Mutagenetix > Incidental Mutation

Incidental Mutation 'R0648:Acta2'

57386

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

038833-MU

Accession Numbers

Essential gene?

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

Stock #

R0648 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

34218490-34232990 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 34225934 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 87 (I87V)

Ref Sequence

ENSEMBL: ENSMUSP00000048218 (fasta)

Gene Model

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

AlphaFold

P62737

Predicted Effect

probably benign
Transcript: ENSMUST00000039631
AA Change: I87V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000048218
Gene: ENSMUSG00000035783
AA Change: I87V

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

Meta Mutation Damage Score

0.1329

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.6%
20x: 96.0%

Validation Efficiency

100% (80/80)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc5	A	G	16: 20,184,632 (GRCm39)	V1009A	possibly damaging	Het
Arid1a	A	G	4: 133,412,515 (GRCm39)	Y1560H	unknown	Het
Bcor	C	T	X: 11,925,290 (GRCm39)	R102Q	probably damaging	Het
Camsap2	A	T	1: 136,232,057 (GRCm39)	D179E	probably damaging	Het
Ccdc168	A	G	1: 44,095,723 (GRCm39)	S1792P	possibly damaging	Het
Ccdc18	T	A	5: 108,283,426 (GRCm39)	S46T	probably damaging	Het
Ccdc18	A	C	5: 108,322,853 (GRCm39)	Q651P	probably damaging	Het
Cdc73	T	C	1: 143,571,200 (GRCm39)	T80A	probably benign	Het
Cdh20	T	A	1: 109,993,337 (GRCm39)		probably benign	Het
Cenpe	G	A	3: 134,935,843 (GRCm39)	G426D	probably damaging	Het
Cenpt	A	G	8: 106,571,592 (GRCm39)	V487A	probably damaging	Het
Clec2m	A	G	6: 129,307,932 (GRCm39)	F46L	probably benign	Het
Col4a1	G	A	8: 11,296,892 (GRCm39)	P84S	unknown	Het
Dennd2d	A	G	3: 106,407,871 (GRCm39)	I450M	probably damaging	Het
Dhps	C	A	8: 85,799,911 (GRCm39)		probably null	Het
Ebf1	A	T	11: 44,882,337 (GRCm39)	H431L	probably damaging	Het
Efcab6	A	G	15: 83,817,265 (GRCm39)		probably benign	Het
Egflam	T	C	15: 7,237,190 (GRCm39)	H990R	probably damaging	Het
Ercc6l2	A	G	13: 63,992,459 (GRCm39)	T303A	probably benign	Het
Fam167b	T	C	4: 129,472,150 (GRCm39)	K7E	probably benign	Het
Fgd3	T	C	13: 49,450,049 (GRCm39)	I67V	probably benign	Het
Fhip1a	A	C	3: 85,637,921 (GRCm39)	V126G	probably damaging	Het
Fn1	A	T	1: 71,636,744 (GRCm39)	V2045D	possibly damaging	Het
Gnl1	A	G	17: 36,293,490 (GRCm39)	N225S	probably damaging	Het
Gpx6	A	T	13: 21,503,047 (GRCm39)	N154Y	probably benign	Het
H2bc21	A	G	3: 96,128,851 (GRCm39)	S124G	probably benign	Het
Haus8	C	A	8: 71,709,174 (GRCm39)	G79V	probably damaging	Het
Hdgfl1	A	T	13: 26,953,836 (GRCm39)	L79Q	probably damaging	Het
Impdh2	T	C	9: 108,440,665 (GRCm39)	Y83H	probably benign	Het
Lama2	T	C	10: 26,865,372 (GRCm39)	T2929A	probably benign	Het
Lpin2	T	C	17: 71,536,307 (GRCm39)	S199P	probably benign	Het
Moap1	T	C	12: 102,708,776 (GRCm39)	T258A	probably benign	Het
Mrps35	C	A	6: 146,957,443 (GRCm39)	S156*	probably null	Het
Mrtfa	A	G	15: 80,901,121 (GRCm39)	S457P	probably damaging	Het
