Mutagenetix > Incidental Mutation

Incidental Mutation 'R7463:Acta2'

578596

Institutional Source

Beutler Lab

Gene Symbol

Acta2

Ensembl Gene

ENSMUSG00000035783

Gene Name

actin, alpha 2, smooth muscle, aorta

Synonyms

alphaSMA, SMalphaA, 0610041G09Rik, Actvs, a-SMA

MMRRC Submission

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.343) question?

Stock #

R7463 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

34241090-34255336 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 34252531 bp (GRCm38)

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: 99.9%
10x: 99.4%
20x: 97.7%

Validation Efficiency

100% (62/62)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc10	A	T	17: 46,323,772	V435E	probably damaging	Het
Adcy2	T	C	13: 68,730,280	D413G	probably damaging	Het
Adgrg6	T	A	10: 14,434,396	D727V	possibly damaging	Het
Aebp2	C	T	6: 140,637,726	Q309*	probably null	Het
Amy1	A	T	3: 113,569,884	C43*	probably null	Het
Bpifc	T	C	10: 85,979,334	E256G	probably benign	Het
Bysl	A	T	17: 47,602,471	S296T	probably benign	Het
Carmil3	C	T	14: 55,502,396	P980L	probably damaging	Het
Coch	T	A	12: 51,593,625	M1K	probably null	Het
Cpt2	A	T	4: 107,908,157	F137I	probably damaging	Het
Crem	T	C	18: 3,295,094	I112V	probably benign	Het
Cul9	A	G	17: 46,520,476		probably null	Het
Cyp3a41a	T	A	5: 145,713,564	I90F	probably damaging	Het
Cyp4f16	C	T	17: 32,550,787	A457V	possibly damaging	Het
Ddx6	A	G	9: 44,628,729	E318G	probably damaging	Het
Dip2b	A	G	15: 100,154,157	E213G	probably benign	Het
Dlx5	T	C	6: 6,878,316	H238R	probably damaging	Het
Dnaic2	A	C	11: 114,754,406	I556L	probably benign	Het
Dnmt1	C	T	9: 20,912,225	V1147M	possibly damaging	Het
Egf	G	T	3: 129,740,015	Q59K	probably benign	Het
Ermp1	A	T	19: 29,646,262	Y109*	probably null	Het
Fer1l6	T	A	15: 58,573,601	Y573*	probably null	Het
Fmnl1	T	C	11: 103,193,128	L503P	probably damaging	Het
Gnptab	T	G	10: 88,431,389	I447M	probably damaging	Het
Hgf	G	A	5: 16,578,450	D253N	probably benign	Het
Hjurp	CTCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCT	C	1: 88,266,277		probably benign	Het
Igf2r	T	C	17: 12,710,645	T958A	probably benign	Het
Kcnd2	T	A	6: 21,216,498	L67Q	probably damaging	Het
Kif5a	A	G	10: 127,243,724	V248A	probably damaging	Het
Krt33b	A	G	11: 100,029,563	I88T	probably damaging	Het
Lhx2	G	A	2: 38,351,846	E25K	possibly damaging	Het
Mex3d	C	T	10: 80,381,698	G562R		Het
Myom2	A	T	8: 15,117,679	Y1088F	probably null	Het
Ncapg	T	A	5: 45,694,092		probably null	Het
Nudc	A	C	4: 133,534,403	V190G	possibly damaging	Het
Obscn	G	T	11: 59,122,860	R1054S	probably benign	Het
Olfr1045	T	C	2: 86,197,838	M305V	probably benign	Het
Olfr1510	A	G	14: 52,410,711	W54R	probably benign	Het
Olfr651	T	C	7: 104,553,482	S188P	possibly damaging	Het
Olfr683	T	A	7: 105,143,937	M119L	probably benign	Het
Olfr710	A	T	7: 106,944,173	V276E	probably damaging	Het
Olfr979	A	G	9: 40,000,564	V221A	probably benign	Het
Pcdh10	A	T	3: 45,383,572	R891S	possibly damaging	Het
Pcdh15	C	T	10: 74,631,770	S1873L	possibly damaging	Het
Pcdh7	A	G	5: 57,720,998	K632E	probably benign	Het
Pcdhgb8	G	A	18: 37,763,427	A517T	probably damaging	Het
Ptgr2	A	T	12: 84,292,298		probably benign	Het
Ptpn18	G	A	1: 34,473,364	D417N	possibly damaging	Het
Racgap1	T	A	15: 99,642,958	T4S	probably benign	Het
Rb1cc1	A	G	1: 6,249,180	H941R	probably benign	Het
Reln	T	C	5: 22,103,435	H312R	probably damaging	Het
Rnf166	T	A	8: 122,467,987	H208L	probably damaging	Het
Theg	T	C	10: 79,576,715	E314G	probably damaging	Het
Timeless	T	C	10: 128,250,426	S999P	probably benign	Het
Tmem94	G	T	11: 115,786,256	R118L	possibly damaging	Het
Tor1aip1	A	T	1: 156,007,609	H349Q	possibly damaging	Het
Ttn	T	A	2: 76,920,460	E3415V	probably benign	Het
Vmn2r102	A	T	17: 19,676,624	N78Y	probably damaging	Het
Wdr11	A	T	7: 129,607,086	D427V	probably damaging	Het
Zer1	A	T	2: 30,113,437		probably benign	Het
Zfp516	T	A	18: 82,957,108	M477K	probably benign	Het

