|Institutional Source||Beutler Lab|
|Gene Name||integrin alpha 2b|
|Synonyms||platelet glycoprotein IIb, GpIIb, alphaIIb, GP IIb, CD41|
|Essential gene?||Probably non essential (E-score: 0.146)|
|Stock #||R2216 (G1)|
|Chromosomal Location||102453297-102470122 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 102467866 bp (GRCm38)|
|Amino Acid Change||Asparagine to Isoleucine at position 75 (N75I)|
|Ref Sequence||ENSEMBL: ENSMUSP00000099375 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000103086]|
AA Change: N75I
PolyPhen 2 Score 0.352 (Sensitivity: 0.90; Specificity: 0.89)
AA Change: N75I
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the integrin alpha chain family of proteins. The encoded preproprotein is proteolytically processed to generate light and heavy chains that associate through disulfide linkages to form a subunit of the alpha-IIb/beta-3 integrin cell adhesion receptor. This receptor plays a crucial role in the blood coagulation system, by mediating platelet aggregation. Mutations in this gene are associated with platelet-type bleeding disorders, which are characterized by a failure of platelet aggregation, including Glanzmann thrombasthenia. [provided by RefSeq, Jan 2016]
PHENOTYPE: Homozygotes for targeted null mutations exhibit a bleeding disorder, lack platelet binding to fibrinogen, absence of fibrinogen in platelet alpha granules, and increased numbers of hematopoietic progenitors in yolk sac, fetal liver, and bone marrow. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Itga2b||
(F):5'- GGAAGCCTAGGTTTCGTGTC -3'
(R):5'- TCCACTTTCAGCTAAAATGAAGAGG -3'
(F):5'- GAAGCCTAGGTTTCGTGTCTCATC -3'
(R):5'- TCAGCTAAAATGAAGAGGTTGTCC -3'