Incidental Mutation 'IGL02558:Ccr8'
ID 298389
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 # IGL02558
Quality Score
Status
Chromosome 9
Chromosomal Location 119921199-119923972 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 119923724 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 280 (I280F)
Ref Sequence ENSEMBL: ENSMUSP00000038473 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048777]
AlphaFold P56484
Predicted Effect probably benign
Transcript: ENSMUST00000048777
AA Change: I280F

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000038473
Gene: ENSMUSG00000042262
AA Change: I280F

DomainStartEndE-ValueType
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700109H08Rik A C 5: 3,632,194 (GRCm39) *25C probably null Het
Abca13 T C 11: 9,349,387 (GRCm39) Y3654H probably damaging Het
Ankle1 T C 8: 71,861,636 (GRCm39) F438S probably damaging Het
Atp10a A T 7: 58,469,390 (GRCm39) R1080S probably damaging Het
Ccdc51 A T 9: 108,921,252 (GRCm39) N380Y probably damaging Het
Cdc45 C T 16: 18,617,479 (GRCm39) M200I probably benign Het
Cep162 T C 9: 87,107,786 (GRCm39) T535A probably benign Het
Cep162 G T 9: 87,107,779 (GRCm39) T537N probably benign Het
Cfap52 T C 11: 67,844,964 (GRCm39) D35G probably benign Het
Cmip G A 8: 118,175,827 (GRCm39) S530N probably damaging Het
Col9a3 A T 2: 180,248,599 (GRCm39) probably null Het
Csf3r T C 4: 125,931,928 (GRCm39) probably benign Het
Csk C T 9: 57,537,546 (GRCm39) E123K probably benign Het
Csrnp3 G A 2: 65,852,573 (GRCm39) E322K probably damaging Het
Ddx11 A T 17: 66,455,667 (GRCm39) I663F probably damaging Het
Dnah1 T A 14: 30,996,336 (GRCm39) M2667L possibly damaging Het
Foxred1 T C 9: 35,121,429 (GRCm39) K40E probably damaging Het
Gata2 C T 6: 88,176,762 (GRCm39) P74S probably benign Het
Gdf10 T G 14: 33,645,937 (GRCm39) C29G probably benign Het
Hectd4 A G 5: 121,482,848 (GRCm39) E3133G probably benign Het
Ints8 G A 4: 11,218,771 (GRCm39) R784W probably damaging Het
Lrriq1 T C 10: 102,982,144 (GRCm39) E1392G probably damaging Het
Muc19 T C 15: 91,781,816 (GRCm39) noncoding transcript Het
Myom2 A T 8: 15,164,237 (GRCm39) D1044V probably benign Het
Nphp4 G T 4: 152,639,988 (GRCm39) R958L probably damaging Het
Nup205 C T 6: 35,166,859 (GRCm39) P293S probably damaging Het
Or10ag60 T C 2: 87,437,903 (GRCm39) I57T probably benign Het
Or1e17 A T 11: 73,831,651 (GRCm39) H193L probably benign Het
Plxdc2 A G 2: 16,674,409 (GRCm39) probably benign Het
Pwp2 T C 10: 78,014,899 (GRCm39) S362G probably damaging Het
Siglec1 G T 2: 130,916,915 (GRCm39) S1113R possibly damaging Het
Sirpa A G 2: 129,471,989 (GRCm39) E472G probably damaging Het
Slc39a4 G T 15: 76,498,403 (GRCm39) L345M probably damaging Het
Snx27 C T 3: 94,410,188 (GRCm39) R496Q probably damaging Het
Stard9 A G 2: 120,527,388 (GRCm39) H1215R possibly damaging Het
Stau1 A G 2: 166,792,768 (GRCm39) Y371H probably benign Het
Sult2a1 A C 7: 13,566,520 (GRCm39) W152G probably benign Het
Syt16 A T 12: 74,281,832 (GRCm39) K319* probably null Het
Tcf7 T A 11: 52,144,797 (GRCm39) probably benign Het
Tfdp1 A G 8: 13,419,546 (GRCm39) N92D possibly damaging Het
Zfp13 C T 17: 23,795,072 (GRCm39) A493T probably benign Het
Other mutations in Ccr8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01511:Ccr8 APN 9 119,923,691 (GRCm39) missense probably damaging 1.00
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
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 2015-04-16