Other mutations in Acta2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01660:Acta2	APN	19	34251791	missense	probably damaging	0.98
IGL01802:Acta2	APN	19	34243436	missense	possibly damaging	0.91
IGL01945:Acta2	APN	19	34251854	missense	probably benign	0.03
IGL02136:Acta2	APN	19	34251830	missense	probably damaging	1.00
IGL03114:Acta2	APN	19	34244910	critical splice donor site	probably null
R0648:Acta2	UTSW	19	34248534	missense	probably benign
R1393:Acta2	UTSW	19	34241792	missense	probably damaging	1.00
R1597:Acta2	UTSW	19	34252583	splice site	probably benign
R2045:Acta2	UTSW	19	34243399	missense	probably damaging	1.00
R2338:Acta2	UTSW	19	34248541	splice site	probably benign
R3113:Acta2	UTSW	19	34243352	missense	probably benign
R3940:Acta2	UTSW	19	34243480	missense	possibly damaging	0.94
R3955:Acta2	UTSW	19	34251726	splice site	probably benign
R4765:Acta2	UTSW	19	34246152	missense	probably damaging	1.00
R4826:Acta2	UTSW	19	34251823	nonsense	probably null
R6453:Acta2	UTSW	19	34246657	missense	probably damaging	1.00
R6754:Acta2	UTSW	19	34244983	missense	probably damaging	1.00
R6941:Acta2	UTSW	19	34252522	missense	probably damaging	1.00
R7311:Acta2	UTSW	19	34241786	missense	probably damaging	1.00
R7461:Acta2	UTSW	19	34252531	missense	probably benign	0.00
R7464:Acta2	UTSW	19	34252531	missense	probably benign	0.00
R7536:Acta2	UTSW	19	34252531	missense	probably benign	0.00
R7537:Acta2	UTSW	19	34252531	missense	probably benign	0.00
R7605:Acta2	UTSW	19	34252531	missense	probably benign	0.00
R7609:Acta2	UTSW	19	34252531	missense	probably benign	0.00
R7610:Acta2	UTSW	19	34252531	missense	probably benign	0.00
R7611:Acta2	UTSW	19	34252531	missense	probably benign	0.00
R7613:Acta2	UTSW	19	34252531	missense	probably benign	0.00
R7626:Acta2	UTSW	19	34252531	missense	probably benign	0.00
R7627:Acta2	UTSW	19	34252531	missense	probably benign	0.00
R7803:Acta2	UTSW	19	34243418	missense	probably benign
R7872:Acta2	UTSW	19	34243439	missense	probably damaging	0.99
R8801:Acta2	UTSW	19	34251807	missense	probably damaging	0.99
R9059:Acta2	UTSW	19	34241755	missense	possibly damaging	0.87
R9191:Acta2	UTSW	19	34245080	missense	possibly damaging	0.82
R9487:Acta2	UTSW	19	34248465	missense	probably damaging	0.99
R9675:Acta2	UTSW	19	34246212	missense
R9776:Acta2	UTSW	19	34246081	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- GTAGACACAGAGGGATCTAGCC -3'
(R):5'- CGGATCATCAAAGGCTTTACAGC -3'

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

Posted On

2019-10-07