Incidental Mutation 'R6941:Acta2'
ID 540578
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 045055-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.227) question?
Stock # R6941 (G1)
Quality Score 192.009
Status Not validated
Chromosome 19
Chromosomal Location 34218490-34232990 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 34229922 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 11 (V11E)
Ref Sequence ENSEMBL: ENSMUSP00000048218 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039631]
AlphaFold P62737
Predicted Effect probably damaging
Transcript: ENSMUST00000039631
AA Change: V11E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000048218
Gene: ENSMUSG00000035783
AA Change: V11E

DomainStartEndE-ValueType
ACTIN 7 377 9.92e-237 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.1%
  • 20x: 97.0%
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 A T 7: 120,140,370 (GRCm39) I1557F probably damaging Het
Acad10 A T 5: 121,787,420 (GRCm39) D176E probably damaging Het
Ampd2 T C 3: 107,986,609 (GRCm39) H225R probably damaging Het
Arfgef3 A G 10: 18,501,203 (GRCm39) Y1016H possibly damaging Het
Atg7 C T 6: 114,650,639 (GRCm39) T83M possibly damaging Het
AU018091 A G 7: 3,209,267 (GRCm39) probably null Het
Birc2 A G 9: 7,819,469 (GRCm39) V481A probably benign Het
Cabp1 A T 5: 115,310,960 (GRCm39) D295E probably damaging Het
Cd180 A T 13: 102,842,699 (GRCm39) T582S probably benign Het
Cnksr3 A G 10: 7,076,758 (GRCm39) S145P probably damaging Het
Ddx27 A G 2: 166,857,297 (GRCm39) D15G possibly damaging Het
Dsc1 T C 18: 20,230,246 (GRCm39) Y353C probably benign Het
Dsg1c C T 18: 20,400,980 (GRCm39) T161I probably damaging Het
Epm2a A G 10: 11,266,829 (GRCm39) probably null Het
Fat2 T C 11: 55,152,914 (GRCm39) H3766R probably benign Het
Fjx1 A G 2: 102,280,903 (GRCm39) V344A probably benign Het
Frmd3 A G 4: 74,016,363 (GRCm39) I93V probably benign Het
Gbe1 TAGTAAGAGT TAGT 16: 70,230,444 (GRCm39) probably benign Het
Gdf15 A G 8: 71,082,794 (GRCm39) L104P possibly damaging Het
Glra3 G A 8: 56,393,961 (GRCm39) R24Q probably benign Het
Gvin2 G A 7: 105,551,187 (GRCm39) Q622* probably null Het
Ighv1-9 A T 12: 114,547,448 (GRCm39) M31K probably benign Het
Ipmk G A 10: 71,183,920 (GRCm39) G47S probably null Het
Itsn2 T C 12: 4,679,641 (GRCm39) I150T probably benign Het
Kcnq5 T C 1: 21,476,068 (GRCm39) Y545C probably damaging Het
Klk1b8 C A 7: 43,602,213 (GRCm39) H48Q possibly damaging Het
Lrit1 G C 14: 36,782,052 (GRCm39) V242L probably damaging Het
Lrrc34 T C 3: 30,678,969 (GRCm39) Y376C probably benign Het
Mast4 A T 13: 102,941,222 (GRCm39) D278E probably damaging Het
Mtmr3 T C 11: 4,437,505 (GRCm39) Y982C possibly damaging Het
Ndst4 T G 3: 125,403,160 (GRCm39) H422Q possibly damaging Het
Nek7 T C 1: 138,430,376 (GRCm39) E206G probably damaging Het
Nufip2 CCAGCAGCAGCAGCAGCAGCAG CCAGCAGCAGCAGCAGCAG 11: 77,577,122 (GRCm39) probably benign Het
Or5b99 T A 19: 12,976,861 (GRCm39) N170K possibly damaging Het
Pglyrp2 T C 17: 32,635,048 (GRCm39) Y438C probably damaging Het
Pigr G T 1: 130,775,064 (GRCm39) W497L probably damaging Het
Pkd2l2 G T 18: 34,549,936 (GRCm39) V194L probably benign Het
Ppp1r16b A T 2: 158,538,068 (GRCm39) K5M probably damaging Het
Psat1 A T 19: 15,898,307 (GRCm39) S35R probably damaging Het
Qrfprl G A 6: 65,424,385 (GRCm39) M126I probably damaging Het
Rab11fip1 G A 8: 27,646,303 (GRCm39) Q258* probably null Het
Rad51d A G 11: 82,780,623 (GRCm39) L53P probably damaging Het
Rell2 G A 18: 38,091,341 (GRCm39) A169T probably benign Het
Rnf19b T C 4: 128,976,572 (GRCm39) I545T probably benign Het
Slc12a1 G T 2: 125,055,999 (GRCm39) E843D possibly damaging Het
Slc1a4 A G 11: 20,254,346 (GRCm39) S507P probably damaging Het
Slc6a1 G A 6: 114,290,473 (GRCm39) W316* probably null Het
Spesp1 A G 9: 62,180,152 (GRCm39) L252P probably damaging Het
Sphkap G A 1: 83,385,811 (GRCm39) probably benign Het
Srcap A G 7: 127,141,769 (GRCm39) T1850A probably damaging Het
Supv3l1 T C 10: 62,266,365 (GRCm39) T604A possibly damaging Het
Tacr1 A G 6: 82,380,846 (GRCm39) T86A possibly damaging Het
Tenm3 T C 8: 49,127,451 (GRCm39) R76G probably damaging Het
Tmprss6 C A 15: 78,330,977 (GRCm39) A419S probably damaging Het
Usp54 T G 14: 20,612,177 (GRCm39) I880L probably benign Het
Wwp2 T A 8: 108,275,134 (GRCm39) V377D probably damaging Het
Zfp735 A T 11: 73,581,159 (GRCm39) E65D probably benign Het
Zfy2 T C Y: 2,121,491 (GRCm39) E134G 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
R3940:Acta2 UTSW 19 34,220,880 (GRCm39) missense possibly damaging 0.94
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
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'- TTGTGGGATACATGTAGACACAG -3'
(R):5'- GCTTTACAGCCTAGTGAAAGC -3'

Sequencing Primer
(F):5'- AGAGGGATCTAGCCTAAAGTCTTGTC -3'
(R):5'- TTGAGAACTGTGGAGAGCCTC -3'
Posted On 2018-11-06