|Institutional Source||Beutler Lab|
|Gene Name||integrin alpha 2b|
|Synonyms||platelet glycoprotein IIb, GpIIb, alphaIIb, GP IIb, CD41|
|Is this an essential gene?||Possibly non essential (E-score: 0.310)|
|Stock #||R7664 (G1)|
|Chromosomal Location||102453297-102470122 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 102460840 bp|
|Amino Acid Change||Leucine to Proline at position 553 (L553P)|
|Ref Sequence||ENSEMBL: ENSMUSP00000099375 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000103086]|
|Predicted Effect||probably damaging
AA Change: L553P
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: L553P
|Coding Region Coverage||
|Validation Efficiency||99% (83/84)|
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'- AATTGGGCTCAGCTTGTCCC -3'
(R):5'- ATTCCTCAGAAGCTGCGTG -3'
(F):5'- ACGGCAAGAGTCTGGCTATCTG -3'
(R):5'- TCAGAAGCTGCGTGAGTGC -3'