Mutagenetix > Incidental Mutation

Incidental Mutation 'R6089:Actr3'

484631

Institutional Source

Beutler Lab

Gene Symbol

Actr3

Ensembl Gene

ENSMUSG00000026341

Gene Name

ARP3 actin-related protein 3

Synonyms

Arp3, 1200003A09Rik

MMRRC Submission

044246-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6089 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

125320642-125363464 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 125335132 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 95 (V95A)

Ref Sequence

ENSEMBL: ENSMUSP00000139674 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027579] [ENSMUST00000178474] [ENSMUST00000185280] [ENSMUST00000187460] [ENSMUST00000188497] [ENSMUST00000191004] [ENSMUST00000191544] [ENSMUST00000191578]

AlphaFold

Q99JY9

Predicted Effect

probably damaging
Transcript: ENSMUST00000027579
AA Change: V146A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000027579
Gene: ENSMUSG00000026341
AA Change: V146A

Domain	Start	End	E-Value	Type
ACTIN	5	413	1.62e-186	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000178474
AA Change: V146A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000137503
Gene: ENSMUSG00000026341
AA Change: V146A

Domain	Start	End	E-Value	Type
ACTIN	5	413	1.62e-186	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000185280
AA Change: V58A

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000140082
Gene: ENSMUSG00000026341
AA Change: V58A

Domain	Start	End	E-Value	Type
Pfam:Actin	1	70	2.7e-17	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000187460
AA Change: V146A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000140000
Gene: ENSMUSG00000026341
AA Change: V146A

Domain	Start	End	E-Value	Type
ACTIN	5	161	3.4e-7	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000188497
AA Change: V146A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000140535
Gene: ENSMUSG00000026341
AA Change: V146A

Domain	Start	End	E-Value	Type
ACTIN	5	216	7.6e-25	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000189192

Predicted Effect

probably damaging
Transcript: ENSMUST00000191004
AA Change: V95A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000140953
Gene: ENSMUSG00000026341
AA Change: V95A

Domain	Start	End	E-Value	Type
Pfam:Actin	2	129	2.1e-32	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000191544
AA Change: V95A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000139674
Gene: ENSMUSG00000026341
AA Change: V95A

Domain	Start	End	E-Value	Type
ACTIN	1	155	2.8e-9	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000191578

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.8%
20x: 93.3%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The specific function of this gene has not yet been determined; however, the protein it encodes is known to be a major constituent of the ARP2/3 complex. This complex is located at the cell surface and is essential to cell shape and motility through lamellipodial actin assembly and protrusion. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Mar 2013]
PHENOTYPE: Mice homozygous for a null allele die prior to E4.5 and exhibit abnormal embryogenesis. [provided by MGI curators]

Allele List at MGI

All alleles(12) : Gene trapped(12)

