Incidental Mutation 'IGL02558:Ccr8'
ID298389
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ccr8
Ensembl Gene ENSMUSG00000042262
Gene Namechemokine (C-C motif) receptor 8
SynonymsCmkbr8
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02558
Quality Score
Status
Chromosome9
Chromosomal Location120092114-120094906 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 120094658 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 280 (I280F)
Ref Sequence ENSEMBL: ENSMUSP00000038473 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048777]
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: 3,582,194 *25C probably null Het
Abca13 T C 11: 9,399,387 Y3654H probably damaging Het
Ankle1 T C 8: 71,408,992 F438S probably damaging Het
Atp10a A T 7: 58,819,642 R1080S probably damaging Het
Ccdc51 A T 9: 109,092,184 N380Y probably damaging Het
Cdc45 C T 16: 18,798,729 M200I probably benign Het
Cep162 G T 9: 87,225,726 T537N probably benign Het
Cep162 T C 9: 87,225,733 T535A probably benign Het
Cfap52 T C 11: 67,954,138 D35G probably benign Het
Cmip G A 8: 117,449,088 S530N probably damaging Het
Col9a3 A T 2: 180,606,806 probably null Het
Csf3r T C 4: 126,038,135 probably benign Het
Csk C T 9: 57,630,263 E123K probably benign Het
Csrnp3 G A 2: 66,022,229 E322K probably damaging Het
Ddx11 A T 17: 66,148,672 I663F probably damaging Het
Dnah1 T A 14: 31,274,379 M2667L possibly damaging Het
Foxred1 T C 9: 35,210,133 K40E probably damaging Het
Gata2 C T 6: 88,199,780 P74S probably benign Het
Gdf10 T G 14: 33,923,980 C29G probably benign Het
Hectd4 A G 5: 121,344,785 E3133G probably benign Het
Ints8 G A 4: 11,218,771 R784W probably damaging Het
Lrriq1 T C 10: 103,146,283 E1392G probably damaging Het
Muc19 T C 15: 91,897,622 noncoding transcript Het
Myom2 A T 8: 15,114,237 D1044V probably benign Het
Nphp4 G T 4: 152,555,531 R958L probably damaging Het
Nup205 C T 6: 35,189,924 P293S probably damaging Het
Olfr1130 T C 2: 87,607,559 I57T probably benign Het
Olfr23 A T 11: 73,940,825 H193L probably benign Het
Plxdc2 A G 2: 16,669,598 probably benign Het
Pwp2 T C 10: 78,179,065 S362G probably damaging Het
Siglec1 G T 2: 131,074,995 S1113R possibly damaging Het
Sirpa A G 2: 129,630,069 E472G probably damaging Het
Slc39a4 G T 15: 76,614,203 L345M probably damaging Het
Snx27 C T 3: 94,502,881 R496Q probably damaging Het
Stard9 A G 2: 120,696,907 H1215R possibly damaging Het
Stau1 A G 2: 166,950,848 Y371H probably benign Het
Sult2a1 A C 7: 13,832,595 W152G probably benign Het
Syt16 A T 12: 74,235,058 K319* probably null Het
Tcf7 T A 11: 52,253,970 probably benign Het
Tfdp1 A G 8: 13,369,546 N92D possibly damaging Het
Zfp13 C T 17: 23,576,098 A493T probably benign Het
Other mutations in Ccr8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01511:Ccr8 APN 9 120094625 missense probably damaging 1.00
IGL02966:Ccr8 APN 9 120094140 missense probably damaging 0.96
IGL03135:Ccr8 APN 9 120094623 missense possibly damaging 0.89
R0402:Ccr8 UTSW 9 120094910 unclassified probably null
R0739:Ccr8 UTSW 9 120094349 missense probably damaging 1.00
R1069:Ccr8 UTSW 9 120094217 missense probably benign 0.00
R4766:Ccr8 UTSW 9 120094464 missense probably damaging 1.00
R4934:Ccr8 UTSW 9 120094749 missense probably benign
R5116:Ccr8 UTSW 9 120094029 missense probably benign 0.39
R5942:Ccr8 UTSW 9 120094706 missense probably damaging 0.99
R5957:Ccr8 UTSW 9 120093827 missense probably damaging 0.99
R5996:Ccr8 UTSW 9 120094463 missense probably damaging 1.00
R7223:Ccr8 UTSW 9 120094617 missense probably damaging 0.99
R8037:Ccr8 UTSW 9 120094370 missense probably benign
Z1177:Ccr8 UTSW 9 120094499 missense probably benign 0.27
Posted On2015-04-16