|Institutional Source||Beutler Lab|
|Gene Name||collectin sub-family member 12|
|Synonyms||CL-P1, SRCL, Scara4|
|Is this an essential gene?||Possibly essential (E-score: 0.730)|
|Stock #||R5269 (G1)|
|Chromosomal Location||9707648-9877995 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 9846825 bp|
|Amino Acid Change||Threonine to Alanine at position 74 (T74A)|
|Ref Sequence||ENSEMBL: ENSMUSP00000043220 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000040069]|
|Predicted Effect||possibly damaging
AA Change: T74A
PolyPhen 2 Score 0.669 (Sensitivity: 0.86; Specificity: 0.91)
AA Change: T74A
|Meta Mutation Damage Score||0.092|
|Coding Region Coverage||
|Validation Efficiency||100% (71/71)|
|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'- TTGCTAAAGAACAGCTTCCTCC -3'
(R):5'- CCTGTTCAGTCAAGAGTGGGAAG -3'
(F):5'- AGAACAGCTTCCTCCATATTTGATC -3'
(R):5'- CAAGGAAAGATTGTAGCACGC -3'