Incidental Mutation 'IGL00927:Ccr6'
ID 29273
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ccr6
Ensembl Gene ENSMUSG00000040899
Gene Name C-C motif chemokine receptor 6
Synonyms Cmkbr6
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00927
Quality Score
Status
Chromosome 17
Chromosomal Location 8454875-8475973 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 8474825 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 10 (T10K)
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: T10K

PolyPhen 2 Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000095029
Gene: ENSMUSG00000040899
AA Change: T10K

DomainStartEndE-ValueType
Pfam:7tm_1 55 308 6.5e-55 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000164411
AA Change: T10K

PolyPhen 2 Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000131153
Gene: ENSMUSG00000040899
AA Change: T10K

DomainStartEndE-ValueType
Pfam:7tm_1 55 308 6.5e-55 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000166348
AA Change: T10K

PolyPhen 2 Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000128559
Gene: ENSMUSG00000040899
AA Change: T10K

DomainStartEndE-ValueType
Pfam:7tm_1 55 308 6.5e-55 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000167956
AA Change: T10K

PolyPhen 2 Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000128529
Gene: ENSMUSG00000040899
AA Change: T10K

DomainStartEndE-ValueType
Pfam:7tm_1 55 308 6.5e-55 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000177568
AA Change: T10K

PolyPhen 2 Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000137249
Gene: ENSMUSG00000040899
AA Change: T10K

DomainStartEndE-ValueType
Pfam:7tm_1 55 308 8.9e-50 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000180103
AA Change: T10K

PolyPhen 2 Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000135945
Gene: ENSMUSG00000040899
AA Change: T10K

DomainStartEndE-ValueType
Pfam:7tm_1 55 308 6.5e-55 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000231340
AA Change: T10K

PolyPhen 2 Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)
Predicted Effect probably benign
Transcript: ENSMUST00000231545
AA Change: T10K

