Incidental Mutation 'R5116:Ccr8'
ID 394202
Institutional Source Beutler Lab
Gene Symbol Ccr8
Ensembl Gene ENSMUSG00000042262
Gene Name C-C motif chemokine receptor 8
Synonyms Cmkbr8
MMRRC Submission 042704-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5116 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 119921199-119923972 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 119923095 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 70 (I70T)
Ref Sequence ENSEMBL: ENSMUSP00000038473 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048777]
AlphaFold P56484
Predicted Effect probably benign
Transcript: ENSMUST00000048777
AA Change: I70T

PolyPhen 2 Score 0.388 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000038473
Gene: ENSMUSG00000042262
AA Change: I70T

Pfam:7TM_GPCR_Srsx 44 313 2.4e-8 PFAM
Pfam:7tm_1 50 298 3.3e-44 PFAM
low complexity region 338 347 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217495
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 95.8%
  • 20x: 90.5%
Validation Efficiency 97% (59/61)
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. Chemokines and their receptors are important for the migration of various cell types into the inflammatory sites. This receptor protein preferentially expresses in the thymus. I-309, thymus activation-regulated cytokine (TARC) and macrophage inflammatory protein-1 beta (MIP-1 beta) have been identified as ligands of this receptor. Studies of this receptor and its ligands suggested its role in regulation of monocyte chemotaxis and thymic cell apoptosis. More specifically, this receptor may contribute to the proper positioning of activated T cells within the antigenic challenge sites and specialized areas of lymphoid tissues. This gene is located at the chemokine receptor gene cluster region. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for either of two independently generated knock-out alleles show normal lung eosinophilia and Th2 cytokine responses in OVA-elicited asthma models. Mice homozygous for a third knock-out allele show a delay in onset of clinical signs of experimental autoimmune encephalomyelitis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb9 T C 5: 124,216,930 (GRCm39) H429R probably damaging Het
Adam39 G T 8: 41,278,038 (GRCm39) C143F probably damaging Het
Adamts19 T C 18: 59,036,066 (GRCm39) V417A possibly damaging Het
Adcy10 C A 1: 165,347,069 (GRCm39) A362E probably damaging Het
Akap6 A G 12: 53,188,298 (GRCm39) E1904G probably benign Het
Aldh18a1 A G 19: 40,541,949 (GRCm39) M89T probably benign Het
Alyref G T 11: 120,488,554 (GRCm39) F91L probably benign Het
Capn3 G T 2: 120,315,773 (GRCm39) M248I probably benign Het
Catsper4 A T 4: 133,953,991 (GRCm39) I56N probably damaging Het
Cckbr T A 7: 105,082,862 (GRCm39) I75N probably damaging Het
Cdh24 T C 14: 54,873,870 (GRCm39) D428G probably benign Het
Cdk5rap2 G T 4: 70,225,475 (GRCm39) Q557K possibly damaging Het
Clip1 C T 5: 123,768,770 (GRCm39) A610T probably benign Het
Dnajc16 A T 4: 141,495,280 (GRCm39) Y479* probably null Het
Fpr-rs3 A G 17: 20,844,562 (GRCm39) V193A probably benign Het
Gm29125 T C 1: 80,361,690 (GRCm39) noncoding transcript Het
H1f4 A G 13: 23,806,270 (GRCm39) Y71H probably damaging Het
Ifi208 A G 1: 173,505,549 (GRCm39) probably benign Het
Immp1l G A 2: 105,795,640 (GRCm39) R155H probably benign Het
Itgad C A 7: 127,803,065 (GRCm39) T7K probably damaging Het
Itgb3 T C 11: 104,531,903 (GRCm39) V370A probably benign Het
