Mutagenetix > Incidental Mutation

Incidental Mutation 'R6026:Actrt2'

480026

Institutional Source

Beutler Lab

Gene Symbol

Actrt2

Ensembl Gene

ENSMUSG00000051276

Gene Name

actin-related protein T2

Synonyms

1700052K15Rik, Arp-T2, Arpm2

MMRRC Submission

044198-MU

Accession Numbers

Essential gene?

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

Stock #

R6026 (G1)

Quality Score

137.008

Status

Validated

Chromosome

Chromosomal Location

154750890-154752324 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 154751047 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 363 (D363G)

Ref Sequence

ENSEMBL: ENSMUSP00000050377 (fasta)

Gene Model

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

AlphaFold

Q9D9L5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000060062
AA Change: D363G

PolyPhen 2 Score 0.828 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000050377
Gene: ENSMUSG00000051276
AA Change: D363G

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

Meta Mutation Damage Score

0.4242

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.5%

Validation Efficiency

97% (73/75)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810065E05Rik	A	G	11: 58,316,581 (GRCm39)	D187G	probably benign	Het
4933421I07Rik	A	T	7: 42,095,708 (GRCm39)	M180K	probably benign	Het
Aatk	T	C	11: 119,903,190 (GRCm39)	H345R	possibly damaging	Het
Abcc8	T	C	7: 45,816,424 (GRCm39)	T239A	probably benign	Het
Abcf3	A	G	16: 20,369,320 (GRCm39)	E234G	probably damaging	Het
Adam1a	A	T	5: 121,657,425 (GRCm39)	C623S	probably damaging	Het
Afg3l2	G	T	18: 67,554,329 (GRCm39)	L458M	probably damaging	Het
Ash1l	T	C	3: 88,892,326 (GRCm39)	Y1402H	probably damaging	Het
Barhl2	T	A	5: 106,603,474 (GRCm39)	K228N	probably benign	Het
Blvrb	A	G	7: 27,162,115 (GRCm39)	H153R	probably damaging	Het
Capn9	A	G	8: 125,332,601 (GRCm39)	D480G	probably damaging	Het
Cct3	T	C	3: 88,219,029 (GRCm39)	I182T	possibly damaging	Het
Clasp2	A	G	9: 113,740,646 (GRCm39)	N1208D	probably benign	Het
Col26a1	A	G	5: 136,876,354 (GRCm39)	C89R	probably damaging	Het
Cops4	T	A	5: 100,690,194 (GRCm39)		probably benign	Het
Cpox	T	A	16: 58,491,298 (GRCm39)	W170R	probably damaging	Het
Ddx27	A	G	2: 166,875,560 (GRCm39)	K656E	probably benign	Het
Eif4e	T	C	3: 138,256,661 (GRCm39)	I66T	probably damaging	Het
Ercc3	T	C	18: 32,378,974 (GRCm39)		probably null	Het
Esp38	G	A	17: 40,266,032 (GRCm39)	C47Y	probably damaging	Het
Fancd2	T	C	6: 113,528,731 (GRCm39)	V380A	possibly damaging	Het
Fbxw7	T	A	3: 84,859,948 (GRCm39)		probably null	Het
Fryl	T	G	5: 73,257,340 (GRCm39)	R736S	probably benign	Het
Gad2	G	A	2: 22,513,748 (GRCm39)	V62M	probably benign	Het
Gigyf2	A	G	1: 87,368,454 (GRCm39)	T1045A	probably damaging	Het
Gm13090	T	A	4: 151,175,157 (GRCm39)	L78*	probably null	Het
Gm19410	G	A	8: 36,279,580 (GRCm39)	S1815N	probably benign	Het
Gm28051	A	T	12: 102,686,444 (GRCm39)	L72Q	unknown	Het
Gm44511	T	C	6: 128,797,240 (GRCm39)	T83A	possibly damaging	Het
Grk2	C	T	19: 4,340,811 (GRCm39)	V246I	probably damaging	Het
Grm7	C	T	6: 111,478,500 (GRCm39)	Q62*	probably null	Het
