|Institutional Source||Beutler Lab|
|Gene Name||chemokine (C-C motif) receptor 8|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R5116 (G1)|
|Chromosomal Location||120092114-120094906 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 120094029 bp|
|Amino Acid Change||Isoleucine to Threonine at position 70 (I70T)|
|Ref Sequence||ENSEMBL: ENSMUSP00000038473 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000048777]|
|Predicted Effect||probably benign
AA Change: I70T
PolyPhen 2 Score 0.388 (Sensitivity: 0.90; Specificity: 0.89)
AA Change: I70T
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.1296|
|Coding Region Coverage||
|Validation Efficiency||97% (59/61)|
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||
|Other mutations in Ccr8||
(F):5'- ACGTCACGATGACCGACTAC -3'
(R):5'- CCTTGATGGCATAGACAGCGTG -3'
(F):5'- GATGACCGACTACTACCCTGATTTC -3'
(R):5'- GATACCTGTCCACACTCATTAGGG -3'