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd40	A	T	11: 94,224,751 (GRCm39)	K53N	probably damaging	Het
Ash1l	C	T	3: 88,960,450 (GRCm39)	Q2338*	probably null	Het
Astn2	A	G	4: 65,712,810 (GRCm39)	F610S	probably damaging	Het
Baz2a	TCTCCTC	TCTC	10: 127,950,511 (GRCm39)		probably benign	Het
Btbd8	C	T	5: 107,654,895 (GRCm39)	A386V	probably damaging	Het
Calm4	A	T	13: 3,887,874 (GRCm39)		probably benign	Het
Card10	T	C	15: 78,686,614 (GRCm39)	T68A	probably benign	Het
Cars2	A	G	8: 11,580,301 (GRCm39)	M245T	probably damaging	Het
Cat	C	A	2: 103,303,296 (GRCm39)	L160F	probably null	Het
Cers5	G	T	15: 99,638,883 (GRCm39)	T144K	probably benign	Het
Cyp3a13	T	A	5: 137,908,215 (GRCm39)	L211F	probably benign	Het
Defb4	A	T	8: 19,251,321 (GRCm39)	R63*	probably null	Het
Dnah14	G	T	1: 181,577,719 (GRCm39)	W3012L	probably damaging	Het
Dusp18	A	G	11: 3,847,555 (GRCm39)	T182A	probably benign	Het
Dzip1l	C	A	9: 99,524,737 (GRCm39)	T286K	possibly damaging	Het
Eif2ak3	A	T	6: 70,873,918 (GRCm39)	T944S	possibly damaging	Het
Fbn1	A	T	2: 125,163,145 (GRCm39)	I2119N	possibly damaging	Het
Gabbr2	A	G	4: 46,846,448 (GRCm39)	S154P	probably damaging	Het
Gm15440	A	T	13: 51,845,437 (GRCm39)	H107Q	unknown	Het
Grm2	G	A	9: 106,531,090 (GRCm39)	P133L	probably damaging	Het
Gsdme	A	G	6: 50,228,285 (GRCm39)	V61A	probably damaging	Het
Gtpbp1	A	G	15: 79,591,198 (GRCm39)	T23A	probably benign	Het
Helz	A	T	11: 107,485,963 (GRCm39)		probably null	Het
Herc1	A	C	9: 66,352,814 (GRCm39)	H2100P	probably damaging	Het
Hjurp	GT	GTT	1: 88,194,246 (GRCm39)		probably null	Het
Ifngr1	T	C	10: 19,482,048 (GRCm39)	S213P	probably benign	Het
Itgb7	T	C	15: 102,125,721 (GRCm39)	D636G	probably benign	Het
Mre11a	G	A	9: 14,730,760 (GRCm39)	D491N	probably benign	Het
Muc16	A	G	9: 18,554,548 (GRCm39)	L3915P	unknown	Het
Myh1	T	A	11: 67,092,993 (GRCm39)		probably null	Het
Myh1	T	G	11: 67,111,613 (GRCm39)		probably null	Het
Myh7b	C	T	2: 155,464,409 (GRCm39)	T608M	probably damaging	Het
Myof	T	C	19: 37,955,508 (GRCm39)	K23E	probably benign	Het
Nacad	A	G	11: 6,551,331 (GRCm39)	V620A	probably benign	Het
Pbrm1	T	C	14: 30,809,542 (GRCm39)	Y1121H	probably damaging	Het
Pcdha9	T	C	18: 37,131,551 (GRCm39)	F207L	probably benign	Het
Pcdhb10	T	C	18: 37,546,679 (GRCm39)	V585A	possibly damaging	Het
Pigg	A	T	5: 108,489,788 (GRCm39)	M798L	probably benign	Het
Poc5	G	T	13: 96,533,179 (GRCm39)	M102I	probably damaging	Het
Ppp2r3d	T	A	9: 101,088,835 (GRCm39)	Q496L	probably benign	Het
Ptprf	A	G	4: 118,068,281 (GRCm39)	Y1752H	probably damaging	Het
Ptpru	G	C	4: 131,499,941 (GRCm39)	S1244R	possibly damaging	Het
Rnf213	A	G	11: 119,307,385 (GRCm39)	K682E	probably benign	Het
Rtp3	T	C	9: 110,816,041 (GRCm39)	D170G	probably benign	Het
Sall4	T	C	2: 168,597,406 (GRCm39)	D478G	possibly damaging	Het
Scai	A	T	2: 38,973,566 (GRCm39)	Y58*	probably null	Het
Simc1	G	A	13: 54,676,303 (GRCm39)	V1007M	probably benign	Het
Tcf20	G	T	15: 82,737,409 (GRCm39)	D1347E	probably benign	Het
Tdo2	T	C	3: 81,870,035 (GRCm39)	Y279C	probably damaging	Het
Trdn	C	T	10: 33,340,571 (GRCm39)	P602S	probably benign	Het
Txndc5	A	T	13: 38,707,392 (GRCm39)	M1K	probably null	Het
Ubr2	A	C	17: 47,293,218 (GRCm39)	M356R	possibly damaging	Het
Uqcrc2	A	T	7: 120,253,232 (GRCm39)	D332V	probably damaging	Het
Usp48	T	C	4: 137,333,129 (GRCm39)	F108L	probably damaging	Het
Vill	A	G	9: 118,886,867 (GRCm39)	N4S	probably benign	Het
Vmn1r11	T	C	6: 57,114,645 (GRCm39)	V103A	possibly damaging	Het
Vmn2r98	A	G	17: 19,286,336 (GRCm39)	D278G	probably benign	Het
Vps35l	T	G	7: 118,345,658 (GRCm39)	S59A	possibly damaging	Het
Wfdc15a	A	T	2: 164,041,586 (GRCm39)	L79*	probably null	Het
Xxylt1	C	T	16: 30,899,799 (GRCm39)	V119M	probably damaging	Het
Zfp26	G	T	9: 20,348,989 (GRCm39)	A525D	probably damaging	Het
Zgrf1	G	A	3: 127,389,642 (GRCm39)	G396D	probably damaging	Het
Zkscan16	A	G	4: 58,948,889 (GRCm39)	D148G	possibly damaging	Het
Zscan26	G	T	13: 21,632,499 (GRCm39)	S77R	probably damaging	Het

Other mutations in Actr3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00264:Actr3	APN	1	125,324,966 (GRCm39)	missense	probably benign	0.00
IGL00574:Actr3	APN	1	125,339,011 (GRCm39)	missense	probably damaging	1.00
IGL00715:Actr3	APN	1	125,322,813 (GRCm39)	missense	probably damaging	0.96
IGL01139:Actr3	APN	1	125,333,622 (GRCm39)	missense	probably damaging	1.00
IGL01897:Actr3	APN	1	125,346,025 (GRCm39)	missense	possibly damaging	0.54
P0023:Actr3	UTSW	1	125,322,803 (GRCm39)	critical splice donor site	probably null
R0217:Actr3	UTSW	1	125,335,150 (GRCm39)	splice site	probably benign
R0660:Actr3	UTSW	1	125,336,304 (GRCm39)	missense	probably benign	0.40
R1494:Actr3	UTSW	1	125,344,018 (GRCm39)	missense	probably benign	0.06
R1582:Actr3	UTSW	1	125,333,662 (GRCm39)	missense	probably benign	0.01
R1589:Actr3	UTSW	1	125,336,300 (GRCm39)	missense	probably damaging	1.00
R3432:Actr3	UTSW	1	125,321,776 (GRCm39)	missense	probably damaging	1.00
R5810:Actr3	UTSW	1	125,344,116 (GRCm39)	intron	probably benign
R6276:Actr3	UTSW	1	125,322,874 (GRCm39)	missense	probably benign
R7120:Actr3	UTSW	1	125,331,169 (GRCm39)	nonsense	probably null
R9533:Actr3	UTSW	1	125,339,048 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AGTCAGTGATGGTGGTAGCC -3'
(R):5'- CACTCTTGCTTGTGGCTCTAGG -3'

Sequencing Primer
(F):5'- AGAGCTTCCAGTCTTGTAAAGGTCC -3'
(R):5'- GGAAGAGAGCGTTCCTTTTAAACTC -3'

Posted On

2017-08-16