Mutagenetix > Incidental Mutation

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

1700052K15Rik, Arp-T2, Arpm2

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.075) question?

Stock #

IGL01778

Quality Score

Status

Chromosome

Chromosomal Location

154750890-154752324 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 154751162 bp (GRCm39)

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]

AlphaFold

Q9D9L5

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: 74,544,204 (GRCm39)	M6I	probably benign	Het
Atp7b	A	T	8: 22,484,844 (GRCm39)	D1404E	probably benign	Het
Cdk5rap1	T	A	2: 154,207,956 (GRCm39)	N156I	probably damaging	Het
Ctsa	T	C	2: 164,676,230 (GRCm39)		probably benign	Het
Depdc1b	T	G	13: 108,498,861 (GRCm39)	N181K	probably benign	Het
Epg5	T	C	18: 78,062,489 (GRCm39)	V1994A	probably damaging	Het
Epyc	T	A	10: 97,517,099 (GRCm39)	C312*	probably null	Het
Erv3	T	A	2: 131,697,877 (GRCm39)	R161*	probably null	Het
Fhdc1	G	A	3: 84,352,042 (GRCm39)	A1061V	possibly damaging	Het
Gfra3	T	C	18: 34,824,644 (GRCm39)	T280A	possibly damaging	Het
Gldn	A	T	9: 54,241,776 (GRCm39)		probably null	Het
Gtf3c4	G	A	2: 28,725,100 (GRCm39)	R211C	probably damaging	Het
Hrob	T	C	11: 102,146,422 (GRCm39)	C233R	probably benign	Het
Hsh2d	A	G	8: 72,947,351 (GRCm39)	D16G	probably damaging	Het
Klk15	T	A	7: 43,588,262 (GRCm39)	M190K	probably damaging	Het
Klri1	A	G	6: 129,694,010 (GRCm39)	S26P	possibly damaging	Het
Krt78	T	A	15: 101,859,402 (GRCm39)	D265V	probably damaging	Het
Lgr5	A	C	10: 115,298,607 (GRCm39)	I355S	probably damaging	Het
Lig3	T	A	11: 82,685,367 (GRCm39)	V595D	probably damaging	Het
Map2k6	A	C	11: 110,403,695 (GRCm39)		probably benign	Het
Mdm4	A	G	1: 132,922,285 (GRCm39)	S286P	probably benign	Het
Ncoa4-ps	T	C	12: 119,226,231 (GRCm39)		noncoding transcript	Het
Or2ak7	A	G	11: 58,575,095 (GRCm39)	Y132C	probably damaging	Het
Pofut1	T	A	2: 153,090,448 (GRCm39)	M114K	probably damaging	Het
Rdh13	C	T	7: 4,433,388 (GRCm39)		probably null	Het
Reg3g	T	A	6: 78,443,816 (GRCm39)	I131F	probably benign	Het
Slc26a4	C	T	12: 31,578,853 (GRCm39)		probably benign	Het
Slc8a2	T	A	7: 15,892,818 (GRCm39)	F827I	probably damaging	Het
Slfn9	A	T	11: 82,878,200 (GRCm39)	C310S	probably damaging	Het
Sypl1	A	G	12: 33,025,641 (GRCm39)	Y235C	probably damaging	Het
Trav7-4	A	T	14: 53,699,098 (GRCm39)	T82S	possibly damaging	Het
Trim28	T	A	7: 12,764,629 (GRCm39)	V782D	probably damaging	Het
Ttn	G	A	2: 76,575,242 (GRCm39)	T25217M	probably damaging	Het
Usp6nl	A	G	2: 6,432,381 (GRCm39)	T260A	possibly damaging	Het
Vmn2r54	A	T	7: 12,366,009 (GRCm39)	N308K	probably benign	Het
Xdh	T	C	17: 74,207,275 (GRCm39)	E986G	probably benign	Het
Zfp770	T	C	2: 114,026,719 (GRCm39)	D450G	probably damaging	Het
Zw10	T	G	9: 48,980,915 (GRCm39)	S438R	probably benign	Het

Other mutations in Actrt2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02323:Actrt2	APN	4	154,751,255 (GRCm39)	missense	probably benign	0.00
R0526:Actrt2	UTSW	4	154,751,869 (GRCm39)	missense	probably damaging	1.00
R1567:Actrt2	UTSW	4	154,751,371 (GRCm39)	missense	possibly damaging	0.55
R2120:Actrt2	UTSW	4	154,751,551 (GRCm39)	missense	probably benign	0.01
R4322:Actrt2	UTSW	4	154,751,701 (GRCm39)	missense	probably damaging	0.99
R4623:Actrt2	UTSW	4	154,751,747 (GRCm39)	missense	probably benign
R4824:Actrt2	UTSW	4	154,751,344 (GRCm39)	missense	probably damaging	1.00
R5253:Actrt2	UTSW	4	154,752,026 (GRCm39)	missense	possibly damaging	0.45
R5880:Actrt2	UTSW	4	154,751,747 (GRCm39)	missense	probably benign
R6026:Actrt2	UTSW	4	154,751,047 (GRCm39)	missense	possibly damaging	0.83
R6763:Actrt2	UTSW	4	154,751,836 (GRCm39)	missense	probably damaging	0.96
R7247:Actrt2	UTSW	4	154,751,880 (GRCm39)	missense	probably benign	0.32
R7502:Actrt2	UTSW	4	154,751,383 (GRCm39)	missense	probably benign
R7896:Actrt2	UTSW	4	154,751,652 (GRCm39)	missense	probably benign	0.00
R8032:Actrt2	UTSW	4	154,751,955 (GRCm39)	missense	probably benign	0.01
R8108:Actrt2	UTSW	4	154,751,493 (GRCm39)	missense	probably benign	0.01
R8794:Actrt2	UTSW	4	154,751,176 (GRCm39)	missense	probably damaging	0.98
R9105:Actrt2	UTSW	4	154,751,677 (GRCm39)	missense	probably damaging	1.00
R9207:Actrt2	UTSW	4	154,751,920 (GRCm39)	missense	probably benign	0.23
Z1176:Actrt2	UTSW	4	154,751,289 (GRCm39)	missense	probably benign	0.01

Posted On

2014-02-04