PolyPhen 2 Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310033P09Rik A G 11: 59,099,674 (GRCm39) T92A probably damaging Het
Ankhd1 A G 18: 36,765,125 (GRCm39) S1007G probably benign Het
Cabp4 A T 19: 4,189,406 (GRCm39) S50R possibly damaging Het
Camp A T 9: 109,678,336 (GRCm39) L56Q probably damaging Het
Cblb A G 16: 51,986,461 (GRCm39) N568S probably benign Het
Chit1 T C 1: 134,072,992 (GRCm39) F106S probably damaging Het
Cyb561d1 A G 3: 108,106,943 (GRCm39) L34P probably damaging Het
Dcun1d1 A T 3: 35,975,114 (GRCm39) probably benign Het
Deup1 A G 9: 15,521,967 (GRCm39) probably benign Het
Erich1 A G 8: 14,083,518 (GRCm39) F184S probably damaging Het
Fmnl3 A G 15: 99,235,509 (GRCm39) probably null Het
Grk2 T C 19: 4,337,982 (GRCm39) N508S probably benign Het
Herc4 A G 10: 63,109,316 (GRCm39) I184V probably benign Het
Hnrnpm C A 17: 33,868,876 (GRCm39) R517L probably damaging Het
Ift56 T C 6: 38,359,155 (GRCm39) probably benign Het
Kif3b G A 2: 153,158,381 (GRCm39) A61T possibly damaging Het
Kmt2d G A 15: 98,742,890 (GRCm39) probably benign Het
Lrrc7 C A 3: 157,866,727 (GRCm39) V1005L possibly damaging Het
Lrrtm1 A T 6: 77,221,046 (GRCm39) M168L probably benign Het
Ndc1 C T 4: 107,241,977 (GRCm39) probably benign Het
Nphs1 A G 7: 30,160,164 (GRCm39) probably benign Het
Or52w1 A T 7: 105,018,454 (GRCm39) Y298F probably damaging Het
Pbld2 T C 10: 62,907,734 (GRCm39) V200A probably benign Het
Pcdhb21 A G 18: 37,647,606 (GRCm39) Y245C probably damaging Het
Pcm1 A G 8: 41,740,918 (GRCm39) T1055A probably damaging Het
Plcl2 C T 17: 50,913,948 (GRCm39) S319L probably benign Het
Plekha8 C A 6: 54,606,822 (GRCm39) Y372* probably null Het
Ralb T A 1: 119,399,506 (GRCm39) N184I probably benign Het
Robo3 C T 9: 37,339,050 (GRCm39) probably null Het
Slc41a1 T A 1: 131,766,914 (GRCm39) L144H probably damaging Het
Smg1 C T 7: 117,739,855 (GRCm39) G3364D probably damaging Het
Spmap2 A G 10: 79,412,433 (GRCm39) S329P probably damaging Het
Vmn1r123 T A 7: 20,896,216 (GRCm39) V36D possibly damaging Het
Zbtb7c T C 18: 76,278,921 (GRCm39) S460P possibly damaging Het
Zscan30 T C 18: 24,104,834 (GRCm39) noncoding transcript Het
Other mutations in Ccr6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02227:Ccr6 APN 17 8,475,284 (GRCm39) missense probably damaging 1.00
IGL02339:Ccr6 APN 17 8,475,085 (GRCm39) missense probably benign 0.01
E0374:Ccr6 UTSW 17 8,475,284 (GRCm39) missense probably damaging 1.00
R0021:Ccr6 UTSW 17 8,475,598 (GRCm39) missense possibly damaging 0.46
R0976:Ccr6 UTSW 17 8,475,254 (GRCm39) missense probably damaging 1.00
R0980:Ccr6 UTSW 17 8,474,846 (GRCm39) missense probably benign 0.00
R1141:Ccr6 UTSW 17 8,474,834 (GRCm39) missense probably damaging 1.00
R1674:Ccr6 UTSW 17 8,475,049 (GRCm39) missense probably damaging 0.99
R2117:Ccr6 UTSW 17 8,474,914 (GRCm39) missense possibly damaging 0.75
R2176:Ccr6 UTSW 17 8,475,073 (GRCm39) missense probably damaging 0.99
R4736:Ccr6 UTSW 17 8,474,896 (GRCm39) nonsense probably null
R5050:Ccr6 UTSW 17 8,474,936 (GRCm39) missense probably damaging 1.00
R5786:Ccr6 UTSW 17 8,475,244 (GRCm39) missense probably damaging 0.99
R6138:Ccr6 UTSW 17 8,475,214 (GRCm39) missense probably damaging 1.00
R6856:Ccr6 UTSW 17 8,474,881 (GRCm39) missense probably benign 0.08
R6950:Ccr6 UTSW 17 8,475,898 (GRCm39) makesense probably null
R7102:Ccr6 UTSW 17 8,475,019 (GRCm39) missense probably benign 0.15
R7206:Ccr6 UTSW 17 8,475,781 (GRCm39) missense probably benign
R7223:Ccr6 UTSW 17 8,474,972 (GRCm39) missense probably damaging 1.00
R7323:Ccr6 UTSW 17 8,475,611 (GRCm39) missense possibly damaging 0.88
R7737:Ccr6 UTSW 17 8,463,926 (GRCm39) start gained probably benign
R7974:Ccr6 UTSW 17 8,475,056 (GRCm39) missense probably damaging 1.00
R8145:Ccr6 UTSW 17 8,474,945 (GRCm39) missense probably benign 0.16
R8699:Ccr6 UTSW 17 8,475,398 (GRCm39) missense probably benign 0.20
R8738:Ccr6 UTSW 17 8,475,394 (GRCm39) missense probably damaging 0.98
R8983:Ccr6 UTSW 17 8,474,878 (GRCm39) missense probably damaging 1.00
R9242:Ccr6 UTSW 17 8,474,965 (GRCm39) missense probably benign 0.01
R9689:Ccr6 UTSW 17 8,475,821 (GRCm39) missense possibly damaging 0.87
Posted On 2013-04-17