Jak1 A G 4: 101,012,310 (GRCm39) I1053T probably benign Het
Kif21b A G 1: 136,080,521 (GRCm39) R572G probably damaging Het
Lama2 A T 10: 26,994,556 (GRCm39) D1784E probably benign Het
Ltbp2 A T 12: 84,856,511 (GRCm39) V651D probably damaging Het
Mrpl47 A G 3: 32,787,750 (GRCm39) L100S probably damaging Het
Mx1 T G 16: 97,258,679 (GRCm39) N6T possibly damaging Het
Nde1 T A 16: 14,001,351 (GRCm39) M133K probably benign Het
Nlrc5 T C 8: 95,208,488 (GRCm39) L778P probably damaging Het
Odad3 A G 9: 21,901,424 (GRCm39) *595Q probably null Het
Or52e19b G A 7: 103,033,071 (GRCm39) T46I probably benign Het
Or5l13 G A 2: 87,779,873 (GRCm39) R235C probably benign Het
Or6c3b A G 10: 129,527,266 (GRCm39) S215P probably damaging Het
Or7g32 A G 9: 19,389,094 (GRCm39) S151P possibly damaging Het
Or8b38 T C 9: 37,972,634 (GRCm39) V6A probably benign Het
Otog T C 7: 45,923,191 (GRCm39) V1022A probably benign Het
Pcdhac1 G A 18: 37,224,500 (GRCm39) V438M probably damaging Het
Pcsk5 G A 19: 17,440,798 (GRCm39) S1264F possibly damaging Het
Pfas T C 11: 68,881,816 (GRCm39) probably benign Het
Pigr T A 1: 130,776,768 (GRCm39) F648I probably benign Het
Pla2r1 A C 2: 60,279,250 (GRCm39) Y777D probably damaging Het
Pnpla7 G T 2: 24,911,982 (GRCm39) G716V probably damaging Het
Rab11fip5 C T 6: 85,325,789 (GRCm39) E206K probably damaging Het
S100a10 A G 3: 93,468,247 (GRCm39) probably null Het
Slc35f1 T C 10: 52,897,991 (GRCm39) I134T probably benign Het
Smarcd1 C T 15: 99,600,369 (GRCm39) A56V probably benign Het
Snrk A G 9: 121,989,396 (GRCm39) T247A probably benign Het
Srgap1 A G 10: 121,628,284 (GRCm39) L896P possibly damaging Het
Tmem19 A T 10: 115,179,651 (GRCm39) F167I probably benign Het
Tmprss11f T C 5: 86,687,555 (GRCm39) S118G probably benign Het
Tnc A G 4: 63,885,452 (GRCm39) probably null Het
Trem3 T C 17: 48,556,580 (GRCm39) L17P probably benign Het
Upp2 A G 2: 58,661,554 (GRCm39) Y67C probably damaging Het
Zfp276 A G 8: 123,991,716 (GRCm39) probably benign Het
Zfp932 T A 5: 110,157,242 (GRCm39) D280E probably benign Het
Other mutations in Ccr8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01511:Ccr8 APN 9 119,923,691 (GRCm39) missense probably damaging 1.00
IGL02558:Ccr8 APN 9 119,923,724 (GRCm39) missense probably benign 0.01
IGL02966:Ccr8 APN 9 119,923,206 (GRCm39) missense probably damaging 0.96
IGL03135:Ccr8 APN 9 119,923,689 (GRCm39) missense possibly damaging 0.89
R0402:Ccr8 UTSW 9 119,923,976 (GRCm39) splice site probably null
R0739:Ccr8 UTSW 9 119,923,415 (GRCm39) missense probably damaging 1.00
R1069:Ccr8 UTSW 9 119,923,283 (GRCm39) missense probably benign 0.00
R4766:Ccr8 UTSW 9 119,923,530 (GRCm39) missense probably damaging 1.00
R4934:Ccr8 UTSW 9 119,923,815 (GRCm39) missense probably benign
R5942:Ccr8 UTSW 9 119,923,772 (GRCm39) missense probably damaging 0.99
R5957:Ccr8 UTSW 9 119,922,893 (GRCm39) missense probably damaging 0.99
R5996:Ccr8 UTSW 9 119,923,529 (GRCm39) missense probably damaging 1.00
R7223:Ccr8 UTSW 9 119,923,683 (GRCm39) missense probably damaging 0.99
R8037:Ccr8 UTSW 9 119,923,436 (GRCm39) missense probably benign
R8332:Ccr8 UTSW 9 119,923,440 (GRCm39) missense probably damaging 1.00
R8962:Ccr8 UTSW 9 119,923,613 (GRCm39) missense possibly damaging 0.56
R9344:Ccr8 UTSW 9 119,923,133 (GRCm39) missense probably damaging 1.00
Z1177:Ccr8 UTSW 9 119,923,565 (GRCm39) missense probably benign 0.27
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2016-06-15