Incidental Mutation 'IGL03135:Ccr8'
ID 410492
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ccr8
Ensembl Gene ENSMUSG00000042262
Gene Name C-C motif chemokine receptor 8
Synonyms Cmkbr8
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03135
Quality Score
Chromosome 9
Chromosomal Location 119921199-119923972 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 119923689 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 268 (D268V)
Ref Sequence ENSEMBL: ENSMUSP00000038473 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048777]
AlphaFold P56484
Predicted Effect possibly damaging
Transcript: ENSMUST00000048777
AA Change: D268V

PolyPhen 2 Score 0.894 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000038473
Gene: ENSMUSG00000042262
AA Change: D268V

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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apmap A C 2: 150,429,035 (GRCm39) M196R possibly damaging Het
Arhgap27 T A 11: 103,229,891 (GRCm39) probably null Het
Arl8b A C 6: 108,795,506 (GRCm39) N148T probably benign Het
Baz1a A G 12: 54,976,375 (GRCm39) F434L probably damaging Het
Birc2 A G 9: 7,849,722 (GRCm39) probably benign Het
Brwd1 C A 16: 95,822,458 (GRCm39) R1249I probably damaging Het
Cab39l T C 14: 59,757,100 (GRCm39) F161L probably benign Het
Col25a1 A T 3: 130,323,332 (GRCm39) probably benign Het
Cpn1 A G 19: 43,974,693 (GRCm39) L12P possibly damaging Het
Dnah6 A G 6: 73,121,987 (GRCm39) I1360T probably benign Het
Dnajb8 A G 6: 88,200,013 (GRCm39) E183G probably damaging Het
Dpp8 T A 9: 64,960,322 (GRCm39) probably null Het
Fsd1 C A 17: 56,297,416 (GRCm39) probably null Het
Grina T A 15: 76,132,162 (GRCm39) F28I possibly damaging Het
H2-M3 G A 17: 37,583,324 (GRCm39) D262N possibly damaging Het
Hdgfl3 G A 7: 81,543,587 (GRCm39) T188M probably damaging Het
Kif18b A G 11: 102,805,086 (GRCm39) I353T probably damaging Het
Lrrc41 C A 4: 115,945,728 (GRCm39) R148S probably benign Het
Lrrc8e T A 8: 4,285,776 (GRCm39) L667Q probably damaging Het
Lrrk1 A G 7: 65,912,638 (GRCm39) F1641L probably benign Het
Naaladl1 A T 19: 6,162,386 (GRCm39) T443S probably benign Het
Naga C A 15: 82,214,942 (GRCm39) V339F probably damaging Het
Nedd4l A G 18: 65,338,741 (GRCm39) K702E probably damaging Het
Nwd2 T A 5: 63,963,338 (GRCm39) L974H probably damaging Het
Parp14 A G 16: 35,678,381 (GRCm39) M529T probably damaging Het
Parp8 A G 13: 117,047,478 (GRCm39) V198A probably benign Het
Pcdhb19 A T 18: 37,631,588 (GRCm39) H461L probably benign Het
Ppp6r1 T C 7: 4,645,159 (GRCm39) D236G possibly damaging Het
Psg21 T C 7: 18,388,843 (GRCm39) D83G probably benign Het
Ptpru A G 4: 131,546,111 (GRCm39) C308R probably damaging Het
Ralgds T A 2: 28,439,100 (GRCm39) S696T probably damaging Het
Rttn T A 18: 89,033,274 (GRCm39) L695Q probably damaging Het
Scel A T 14: 103,823,950 (GRCm39) I393F probably benign Het
Serpina3j T A 12: 104,281,166 (GRCm39) I113N probably damaging Het
Slc4a3 C A 1: 75,524,579 (GRCm39) probably benign Het
Slc6a11 A T 6: 114,171,570 (GRCm39) probably null Het
Slc8a3 C T 12: 81,249,023 (GRCm39) V802M probably damaging Het
Smarcal1 T A 1: 72,655,660 (GRCm39) probably null Het
Tmprss11c A G 5: 86,385,509 (GRCm39) V308A probably damaging Het
Trim10 A G 17: 37,185,113 (GRCm39) R279G possibly damaging Het
Trim30a A G 7: 104,060,348 (GRCm39) V476A probably damaging Het
Trio T C 15: 27,832,097 (GRCm39) probably benign Het
Urgcp G A 11: 5,666,091 (GRCm39) T749I possibly damaging Het
Vmn2r60 A G 7: 41,786,018 (GRCm39) I274V probably benign Het
Vps11 A G 9: 44,267,653 (GRCm39) F40L probably benign Het
Ywhab A G 2: 163,857,195 (GRCm39) I157V probably benign Het
Zfp638 G A 6: 83,919,857 (GRCm39) R485H probably damaging Het
Zfp944 A G 17: 22,558,737 (GRCm39) I170T 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
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
R5116:Ccr8 UTSW 9 119,923,095 (GRCm39) missense probably benign 0.39
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
Posted On 2016-08-02