Mutagenetix > Incidental Mutation

Incidental Mutation 'R7464:Acta2'

578679

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

045538-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.227) question?

Stock #

R7464 (G1)

Quality Score

225.009

Status

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: 98.9%

Validation Efficiency

96% (79/82)

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aass	C	T	6: 23,077,152 (GRCm39)	G736R	possibly damaging	Het
Ankar	A	T	1: 72,738,053 (GRCm39)	V43E	possibly damaging	Het
Apof	A	G	10: 128,105,505 (GRCm39)	I220V	probably benign	Het
Asxl1	G	T	2: 153,239,705 (GRCm39)	A499S	probably benign	Het
Baz2a	T	A	10: 127,957,942 (GRCm39)	D1069E	possibly damaging	Het
Baz2b	T	C	2: 59,807,792 (GRCm39)	T156A	possibly damaging	Het
Bbc3	A	T	7: 16,051,082 (GRCm39)	R169W	unknown	Het
C5ar1	T	A	7: 15,982,691 (GRCm39)	I110L	probably benign	Het
Cd19	C	A	7: 126,010,975 (GRCm39)	R323L	probably damaging	Het
Cdc14b	A	T	13: 64,344,489 (GRCm39)	C113*	probably null	Het
Cngb1	C	A	8: 95,980,811 (GRCm39)	W914L	possibly damaging	Het
Colgalt2	A	G	1: 152,379,895 (GRCm39)	K445E	probably damaging	Het
Crebrf	A	G	17: 26,982,461 (GRCm39)	M608V	unknown	Het
Csf1	T	A	3: 107,656,191 (GRCm39)	H280L	probably benign	Het
Cyp2j11	C	A	4: 96,233,357 (GRCm39)	R113L	probably damaging	Het
D5Ertd579e	G	A	5: 36,771,129 (GRCm39)	H1089Y	probably damaging	Het
Ddx60	C	T	8: 62,393,708 (GRCm39)	T48M	possibly damaging	Het
Defa40	T	A	8: 21,739,910 (GRCm39)	S45T	probably damaging	Het
Dock10	T	C	1: 80,518,032 (GRCm39)	D1315G	probably damaging	Het
Dock2	T	G	11: 34,586,105 (GRCm39)	N526H	probably damaging	Het
Dram2	T	C	3: 106,480,999 (GRCm39)	*268Q	probably null	Het
Emc8	A	G	8: 121,394,657 (GRCm39)	Y21H	possibly damaging	Het
Fam162a	A	G	16: 35,891,863 (GRCm39)	L4P	probably damaging	Het
Fan1	T	A	7: 64,022,234 (GRCm39)	N340Y	probably damaging	Het
Fbxw10	T	A	11: 62,744,124 (GRCm39)	I307N	probably benign	Het
Fbxw16	A	G	9: 109,268,619 (GRCm39)	V257A	possibly damaging	Het
Fer1l6	T	A	15: 58,445,096 (GRCm39)		probably null	Het
Galnt7	A	G	8: 58,037,054 (GRCm39)	Y112H	possibly damaging	Het
Gigyf2	T	C	1: 87,356,326 (GRCm39)	I803T	unknown	Het
Gm28729	A	G	9: 96,403,288 (GRCm39)	I44T	possibly damaging	Het
Gm5447	A	G	13: 31,158,377 (GRCm39)	I34V	not run	Het
H2-M9	A	T	17: 36,953,303 (GRCm39)		probably null	Het
Helz	G	A	11: 107,527,104 (GRCm39)	C864Y	probably damaging	Het
Il25	A	G	14: 55,170,679 (GRCm39)	Y84C	probably null	Het
Itga10	T	A	3: 96,555,471 (GRCm39)	C142S	probably damaging	Het
Kcna10	A	T	3: 107,101,395 (GRCm39)	M9L	probably damaging	Het
Klhl6	G	T	16: 19,775,863 (GRCm39)	Q232K	possibly damaging	Het
Mb21d2	T	G	16: 28,748,298 (GRCm39)	I40L	possibly damaging	Het
Mdm1	T	C	10: 117,988,171 (GRCm39)	S334P	probably benign	Het
Mllt10	T	A	2: 18,175,090 (GRCm39)	D549E	probably benign	Het
Mlxipl	T	C	5: 135,162,482 (GRCm39)	V648A	probably benign	Het
Nars2	A	G	7: 96,689,137 (GRCm39)	K353R	probably benign	Het
