Incidental Mutation 'IGL02136:Acta2'
ID281316
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Acta2
Ensembl Gene ENSMUSG00000035783
Gene Nameactin, alpha 2, smooth muscle, aorta
SynonymsalphaSMA, SMalphaA, 0610041G09Rik, Actvs, a-SMA
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.179) question?
Stock #IGL02136
Quality Score
Status
Chromosome19
Chromosomal Location34241090-34255336 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 34251830 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Valine at position 53 (D53V)
Ref Sequence ENSEMBL: ENSMUSP00000048218 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039631]
Predicted Effect probably damaging
Transcript: ENSMUST00000039631
AA Change: D53V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000048218
Gene: ENSMUSG00000035783
AA Change: D53V

DomainStartEndE-ValueType
ACTIN 7 377 9.92e-237 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype 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
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 G T 1: 71,247,142 T2511K probably damaging Het
Banf1 G A 19: 5,365,070 A71V probably benign Het
Cacng5 A T 11: 107,881,731 I97N probably benign Het
Clec14a T A 12: 58,268,629 E69V probably damaging Het
Cracr2a T C 6: 127,629,930 probably benign Het
Dysf A G 6: 84,108,167 R845G probably benign Het
Dzip3 T C 16: 48,927,582 N949S possibly damaging Het
Eprs T G 1: 185,384,983 W408G probably damaging Het
Fgf14 G A 14: 123,980,372 P240S possibly damaging Het
Fpgt G T 3: 155,093,352 A2E probably benign Het
Galntl5 T A 5: 25,220,062 S392R probably benign Het
Gatd1 A G 7: 141,408,960 *221Q probably null Het
Gcsam T A 16: 45,610,533 M1K probably null Het
Ksr2 A G 5: 117,616,894 N351S possibly damaging Het
Map1a T C 2: 121,300,212 V503A probably damaging Het
Myl12a T A 17: 70,996,856 K9* probably null Het
Ncapg2 A T 12: 116,460,583 M1129L probably benign Het
Olfr228 T C 2: 86,483,465 I92M probably damaging Het
Olfr744 T C 14: 50,618,251 S10P possibly damaging Het
Otof T C 5: 30,373,992 K1691E possibly damaging Het
Pdk4 A T 6: 5,486,715 M353K probably damaging Het
Pkhd1 A T 1: 20,275,615 W2730R probably damaging Het
Pkn2 T A 3: 142,853,590 K58I probably damaging Het
Plk5 T C 10: 80,363,167 probably null Het
Prkcq T C 2: 11,260,668 F399L probably benign Het
Ptprz1 G A 6: 22,972,822 V244M probably damaging Het
Rpusd2 T C 2: 119,038,178 F361L probably damaging Het
Rttn T A 18: 89,046,128 L1168I possibly damaging Het
S100a9 T C 3: 90,692,768 H107R probably benign Het
Serpinb3a T A 1: 107,046,285 M299L probably benign Het
Slfn8 G A 11: 83,003,465 Q783* probably null Het
Smc3 T C 19: 53,635,716 I721T probably benign Het
Top2b C A 14: 16,407,103 probably benign Het
Uvssa T A 5: 33,391,848 W351R probably damaging Het
Vmn2r107 G T 17: 20,374,906 V574L probably benign Het
Wdr3 G A 3: 100,138,725 R931* probably null Het
Other mutations in Acta2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01660:Acta2 APN 19 34251791 missense probably damaging 0.98
IGL01802:Acta2 APN 19 34243436 missense possibly damaging 0.91
IGL01945:Acta2 APN 19 34251854 missense probably benign 0.03
IGL03114:Acta2 APN 19 34244910 critical splice donor site probably null
R0648:Acta2 UTSW 19 34248534 missense probably benign
R1393:Acta2 UTSW 19 34241792 missense probably damaging 1.00
R1597:Acta2 UTSW 19 34252583 splice site probably benign
R2045:Acta2 UTSW 19 34243399 missense probably damaging 1.00
R2338:Acta2 UTSW 19 34248541 splice site probably benign
R3113:Acta2 UTSW 19 34243352 missense probably benign
R3940:Acta2 UTSW 19 34243480 missense possibly damaging 0.94
R3955:Acta2 UTSW 19 34251726 splice site probably benign
R4765:Acta2 UTSW 19 34246152 missense probably damaging 1.00
R4826:Acta2 UTSW 19 34251823 nonsense probably null
R6453:Acta2 UTSW 19 34246657 missense probably damaging 1.00
R6754:Acta2 UTSW 19 34244983 missense probably damaging 1.00
R6941:Acta2 UTSW 19 34252522 missense probably damaging 1.00
R7311:Acta2 UTSW 19 34241786 missense probably damaging 1.00
R7461:Acta2 UTSW 19 34252531 missense probably benign 0.00
R7463:Acta2 UTSW 19 34252531 missense probably benign 0.00
R7464:Acta2 UTSW 19 34252531 missense probably benign 0.00
R7536:Acta2 UTSW 19 34252531 missense probably benign 0.00
R7537:Acta2 UTSW 19 34252531 missense probably benign 0.00
R7605:Acta2 UTSW 19 34252531 missense probably benign 0.00
R7609:Acta2 UTSW 19 34252531 missense probably benign 0.00
R7610:Acta2 UTSW 19 34252531 missense probably benign 0.00
R7611:Acta2 UTSW 19 34252531 missense probably benign 0.00
R7613:Acta2 UTSW 19 34252531 missense probably benign 0.00
R7626:Acta2 UTSW 19 34252531 missense probably benign 0.00
R7627:Acta2 UTSW 19 34252531 missense probably benign 0.00
R7803:Acta2 UTSW 19 34243418 missense probably benign
R7872:Acta2 UTSW 19 34243439 missense probably damaging 0.99
Posted On2015-04-16