Incidental Mutation 'R8699:Ccr6'
ID 668960
Institutional Source Beutler Lab
Gene Symbol Ccr6
Ensembl Gene ENSMUSG00000040899
Gene Name chemokine (C-C motif) receptor 6
Synonyms Cmkbr6
MMRRC Submission 068553-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8699 (G1)
Quality Score 225.009
Status Not validated
Chromosome 17
Chromosomal Location 8236043-8257141 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to T at 8256566 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Threonine to Methionine at position 201 (T201M)
Ref Sequence ENSEMBL: ENSMUSP00000095029 (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: T201M

PolyPhen 2 Score 0.205 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000095029
Gene: ENSMUSG00000040899
AA Change: T201M

DomainStartEndE-ValueType
Pfam:7tm_1 55 308 6.5e-55 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000164411
AA Change: T201M

PolyPhen 2 Score 0.205 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000131153
Gene: ENSMUSG00000040899
AA Change: T201M

DomainStartEndE-ValueType
Pfam:7tm_1 55 308 6.5e-55 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000166348
AA Change: T201M

PolyPhen 2 Score 0.205 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000128559
Gene: ENSMUSG00000040899
AA Change: T201M

DomainStartEndE-ValueType
Pfam:7tm_1 55 308 6.5e-55 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000167956
AA Change: T201M

PolyPhen 2 Score 0.205 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000128529
Gene: ENSMUSG00000040899
AA Change: T201M

DomainStartEndE-ValueType
Pfam:7tm_1 55 308 6.5e-55 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000177568
AA Change: T201M

PolyPhen 2 Score 0.205 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000137249
Gene: ENSMUSG00000040899
AA Change: T201M

DomainStartEndE-ValueType
Pfam:7tm_1 55 308 8.9e-50 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000180103
AA Change: T201M

PolyPhen 2 Score 0.205 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000135945
Gene: ENSMUSG00000040899
AA Change: T201M

