|Institutional Source||Beutler Lab|
|Gene Name||chemokine (C-C motif) receptor 1|
|Is this an essential gene?||Probably non essential (E-score: 0.162)|
|Stock #||R1833 (G1)|
|Chromosomal Location||123962124-123968692 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 123964089 bp|
|Amino Acid Change||Isoleucine to Phenylalanine at position 135 (I135F)|
|Ref Sequence||ENSEMBL: ENSMUSP00000026911 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000026911]|
|Predicted Effect||probably damaging
AA Change: I135F
PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
AA Change: I135F
|Meta Mutation Damage Score||0.278|
|Coding Region Coverage||
|Validation Efficiency||99% (83/84)|
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. The ligands of this receptor include macrophage inflammatory protein 1 alpha (MIP-1 alpha), regulated on activation normal T expressed and secreted protein (RANTES), monocyte chemoattractant protein 3 (MCP-3), and myeloid progenitor inhibitory factor-1 (MPIF-1). Chemokines and their receptors mediated signal transduction are critical for the recruitment of effector immune cells to the site of inflammation. Knockout studies of the mouse homolog suggested the roles of this gene in host protection from inflammatory response, and susceptibility to virus and parasite. This gene and other chemokine receptor genes, including CCR2, CCRL2, CCR3, CCR5 and CCXCR1, are found to form a gene cluster on chromosome 3p. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations exhibit altered trafficking and proliferation of myeloid progenitor cells, and impairments in granulomatous inflammation of the lung and neutrophil associated host defense. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Ccr1||
(F):5'- CAGGCTCTTGTAGGGGAAATG -3'
(R):5'- TCATGCAGCATAGGAGGCTTC -3'
(F):5'- CTCTTGTAGGGGAAATGAGGGCTAC -3'
(R):5'- AGCATGACCAGCATCTACCTGTTC -3'