|Institutional Source||Beutler Lab|
|Gene Name||chemokine (C-C motif) ligand 12|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R2121 (G1)|
|Chromosomal Location||82101845-82103400 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 82101950 bp|
|Amino Acid Change||Serine to Arginine at position 17 (S17R)|
|Ref Sequence||ENSEMBL: ENSMUSP00000000194 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000000194]|
|Predicted Effect||probably damaging
AA Change: S17R
PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
AA Change: S17R
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.6467|
|Coding Region Coverage||
|Validation Efficiency||100% (66/66)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is one of several cytokine genes clustered on the q-arm of chromosome 17. 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 basophils but not for neutrophils or eosinophils. It has been implicated in the pathogenesis of diseases characterized by monocytic infiltrates, like psoriasis, rheumatoid arthritis and atherosclerosis. It binds to chemokine receptors CCR2 and CCR4. [provided by RefSeq, Jul 2013]
PHENOTYPE: Mice homozygous for a knock-out allele are viable, fertile and developmentally normal with no apparent alterations in monocyte homeostasis. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Ccl12||
(F):5'- AGCATAGTCCTGAGGCTCTTACC -3'
(R):5'- GGTGTCACGAAACATCACAGG -3'
(F):5'- ACCTCATCCTTCCTTCTGTAGG -3'
(R):5'- ATCACAGGGCCTGGACTCAG -3'