTTGGAACTGTCCTC -3'

Sequencing Primer
(F):5'- GGGGTTCTTCCTGCCATTGC -3'
(R):5'- GTCTTGGAACTGTCCTCAGAAGAC -3'
Posted On 2016-11-09