Mutagenetix > Incidental Mutation

Incidental Mutation 'R7605:Acta2'

588280

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

045675-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.229) question?

Stock #

R7605 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

34218490-34232990 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 34229931 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 8 (T8I)

Ref Sequence

ENSEMBL: ENSMUSP00000048218 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039631]

AlphaFold

P62737

Predicted Effect

probably benign
Transcript: ENSMUST00000039631
AA Change: T8I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000048218
Gene: ENSMUSG00000035783
AA Change: T8I

Domain	Start	End	E-Value	Type
ACTIN	7	377	9.92e-237	SMART

Meta Mutation Damage Score

0.1032

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb5	A	G	12: 118,881,899 (GRCm39)	L610P	probably damaging	Het
Asphd2	A	G	5: 112,539,807 (GRCm39)	W9R	probably damaging	Het
Blvrb	T	A	7: 27,165,218 (GRCm39)	H179Q	probably damaging	Het
Capn13	A	T	17: 73,652,132 (GRCm39)		probably null	Het
Casp6	A	T	3: 129,705,812 (GRCm39)	M160L	probably benign	Het
Chordc1	A	G	9: 18,215,668 (GRCm39)	E140G	probably benign	Het
Col24a1	A	T	3: 145,244,442 (GRCm39)	Y1572F	possibly damaging	Het
Cul9	A	G	17: 46,852,658 (GRCm39)	S235P	probably damaging	Het
Cyp2u1	A	T	3: 131,091,602 (GRCm39)	M306K	probably damaging	Het
Dhx33	A	G	11: 70,890,299 (GRCm39)	L240P	probably damaging	Het
Dna2	T	A	10: 62,796,054 (GRCm39)	D494E	probably benign	Het
Dnah7c	C	T	1: 46,671,470 (GRCm39)	R1620C	probably damaging	Het
Dpp8	G	A	9: 64,962,240 (GRCm39)	V427M	probably benign	Het
Dpt	G	A	1: 164,624,400 (GRCm39)	G34S	unknown	Het
Emb	T	A	13: 117,401,046 (GRCm39)	N198K	probably damaging	Het
Entpd5	T	G	12: 84,443,482 (GRCm39)	H62P	probably damaging	Het
Ep300	A	C	15: 81,505,353 (GRCm39)	M658L	unknown	Het
Epb41l4a	T	A	18: 33,930,504 (GRCm39)	D651V	probably damaging	Het
Epha7	C	T	4: 28,871,937 (GRCm39)	S422L	probably benign	Het
Ephb2	A	T	4: 136,498,419 (GRCm39)	V220E	probably damaging	Het
Fam187a	T	A	11: 102,776,874 (GRCm39)	L226H	possibly damaging	Het
Fbxo42	G	A	4: 140,927,129 (GRCm39)	A470T	probably benign	Het
Fcgrt	C	T	7: 44,744,675 (GRCm39)	W264*	probably null	Het
Flt3	A	C	5: 147,286,386 (GRCm39)	H733Q	probably benign	Het
Gabrr2	A	G	4: 33,082,560 (GRCm39)	D228G	probably damaging	Het
Gars1	T	C	6: 55,054,735 (GRCm39)	S681P	probably damaging	Het
Gata2	T	C	6: 88,177,390 (GRCm39)	V140A	possibly damaging	Het
Gm8232	A	T	14: 44,672,384 (GRCm39)	N100I		Het
Grik4	A	G	9: 42,599,367 (GRCm39)	C37R	probably damaging	Het
Grm8	T	C	6: 27,618,678 (GRCm39)	E388G	probably damaging	Het
Hivep3	CGG	CG	4: 119,955,108 (GRCm39)	1141	probably null	Het
