Incidental Mutation 'IGL03114:Acta2'
ID419352
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? Possibly non essential (E-score: 0.257) question?
Stock #IGL03114
Quality Score
Status
Chromosome19
Chromosomal Location34241090-34255336 bp(-) (GRCm38)
Type of Mutationcritical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 34244910 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000048218 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039631] [ENSMUST00000039631] [ENSMUST00000054956] [ENSMUST00000119603]
Predicted Effect probably null
Transcript: ENSMUST00000039631
SMART Domains Protein: ENSMUSP00000048218
Gene: ENSMUSG00000035783

DomainStartEndE-ValueType
ACTIN 7 377 9.92e-237 SMART
Predicted Effect probably null
Transcript: ENSMUST00000039631
SMART Domains Protein: ENSMUSP00000048218
Gene: ENSMUSG00000035783

DomainStartEndE-ValueType
ACTIN 7 377 9.92e-237 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000054956
SMART Domains Protein: ENSMUSP00000059927
Gene: ENSMUSG00000024776

DomainStartEndE-ValueType
Pfam:USP8_dimer 19 132 3e-21 PFAM
coiled coil region 149 176 N/A INTRINSIC
JAB_MPN 268 394 4.29e-13 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000119603
SMART Domains Protein: ENSMUSP00000112938
Gene: ENSMUSG00000024776

DomainStartEndE-ValueType
Pfam:USP8_dimer 19 132 3.9e-21 PFAM
coiled coil region 149 176 N/A INTRINSIC
JAB_MPN 268 394 4.29e-13 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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930021J03Rik A T 19: 29,717,132 S1654T probably benign Het
Abca13 T A 11: 9,528,999 H4282Q probably benign Het
Arl10 A G 13: 54,575,766 probably benign Het
Avpr1a A G 10: 122,449,718 Y305C probably damaging Het
Bmpr2 T A 1: 59,867,444 N565K probably damaging Het
Boc A T 16: 44,486,752 S1035R probably benign Het
Ccdc7a T C 8: 129,026,689 N187S possibly damaging Het
Cntn5 C T 9: 9,748,452 E680K probably damaging Het
Copa T A 1: 172,119,268 Y1014* probably null Het
Csmd3 A G 15: 47,820,451 S1662P probably damaging Het
Cyp2e1 T C 7: 140,773,129 F360L possibly damaging Het
Efnb3 A T 11: 69,556,802 probably benign Het
Egf A T 3: 129,736,880 L211Q probably damaging Het
Eno1 G A 4: 150,241,126 R56H probably benign Het
Fyb2 A G 4: 104,995,778 T552A probably damaging Het
Git2 G A 5: 114,733,857 probably benign Het
Gm5538 A T 3: 59,743,723 I89F possibly damaging Het
Gm5771 T A 6: 41,397,078 C205S probably damaging Het
Gtf2ird2 A G 5: 134,216,910 probably null Het
Hyal4 A T 6: 24,755,965 I61L probably benign Het
Kat14 T C 2: 144,375,965 probably null Het
Kif13b T C 14: 64,788,448 V1418A probably benign Het
Lcn12 T C 2: 25,493,262 K35E probably benign Het
Lyrm7 G T 11: 54,850,372 N45K possibly damaging Het
Micalcl G T 7: 112,397,557 G559V probably damaging Het
Mtrr A T 13: 68,564,322 C648* probably null Het
Muc5b C A 7: 141,858,819 S1834* probably null Het
Mup16 G A 4: 61,518,013 T101M probably benign Het
Myof A T 19: 37,903,861 L1148Q probably damaging Het
Nags A T 11: 102,148,988 I501F probably damaging Het
Nbeal1 A T 1: 60,278,727 Y672F probably damaging Het
Ncapg2 A G 12: 116,452,373 probably benign Het
Obscn A G 11: 59,000,539 S7056P unknown Het
Olfr593 T C 7: 103,212,721 I287T probably damaging Het
Pde2a C A 7: 101,508,683 probably benign Het
Piezo2 T C 18: 63,030,272 probably null Het
Pkhd1 C A 1: 20,198,171 D3328Y probably damaging Het
Plxdc2 T C 2: 16,650,124 V178A probably damaging Het
Prdx3 T C 19: 60,873,118 probably benign Het
Prkce T A 17: 86,654,555 D694E probably damaging Het
Ptdss1 T A 13: 66,993,994 Y405* probably null Het
Rad54l A T 4: 116,098,532 W608R probably damaging Het
Rassf6 G T 5: 90,608,790 probably benign Het
Sema5a A T 15: 32,673,427 I804F probably damaging Het
Slc15a2 A T 16: 36,751,905 I668N probably damaging Het
Thsd7b A G 1: 130,188,551 E1347G probably benign Het
Tmco3 T C 8: 13,298,205 probably benign Het
Ttn T C 2: 76,721,652 M31214V probably null Het
Uck1 G A 2: 32,258,322 R161C probably benign Het
Ugt2b5 T C 5: 87,128,350 Y355C probably damaging Het
Usp48 C A 4: 137,656,125 T1031K probably damaging Het
Vmn1r202 G A 13: 22,501,470 T259I probably benign Het
Vmn1r202 T A 13: 22,501,330 probably benign Het
Vmn2r90 T C 17: 17,733,509 I645T probably damaging Het
Vps18 T C 2: 119,293,651 V353A possibly damaging Het
Vwf C T 6: 125,599,363 Q469* 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
IGL02136:Acta2 APN 19 34251830 missense probably damaging 1.00
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 On2016-08-02