Mutagenetix > Incidental Mutation

Incidental Mutation 'R7611:Acta2'

588644

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

045715-MU

Accession Numbers

Essential gene?

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

Stock #

R7611 (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: 99.0%

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy8	C	T	15: 64,792,882 (GRCm39)	G25S	probably benign	Het
Ahnak2	G	T	12: 112,751,749 (GRCm39)	D35E		Het
Birc6	T	C	17: 74,969,713 (GRCm39)	M4261T	probably damaging	Het
Caln1	T	G	5: 130,534,918 (GRCm39)	F45V	probably damaging	Het
Camta2	A	T	11: 70,572,372 (GRCm39)	I313N	possibly damaging	Het
Capns1	T	A	7: 29,889,539 (GRCm39)	E220V	probably damaging	Het
Carmil1	C	A	13: 24,197,315 (GRCm39)	V1374L	probably benign	Het
Casp2	T	G	6: 42,250,972 (GRCm39)	L290R	possibly damaging	Het
Cdkn2b	C	A	4: 89,228,980 (GRCm39)	V19L	probably benign	Het
Ces1c	T	C	8: 93,851,139 (GRCm39)	N162D	probably benign	Het
Cfap96	A	G	8: 46,423,488 (GRCm39)	Y75H	probably damaging	Het
Chd9	T	C	8: 91,763,017 (GRCm39)	S2281P	probably damaging	Het
Chst13	T	C	6: 90,285,999 (GRCm39)	D321G	probably damaging	Het
Ckap2l	G	T	2: 129,127,600 (GRCm39)	P193T	possibly damaging	Het
Clca4b	T	A	3: 144,627,757 (GRCm39)	T405S	probably benign	Het
Cmah	T	C	13: 24,619,630 (GRCm39)	V265A	probably benign	Het
Cyp3a11	A	T	5: 145,797,191 (GRCm39)	M396K	probably benign	Het
Ddr2	A	T	1: 169,825,727 (GRCm39)	M291K	possibly damaging	Het
Ddx43	T	A	9: 78,309,635 (GRCm39)	I145N	probably benign	Het
Ephb2	T	A	4: 136,388,212 (GRCm39)		probably null	Het
Fgfr1	A	T	8: 26,048,221 (GRCm39)	K106*	probably null	Het
Gpr6	A	G	10: 40,946,875 (GRCm39)	F236L	probably benign	Het
Grin2c	A	G	11: 115,143,511 (GRCm39)	S750P	probably damaging	Het
Hecw2	A	G	1: 53,952,459 (GRCm39)	S925P	probably damaging	Het
Hivep3	CGG	CG	4: 119,955,108 (GRCm39)	1141	probably null	Het
Hmg20b	T	A	10: 81,185,432 (GRCm39)		probably benign	Het
Kcnk10	T	A	12: 98,484,899 (GRCm39)	Y79F	probably damaging	Het
Lrrc30	A	T	17: 67,939,424 (GRCm39)	F52Y	probably damaging	Het
Lrriq1	T	C	10: 103,036,432 (GRCm39)	K907R	possibly damaging	Het
Mbd3	T	C	10: 80,231,352 (GRCm39)	D63G	probably damaging	Het
Mettl21a	C	T	1: 64,654,266 (GRCm39)	A84T	probably benign	Het
Mmp19	A	G	10: 128,634,857 (GRCm39)	D491G	probably benign	Het
Mug1	A	T	6: 121,852,387 (GRCm39)		probably null	Het
Myh1	A	T	11: 67,101,243 (GRCm39)	H673L	possibly damaging	Het
Nlrc5	T	C	8: 95,239,276 (GRCm39)		probably null	Het
Nme9	T	A	9: 99,352,843 (GRCm39)	S264R	probably benign	Het
Nup153	T	C	13: 46,840,798 (GRCm39)	T937A	probably benign	Het
Obsl1	T	C	1: 75,482,024 (GRCm39)	E282G	probably damaging	Het
Or1o3	A	G	17: 37,573,745 (GRCm39)	V270A	probably benign	Het
Or2w2	A	G	13: 21,758,488 (GRCm39)	V46A	probably benign	Het
Or4l15	C	A	14: 50,198,368 (GRCm39)	A54S	probably benign	Het
Or5an10	T	A	19: 12,276,242 (GRCm39)	M85L	probably damaging	Het
Or5b99	T	A	19: 12,976,431 (GRCm39)	I27N	possibly damaging	Het
Or5m5	T	A	2: 85,814,407 (GRCm39)	C74*	probably null	Het
Or8k30	T	A	2: 86,339,397 (GRCm39)	I198K	possibly damaging	Het
Pcdhga12	T	C	18: 37,901,478 (GRCm39)	F770S	possibly damaging	Het
Pfkp	T	A	13: 6,655,119 (GRCm39)		probably null	Het
Prr29	C	G	11: 106,267,158 (GRCm39)	H58D	probably damaging	Het
Ptprz1	T	A	6: 23,001,219 (GRCm39)	M1103K	probably benign	Het
Rigi	T	C	4: 40,225,651 (GRCm39)	E250G	probably damaging	Het
Rsph4a	C	T	10: 33,781,473 (GRCm39)	P108S	probably benign	Het
Setd1b	A	C	5: 123,290,657 (GRCm39)	M875L	unknown	Het
Slc15a2	A	G	16: 36,576,673 (GRCm39)	S485P	probably benign	Het
Smoc1	A	G	12: 81,226,444 (GRCm39)	D423G	probably damaging	Het
Spast	T	A	17: 74,676,198 (GRCm39)	V337D	probably damaging	Het
Spesp1	T	C	9: 62,179,987 (GRCm39)	K307R	possibly damaging	Het
Sulf1	A	G	1: 12,906,467 (GRCm39)	E503G	probably benign	Het
Susd6	T	C	12: 80,921,341 (GRCm39)	Y313H	probably damaging	Het
Them4	A	T	3: 94,238,865 (GRCm39)	D224V	possibly damaging	Het
Tpsg1	G	T	17: 25,592,184 (GRCm39)	G86V	probably damaging	Het
Tspear	A	T	10: 77,717,049 (GRCm39)	T575S	probably benign	Het
Usp21	A	T	1: 171,113,142 (GRCm39)	H211Q	probably benign	Het
Vmn1r189	T	C	13: 22,286,322 (GRCm39)	S172G	probably benign	Het
Vmn2r114	T	C	17: 23,515,944 (GRCm39)	S516G	probably damaging	Het
Vmn2r28	T	A	7: 5,484,255 (GRCm39)	R648S	probably benign	Het
Vmn2r6	C	A	3: 64,472,563 (GRCm39)	V53F	probably damaging	Het
Vmn2r76	A	G	7: 85,879,388 (GRCm39)	I304T	probably benign	Het
Vmn2r88	A	C	14: 51,651,454 (GRCm39)	Y256S		Het
Zfhx4	A	T	3: 5,468,831 (GRCm39)	K3021N	probably damaging	Het
Zfp647	T	C	15: 76,795,988 (GRCm39)	H224R	probably damaging	Het
Zfp865	A	G	7: 5,034,130 (GRCm39)	E705G	probably 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
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
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'- AGACACAGAGGGATCTAGCC -3'
(R):5'- CGGATCATCAAAGGCTTTACAG -3'

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

Posted On

2019-10-24