Incidental Mutation 'R3955:Acta2'
ID 310673
Institutional Source Beutler Lab
Gene Symbol Acta2
Ensembl Gene ENSMUSG00000035783
Gene Name actin alpha 2, smooth muscle, aorta
Synonyms Actvs, alphaSMA, SMalphaA, SMAalpha, 0610041G09Rik, a-SMA
MMRRC Submission 040832-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.227) question?
Stock # R3955 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 34218490-34232990 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) G to T at 34229126 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000048218 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039631]
AlphaFold P62737
Predicted Effect probably benign
Transcript: ENSMUST00000039631
SMART Domains Protein: ENSMUSP00000048218
Gene: ENSMUSG00000035783

DomainStartEndE-ValueType
ACTIN 7 377 9.92e-237 SMART
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.3%
Validation Efficiency 100% (56/56)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik A G 3: 137,773,834 (GRCm39) T1008A probably benign Het
Abcc5 G C 16: 20,224,293 (GRCm39) H97D probably damaging Het
Acbd7 T C 2: 3,337,250 (GRCm39) S2P probably benign Het
Adam2 G A 14: 66,295,059 (GRCm39) S262L probably damaging Het
Ajm1 G T 2: 25,467,583 (GRCm39) S776* probably null Het
Ccnq C A 11: 78,641,849 (GRCm39) E214* probably null Het
Cd69 A T 6: 129,245,343 (GRCm39) probably null Het
Cpsf3 A G 12: 21,363,806 (GRCm39) D632G probably benign Het
Dennd5a A G 7: 109,504,906 (GRCm39) M868T probably benign Het
Dscc1 T C 15: 54,946,949 (GRCm39) T259A probably benign Het
Dsg4 G A 18: 20,582,432 (GRCm39) probably null Het
Igfn1 A G 1: 135,894,918 (GRCm39) Y1883H possibly damaging Het
Insyn1 A T 9: 58,406,906 (GRCm39) D272V probably damaging Het
Krt20 G A 11: 99,323,037 (GRCm39) Q262* probably null Het
Lmf1 G A 17: 25,873,445 (GRCm39) V317M probably damaging Het
Lmod2 G T 6: 24,603,870 (GRCm39) V282L probably benign Het
Lrrc49 A G 9: 60,578,642 (GRCm39) I228T probably damaging Het
Matn1 G A 4: 130,678,726 (GRCm39) probably null Het
Nek7 C A 1: 138,462,127 (GRCm39) C79F probably damaging Het
Nmt2 A G 2: 3,313,535 (GRCm39) D132G probably benign Het
Nup210l A T 3: 90,100,361 (GRCm39) R1462S possibly damaging Het
Obscn G A 11: 58,927,594 (GRCm39) S6118F probably damaging Het
Or14j6 A T 17: 38,214,500 (GRCm39) H21L probably benign Het
Or1j21 T A 2: 36,683,565 (GRCm39) L106M probably benign Het
Or4c12 T A 2: 89,774,172 (GRCm39) M96L possibly damaging Het
Or51f1 A G 7: 102,505,824 (GRCm39) C222R probably damaging Het
Or5al1 A G 2: 85,990,282 (GRCm39) V144A probably benign Het
Plxnb3 T C X: 72,814,826 (GRCm39) V1789A probably benign Het
Ptgir A G 7: 16,640,794 (GRCm39) M29V possibly damaging Het
Qrfprl A T 6: 65,430,092 (GRCm39) I263L possibly damaging Het
Rab3gap1 A G 1: 127,862,254 (GRCm39) Q675R probably damaging Het
Rasgrf2 A G 13: 92,130,974 (GRCm39) S696P probably damaging Het
Sergef T A 7: 46,268,176 (GRCm39) E210V possibly damaging Het
Sik3 C A 9: 46,109,891 (GRCm39) N541K probably damaging Het
Slc26a1 T C 5: 108,821,448 (GRCm39) D147G possibly damaging Het
Tbc1d14 G A 5: 36,700,559 (GRCm39) R270* probably null Het
Tbc1d9 C T 8: 83,960,161 (GRCm39) T138I probably damaging Het
Tdp2 C T 13: 25,020,082 (GRCm39) T123I probably benign Het
Tec T C 5: 72,939,520 (GRCm39) probably null Het
Tmf1 C A 6: 97,153,167 (GRCm39) R302L probably damaging Het
Tnip3 A T 6: 65,574,379 (GRCm39) T137S possibly damaging Het
