|Institutional Source||Beutler Lab|
|Gene Name||actin, alpha 2, smooth muscle, aorta|
|Synonyms||alphaSMA, SMalphaA, 0610041G09Rik, Actvs, a-SMA|
|Is this an essential gene?||Possibly non essential (E-score: 0.276)|
|Stock #||R7613 (G1)|
|Chromosomal Location||34241090-34255336 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to A at 34252531 bp|
|Amino Acid Change||Threonine to Isoleucine at position 8 (T8I)|
|Ref Sequence||ENSEMBL: ENSMUSP00000048218 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000039631]|
|Predicted Effect||probably benign
AA Change: T8I
PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
AA Change: T8I
|Meta Mutation Damage Score||0.1032|
|Coding Region Coverage||
|Validation Efficiency||100% (52/52)|
FUNCTION: The protein encoded by this gene belongs to the actin family of proteins, which are highly conserved proteins that play a role in cell motility, structure and integrity. Alpha, beta and gamma actin isoforms have been identified, with alpha actins being a major constituent of the contractile apparatus, while beta and gamma actins are involved in the regulation of cell motility. This actin is an alpha actin that is found in skeletal muscle. [provided by RefSeq, Sep 2015]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired vascular contractility and blood pressure homeostasis, increased blood-retina barrier permeability, and reduced retinal cone and rod function. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Acta2||
(F):5'- AGACACAGAGGGATCTAGCC -3'
(R):5'- TTTCGGATCATCAAAGGCTTTACAG -3'
(F):5'- AGGGATCTAGCCTAAAGTCTTGTCC -3'
(R):5'- GCTTTACAGCCTAGTGAAAGC -3'