Mutagenetix > Incidental Mutation

Incidental Mutation 'R0129:Actr2'

60527

Institutional Source

Beutler Lab

Gene Symbol

Actr2

Ensembl Gene

ENSMUSG00000020152

Gene Name

ARP2 actin-related protein 2

Synonyms

4921510D23Rik, Arp2, D6Ertd746e

MMRRC Submission

038414-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.954) question?

Stock #

R0129 (G1)

Quality Score

111

Status

Validated

Chromosome

Chromosomal Location

20012304-20062913 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 20050939 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000000137 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000000137]

AlphaFold

P61161

Predicted Effect

probably benign
Transcript: ENSMUST00000000137

SMART Domains

Protein: ENSMUSP00000000137
Gene: ENSMUSG00000020152

Domain	Start	End	E-Value	Type
ACTIN	6	390	2.78e-208	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132022

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134779

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 97.7%
10x: 92.2%
20x: 74.4%

Validation Efficiency

100% (80/80)

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. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice heterozygous for this mutation exhibit modifies lethality associated with F5 null Tfpi heterozygous mice. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaa2	A	G	18: 74,920,265 (GRCm39)	D31G	probably damaging	Het
Adcy8	A	G	15: 64,618,862 (GRCm39)	C764R	probably benign	Het
Ago4	A	C	4: 126,410,976 (GRCm39)	F171C	possibly damaging	Het
Akt2	T	C	7: 27,336,395 (GRCm39)	F408S	probably damaging	Het
Ankrd24	T	C	10: 81,474,163 (GRCm39)	L26P	probably damaging	Het
Appl1	A	T	14: 26,650,600 (GRCm39)	M524K	probably damaging	Het
Arhgef11	T	A	3: 87,635,370 (GRCm39)	I922N	probably damaging	Het
Atp5pd	T	C	11: 115,308,744 (GRCm39)	E47G	probably damaging	Het
Birc6	A	G	17: 74,835,755 (GRCm39)	D70G	probably benign	Het
Bola2	G	A	7: 126,295,731 (GRCm39)	V56M	probably damaging	Het
Cd300lg	A	G	11: 101,944,918 (GRCm39)		probably null	Het
Cdc42bpb	A	G	12: 111,271,393 (GRCm39)		probably benign	Het
Ceacam20	A	G	7: 19,710,185 (GRCm39)	N403S	probably damaging	Het
Cenpf	T	C	1: 189,391,847 (GRCm39)	M662V	probably benign	Het
Chd3	C	A	11: 69,239,327 (GRCm39)	E1607*	probably null	Het
Chtf18	A	T	17: 25,946,285 (GRCm39)	Y9*	probably null	Het
Clta	A	G	4: 44,032,424 (GRCm39)	N200S	probably benign	Het
Csmd1	G	A	8: 16,129,956 (GRCm39)	S1722F	possibly damaging	Het
Cyria	C	T	12: 12,412,350 (GRCm39)	T204I	probably damaging	Het
Dennd4a	T	C	9: 64,800,576 (GRCm39)	S905P	probably damaging	Het
Dhx57	T	C	17: 80,546,343 (GRCm39)	K1347R	probably damaging	Het
Dmc1	A	T	15: 79,480,441 (GRCm39)		probably benign	Het
Dnhd1	G	T	7: 105,370,131 (GRCm39)	A4519S	probably benign	Het
Dnmbp	A	G	19: 43,838,466 (GRCm39)	C1120R	probably benign	Het
Efs	C	T	14: 55,154,680 (GRCm39)	A427T	probably damaging	Het
Erich6	T	C	3: 58,531,799 (GRCm39)	E399G	probably damaging	Het
Espl1	A	G	15: 102,225,083 (GRCm39)	T1431A	probably benign	Het
Fam184b	A	G	5: 45,690,120 (GRCm39)	S830P	probably damaging	Het
Herc1	T	A	9: 66,355,357 (GRCm39)	C2203S	probably damaging	Het
Itpr1	G	A	6: 108,326,637 (GRCm39)	V120M	probably damaging	Het
Kcnh7	G	A	2: 62,546,503 (GRCm39)	T1026I	probably benign	Het
Kif1b	A	G	4: 149,345,658 (GRCm39)	I394T	probably benign	Het
Ldlrap1	A	C	4: 134,484,733 (GRCm39)	V87G	probably damaging	Het
Lgals12	C	T	19: 7,580,403 (GRCm39)	V155I	probably damaging	Het
Limch1	A	T	5: 67,116,933 (GRCm39)	N116I	probably damaging	Het
Lonp2	C	T	8: 87,361,518 (GRCm39)	R232C	probably damaging	Het
Lrch1	C	A	14: 75,073,186 (GRCm39)	C151F	probably benign	Het
Lrig3	A	G	10: 125,842,812 (GRCm39)	Y579C	probably damaging	Het
Macf1	T	C	4: 123,327,068 (GRCm39)	S4808G	probably damaging	Het
Mapkap1	A	T	2: 34,513,494 (GRCm39)	K501N	probably damaging	Het
Mdc1	G	T	17: 36,165,337 (GRCm39)	R1523L	probably benign	Het
Mlh3	C	T	12: 85,312,914 (GRCm39)		probably benign	Het
Mul1	T	C	4: 138,165,032 (GRCm39)		probably benign	Het
Mybl2	G	A	2: 162,901,411 (GRCm39)		probably benign	Het
Notch1	G	C	2: 26,350,470 (GRCm39)	H2223Q	probably benign	Het
Notch2	C	A	3: 98,053,936 (GRCm39)	L2200M	probably benign	Het
Odad3	G	T	9: 21,904,848 (GRCm39)	R313S	probably damaging	Het
Or10ak8	A	T	4: 118,774,667 (GRCm39)		probably null	Het
Or12k5	G	A	2: 36,895,057 (GRCm39)	R190*	probably null	Het
Or5ae2	T	A	7: 84,506,196 (GRCm39)	F206L	probably benign	Het
Or8a1b	T	C	9: 37,623,236 (GRCm39)	Y113C	probably damaging	Het
Plekhs1	T	C	19: 56,465,722 (GRCm39)		probably null	Het
Ppm1h	G	A	10: 122,777,260 (GRCm39)	G509R	probably damaging	Het
Ppp2r3c	C	T	12: 55,345,207 (GRCm39)	E94K	probably damaging	Het
Ppp2r5e	T	A	12: 75,509,164 (GRCm39)	I372F	probably damaging	Het
Ptprt	G	A	2: 162,119,990 (GRCm39)	T159I	probably benign	Het
Rab20	A	G	8: 11,504,415 (GRCm39)	F95S	probably damaging	Het
Rfc3	A	C	5: 151,574,616 (GRCm39)	M1R	probably null	Het
Skp2	A	G	15: 9,125,280 (GRCm39)	S100P	probably damaging	Het
Smg5	T	C	3: 88,256,540 (GRCm39)	S269P	probably benign	Het
Sspo	A	T	6: 48,432,352 (GRCm39)	T684S	probably benign	Het
Syt3	A	G	7: 44,042,782 (GRCm39)	K355E	probably damaging	Het
Tcp10a	A	T	17: 7,610,903 (GRCm39)	K355N	probably damaging	Het
Tnrc18	A	G	5: 142,750,800 (GRCm39)		probably benign	Het
Tsfm	A	G	10: 126,866,339 (GRCm39)	L74P	probably benign	Het
Ttn	G	C	2: 76,564,609 (GRCm39)	N28509K	probably damaging	Het
Ube2l6	G	A	2: 84,629,252 (GRCm39)	M1I	probably null	Het
Vmn2r80	T	A	10: 79,005,330 (GRCm39)	H322Q	probably damaging	Het
Zkscan8	A	T	13: 21,706,441 (GRCm39)	S212T	probably benign	Het

