Incidental Mutation 'IGL03135:Ccr8'
ID 410492
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
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03135
Quality Score
Status
Chromosome 9
Chromosomal Location 120092114-120094906 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 120094623 bp (GRCm38)
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

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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apmap A C 2: 150,587,115 M196R possibly damaging Het
Arhgap27 T A 11: 103,339,065 probably null Het
Arl8b A C 6: 108,818,545 N148T probably benign Het
Baz1a A G 12: 54,929,590 F434L probably damaging Het
Birc3 A G 9: 7,849,721 probably benign Het
Brwd1 C A 16: 96,021,258 R1249I probably damaging Het
Cab39l T C 14: 59,519,651 F161L probably benign Het
Col25a1 A T 3: 130,529,683 probably benign Het
Cpn1 A G 19: 43,986,254 L12P possibly damaging Het
Dnah6 A G 6: 73,145,004 I1360T probably benign Het
Dnajb8 A G 6: 88,223,031 E183G probably damaging Het
Dpp8 T A 9: 65,053,040 probably null Het
Fsd1 C A 17: 55,990,416 probably null Het
Grina T A 15: 76,247,962 F28I possibly damaging Het
H2-M3 G A 17: 37,272,433 D262N possibly damaging Het
Hdgfl3 G A 7: 81,893,839 T188M probably damaging Het
Kif18b A G 11: 102,914,260 I353T probably damaging Het
Lrrc41 C A 4: 116,088,531 R148S probably benign Het
Lrrc8e T A 8: 4,235,776 L667Q probably damaging Het
Lrrk1 A G 7: 66,262,890 F1641L probably benign Het
Naaladl1 A T 19: 6,112,356 T443S probably benign Het
Naga C A 15: 82,330,741 V339F probably damaging Het
Nedd4l A G 18: 65,205,670 K702E probably damaging Het
Nwd2 T A 5: 63,805,995 L974H probably damaging Het
Parp14 A G 16: 35,858,011 M529T probably damaging Het
Parp8 A G 13: 116,910,942 V198A probably benign Het
Pcdhb19 A T 18: 37,498,535 H461L probably benign Het
Ppp6r1 T C 7: 4,642,160 D236G possibly damaging Het
Psg21 T C 7: 18,654,918 D83G probably benign Het
Ptpru A G 4: 131,818,800 C308R probably damaging Het
Ralgds T A 2: 28,549,088 S696T probably damaging Het
Rttn T A 18: 89,015,150 L695Q probably damaging Het
Scel A T 14: 103,586,514 I393F probably benign Het
Serpina3j T A 12: 104,314,907 I113N probably damaging Het
Slc4a3 C A 1: 75,547,935 probably benign Het
Slc6a11 A T 6: 114,194,609 probably null Het
Slc8a3 C T 12: 81,202,249 V802M probably damaging Het
Smarcal1 T A 1: 72,616,501 probably null Het
Tmprss11c A G 5: 86,237,650 V308A probably damaging Het
Trim10 A G 17: 36,874,221 R279G possibly damaging Het
Trim30a A G 7: 104,411,141 V476A probably damaging Het
Trio T C 15: 27,832,011 probably benign Het
Urgcp G A 11: 5,716,091 T749I possibly damaging Het
Vmn2r60 A G 7: 42,136,594 I274V probably benign Het
Vps11 A G 9: 44,356,356 F40L probably benign Het
Ywhab A G 2: 164,015,275 I157V probably benign Het
Zfp638 G A 6: 83,942,875 R485H probably damaging Het
Zfp944 A G 17: 22,339,756 I170T probably benign Het
Other mutations in Ccr8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01511:Ccr8 APN 9 120094625 missense probably damaging 1.00
IGL02558:Ccr8 APN 9 120094658 missense probably benign 0.01
IGL02966:Ccr8 APN 9 120094140 missense probably damaging 0.96
R0402:Ccr8 UTSW 9 120094910 splice site 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
R8332:Ccr8 UTSW 9 120094374 missense probably damaging 1.00
R8962:Ccr8 UTSW 9 120094547 missense possibly damaging 0.56
R9344:Ccr8 UTSW 9 120094067 missense probably damaging 1.00
Z1177:Ccr8 UTSW 9 120094499 missense probably benign 0.27
Posted On 2016-08-02