|Institutional Source||Beutler Lab|
|Gene Name||collectin sub-family member 12|
|Synonyms||CL-P1, SRCL, Scara4|
|Is this an essential gene?||Possibly non essential (E-score: 0.304)|
|Stock #||R4794 (G1)|
|Chromosomal Location||9707648-9877995 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to A at 9848984 bp (GRCm38)|
|Amino Acid Change||Asparagine to Lysine at position 387 (N387K)|
|Ref Sequence||ENSEMBL: ENSMUSP00000043220 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000040069]|
|PDB Structure||Mouse Scavenger Receptor C-type Lectin carbohydrate-recognition domain. [X-RAY DIFFRACTION]|
AA Change: N387K
PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
AA Change: N387K
|Meta Mutation Damage Score||0.6467|
|Coding Region Coverage||
|Validation Efficiency||97% (75/77)|
|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 C-lectin family, proteins that possess collagen-like sequences and carbohydrate recognition domains. This protein is a scavenger receptor, a cell surface glycoprotein that displays several functions associated with host defense. It can bind to carbohydrate antigens on microorganisms, facilitating their recognition and removal. It also mediates the recognition, internalization, and degradation of oxidatively modified low density lipoprotein by vascular endothelial cells. [provided by RefSeq, Oct 2011]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Colec12||
(F):5'- TGAAAGACCTTCAGGACTTACACAAG -3'
(R):5'- CACTTACCTTGTAGAATGGTAAAGTTC -3'
(F):5'- TTCAGGACTTACACAAGGATACAG -3'
(R):5'- AAAGTTCTTGATGAGCTGACCG -3'