Nav1	T	A	1: 135,512,647 (GRCm39)	M138L	probably benign	Het
Neb	T	C	2: 52,083,902 (GRCm39)	T5635A	probably benign	Het
Nktr	A	C	9: 121,579,393 (GRCm39)	I1154L	unknown	Het
Or14j8	A	T	17: 38,263,171 (GRCm39)	V248D	probably damaging	Het
Or2a57	T	G	6: 43,213,228 (GRCm39)	S229A	probably damaging	Het
Or4g17	T	A	2: 111,209,543 (GRCm39)	L66Q	probably damaging	Het
Oxld1	T	C	11: 120,347,963 (GRCm39)	D78G	probably benign	Het
Pde1b	T	C	15: 103,433,256 (GRCm39)	I255T	probably benign	Het
Pkp4	T	A	2: 59,138,481 (GRCm39)	F244I	probably benign	Het
Polg2	C	A	11: 106,664,540 (GRCm39)	V305L	probably benign	Het
Pramel34	C	T	5: 93,784,099 (GRCm39)	C455Y	probably damaging	Het
Ptpn18	G	A	1: 34,512,445 (GRCm39)	D417N	possibly damaging	Het
Sash1	T	C	10: 8,632,509 (GRCm39)	D242G	possibly damaging	Het
Six4	T	C	12: 73,159,304 (GRCm39)	T219A	possibly damaging	Het
Slc28a3	A	C	13: 58,710,835 (GRCm39)	Y562*	probably null	Het
Soat1	A	T	1: 156,266,887 (GRCm39)	W310R	probably damaging	Het
Son	CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC	CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC	16: 91,453,579 (GRCm39)		probably benign	Het
Spef2	T	C	15: 9,740,671 (GRCm39)	N30D	probably benign	Het
Spopfm2	A	T	3: 94,083,411 (GRCm39)	N133K	probably benign	Het
Srebf2	T	A	15: 82,057,075 (GRCm39)	I270N	probably damaging	Het
St8sia3	T	C	18: 64,404,589 (GRCm39)	W289R	probably damaging	Het
Stx5a	T	A	19: 8,720,868 (GRCm39)		probably benign	Het
Tacc1	T	C	8: 25,654,480 (GRCm39)	D689G	probably damaging	Het
Tacc3	A	G	5: 33,818,628 (GRCm39)	D21G	probably benign	Het
Tapt1	G	A	5: 44,346,030 (GRCm39)	R307*	probably null	Het
Tbc1d9b	T	A	11: 50,022,312 (GRCm39)	V16E	probably damaging	Het
Tchhl1	G	A	3: 93,377,971 (GRCm39)	R225K	probably benign	Het
Thumpd3	G	A	6: 113,032,730 (GRCm39)	G156D	probably benign	Het
Tmem178	C	T	17: 81,252,331 (GRCm39)	P72S	probably benign	Het
Tmem52	C	T	4: 155,553,926 (GRCm39)	P46S	probably benign	Het
Tmem94	G	T	11: 115,677,082 (GRCm39)	R118L	possibly damaging	Het
Tulp3	A	T	6: 128,303,792 (GRCm39)	V269D	probably benign	Het
Ubr1	A	G	2: 120,720,255 (GRCm39)		probably null	Het
Upf1	G	A	8: 70,786,073 (GRCm39)	S962L	probably benign	Het
Vcpip1	C	T	1: 9,816,745 (GRCm39)	R546Q	probably damaging	Het
Vmn2r49	A	C	7: 9,722,820 (GRCm39)	S151R	probably benign	Het
Wac	T	C	18: 7,871,746 (GRCm39)		probably null	Het
Wrn	C	T	8: 33,826,024 (GRCm39)		probably null	Het
Zfp286	C	A	11: 62,671,627 (GRCm39)	D149Y	probably benign	Het
Zfp748	A	G	13: 67,690,091 (GRCm39)	C390R	probably damaging	Het
Zfp873	A	G	10: 81,896,210 (GRCm39)	T314A	possibly damaging	Het
Zfyve1	C	T	12: 83,598,261 (GRCm39)	D656N	probably benign	Het
Zmym1	T	A	4: 126,952,728 (GRCm39)	K18*	probably null	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
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'- TAGACACAGAGGGATCTAGCC -3'
(R):5'- CGGATCATCAAAGGCTTTACAGC -3'

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

Posted On

2019-10-07