|Institutional Source||Beutler Lab|
|Gene Name||integrin beta 3|
|Synonyms||CD61, platelet glycoprotein IIIa (GP3A)|
|Is this an essential gene?||Probably essential (E-score: 0.897)|
|Stock #||R6361 (G1)|
|Chromosomal Location||104608000-104670476 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 104665582 bp|
|Amino Acid Change||Lysine to Glutamic Acid at position 750 (K750E)|
|Ref Sequence||ENSEMBL: ENSMUSP00000021028 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000021028]|
|Predicted Effect||possibly damaging
AA Change: K750E
PolyPhen 2 Score 0.721 (Sensitivity: 0.86; Specificity: 0.92)
AA Change: K750E
|Predicted Effect||noncoding transcript
|Coding Region Coverage||
|Validation Efficiency||98% (43/44)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The ITGB3 protein product is the integrin beta chain beta 3. Integrins are integral cell-surface proteins composed of an alpha chain and a beta chain. A given chain may combine with multiple partners resulting in different integrins. Integrin beta 3 is found along with the alpha IIb chain in platelets. Integrins are known to participate in cell adhesion as well as cell-surface mediated signalling. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted mutations exhibit platelet defects, extended bleeding times, cutaneous and gastrointestinal bleeding, anemia, increased bone mass, hypocalcemia, reduced survival, and placental defects associated with some fetal loss. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Itgb3||
(F):5'- TCATTCCTGGGAGTCTCTGG -3'
(R):5'- CTCAGTGATCAGGACATGTGGTC -3'
(F):5'- GAGTCTCTGGTGATTCCTGCTC -3'
(R):5'- TGGGAGGCCTCATAGCACATAC -3'