Incidental Mutation 'R3940:Acta2'
ID 307425
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 040922-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.227) question?
Stock # R3940 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 34218490-34232990 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 34220880 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 276 (I276N)
Ref Sequence ENSEMBL: ENSMUSP00000048218 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039631] [ENSMUST00000054956] [ENSMUST00000119603]
AlphaFold P62737
Predicted Effect possibly damaging
Transcript: ENSMUST00000039631
AA Change: I276N

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000048218
Gene: ENSMUSG00000035783
AA Change: I276N

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
Meta Mutation Damage Score 0.9157 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency 95% (35/37)
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930567H17Rik C T X: 69,438,135 (GRCm39) A53T probably benign Het
Acsm3 A G 7: 119,373,109 (GRCm39) E204G probably benign Het
Ankrd16 T C 2: 11,789,192 (GRCm39) C260R probably benign Het
Ankrd42 T C 7: 92,240,996 (GRCm39) probably null Het
Atp13a2 T C 4: 140,733,733 (GRCm39) S1041P probably damaging Het
Brinp3 C A 1: 146,627,599 (GRCm39) D277E probably damaging Het
Calm5 A T 13: 3,904,485 (GRCm39) I37F possibly damaging Het
Casq1 A G 1: 172,047,103 (GRCm39) V52A possibly damaging Het
Col22a1 A T 15: 71,853,782 (GRCm39) L260* probably null Het
Cttnbp2 C A 6: 18,420,974 (GRCm39) V846L probably benign Het
Dnah12 A G 14: 26,444,754 (GRCm39) T627A probably benign Het
Eogt T C 6: 97,090,875 (GRCm39) I421M probably damaging Het
Fam135a T A 1: 24,096,556 (GRCm39) H63L probably damaging Het
Fmo3 T A 1: 162,791,555 (GRCm39) T241S probably benign Het
Frem3 T C 8: 81,341,649 (GRCm39) I1314T possibly damaging Het
Gm14393 T C 2: 174,903,420 (GRCm39) probably null Het
Kcna5 C T 6: 126,510,614 (GRCm39) V505I probably damaging Het
Kit A G 5: 75,769,978 (GRCm39) D130G probably benign Het
Neto2 G A 8: 86,400,747 (GRCm39) T16I probably damaging Het
Or7a41 T A 10: 78,871,038 (GRCm39) I136N probably damaging Het
Or8k40 T A 2: 86,584,275 (GRCm39) D269V possibly damaging Het
Pcdhb7 T C 18: 37,477,021 (GRCm39) L719P probably damaging Het
Pcdhga9 G A 18: 37,871,995 (GRCm39) R608H probably benign Het
Pik3ip1 A G 11: 3,281,987 (GRCm39) N48S probably damaging Het
Pkn2 G A 3: 142,499,672 (GRCm39) S951L probably damaging Het
Prrc2a T C 17: 35,376,474 (GRCm39) H772R possibly damaging Het
Ric1 T C 19: 29,548,162 (GRCm39) Y277H probably damaging Het
Rin2 C T 2: 145,702,366 (GRCm39) T354I probably benign Het
Rnf123 A T 9: 107,941,234 (GRCm39) probably benign Het
Robo1 T C 16: 72,806,631 (GRCm39) S1166P probably benign Het
S100a10 A G 3: 93,468,383 (GRCm39) E38G probably benign Het
Slc34a1 A T 13: 55,560,983 (GRCm39) I483F probably damaging Het
Stim1 A G 7: 102,084,848 (GRCm39) N600S probably benign Het
Ube3c T A 5: 29,824,358 (GRCm39) N517K probably benign 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
R3955:Acta2 UTSW 19 34,229,126 (GRCm39) splice site probably benign
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'- TCTAGAAATGCCCCTCCTGC -3'
(R):5'- TAGTTCATGATGCCTGCCAG -3'

Sequencing Primer
(F):5'- CCTGCTGCTTTCTGAGTCAGAG -3'
(R):5'- ATGATGCCTGCCAGCCTCAC -3'
Posted On 2015-04-17