|Institutional Source||Beutler Lab|
|Gene Name||integrin alpha 2|
|Synonyms||VLA-2 receptor, alpha 2 subunit, DX5, CD49B|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R0152 (G1)|
|Chromosomal Location||114833081-114932100 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 114866314 bp|
|Amino Acid Change||Glycine to Arginine at position 547 (G547R)|
|Ref Sequence||ENSEMBL: ENSMUSP00000053891 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000056117]|
|Predicted Effect||probably benign
AA Change: G547R
PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)
AA Change: G547R
|Meta Mutation Damage Score||0.1264|
|Coding Region Coverage||
|Validation Efficiency||87% (40/46)|
|MGI Phenotype||Strain: 2675420;2183401
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the alpha subunit of a transmembrane receptor for collagens and related proteins. The encoded protein forms a heterodimer with a beta subunit and mediates the adhesion of platelets and other cell types to the extracellular matrix. Loss of the encoded protein is associated with bleeding disorder platelet-type 9. Antibodies against this protein are found in several immune disorders, including neonatal alloimmune thrombocytopenia. This gene is located adjacent to a related alpha subunit gene. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]
PHENOTYPE: Homozygotes for targeted null mutations were viable, fertile, showed no overt anatomical defects, and exhibited no bleeding anomalies. Platelet, primary fibroblast and keratinocytes from homozygous mutant mice show less efficient adhesion to collagens in vitro. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Itga2||
(F):5'- GATTGGATGATGCGGTCTAGCTCC -3'
(R):5'- TTCCTGTTATGGAATGCTAGTGCCTTC -3'
(F):5'- CGGTCTAGCTCCAGCATTTATG -3'
(R):5'- AGAGTTTCACTGTCACGGTCC -3'