Incidental Mutation 'R5786:Ccr6'
ID 448051
Institutional Source Beutler Lab
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 # R5786 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 8236043-8257141 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 8256412 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 150 (S150P)
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 damaging
Transcript: ENSMUST00000097418
AA Change: S150P

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000095029
Gene: ENSMUSG00000040899
AA Change: S150P

DomainStartEndE-ValueType
Pfam:7tm_1 55 308 6.5e-55 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000164411
AA Change: S150P

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000131153
Gene: ENSMUSG00000040899
AA Change: S150P

DomainStartEndE-ValueType
Pfam:7tm_1 55 308 6.5e-55 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000166348
AA Change: S150P

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000128559
Gene: ENSMUSG00000040899
AA Change: S150P

DomainStartEndE-ValueType
Pfam:7tm_1 55 308 6.5e-55 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000167956
AA Change: S150P

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000128529
Gene: ENSMUSG00000040899
AA Change: S150P

DomainStartEndE-ValueType
Pfam:7tm_1 55 308 6.5e-55 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000177568
AA Change: S150P

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000137249
Gene: ENSMUSG00000040899
AA Change: S150P

DomainStartEndE-ValueType
Pfam:7tm_1 55 308 8.9e-50 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000180103
AA Change: S150P

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000135945
Gene: ENSMUSG00000040899
AA Change: S150P

DomainStartEndE-ValueType
Pfam:7tm_1 55 308 6.5e-55 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000231340
Predicted Effect probably damaging
Transcript: ENSMUST00000231545
AA Change: S150P

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232412
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 95.9%
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810009J06Rik T A 6: 40,968,188 (GRCm38) D200E probably damaging Het
4930578I06Rik C A 14: 63,973,242 (GRCm38) R179L probably damaging Het
Abhd5 A G 9: 122,363,803 (GRCm38) probably null Het
Ankrd60 TGGCCACGCGG TGG 2: 173,578,089 (GRCm38) probably null Het
Ano5 G A 7: 51,566,318 (GRCm38) D348N possibly damaging Het
Apob C T 12: 8,015,304 (GRCm38) T4091I possibly damaging Het
Avil G A 10: 127,016,499 (GRCm38) probably null Het
C530008M17Rik T C 5: 76,866,196 (GRCm38) probably null Het
Cacna1a T C 8: 84,415,721 (GRCm38) probably benign Het
Capn7 T C 14: 31,360,145 (GRCm38) L436P probably damaging Het
Ccdc33 A G 9: 58,029,952 (GRCm38) S655P possibly damaging Het
Cd1d1 T C 3: 86,998,788 (GRCm38) N60S probably benign Het
Ckap5 A G 2: 91,616,296 (GRCm38) probably null Het
Col15a1 A G 4: 47,280,865 (GRCm38) E753G possibly damaging Het
Col1a2 C T 6: 4,530,223 (GRCm38) R699W unknown Het
Csf2rb T C 15: 78,348,955 (GRCm38) Y821H probably damaging Het
Cyp3a11 A G 5: 145,862,474 (GRCm38) I301T possibly damaging Het
Dpp3 C T 19: 4,918,322 (GRCm38) G241R possibly damaging Het
Dpyd G T 3: 119,427,237 (GRCm38) M952I probably damaging Het
Dsg3 A T 18: 20,521,571 (GRCm38) I111L possibly damaging Het
Ect2 A G 3: 27,146,953 (GRCm38) F123L probably damaging Het
Ehmt2 G C 17: 34,910,743 (GRCm38) D961H probably damaging Het
Esp1 A G 17: 40,730,918 (GRCm38) I34V probably benign Het
Fam171b G A 2: 83,878,236 (GRCm38) V361I probably benign Het
Flnc T A 6: 29,459,537 (GRCm38) Y2545* probably null Het
Fmo4 C T 1: 162,803,717 (GRCm38) G227D probably benign Het
Grn C T 11: 102,434,043 (GRCm38) Q153* probably null Het
H2-DMb1 T G 17: 34,153,434 (GRCm38) S12R possibly damaging Het
Ica1 G T 6: 8,672,391 (GRCm38) N203K possibly damaging Het
Kdm4c C A 4: 74,359,485 (GRCm38) T792K probably damaging Het
Kif19a T A 11: 114,779,223 (GRCm38) Y81* probably null Het
Kifc2 G T 15: 76,664,378 (GRCm38) C440F probably damaging Het
Lpin2 A G 17: 71,230,273 (GRCm38) T234A probably benign Het
Lysmd2 C A 9: 75,635,603 (GRCm38) P164Q probably benign Het
Maea T A 5: 33,368,683 (GRCm38) D234E probably benign Het
Map4k1 T A 7: 29,000,020 (GRCm38) V572E probably damaging Het
Med6 C T 12: 81,573,959 (GRCm38) G166R probably null Het
Mtmr10 T C 7: 64,337,710 (GRCm38) I666T probably damaging Het
Myh14 T A 7: 44,613,463 (GRCm38) K1777M probably benign Het
Naip6 G T 13: 100,300,216 (GRCm38) Q600K probably benign Het
Obscn A G 11: 59,032,691 (GRCm38) S6461P probably damaging Het
Olfr350 T C 2: 36,850,049 (GRCm38) M1T probably null Het
Osbpl7 T A 11: 97,065,832 (GRCm38) V567E probably damaging Het
Rad51ap2 A T 12: 11,456,920 (GRCm38) D281V probably damaging Het
Rnd2 C T 11: 101,468,999 (GRCm38) L57F probably damaging Het
Rpl24 C A 16: 55,967,153 (GRCm38) H59N possibly damaging Het
Rtl1 G A 12: 109,592,619 (GRCm38) L929F possibly damaging Het
Runx3 C T 4: 135,163,264 (GRCm38) T159I probably damaging Het
Serpine2 T C 1: 79,816,920 (GRCm38) I99V probably benign Het
Slc12a6 C A 2: 112,284,722 (GRCm38) P12Q probably benign Het
Slc25a18 T C 6: 120,792,074 (GRCm38) L184P probably damaging Het
Smg1 T C 7: 118,212,897 (GRCm38) D57G probably benign Het
Spdye4c T A 2: 128,596,841 (GRCm38) *340K probably null Het
Srsf5 G A 12: 80,949,537 (GRCm38) E162K possibly damaging Het
Ssc5d T C 7: 4,936,818 (GRCm38) V751A probably benign Het
Tcf3 T C 10: 80,419,499 (GRCm38) N157S probably benign Het
Tdrd7 T C 4: 45,989,082 (GRCm38) V71A probably benign Het
Tex14 T C 11: 87,514,295 (GRCm38) C678R probably damaging Het
Tgm3 A T 2: 130,026,784 (GRCm38) K214* probably null Het
Vps53 A G 11: 76,063,007 (GRCm38) I659T probably benign Het
Zfp597 A T 16: 3,866,159 (GRCm38) C244* probably null Het
Zfp933 T A 4: 147,828,407 (GRCm38) probably null 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
IGL02339:Ccr6 APN 17 8,256,253 (GRCm38) missense probably benign 0.01
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
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
Predicted Primers PCR Primer
(F):5'- TCTGGGCAGTTACTCATGCC -3'
(R):5'- CCTGCACCAAGGTCTTGATAATG -3'

Sequencing Primer
(F):5'- GTTACTCATGCCACCAACACTTG -3'
(R):5'- TGCACCAAGGTCTTGATAATGAACAG -3'
Posted On 2016-12-15