Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01778:Actrt2'

153767

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Actrt2

Ensembl Gene

ENSMUSG00000051276

Gene Name

actin-related protein T2

Synonyms

Arpm2, 1700052K15Rik, Arp-T2

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.123) question?

Stock #

IGL01778

Quality Score

Status

Chromosome

Chromosomal Location

154666433-154667867 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 154666705 bp

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 325 (K325E)

Ref Sequence

ENSEMBL: ENSMUSP00000050377 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000060062]

Predicted Effect

probably benign
Transcript: ENSMUST00000060062
AA Change: K325E

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000050377
Gene: ENSMUSG00000051276
AA Change: K325E

Domain	Start	End	E-Value	Type
ACTIN	9	377	1.01e-146	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this intronless gene belongs to the actin family. Studies have shown that this protein may be involved in cytoskeletal organization similar to other cytoplasmic actin-related protein (ARP) subfamily members. Antibody raised against the human protein has been used to detect the protein by immunoblotting and immunofluorescence microscopy, demonstrating its specific synthesis in the testis, late in spermatid differentiation, and its localization in the calyx. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arc	C	T	15: 74,672,355	M6I	probably benign	Het
Atp7b	A	T	8: 21,994,828	D1404E	probably benign	Het
BC030867	T	C	11: 102,255,596	C233R	probably benign	Het
Cdk5rap1	T	A	2: 154,366,036	N156I	probably damaging	Het
Ctsa	T	C	2: 164,834,310		probably benign	Het
Depdc1b	T	G	13: 108,362,327	N181K	probably benign	Het
Epg5	T	C	18: 78,019,274	V1994A	probably damaging	Het
Epyc	T	A	10: 97,681,237	C312*	probably null	Het
Erv3	T	A	2: 131,855,957	R161*	probably null	Het
Fhdc1	G	A	3: 84,444,735	A1061V	possibly damaging	Het
Gfra3	T	C	18: 34,691,591	T280A	possibly damaging	Het
Gldn	A	T	9: 54,334,492		probably null	Het
Gm6768	T	C	12: 119,262,496		noncoding transcript	Het
Gtf3c4	G	A	2: 28,835,088	R211C	probably damaging	Het
Hsh2d	A	G	8: 72,193,507	D16G	probably damaging	Het
Klk15	T	A	7: 43,938,838	M190K	probably damaging	Het
Klri1	A	G	6: 129,717,047	S26P	possibly damaging	Het
Krt78	T	A	15: 101,950,967	D265V	probably damaging	Het
Lgr5	A	C	10: 115,462,702	I355S	probably damaging	Het
Lig3	T	A	11: 82,794,541	V595D	probably damaging	Het
Map2k6	A	C	11: 110,512,869		probably benign	Het
Mdm4	A	G	1: 132,994,547	S286P	probably benign	Het
Olfr320	A	G	11: 58,684,269	Y132C	probably damaging	Het
Pofut1	T	A	2: 153,248,528	M114K	probably damaging	Het
Rdh13	C	T	7: 4,430,389		probably null	Het
Reg3g	T	A	6: 78,466,833	I131F	probably benign	Het
Slc26a4	C	T	12: 31,528,854		probably benign	Het
Slc8a2	T	A	7: 16,158,893	F827I	probably damaging	Het
Slfn9	A	T	11: 82,987,374	C310S	probably damaging	Het
Sypl	A	G	12: 32,975,642	Y235C	probably damaging	Het
Trav7-4	A	T	14: 53,461,641	T82S	possibly damaging	Het
Trim28	T	A	7: 13,030,702	V782D	probably damaging	Het
Ttn	G	A	2: 76,744,898	T25217M	probably damaging	Het
Usp6nl	A	G	2: 6,427,570	T260A	possibly damaging	Het
Vmn2r54	A	T	7: 12,632,082	N308K	probably benign	Het
Xdh	T	C	17: 73,900,280	E986G	probably benign	Het
Zfp770	T	C	2: 114,196,238	D450G	probably damaging	Het
Zw10	T	G	9: 49,069,615	S438R	probably benign	Het

Other mutations in Actrt2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02323:Actrt2	APN	4	154666798	missense	probably benign	0.00
R0526:Actrt2	UTSW	4	154667412	missense	probably damaging	1.00
R1567:Actrt2	UTSW	4	154666914	missense	possibly damaging	0.55
R2120:Actrt2	UTSW	4	154667094	missense	probably benign	0.01
R4322:Actrt2	UTSW	4	154667244	missense	probably damaging	0.99
R4623:Actrt2	UTSW	4	154667290	missense	probably benign
R4824:Actrt2	UTSW	4	154666887	missense	probably damaging	1.00
R5253:Actrt2	UTSW	4	154667569	missense	possibly damaging	0.45
R5880:Actrt2	UTSW	4	154667290	missense	probably benign
R6026:Actrt2	UTSW	4	154666590	missense	possibly damaging	0.83
R6763:Actrt2	UTSW	4	154667379	missense	probably damaging	0.96
R7247:Actrt2	UTSW	4	154667423	missense	probably benign	0.32
R7502:Actrt2	UTSW	4	154666926	missense	probably benign
R7896:Actrt2	UTSW	4	154667195	missense	probably benign	0.00
R8032:Actrt2	UTSW	4	154667498	missense	probably benign	0.01
R8108:Actrt2	UTSW	4	154667036	missense	probably benign	0.01
Z1176:Actrt2	UTSW	4	154666832	missense	probably benign	0.01

Posted On

2014-02-04