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: T201M

PolyPhen 2 Score 0.205 (Sensitivity: 0.92; Specificity: 0.88)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110004E09Rik T C 16: 90,931,057 (GRCm38) K82E probably benign Het
4933430I17Rik T C 4: 62,532,278 (GRCm38) W30R probably damaging Het
Abca3 A G 17: 24,408,225 (GRCm38) D1555G probably benign Het
Anapc1 T C 2: 128,641,453 (GRCm38) T1241A probably damaging Het
Ano5 G A 7: 51,593,771 (GRCm38) V881I probably benign Het
Appl1 G A 14: 26,940,255 (GRCm38) S490L probably benign Het
Asxl3 A G 18: 22,434,607 (GRCm38) T81A probably benign Het
Bclaf1 T C 10: 20,333,438 (GRCm38) S754P possibly damaging Het
Bicra G T 7: 15,989,188 (GRCm38) Q135K probably benign Het
Cad T C 5: 31,076,261 (GRCm38) V1951A possibly damaging Het
Cadm3 T A 1: 173,341,116 (GRCm38) Y295F probably damaging Het
Ccnt1 A G 15: 98,565,114 (GRCm38) I59T probably damaging Het
Cd5 A G 19: 10,725,192 (GRCm38) F209S possibly damaging Het
Cep126 A C 9: 8,087,361 (GRCm38) D1017E probably damaging Het
Cntnap4 A T 8: 112,757,596 (GRCm38) D427V probably damaging Het
Col4a4 T A 1: 82,455,734 (GRCm38) N1496I unknown Het
Crybg3 A G 16: 59,554,928 (GRCm38) Y274H probably damaging Het
Cubn C A 2: 13,383,959 (GRCm38) S1479I probably damaging Het
Diras2 A T 13: 52,508,107 (GRCm38) C55S probably damaging Het
Dleu7 G A 14: 62,292,830 (GRCm38) R41C probably benign Het
Exo5 A G 4: 120,921,996 (GRCm38) I224T probably damaging Het
Fcho1 T C 8: 71,709,633 (GRCm38) I774V possibly damaging Het
Gclm T G 3: 122,266,323 (GRCm38) S251A possibly damaging Het
Gm11639 A G 11: 104,781,246 (GRCm38) T1464A probably benign Het
Gm13889 T C 2: 93,956,982 (GRCm38) Q49R unknown Het
Gm35315 T A 5: 110,080,526 (GRCm38) H18L probably benign Het
Gm9949 G A 18: 62,183,972 (GRCm38) G65R unknown Het
Gpr153 C T 4: 152,279,101 (GRCm38) probably benign Het
Gria4 T G 9: 4,424,351 (GRCm38) Y838S probably damaging Het
Gria4 C A 9: 4,424,347 (GRCm38) K839N probably damaging Het
Hrh3 A G 2: 180,101,356 (GRCm38) W160R probably damaging Het
Htr4 G A 18: 62,437,692 (GRCm38) A273T probably damaging Het
Lig3 G T 11: 82,794,550 (GRCm38) C599F probably damaging Het
Lrp1b A T 2: 41,282,195 (GRCm38) V1594E Het
Map3k10 A T 7: 27,668,355 (GRCm38) V286D probably damaging Het
Map4k4 T A 1: 39,976,750 (GRCm38) V117E unknown Het
Mdga1 C T 17: 29,842,374 (GRCm38) V548M possibly damaging Het
Mms22l A T 4: 24,507,363 (GRCm38) L248F possibly damaging Het
Ncaph T C 2: 127,121,176 (GRCm38) D379G possibly damaging Het
Neb G A 2: 52,212,551 (GRCm38) T4570M probably benign Het
Neb A G 2: 52,147,234 (GRCm38) V7064A probably benign Het
Npy5r G T 8: 66,681,622 (GRCm38) T173K probably damaging Het
Olfr1002 A T 2: 85,647,986 (GRCm38) C112S possibly damaging Het
Olfr1037 A T 2: 86,085,174 (GRCm38) I201N probably damaging Het
Olfr1442 A G 19: 12,674,882 (GRCm38) M226V probably benign Het
Olfr1447 A T 19: 12,901,464 (GRCm38) F105L possibly damaging Het
Olfr622 A T 7: 103,639,615 (GRCm38) I175N probably damaging Het
Oxsm A G 14: 16,242,631 (GRCm38) I46T possibly damaging Het
Pcdha1 A T 18: 36,931,023 (GRCm38) I247F probably benign Het
Pcdhgb6 A T 18: 37,742,922 (GRCm38) I228L probably benign Het
Peg10 T TCCA 6: 4,756,451 (GRCm38) probably benign Het
Ppp1r9a A G 6: 5,115,474 (GRCm38) S866G probably benign Het
Ppp6r3 T A 19: 3,496,587 (GRCm38) S304C probably damaging Het
Pramef6 A T 4: 143,897,192 (GRCm38) N137K probably benign Het
Ptprd A T 4: 76,041,392 (GRCm38) F279I probably benign Het
Repin1 G T 6: 48,597,345 (GRCm38) E403* probably null Het
Rest G A 5: 77,281,542 (GRCm38) G603R probably benign Het
Rgs17 A T 10: 5,918,194 (GRCm38) L9M probably benign Het
Rtp1 A G 16: 23,431,383 (GRCm38) Y166C probably damaging Het
Sec24b C A 3: 130,005,004 (GRCm38) R572I probably damaging Het
Setd1a G T 7: 127,786,602 (GRCm38) R827L possibly damaging Het
Sh3tc1 T C 5: 35,701,891 (GRCm38) Y1091C probably damaging Het
Sorbs1 G C 19: 40,376,800 (GRCm38) R180G probably benign Het
Stat4 T A 1: 52,071,937 (GRCm38) M181K probably benign Het
Stk16 A G 1: 75,212,038 (GRCm38) E67G probably benign Het
Supv3l1 A G 10: 62,432,455 (GRCm38) V537A possibly damaging Het
Tmc8 A G 11: 117,783,535 (GRCm38) E101G possibly damaging Het
Tmem106a A T 11: 101,582,294 (GRCm38) probably benign Het
Tpr T A 1: 150,418,021 (GRCm38) I922N probably damaging Het
Uaca G T 9: 60,871,065 (GRCm38) L911F probably damaging Het
Ubn1 A T 16: 5,063,703 (GRCm38) I200L possibly damaging Het
Ush2a A G 1: 188,911,377 (GRCm38) D4312G probably damaging Het
Virma A T 4: 11,528,678 (GRCm38) Y1255F probably benign Het
Vmn1r170 C T 7: 23,606,655 (GRCm38) Q161* probably null Het
Vmn1r175 G T 7: 23,808,809 (GRCm38) A131D probably benign Het
Vmn1r52 T A 6: 90,178,760 (GRCm38) N15K probably benign Het
Wdr46 T A 17: 33,948,852 (GRCm38) I513N probably damaging Het
Wdr60 T C 12: 116,207,701 (GRCm38) T972A probably benign Het
Zfp788 A G 7: 41,648,416 (GRCm38) N159D probably benign 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
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
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'- AGCATGGACCGGTACATTGC -3'
(R):5'- ACCATGTTGTGAGGGATCTGAC -3'

Sequencing Primer
(F):5'- GTACATTGCCATCGTCCAGG -3'
(R):5'- TTGTGAGGGATCTGACAAGCC -3'
Posted On 2021-04-30