Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00087:Actr2'

1194

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Actr2

Ensembl Gene

ENSMUSG00000020152

Gene Name

ARP2 actin-related protein 2

Synonyms

4921510D23Rik, D6Ertd746e, Arp2

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.951) question?

Stock #

IGL00087

Quality Score

Status

Chromosome

Chromosomal Location

20062304-20112913 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 20094370 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 79 (V79L)

Ref Sequence

ENSEMBL: ENSMUSP00000000137 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000000137
AA Change: V79L

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000000137
Gene: ENSMUSG00000020152
AA Change: V79L

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132022

Coding Region Coverage

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. 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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930432M17Rik	C	A	3: 121,679,633		probably benign	Het
4930572O03Rik	C	A	5: 15,656,886		probably benign	Het
Ankrd36	A	C	11: 5,620,131	Y533S	probably benign	Het
Btnl1	A	T	17: 34,381,117	D198V	probably damaging	Het
Carmil2	T	A	8: 105,691,406	I684N	probably benign	Het
Ccdc129	T	A	6: 55,968,037	L581Q	possibly damaging	Het
Cdk17	T	A	10: 93,226,771	V257D	probably damaging	Het
Ctsj	T	G	13: 61,001,418	S271R	possibly damaging	Het
Cul9	T	A	17: 46,525,709	Q1130L	probably damaging	Het
Daam1	G	T	12: 71,942,219	S131I	unknown	Het
Dab1	G	A	4: 104,678,810	V139M	probably damaging	Het
Dab1	A	T	4: 104,678,753	I120F	possibly damaging	Het
Dnah2	A	G	11: 69,492,672	V1142A	possibly damaging	Het
Dsg1b	C	T	18: 20,396,476	T326I	probably damaging	Het
Eif3k	A	C	7: 28,974,676		probably benign	Het
Fam76b	T	C	9: 13,836,884	V3A	possibly damaging	Het
Fitm2	A	G	2: 163,469,792	V167A	probably benign	Het
Gfap	T	A	11: 102,888,718	I418F	possibly damaging	Het
Gm8857	C	T	5: 10,947,838		probably benign	Het
Grm5	T	C	7: 88,130,781	V1143A	probably benign	Het
Itpr2	A	G	6: 146,397,012	I317T	probably damaging	Het
Kcnn2	A	C	18: 45,592,236	R266S	probably damaging	Het
Kntc1	T	A	5: 123,790,159	S1240T	probably benign	Het
Lmnb2	T	C	10: 80,904,037	D490G	possibly damaging	Het
Muc4	G	A	16: 32,754,086	G1321R	probably benign	Het
Olfr401	A	T	11: 74,121,879	I197F	probably benign	Het
Pax9	A	G	12: 56,700,075	N232S	probably benign	Het
Pdcd6ip	A	G	9: 113,697,518	S108P	possibly damaging	Het
Pitpnc1	T	C	11: 107,212,643	E210G	possibly damaging	Het
Prdm10	T	C	9: 31,360,812		probably benign	Het
Prl4a1	G	A	13: 28,021,460	G136E	probably damaging	Het
Pstpip2	A	G	18: 77,874,294	S255G	probably benign	Het
Rimbp3	T	G	16: 17,209,743	S344A	probably benign	Het
Rint1	A	G	5: 23,794,431	T73A	probably benign	Het
Rnf145	T	C	11: 44,555,212	V291A	possibly damaging	Het
Rrm1	T	A	7: 102,454,507	L221*	probably null	Het
Scn11a	A	G	9: 119,770,506	L1114P	probably benign	Het
Slc44a4	A	G	17: 34,930,240		probably benign	Het
Sorl1	A	C	9: 41,974,094	N2070K	probably damaging	Het
Spaca7	C	T	8: 12,580,941		probably benign	Het
Srsf6	G	T	2: 162,931,707	V13F	probably damaging	Het
Stab1	G	T	14: 31,161,357	T336N	probably benign	Het
Strbp	A	G	2: 37,586,504		probably benign	Het
Tbc1d4	A	G	14: 101,608,112	F117L	probably damaging	Het
Tcf20	A	G	15: 82,854,895	V785A	probably damaging	Het
Ticrr	A	G	7: 79,677,283	K580E	probably damaging	Het
Ubr4	A	T	4: 139,465,322	E4225D	possibly damaging	Het
Uck1	A	T	2: 32,259,669	V66D	probably damaging	Het
Vmn2r25	A	G	6: 123,853,171	F7S	probably benign	Het
Zan	C	T	5: 137,387,820		probably null	Het
Zfp819	T	A	7: 43,611,979		probably benign	Het

Other mutations in Actr2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00164:Actr2	APN	11	20080015	splice site	probably benign
IGL00566:Actr2	APN	11	20072487	missense	possibly damaging	0.92
IGL00822:Actr2	APN	11	20094367	missense	probably damaging	1.00
IGL02993:Actr2	APN	11	20072514	missense	probably damaging	1.00
IGL03330:Actr2	APN	11	20091330	missense	probably benign	0.01
R0092:Actr2	UTSW	11	20094308	missense	probably benign	0.00
R0129:Actr2	UTSW	11	20100939	splice site	probably benign
R0513:Actr2	UTSW	11	20080124	missense	probably damaging	1.00
R0848:Actr2	UTSW	11	20072584	missense	probably benign	0.02
R0863:Actr2	UTSW	11	20080760	missense	probably benign	0.00
R5175:Actr2	UTSW	11	20080114	missense	probably benign	0.25
R5364:Actr2	UTSW	11	20100797	intron	probably benign
R6544:Actr2	UTSW	11	20100933	missense	probably damaging	1.00
R7330:Actr2	UTSW	11	20072544	missense	probably damaging	1.00
R8340:Actr2	UTSW	11	20094435	missense	possibly damaging	0.52
X0021:Actr2	UTSW	11	20080702	missense	probably damaging	0.99
X0066:Actr2	UTSW	11	20080065	missense	probably benign	0.00
X0066:Actr2	UTSW	11	20080066	missense	probably benign	0.05

Posted On

2011-07-12