|Institutional Source||Beutler Lab|
|Gene Name||glycoprotein 9 (platelet)|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R3847 (G1)|
|Chromosomal Location||87778072-87779768 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 87779151 bp|
|Amino Acid Change||Isoleucine to Methionine at position 49 (I49M)|
|Ref Sequence||ENSEMBL: ENSMUSP00000032133 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000032133]|
|Predicted Effect||probably benign
AA Change: I49M
PolyPhen 2 Score 0.081 (Sensitivity: 0.93; Specificity: 0.85)
AA Change: I49M
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.0898|
|Coding Region Coverage||
|Validation Efficiency||100% (66/66)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a small membrane glycoprotein found on the surface of human platelets. It forms a 1-to-1 noncovalent complex with glycoprotein Ib, a platelet surface membrane glycoprotein complex that functions as a receptor for von Willebrand factor. The complete receptor complex includes noncovalent association of the alpha and beta subunits with the protein encoded by this gene and platelet glycoprotein V. Defects in this gene are a cause of Bernard-Soulier syndrome, also known as giant platelet disease. These patients have unusually large platelets and have a clinical bleeding tendency. [provided by RefSeq, Oct 2008]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Gp9||
(F):5'- TGTCCAGCATAGGTATCCTGG -3'
(R):5'- TACACATGCATTAGGGCCTCG -3'
(F):5'- GCTGACAAGCGTTAATCTCATTGC -3'
(R):5'- TCGGGCATGTGGTCCTC -3'