Trim30d C T 7: 104,121,728 (GRCm39) G339D probably damaging Het
Tspan32 T A 7: 142,560,735 (GRCm39) M61K probably damaging Het
Ttc6 T C 12: 57,744,238 (GRCm39) V1290A probably benign Het
Ttn A G 2: 76,799,593 (GRCm39) V429A possibly damaging Het
Unc13b A G 4: 43,256,834 (GRCm39) Y3962C probably damaging Het
Vmn2r95 T A 17: 18,660,358 (GRCm39) Y257N possibly damaging Het
Zfp677 A G 17: 21,618,079 (GRCm39) K379E possibly damaging Het
Zfp865 T A 7: 5,035,013 (GRCm39) D999E probably damaging Het
Other mutations in Acta2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01660:Acta2 APN 19 34,229,191 (GRCm39) missense probably damaging 0.98
IGL01802:Acta2 APN 19 34,220,836 (GRCm39) missense possibly damaging 0.91
IGL01945:Acta2 APN 19 34,229,254 (GRCm39) missense probably benign 0.03
IGL02136:Acta2 APN 19 34,229,230 (GRCm39) missense probably damaging 1.00
IGL03114:Acta2 APN 19 34,222,310 (GRCm39) critical splice donor site probably null
R0648:Acta2 UTSW 19 34,225,934 (GRCm39) missense probably benign
R1393:Acta2 UTSW 19 34,219,192 (GRCm39) missense probably damaging 1.00
R1597:Acta2 UTSW 19 34,229,983 (GRCm39) splice site probably benign
R2045:Acta2 UTSW 19 34,220,799 (GRCm39) missense probably damaging 1.00
R2338:Acta2 UTSW 19 34,225,941 (GRCm39) splice site probably benign
R3113:Acta2 UTSW 19 34,220,752 (GRCm39) missense probably benign
R3940:Acta2 UTSW 19 34,220,880 (GRCm39) missense possibly damaging 0.94
R4765:Acta2 UTSW 19 34,223,552 (GRCm39) missense probably damaging 1.00
R4826:Acta2 UTSW 19 34,229,223 (GRCm39) nonsense probably null
R6453:Acta2 UTSW 19 34,224,057 (GRCm39) missense probably damaging 1.00
R6754:Acta2 UTSW 19 34,222,383 (GRCm39) missense probably damaging 1.00
R6941:Acta2 UTSW 19 34,229,922 (GRCm39) missense probably damaging 1.00
R7311:Acta2 UTSW 19 34,219,186 (GRCm39) missense probably damaging 1.00
R7461:Acta2 UTSW 19 34,229,931 (GRCm39) missense probably benign 0.00
R7463:Acta2 UTSW 19 34,229,931 (GRCm39) missense probably benign 0.00
R7464:Acta2 UTSW 19 34,229,931 (GRCm39) missense probably benign 0.00
R7536:Acta2 UTSW 19 34,229,931 (GRCm39) missense probably benign 0.00
R7537:Acta2 UTSW 19 34,229,931 (GRCm39) missense probably benign 0.00
R7605:Acta2 UTSW 19 34,229,931 (GRCm39) missense probably benign 0.00
R7609:Acta2 UTSW 19 34,229,931 (GRCm39) missense probably benign 0.00
R7610:Acta2 UTSW 19 34,229,931 (GRCm39) missense probably benign 0.00
R7611:Acta2 UTSW 19 34,229,931 (GRCm39) missense probably benign 0.00
R7613:Acta2 UTSW 19 34,229,931 (GRCm39) missense probably benign 0.00
R7626:Acta2 UTSW 19 34,229,931 (GRCm39) missense probably benign 0.00
R7627:Acta2 UTSW 19 34,229,931 (GRCm39) missense probably benign 0.00
R7803:Acta2 UTSW 19 34,220,818 (GRCm39) missense probably benign
R7872:Acta2 UTSW 19 34,220,839 (GRCm39) missense probably damaging 0.99
R8801:Acta2 UTSW 19 34,229,207 (GRCm39) missense probably damaging 0.99
R9059:Acta2 UTSW 19 34,219,155 (GRCm39) missense possibly damaging 0.87
R9191:Acta2 UTSW 19 34,222,480 (GRCm39) missense possibly damaging 0.82
R9487:Acta2 UTSW 19 34,225,865 (GRCm39) missense probably damaging 0.99
R9675:Acta2 UTSW 19 34,223,612 (GRCm39) missense
R9776:Acta2 UTSW 19 34,223,481 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- GGGCTTGAAGAGAGACTCTATCC -3'
(R):5'- CATCAATTCACACGTTTCGGG -3'

Sequencing Primer
(F):5'- GCTTGAAGAGAGACTCTATCCTTCAG -3'
(R):5'- TTCACACGTTTCGGGAAAGC -3'
Posted On 2015-04-29