Gsdmc3	T	A	15: 63,738,600 (GRCm39)	E154V	probably damaging	Het
Gstz1	A	C	12: 87,206,948 (GRCm39)	Q114P	probably damaging	Het
Hax1	GTCATCATCATCATCATC	GTCATCATCATCATCATCATC	3: 89,905,247 (GRCm39)		probably benign	Het
Hhip	A	T	8: 80,699,069 (GRCm39)	C666S	probably damaging	Het
Hif1a	A	C	12: 73,979,055 (GRCm39)	H193P	probably damaging	Het
Hyal2	A	G	9: 107,449,398 (GRCm39)	T385A	probably benign	Het
Ihh	T	C	1: 74,985,886 (GRCm39)	T200A	probably benign	Het
Iqgap3	T	A	3: 87,997,478 (GRCm39)	V218E	probably damaging	Het
Lct	A	G	1: 128,227,755 (GRCm39)	I1246T	probably benign	Het
Lmo7	T	C	14: 102,118,426 (GRCm39)	V217A	probably benign	Het
Lrp1	C	T	10: 127,409,272 (GRCm39)	D1616N	probably damaging	Het
Lrrfip2	A	T	9: 111,043,239 (GRCm39)	T165S	probably damaging	Het
Morc2b	A	G	17: 33,356,957 (GRCm39)	Y272H	possibly damaging	Het
Muc16	A	G	9: 18,571,154 (GRCm39)	M455T	unknown	Het
Ncapg2	A	T	12: 116,406,641 (GRCm39)	D939V	possibly damaging	Het
Ncbp3	T	C	11: 72,958,548 (GRCm39)	V236A	probably benign	Het
Obscn	T	A	11: 58,957,916 (GRCm39)	T3595S	probably damaging	Het
Odf2l	T	C	3: 144,854,797 (GRCm39)	S545P	possibly damaging	Het
Or3a1	T	A	11: 74,225,914 (GRCm39)	I48F	probably damaging	Het
Or8b36	ATTGCTGTTT	ATTGCTGTTTGCTGTTT	9: 37,937,836 (GRCm39)		probably null	Het
Pdzrn3	A	C	6: 101,339,105 (GRCm39)	C269G	probably benign	Het
Pear1	T	A	3: 87,664,220 (GRCm39)	N278Y	probably damaging	Het
Phb1	C	T	11: 95,562,245 (GRCm39)	R41*	probably null	Het
Pikfyve	T	C	1: 65,311,856 (GRCm39)	V2031A	probably damaging	Het
Plxna2	A	G	1: 194,482,122 (GRCm39)	I1465V	probably damaging	Het
Ppp6r2	A	G	15: 89,167,113 (GRCm39)	N776S	probably benign	Het
Prkce	A	T	17: 86,800,658 (GRCm39)	E358V	probably benign	Het
Prl5a1	A	T	13: 28,335,247 (GRCm39)	I219F	probably benign	Het
Prss3	T	C	6: 41,354,488 (GRCm39)		probably null	Het
Ptprc	A	T	1: 137,998,987 (GRCm39)	M858K	probably damaging	Het
Retreg3	T	C	11: 100,997,226 (GRCm39)	T85A	probably damaging	Het
Rfc2	T	A	5: 134,624,185 (GRCm39)	C265S	probably damaging	Het
Smarcd1	G	T	15: 99,603,619 (GRCm39)	V256L	probably damaging	Het
Stat5a	T	C	11: 100,771,142 (GRCm39)	F574L	probably damaging	Het
Tcirg1	T	C	19: 3,947,487 (GRCm39)	H624R	probably benign	Het
Tcstv1a	C	A	13: 120,355,987 (GRCm39)		probably benign	Het
Tenm2	C	T	11: 35,963,556 (GRCm39)		probably null	Het
Tomm40	A	G	7: 19,444,889 (GRCm39)	V164A	probably benign	Het
Txnl4a	T	C	18: 80,250,482 (GRCm39)	V26A	probably damaging	Het
Ugt2a3	A	T	5: 87,484,336 (GRCm39)	F229L	probably benign	Het
Utp20	T	C	10: 88,604,541 (GRCm39)	T1785A	probably benign	Het
Vmn1r22	T	A	6: 57,877,390 (GRCm39)	I196L	probably benign	Het
Zfp652	T	G	11: 95,640,788 (GRCm39)	C238G	possibly damaging	Het

Other mutations in Actrt2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01778:Actrt2	APN	4	154,751,162 (GRCm39)	missense	probably benign	0.01
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
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

Predicted Primers

PCR Primer
(F):5'- AAAGAATGGAGTCTGCCACG -3'
(R):5'- ACAGAAGACACTCTTTGGGG -3'

Sequencing Primer
(F):5'- AGTCTGCCACGGTCAAGTGTATC -3'
(R):5'- AAGACACTCTTTGGGGAGATTG -3'

Posted On

2017-06-26