Mtbp	C	T	15: 55,466,597 (GRCm39)	P537S	probably benign	Het
Ncstn	C	A	1: 171,895,454 (GRCm39)	V565F	probably benign	Het
Nhsl1	A	G	10: 18,407,474 (GRCm39)	N1536S	possibly damaging	Het
Nkain4	T	C	2: 180,584,905 (GRCm39)	Q103R	possibly damaging	Het
Nsun2	T	A	13: 69,775,706 (GRCm39)	N383K	probably damaging	Het
Or13p4	C	T	4: 118,547,269 (GRCm39)	V127I	probably benign	Het
Or6c33	A	G	10: 129,853,350 (GRCm39)	N40S	probably damaging	Het
Parp1	C	T	1: 180,428,005 (GRCm39)		probably benign	Het
Pkd1	G	A	17: 24,813,911 (GRCm39)	R4125H	probably damaging	Het
Plxnd1	T	C	6: 115,970,962 (GRCm39)	I269V	possibly damaging	Het
Polr1f	C	T	12: 33,487,999 (GRCm39)	Q305*	probably null	Het
Ppp1r36dn	A	G	12: 76,498,070 (GRCm39)		noncoding transcript	Het
Qrich1	T	A	9: 108,422,076 (GRCm39)	N563K	probably damaging	Het
Rab3il1	TGAAG	TGAAGAAG	19: 10,004,752 (GRCm39)		probably benign	Het
Rell1	G	A	5: 64,082,088 (GRCm39)	T271M	probably benign	Het
Rgl1	A	G	1: 152,412,016 (GRCm39)		probably null	Het
Rph3a	C	T	5: 121,097,333 (GRCm39)	R261H	possibly damaging	Het
Ryr2	A	T	13: 11,739,219 (GRCm39)	M2161K	possibly damaging	Het
Scaf11	T	C	15: 96,316,339 (GRCm39)	N1075S	possibly damaging	Het
Serpina3j	A	G	12: 104,280,938 (GRCm39)	D37G	probably benign	Het
Siah2	A	G	3: 58,583,635 (GRCm39)	V217A	probably damaging	Het
Sik2	T	C	9: 50,810,045 (GRCm39)	D506G	probably benign	Het
Skap2	A	C	6: 51,856,765 (GRCm39)	V279G	probably benign	Het
Slc8a3	G	T	12: 81,361,220 (GRCm39)	T533N	probably damaging	Het
Slc9a7	A	T	X: 20,028,659 (GRCm39)		probably benign	Het
Snai3	G	T	8: 123,181,733 (GRCm39)	F241L	probably damaging	Het
Speg	T	C	1: 75,404,622 (GRCm39)	S2805P	probably benign	Het
Spink5	A	T	18: 44,132,864 (GRCm39)		probably benign	Het
Tctn1	C	T	5: 122,389,761 (GRCm39)	E254K	probably benign	Het
Tdrd3	C	T	14: 87,709,618 (GRCm39)	T100M	probably damaging	Het
Tex47	T	C	5: 7,355,215 (GRCm39)	V132A	probably benign	Het
Thbs3	A	G	3: 89,123,972 (GRCm39)		probably null	Het
Tigit	T	A	16: 43,482,401 (GRCm39)	Y111F	probably damaging	Het
Tmem245	A	G	4: 56,906,270 (GRCm39)	I148T	probably benign	Het
Tmem97	A	G	11: 78,441,365 (GRCm39)	Y39H	probably benign	Het
Tnks2	T	A	19: 36,839,474 (GRCm39)		probably null	Het
Trp53bp1	A	G	2: 121,066,188 (GRCm39)	V846A	probably benign	Het
Tulp2	T	G	7: 45,169,210 (GRCm39)	I259S	probably damaging	Het
Ubxn1	G	A	19: 8,851,612 (GRCm39)	R215H	probably damaging	Het
Vmn1r17	A	G	6: 57,337,460 (GRCm39)	F253L	probably damaging	Het
Vmn2r10	T	C	5: 109,143,782 (GRCm39)	M723V	probably benign	Het
Xndc1	T	C	7: 101,728,031 (GRCm39)	V14A	possibly damaging	Het
Xpnpep1	A	G	19: 52,986,294 (GRCm39)		probably benign	Het
Yes1	T	A	5: 32,812,862 (GRCm39)	M322K	possibly damaging	Het
Zdhhc14	C	A	17: 5,543,877 (GRCm39)	N52K	probably benign	Het
Zfp42	A	G	8: 43,749,015 (GRCm39)	V162A	probably benign	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
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
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'- GTTGCCCATGCCCCAAATTCAC -3'
(R):5'- AGCCTATGTCCTTGACAAATACGCC -3'

Sequencing Primer
(F):5'- CCCCAAATTCACCAGGGTTAG -3'
(R):5'- TCTGCTACACCAATAGTTGAGC -3'

Posted On

2013-07-11