Incidental Mutation 'IGL02339:Ccr6'
ID 288982
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ccr6
Ensembl Gene ENSMUSG00000040899
Gene Name chemokine (C-C motif) receptor 6
Synonyms Cmkbr6
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02339
Quality Score
Status
Chromosome 17
Chromosomal Location 8236043-8257141 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 8256253 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 97 (T97S)
Ref Sequence ENSEMBL: ENSMUSP00000156324 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000097418] [ENSMUST00000164411] [ENSMUST00000166348] [ENSMUST00000167956] [ENSMUST00000177568] [ENSMUST00000180103] [ENSMUST00000231340] [ENSMUST00000231545]
AlphaFold O54689
Predicted Effect probably benign
Transcript: ENSMUST00000097418
AA Change: T97S

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000095029
Gene: ENSMUSG00000040899
AA Change: T97S

DomainStartEndE-ValueType
Pfam:7tm_1 55 308 6.5e-55 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000164411
AA Change: T97S

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000131153
Gene: ENSMUSG00000040899
AA Change: T97S

DomainStartEndE-ValueType
Pfam:7tm_1 55 308 6.5e-55 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000166348
AA Change: T97S

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000128559
Gene: ENSMUSG00000040899
AA Change: T97S

DomainStartEndE-ValueType
Pfam:7tm_1 55 308 6.5e-55 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000167956
AA Change: T97S

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000128529
Gene: ENSMUSG00000040899
AA Change: T97S

DomainStartEndE-ValueType
Pfam:7tm_1 55 308 6.5e-55 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000177568
AA Change: T97S

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000137249
Gene: ENSMUSG00000040899
AA Change: T97S

DomainStartEndE-ValueType
Pfam:7tm_1 55 308 8.9e-50 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000180103
AA Change: T97S

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000135945
Gene: ENSMUSG00000040899
AA Change: T97S

DomainStartEndE-ValueType
Pfam:7tm_1 55 308 6.5e-55 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000231340
Predicted Effect probably benign
Transcript: ENSMUST00000231545
AA Change: T97S