Igsf9b	C	T	9: 27,234,608 (GRCm39)	T491I	probably damaging	Het
Impa1	C	T	3: 10,389,147 (GRCm39)	V105I	probably damaging	Het
Inf2	A	G	12: 112,567,771 (GRCm39)	T134A	probably damaging	Het
Itgb4	T	A	11: 115,897,302 (GRCm39)	V1521E	probably benign	Het
Iws1	T	A	18: 32,222,540 (GRCm39)	D623E	probably benign	Het
Lhfpl5	T	C	17: 28,795,305 (GRCm39)	S111P	possibly damaging	Het
Lyzl1	T	C	18: 4,169,244 (GRCm39)	C83R	probably damaging	Het
Madd	G	A	2: 91,000,055 (GRCm39)	T617M	possibly damaging	Het
Magi2	A	G	5: 20,433,383 (GRCm39)	T163A	probably damaging	Het
Mdn1	C	A	4: 32,694,599 (GRCm39)	H1107Q	probably damaging	Het
Mfsd14b	A	T	13: 65,214,591 (GRCm39)	Y454N	probably benign	Het
Mrgprb3	T	A	7: 48,292,862 (GRCm39)	I230F	probably benign	Het
Mroh2b	C	T	15: 4,974,505 (GRCm39)	L1162F	probably damaging	Het
Or11i1	G	T	3: 106,729,337 (GRCm39)	H179Q	probably damaging	Het
Or2aj5	T	C	16: 19,425,022 (GRCm39)	Y131C	probably damaging	Het
Or51f23b	C	T	7: 102,402,952 (GRCm39)	M61I	probably benign	Het
Or51m1	T	C	7: 103,578,075 (GRCm39)	L15P	probably damaging	Het
Or5ar1	A	G	2: 85,671,383 (GRCm39)	F251L	probably benign	Het
Or9e1	A	G	11: 58,732,326 (GRCm39)	I129V	probably benign	Het
Pclo	T	C	5: 14,729,050 (GRCm39)	L2636P	unknown	Het
Pfkm	G	A	15: 98,019,191 (GRCm39)	A181T	probably damaging	Het
Pik3r1	C	T	13: 101,839,346 (GRCm39)	A169T	probably benign	Het
R3hdml	T	A	2: 163,337,688 (GRCm39)	M114K	probably damaging	Het
Robo1	C	A	16: 72,821,189 (GRCm39)	R1310S	probably benign	Het
Scnm1	A	T	3: 95,040,186 (GRCm39)	N115K	probably benign	Het
Sfn	A	G	4: 133,328,548 (GRCm39)	V178A	probably damaging	Het
Shank2	C	T	7: 143,645,516 (GRCm39)	T366I	possibly damaging	Het
Siah1a	T	C	8: 87,451,953 (GRCm39)	D177G	probably damaging	Het
Slc37a2	A	C	9: 37,148,624 (GRCm39)	I286S	possibly damaging	Het
Smarce1	T	C	11: 99,119,118 (GRCm39)	T12A	probably benign	Het
Spata31d1c	T	A	13: 65,183,654 (GRCm39)	S399T	probably benign	Het
Specc1	A	G	11: 62,102,506 (GRCm39)	S942G	possibly damaging	Het
Syt13	T	C	2: 92,773,478 (GRCm39)	F164S	probably benign	Het
Topbp1	A	T	9: 103,209,905 (GRCm39)	T851S	probably benign	Het
Ttn	A	T	2: 76,800,015 (GRCm39)	S398T	unknown	Het
Vmn1r12	T	C	6: 57,136,521 (GRCm39)	V206A	probably damaging	Het
Vmn1r224	G	A	17: 20,640,221 (GRCm39)	W266*	probably null	Het
Vmn2r68	T	C	7: 84,883,116 (GRCm39)	D212G	probably benign	Het
Vps13b	G	T	15: 35,770,792 (GRCm39)	K2078N	probably damaging	Het
Zfp251	A	C	15: 76,738,557 (GRCm39)	F179V	possibly damaging	Het

Other mutations in Acta2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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'- TAGACACAGAGGGATCTAGCC -3'
(R):5'- TCGGATCATCAAAGGCTTTACAGC -3'

Sequencing Primer
(F):5'- AGGGATCTAGCCTAAAGTCTTGTCC -3'
(R):5'- GCTTTACAGCCTAGTGAAAGC -3'

Posted On

2019-10-24