Incidental Mutation 'IGL02966:Ccr8'
ID 365578
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 # IGL02966
Quality Score
Chromosome 9
Chromosomal Location 120092114-120094906 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 120094140 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 107 (V107A)
Ref Sequence ENSEMBL: ENSMUSP00000038473 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048777]
AlphaFold P56484
Predicted Effect probably damaging
Transcript: ENSMUST00000048777
AA Change: V107A

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000038473
Gene: ENSMUSG00000042262
AA Change: V107A

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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930595M18Rik A T X: 81,419,711 (GRCm38) Y797N possibly damaging Het
Actbl2 G A 13: 111,255,572 (GRCm38) G147E probably damaging Het
Adam18 A T 8: 24,611,149 (GRCm38) probably benign Het
Ahcyl2 G A 6: 29,880,557 (GRCm38) V175I probably benign Het
Alox12 T A 11: 70,250,085 (GRCm38) T375S probably damaging Het
Batf2 C A 19: 6,171,789 (GRCm38) Q210K probably damaging Het
Bicd1 T C 6: 149,483,996 (GRCm38) S76P probably damaging Het
Bphl A T 13: 34,063,997 (GRCm38) H251L probably damaging Het
C130074G19Rik C A 1: 184,882,746 (GRCm38) E82D probably damaging Het
Calu A T 6: 29,356,585 (GRCm38) K39* probably null Het
Capns1 T C 7: 30,192,193 (GRCm38) D142G probably damaging Het
Cep170b G A 12: 112,736,444 (GRCm38) G447D possibly damaging Het
Chat C T 14: 32,448,946 (GRCm38) V199M probably damaging Het
Cntnap1 G T 11: 101,184,749 (GRCm38) V918L probably damaging Het
Cyp27a1 A G 1: 74,732,090 (GRCm38) T145A probably benign Het
Dgkq T A 5: 108,656,421 (GRCm38) probably null Het
Dnhd1 A G 7: 105,720,741 (GRCm38) I4458V probably benign Het
Enpp1 T A 10: 24,660,274 (GRCm38) E409D probably damaging Het
Fam78b G T 1: 167,078,888 (GRCm38) L205F probably damaging Het
Foxr2 C A X: 153,130,681 (GRCm38) R183S probably damaging Het
Ganc T C 2: 120,433,648 (GRCm38) S361P probably damaging Het
Gfra4 C A 2: 131,042,640 (GRCm38) A15S possibly damaging Het
Gm8011 A T 14: 42,466,000 (GRCm38) D145V unknown Het
Gnb4 A G 3: 32,585,223 (GRCm38) V307A probably benign Het
Hdac4 A T 1: 92,054,945 (GRCm38) V17E possibly damaging Het
Herc6 G A 6: 57,583,333 (GRCm38) probably null Het
Hivep3 A G 4: 120,132,186 (GRCm38) T1945A probably benign Het
Ica1l A T 1: 60,010,139 (GRCm38) N218K probably damaging Het
Kmt2b A T 7: 30,575,462 (GRCm38) L1939Q probably benign Het
Lrrc40 G A 3: 158,041,665 (GRCm38) probably benign Het
March8 C T 6: 116,403,538 (GRCm38) R117C probably damaging Het
Megf6 T C 4: 154,253,777 (GRCm38) S327P probably damaging Het
Mocos T G 18: 24,676,611 (GRCm38) C424G probably damaging Het
Mrpl50 A G 4: 49,521,014 (GRCm38) W14R probably benign Het
Mysm1 A T 4: 94,975,286 (GRCm38) D23E probably benign Het
Naa35 T A 13: 59,586,271 (GRCm38) D34E probably benign Het
Nid1 A G 13: 13,482,221 (GRCm38) I646V probably benign Het
Nupr1 T C 7: 126,624,901 (GRCm38) probably benign Het
Olfr1449 A T 19: 12,934,800 (GRCm38) I21F probably benign Het
Olfr171 G T 16: 19,624,301 (GRCm38) H266Q probably damaging Het
Olfr875 T G 9: 37,773,586 (GRCm38) L309R probably benign Het
Pcbp2 A C 15: 102,484,249 (GRCm38) probably benign Het
Pde8b T C 13: 95,095,648 (GRCm38) Q158R probably damaging Het
Pdzd8 T C 19: 59,300,859 (GRCm38) Y703C probably damaging Het
Plxnb3 T C X: 73,765,283 (GRCm38) S885P probably benign Het
Poc1b T A 10: 99,144,314 (GRCm38) C136S probably damaging Het
Pole2 T C 12: 69,209,875 (GRCm38) D292G probably damaging Het
Prpf39 T C 12: 65,042,779 (GRCm38) V97A probably benign Het
Rbbp8 T A 18: 11,705,812 (GRCm38) H183Q possibly damaging Het
Scn2a C T 2: 65,701,844 (GRCm38) T600M possibly damaging Het
Spata32 T C 11: 103,208,803 (GRCm38) Q292R possibly damaging Het
Sugp1 T C 8: 70,071,108 (GRCm38) probably benign Het
Sult3a1 A C 10: 33,877,273 (GRCm38) probably benign Het
Tpm3-rs7 C T 14: 113,315,378 (GRCm38) Q235* probably null Het
Trbv2 A T 6: 41,047,751 (GRCm38) T34S possibly damaging Het
Tssk6 A G 8: 69,902,885 (GRCm38) Y193C probably benign Het
Ttn T C 2: 76,708,458 (GRCm38) K34676R possibly damaging Het
Ugt3a2 T C 15: 9,370,068 (GRCm38) Y433H probably damaging Het
Wdhd1 T C 14: 47,241,644 (GRCm38) K1072E possibly damaging Het
Other mutations in Ccr8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01511:Ccr8 APN 9 120,094,625 (GRCm38) missense probably damaging 1.00
IGL02558:Ccr8 APN 9 120,094,658 (GRCm38) missense probably benign 0.01
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 2015-12-18