|Institutional Source||Beutler Lab|
|Gene Name||selectin, platelet|
|Synonyms||Grmp, CD62P, P-selectin|
|Is this an essential gene?||Probably non essential (E-score: 0.155)|
|Stock #||R8196 (G1)|
|Chromosomal Location||164115264-164150026 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 164133921 bp|
|Amino Acid Change||Aspartic acid to Valine at position 401 (D401V)|
|Ref Sequence||ENSEMBL: ENSMUSP00000123924 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000162746]|
|PDB Structure||Structure of the SNX17 atypical FERM domain bound to the NPxY motif of P-selectin [X-RAY DIFFRACTION]|
|Predicted Effect||possibly damaging
AA Change: D401V
PolyPhen 2 Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)
AA Change: D401V
|Meta Mutation Damage Score||0.1712|
|Coding Region Coverage||
|Validation Efficiency||100% (43/43)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a 140 kDa protein that is stored in the alpha-granules of platelets and Weibel-Palade bodies of endothelial cells. This protein redistributes to the plasma membrane during platelet activation and degranulation and mediates the interaction of activated endothelial cells or platelets with leukocytes. The membrane protein is a calcium-dependent receptor that binds to sialylated forms of Lewis blood group carbohydrate antigens on neutrophils and monocytes. Alternative splice variants may occur but are not well documented. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations exhibit mildly attenuated inflammatory responses, increased numbers of circulating neutrophils, lack of leukocyte rolling in mesenteric venules, and increased survival after Plasmodium berghei infection. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Selp||
(F):5'- TGGACTTCCAAGTTAAACAAGCC -3'
(R):5'- ACCACCTCAGATATAGCCTTTAAG -3'
(F):5'- GATGATCATTGAACCGAGTCATCC -3'
(R):5'- AGAATATTGCCTTCAACTTACTGC -3'