|Institutional Source||Beutler Lab|
|Gene Name||selectin, endothelial cell|
|Synonyms||CD62E, E-selectin, Elam|
|Is this an essential gene?||Probably non essential (E-score: 0.080)|
|Stock #||R1295 (G1)|
|Chromosomal Location||164048234-164057677 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 164050810 bp|
|Amino Acid Change||Serine to Arginine at position 239 (S239R)|
|Ref Sequence||ENSEMBL: ENSMUSP00000027874 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000027874]|
|Predicted Effect||probably damaging
AA Change: S239R
PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
AA Change: S239R
|Meta Mutation Damage Score||0.5224|
|Coding Region Coverage||
|Validation Efficiency||98% (81/83)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is found in cytokine-stimulated endothelial cells and is thought to be responsible for the accumulation of blood leukocytes at sites of inflammation by mediating the adhesion of cells to the vascular lining. It exhibits structural features such as the presence of lectin- and EGF-like domains followed by short consensus repeat (SCR) domains that contain 6 conserved cysteine residues. These proteins are part of the selectin family of cell adhesion molecules. Adhesion molecules participate in the interaction between leukocytes and the endothelium and appear to be involved in the pathogenesis of atherosclerosis. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations exhibit mild defects in neutrophil infiltration during inflammatory responses. When combined with other selectin gene knockouts, more severe defects are present. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Sele||
(F):5'- AGGAACACCCTGACTATGGAAGCC -3'
(R):5'- TTGCCGTGCAAAGAGAAGCTCC -3'
(F):5'- TATGGAAGCCTGAACTGCTC -3'
(R):5'- CTCAACAAGGTCCTATTGCATGG -3'