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232412
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the beta chemokine receptor family, which is predicted to be a seven transmembrane protein similar to G protein-coupled receptors. The gene is preferentially expressed by immature dendritic cells and memory T cells. The ligand of this receptor is macrophage inflammatory protein 3 alpha (MIP-3 alpha). This receptor has been shown to be important for B-lineage maturation and antigen-driven B-cell differentiation, and it may regulate the migration and recruitment of dentritic and T cells during inflammatory and immunological responses. Alternatively spliced transcript variants that encode the same protein have been described for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice have decreased inflammatory responses, aberrant trafficking of lymphocytes and dendritic cells, and decreased expression of many inflammatory mediators. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930402H24Rik A G 2: 130,739,465 (GRCm38) S546P probably damaging Het
Aass C A 6: 23,093,966 (GRCm38) V119F probably damaging Het
Abcg5 T C 17: 84,673,604 (GRCm38) I186V possibly damaging Het
B4gat1 G A 19: 5,039,418 (GRCm38) E148K probably benign Het
Cd209f A C 8: 4,104,483 (GRCm38) probably null Het
Chst1 T A 2: 92,613,577 (GRCm38) D131E possibly damaging Het
Dennd4a C T 9: 64,842,561 (GRCm38) R145* probably null Het
Dnah6 A G 6: 73,101,898 (GRCm38) Y2361H probably benign Het
Dpp6 C T 5: 27,652,230 (GRCm38) T333I probably damaging Het
Glt8d1 C A 14: 31,008,810 (GRCm38) T91K probably damaging Het
Gm4952 G A 19: 12,626,911 (GRCm38) R229Q probably damaging Het
Gm5117 T C 8: 31,738,226 (GRCm38) noncoding transcript Het
Gp5 T C 16: 30,309,190 (GRCm38) E222G probably damaging Het
Herc2 T A 7: 56,121,722 (GRCm38) D1077E probably benign Het
Hfe T C 13: 23,704,390 (GRCm38) E171G probably damaging Het
Hsp90b1 A G 10: 86,701,814 (GRCm38) V209A probably damaging Het
Ktn1 A T 14: 47,683,378 (GRCm38) probably benign Het
Med13 T C 11: 86,288,939 (GRCm38) I1394M probably benign Het
Meioc T G 11: 102,668,448 (GRCm38) S65R probably benign Het
Myof T C 19: 37,972,213 (GRCm38) Y460C possibly damaging Het
Olfr1276 A T 2: 111,257,243 (GRCm38) T43S probably benign Het
Pms1 A G 1: 53,275,165 (GRCm38) Y74H possibly damaging Het
Ptprn2 A C 12: 116,722,104 (GRCm38) Q61P probably damaging Het
Rab29 A G 1: 131,872,142 (GRCm38) T152A probably benign Het
Rest A G 5: 77,275,288 (GRCm38) H313R probably damaging Het
Slc9a5 T C 8: 105,358,459 (GRCm38) Y531H probably damaging Het
St3gal3 T C 4: 117,958,562 (GRCm38) T148A probably damaging Het
Stxbp5 C T 10: 9,816,297 (GRCm38) V368I possibly damaging Het
Taf1c T C 8: 119,604,280 (GRCm38) D33G probably damaging Het
Trim38 G A 13: 23,788,230 (GRCm38) R178Q probably damaging Het
Uvssa A T 5: 33,414,849 (GRCm38) K704N probably damaging Het
Vmn1r69 G A 7: 10,580,718 (GRCm38) Q29* probably null Het
Ypel2 T C 11: 86,940,603 (GRCm38) D119G possibly damaging Het
Other mutations in Ccr6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00927:Ccr6 APN 17 8,255,993 (GRCm38) missense probably benign 0.07
IGL02227:Ccr6 APN 17 8,256,452 (GRCm38) missense probably damaging 1.00
E0374:Ccr6 UTSW 17 8,256,452 (GRCm38) missense probably damaging 1.00
R0021:Ccr6 UTSW 17 8,256,766 (GRCm38) missense possibly damaging 0.46
R0976:Ccr6 UTSW 17 8,256,422 (GRCm38) missense probably damaging 1.00
R0980:Ccr6 UTSW 17 8,256,014 (GRCm38) missense probably benign 0.00
R1141:Ccr6 UTSW 17 8,256,002 (GRCm38) missense probably damaging 1.00
R1674:Ccr6 UTSW 17 8,256,217 (GRCm38) missense probably damaging 0.99
R2117:Ccr6 UTSW 17 8,256,082 (GRCm38) missense possibly damaging 0.75
R2176:Ccr6 UTSW 17 8,256,241 (GRCm38) missense probably damaging 0.99
R4736:Ccr6 UTSW 17 8,256,064 (GRCm38) nonsense probably null
R5050:Ccr6 UTSW 17 8,256,104 (GRCm38) missense probably damaging 1.00
R5786:Ccr6 UTSW 17 8,256,412 (GRCm38) missense probably damaging 0.99
R6138:Ccr6 UTSW 17 8,256,382 (GRCm38) missense probably damaging 1.00
R6856:Ccr6 UTSW 17 8,256,049 (GRCm38) missense probably benign 0.08
R6950:Ccr6 UTSW 17 8,257,066 (GRCm38) makesense probably null
R7102:Ccr6 UTSW 17 8,256,187 (GRCm38) missense probably benign 0.15
R7206:Ccr6 UTSW 17 8,256,949 (GRCm38) missense probably benign
R7223:Ccr6 UTSW 17 8,256,140 (GRCm38) missense probably damaging 1.00
R7323:Ccr6 UTSW 17 8,256,779 (GRCm38) missense possibly damaging 0.88
R7737:Ccr6 UTSW 17 8,245,094 (GRCm38) start gained probably benign
R7974:Ccr6 UTSW 17 8,256,224 (GRCm38) missense probably damaging 1.00
R8145:Ccr6 UTSW 17 8,256,113 (GRCm38) missense probably benign 0.16
R8699:Ccr6 UTSW 17 8,256,566 (GRCm38) missense probably benign 0.20
R8738:Ccr6 UTSW 17 8,256,562 (GRCm38) missense probably damaging 0.98
R8983:Ccr6 UTSW 17 8,256,046 (GRCm38) missense probably damaging 1.00
R9242:Ccr6 UTSW 17 8,256,133 (GRCm38) missense probably benign 0.01
R9689:Ccr6 UTSW 17 8,256,989 (GRCm38) missense possibly damaging 0.87
Posted On 2015-04-16