Mutagenetix > Incidental Mutation

Incidental Mutation 'R7609:Acta2'

588524

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

045714-MU

Accession Numbers

Essential gene?

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

Stock #

R7609 (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: 99.1%

Validation Efficiency

96% (69/72)

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
4930563M21Rik	T	C	9: 55,896,744 (GRCm39)	Y288C	probably benign	Het
Agl	C	A	3: 116,600,928 (GRCm39)	R24I	possibly damaging	Het
Aldoart2	A	G	12: 55,612,833 (GRCm39)	T253A	probably benign	Het
Ankrd39	G	A	1: 36,578,546 (GRCm39)	R160W	probably damaging	Het
Aspscr1	C	T	11: 120,568,348 (GRCm39)	T57M	probably damaging	Het
Baz2b	A	G	2: 59,792,817 (GRCm39)	L437S	probably benign	Het
Bcl9l	T	A	9: 44,417,044 (GRCm39)	L331Q	probably damaging	Het
Cdhr4	C	A	9: 107,874,482 (GRCm39)	P546T	probably damaging	Het
Cfap61	T	C	2: 145,954,453 (GRCm39)	C231R	unknown	Het
Cnih4	T	C	1: 180,983,467 (GRCm39)	L61P	probably damaging	Het
Dtx4	A	G	19: 12,469,645 (GRCm39)	Y161H	probably damaging	Het
Epha7	C	T	4: 28,871,937 (GRCm39)	S422L	probably benign	Het
Ercc6	A	G	14: 32,288,318 (GRCm39)	H830R	probably benign	Het
Exoc7	T	C	11: 116,180,085 (GRCm39)	N673S	possibly damaging	Het
Gm12185	T	C	11: 48,806,850 (GRCm39)	S114G	possibly damaging	Het
Hsfy2	A	T	1: 56,676,310 (GRCm39)	F76I	probably benign	Het
Igsf9b	A	G	9: 27,257,186 (GRCm39)	D1413G	probably benign	Het
Klk1b8	G	A	7: 43,451,603 (GRCm39)	C198Y	probably damaging	Het
Lama3	G	T	18: 12,664,891 (GRCm39)		probably null	Het
Lce3f	A	T	3: 92,900,403 (GRCm39)	S75C	unknown	Het
Ldhal6b	T	C	17: 5,468,266 (GRCm39)	M223V	probably benign	Het
Magoh	T	C	4: 107,744,409 (GRCm39)	V126A	possibly damaging	Het
Mc1r	A	T	8: 124,135,032 (GRCm39)	I262F	probably damaging	Het
Mecom	A	G	3: 30,010,591 (GRCm39)	I629T	probably damaging	Het
Mkrn2os	A	G	6: 115,563,687 (GRCm39)	V116A	possibly damaging	Het
Mtcl3	A	T	10: 29,024,224 (GRCm39)	D380V	probably damaging	Het
Muc5b	T	A	7: 141,415,466 (GRCm39)	V2804D	possibly damaging	Het
Myo15a	T	C	11: 60,379,637 (GRCm39)	V279A		Het
Nhlrc2	A	G	19: 56,583,328 (GRCm39)	I600V	probably benign	Het
Nipbl	T	C	15: 8,335,356 (GRCm39)	Q2183R	probably benign	Het
Obscn	C	T	11: 58,891,125 (GRCm39)	E7136K	unknown	Het
Or10ag56	T	C	2: 87,139,853 (GRCm39)	V260A	probably benign	Het
Or5p4	T	A	7: 107,680,753 (GRCm39)	F251I	probably damaging	Het
Or8c9	A	C	9: 38,241,520 (GRCm39)	L209F	possibly damaging	Het
Or8g37	C	T	9: 39,731,583 (GRCm39)	T216I	probably benign	Het
Otop3	T	C	11: 115,230,546 (GRCm39)	I141T	possibly damaging	Het
Pde4dip	C	A	3: 97,622,881 (GRCm39)	V1443F	possibly damaging	Het
Pdgfra	T	C	5: 75,327,382 (GRCm39)	V193A	probably benign	Het
Phf3	T	C	1: 30,844,582 (GRCm39)	Y1459C	probably benign	Het
Pias4	A	T	10: 80,993,860 (GRCm39)		probably null	Het
Plcg2	A	G	8: 118,284,852 (GRCm39)	N159S	probably benign	Het
Plekha7	T	C	7: 115,763,681 (GRCm39)	D307G	probably benign	Het
Ptprd	T	C	4: 75,990,240 (GRCm39)	K491E	probably benign	Het
Rbpjl	A	T	2: 164,247,734 (GRCm39)	R62S	probably benign	Het
Rgs11	T	C	17: 26,426,415 (GRCm39)	S245P	probably damaging	Het
Ripor3	G	A	2: 167,826,490 (GRCm39)	A685V	possibly damaging	Het
Rnase9	G	A	14: 51,276,940 (GRCm39)	P13S	possibly damaging	Het
Saxo5	A	T	8: 3,526,057 (GRCm39)	H70L	probably benign	Het
Scin	C	T	12: 40,174,588 (GRCm39)	C165Y	probably damaging	Het
Senp7	T	C	16: 55,932,000 (GRCm39)	W100R	probably benign	Het
Slc26a2	T	C	18: 61,331,532 (GRCm39)	D633G	probably benign	Het
Slc4a4	C	T	5: 89,283,545 (GRCm39)	P446S	probably damaging	Het
Spag17	T	A	3: 100,002,911 (GRCm39)	C1878*	probably null	Het
Ssc5d	A	G	7: 4,930,575 (GRCm39)	E129G	possibly damaging	Het
Supt6	T	C	11: 78,117,777 (GRCm39)	N480D	probably benign	Het
Tbk1	A	G	10: 121,388,406 (GRCm39)	L590S	probably damaging	Het
Tmem63a	T	A	1: 180,780,539 (GRCm39)		probably null	Het
Tpsg1	G	T	17: 25,592,184 (GRCm39)	G86V	probably damaging	Het
Trio	A	G	15: 27,912,728 (GRCm39)	S109P	unknown	Het
Tsga10	A	T	1: 37,843,974 (GRCm39)		probably null	Het
Ttn	A	T	2: 76,626,107 (GRCm39)	L14984*	probably null	Het
Tyr	T	C	7: 87,133,092 (GRCm39)	T325A	probably benign	Het
U2surp	A	T	9: 95,367,732 (GRCm39)		probably null	Het
Uba6	C	A	5: 86,294,934 (GRCm39)	K368N	probably benign	Het
Upb1	A	G	10: 75,272,035 (GRCm39)	T283A	probably benign	Het
Urb1	CACTTAC	CAC	16: 90,569,461 (GRCm39)		probably benign	Het
Vmn1r31	A	G	6: 58,449,455 (GRCm39)	Y137H	probably damaging	Het
Wdtc1	T	C	4: 133,023,748 (GRCm39)	K541R	probably damaging	Het
Wrn	A	G	8: 33,800,741 (GRCm39)	I624T	possibly damaging	Het
Zfp804b	T	A	5: 6,820,066 (GRCm39)	D999V	possibly damaging	Het
Zmym4	T	A	4: 126,819,588 (GRCm39)	H105L	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
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
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'- GTAGACACAGAGGGATCTAGCC -3'
(R):5'- GGATCATCAAAGGCTTTACAGC -3'

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

Posted On

2019-10-24