|Institutional Source||Beutler Lab|
|Gene Name||chemokine (C-C motif) ligand 2|
|Synonyms||Sigje, SMC-CF, monocyte chemoattractant protein-1, MCP1, MCP-1, monocyte chemotactic protein, Scya2, HC11, MCAF|
|Is this an essential gene?||Probably non essential (E-score: 0.133)|
|Stock #||R5049 (G1)|
|Chromosomal Location||82035571-82037453 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to T at 82036507 bp|
|Amino Acid Change||Cysteine to Phenylalanine at position 34 (C34F)|
|Ref Sequence||ENSEMBL: ENSMUSP00000000193 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000000193] [ENSMUST00000171515]|
|Predicted Effect||probably damaging
AA Change: C34F
PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
AA Change: C34F
|Predicted Effect||noncoding transcript
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.9479|
|Coding Region Coverage||
|Validation Efficiency||97% (89/92)|
FUNCTION: This gene is one of several cytokine genes clustered on chromosome 11. Chemokines are a superfamily of secreted proteins involved in immunoregulatory and inflammatory processes. The superfamily is divided into four subfamilies based on the arrangement of N-terminal cysteine residues of the mature peptide. This chemokine is a member of the CC subfamily which is characterized by two adjacent cysteine residues. This cytokine displays chemotactic activity for monocytes and memory T cells but not for neutrophils. The human ortholog has been implicated in the pathogenesis of diseases characterized by monocytic infiltrates, such as psoriasis, rheumatoid arthritis, and atherosclerosis. [provided by RefSeq, Sep 2015]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit defective macrophage recruitment, abnormal choroid morphology, photoreceptor degeneration, and altered response to injury, infection, alcohol, and a high fat diet. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Ccl2||
(F):5'- CTGTGAGCCTACTTTAAGCTGC -3'
(R):5'- CCCCATTGGATCTGAGTGTG -3'
(F):5'- GCTGCAAATAACTGAGTCTGTTGTC -3'
(R):5'- ATCTGAGTGTGTGACTGACTATAAG -3'