Incidental Mutation 'IGL01511:Ccr8'
ID 89242
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ccr8
Ensembl Gene ENSMUSG00000042262
Gene Name chemokine (C-C motif) receptor 8
Synonyms Cmkbr8
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01511
Quality Score
Chromosome 9
Chromosomal Location 120092114-120094906 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to A at 120094625 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glycine to Arginine at position 269 (G269R)
Ref Sequence ENSEMBL: ENSMUSP00000038473 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048777]
AlphaFold P56484
Predicted Effect probably damaging
Transcript: ENSMUST00000048777
AA Change: G269R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000038473
Gene: ENSMUSG00000042262
AA Change: G269R

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
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. 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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 A T 11: 110,244,310 (GRCm38) D216E probably benign Het
Abcc4 C A 14: 118,599,341 (GRCm38) L669F probably benign Het
Adam29 C T 8: 55,871,421 (GRCm38) G666D probably damaging Het
Adat2 T G 10: 13,560,238 (GRCm38) M109R probably null Het
Atf3 T A 1: 191,171,496 (GRCm38) T178S probably benign Het
Birc6 T A 17: 74,627,003 (GRCm38) Y2522* probably null Het
Ces1a G T 8: 93,045,098 (GRCm38) P24T probably damaging Het
Chrna4 C T 2: 181,028,668 (GRCm38) V432I probably benign Het
Commd8 A G 5: 72,165,379 (GRCm38) V65A probably benign Het
Cyp2j13 A G 4: 96,077,315 (GRCm38) F52L possibly damaging Het
Desi1 T A 15: 82,002,588 (GRCm38) K45* probably null Het
Dmbt1 T A 7: 131,116,728 (GRCm38) M1552K possibly damaging Het
Dna2 G A 10: 62,955,314 (GRCm38) M197I possibly damaging Het
Dnah7a A C 1: 53,419,595 (GRCm38) L3795V probably damaging Het
Dnai4 T C 4: 103,048,361 (GRCm38) D741G possibly damaging Het
Fam221b T C 4: 43,660,135 (GRCm38) probably null Het
Fbxw18 A T 9: 109,688,821 (GRCm38) S366T possibly damaging Het
Fzd8 A G 18: 9,213,293 (GRCm38) Y125C unknown Het
Gcsam T C 16: 45,615,952 (GRCm38) Y11H probably damaging Het
Gucy2f G T X: 142,161,734 (GRCm38) D410E probably damaging Het
Hdac3 C T 18: 37,952,595 (GRCm38) A53T probably benign Het
Lamp2 A G X: 38,431,875 (GRCm38) L244P probably damaging Het
Lrrk1 A T 7: 66,265,450 (GRCm38) F1630Y possibly damaging Het
M1ap C A 6: 83,028,412 (GRCm38) D434E probably benign Het
Mcmbp A G 7: 128,707,164 (GRCm38) Y378H probably damaging Het
Mvb12a T A 8: 71,545,302 (GRCm38) V120E probably damaging Het
Nbeal2 A C 9: 110,629,234 (GRCm38) W2063G probably damaging Het
Neto1 A C 18: 86,395,908 (GRCm38) H9P possibly damaging Het
Nmu C T 5: 76,340,821 (GRCm38) V126M probably damaging Het
Odf2 T C 2: 29,914,309 (GRCm38) probably benign Het
Or2y15 A G 11: 49,460,216 (GRCm38) E179G probably damaging Het
Pdzrn3 T C 6: 101,153,256 (GRCm38) H533R possibly damaging Het
Pikfyve G T 1: 65,258,869 (GRCm38) E1586* probably null Het
Plcb3 C A 19: 6,955,843 (GRCm38) R970L probably damaging Het
Plxna3 A G X: 74,335,308 (GRCm38) E686G probably damaging Het
Polrmt T A 10: 79,740,151 (GRCm38) Y586F probably benign Het
Ppt1 T A 4: 122,854,425 (GRCm38) F225I probably damaging Het
Prcc T G 3: 87,872,241 (GRCm38) D162A probably damaging Het
Ripor1 T C 8: 105,619,930 (GRCm38) probably benign Het
Rnaseh1 A G 12: 28,659,009 (GRCm38) H263R probably damaging Het
Rnf19b T A 4: 129,080,418 (GRCm38) S490R probably damaging Het
Slc15a2 T A 16: 36,784,726 (GRCm38) T23S probably damaging Het
Slc17a2 T C 13: 23,819,138 (GRCm38) probably null Het
Slc35f4 T C 14: 49,298,877 (GRCm38) M434V probably benign Het
Slc52a3 C T 2: 152,004,644 (GRCm38) T175I probably benign Het
Slc5a2 C T 7: 128,270,622 (GRCm38) T409M probably benign Het
Tbc1d24 A G 17: 24,181,918 (GRCm38) S108P probably benign Het
Thnsl2 T G 6: 71,139,793 (GRCm38) Q125P probably benign Het
Ttc13 T C 8: 124,676,371 (GRCm38) D672G probably damaging Het
Ttn G T 2: 76,753,745 (GRCm38) H14013N possibly damaging Het
Unc5a T C 13: 55,004,816 (GRCm38) F792L probably damaging Het
Vac14 T C 8: 110,712,798 (GRCm38) V669A possibly damaging Het
Vmn1r13 A T 6: 57,210,329 (GRCm38) M158L probably benign Het
Vmn1r220 A T 13: 23,184,214 (GRCm38) V104D probably damaging Het
Zfp738 A T 13: 67,683,401 (GRCm38) probably null Het
Zscan5b A C 7: 6,231,422 (GRCm38) H149P probably benign Het
Other mutations in Ccr8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02558:Ccr8 APN 9 120,094,658 (GRCm38) missense probably benign 0.01
IGL02966:Ccr8 APN 9 120,094,140 (GRCm38) missense probably damaging 0.96
IGL03135:Ccr8 APN 9 120,094,623 (GRCm38) missense possibly damaging 0.89
R0402:Ccr8 UTSW 9 120,094,910 (GRCm38) splice site probably null
R0739:Ccr8 UTSW 9 120,094,349 (GRCm38) missense probably damaging 1.00
R1069:Ccr8 UTSW 9 120,094,217 (GRCm38) missense probably benign 0.00
R4766:Ccr8 UTSW 9 120,094,464 (GRCm38) missense probably damaging 1.00
R4934:Ccr8 UTSW 9 120,094,749 (GRCm38) missense probably benign
R5116:Ccr8 UTSW 9 120,094,029 (GRCm38) missense probably benign 0.39
R5942:Ccr8 UTSW 9 120,094,706 (GRCm38) missense probably damaging 0.99
R5957:Ccr8 UTSW 9 120,093,827 (GRCm38) missense probably damaging 0.99
R5996:Ccr8 UTSW 9 120,094,463 (GRCm38) missense probably damaging 1.00
R7223:Ccr8 UTSW 9 120,094,617 (GRCm38) missense probably damaging 0.99
R8037:Ccr8 UTSW 9 120,094,370 (GRCm38) missense probably benign
R8332:Ccr8 UTSW 9 120,094,374 (GRCm38) missense probably damaging 1.00
R8962:Ccr8 UTSW 9 120,094,547 (GRCm38) missense possibly damaging 0.56
R9344:Ccr8 UTSW 9 120,094,067 (GRCm38) missense probably damaging 1.00
Z1177:Ccr8 UTSW 9 120,094,499 (GRCm38) missense probably benign 0.27
Posted On 2013-12-03