Other mutations in Actr2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00087:Actr2	APN	11	20,044,370 (GRCm39)	missense	probably benign	0.03
IGL00164:Actr2	APN	11	20,030,015 (GRCm39)	splice site	probably benign
IGL00566:Actr2	APN	11	20,022,487 (GRCm39)	missense	possibly damaging	0.92
IGL00822:Actr2	APN	11	20,044,367 (GRCm39)	missense	probably damaging	1.00
IGL02993:Actr2	APN	11	20,022,514 (GRCm39)	missense	probably damaging	1.00
IGL03330:Actr2	APN	11	20,041,330 (GRCm39)	missense	probably benign	0.01
R0092:Actr2	UTSW	11	20,044,308 (GRCm39)	missense	probably benign	0.00
R0513:Actr2	UTSW	11	20,030,124 (GRCm39)	missense	probably damaging	1.00
R0848:Actr2	UTSW	11	20,022,584 (GRCm39)	missense	probably benign	0.02
R0863:Actr2	UTSW	11	20,030,760 (GRCm39)	missense	probably benign	0.00
R5175:Actr2	UTSW	11	20,030,114 (GRCm39)	missense	probably benign	0.25
R5364:Actr2	UTSW	11	20,050,797 (GRCm39)	intron	probably benign
R6544:Actr2	UTSW	11	20,050,933 (GRCm39)	missense	probably damaging	1.00
R7330:Actr2	UTSW	11	20,022,544 (GRCm39)	missense	probably damaging	1.00
R8340:Actr2	UTSW	11	20,044,435 (GRCm39)	missense	possibly damaging	0.52
R9542:Actr2	UTSW	11	20,044,350 (GRCm39)	missense	probably benign	0.01
R9599:Actr2	UTSW	11	20,030,745 (GRCm39)	missense	probably damaging	1.00
X0021:Actr2	UTSW	11	20,030,702 (GRCm39)	missense	probably damaging	0.99
X0066:Actr2	UTSW	11	20,030,066 (GRCm39)	missense	probably benign	0.05
X0066:Actr2	UTSW	11	20,030,065 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TGAGAGGTTCTGACCCTCCCTTTG -3'
(R):5'- AAGGCACTGGCATCATGGCAAG -3'

Sequencing Primer
(F):5'- ACATTACTTAGTTCAAAGATCACCTC -3'
(R):5'- gcccttgcctccttcctc -3'

Posted On

2013-07-24