Mutagenetix > Incidental Mutation

Incidental Mutation 'R4623:Actrt2'

346315

Institutional Source

Beutler Lab

Gene Symbol

Actrt2

Ensembl Gene

ENSMUSG00000051276

Gene Name

actin-related protein T2

Synonyms

1700052K15Rik, Arp-T2, Arpm2

MMRRC Submission

041888-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.067) question?

Stock #

R4623 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

154750890-154752324 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 154751747 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 130 (T130A)

Ref Sequence

ENSEMBL: ENSMUSP00000050377 (fasta)

Gene Model

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

AlphaFold

Q9D9L5

Predicted Effect

probably benign
Transcript: ENSMUST00000060062
AA Change: T130A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000050377
Gene: ENSMUSG00000051276
AA Change: T130A

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.8%

Validation Efficiency

99% (88/89)

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700034J04Rik	T	C	12: 11,272,141 (GRCm39)		noncoding transcript	Het
A930003A15Rik	C	T	16: 19,702,487 (GRCm39)		noncoding transcript	Het
Abca13	A	G	11: 9,259,130 (GRCm39)	Y2952C	probably damaging	Het
Adamts7	T	A	9: 90,068,515 (GRCm39)	D475E	probably benign	Het
Adgrf5	A	G	17: 43,761,874 (GRCm39)	S1190G	probably benign	Het
Adgrg6	A	T	10: 14,317,243 (GRCm39)	C526S	probably damaging	Het
Aldoc	T	C	11: 78,215,947 (GRCm39)	V151A	probably damaging	Het
Arsj	A	T	3: 126,158,445 (GRCm39)	E8V	probably benign	Het
Asph	T	C	4: 9,622,005 (GRCm39)	K167E	possibly damaging	Het
Auts2	G	A	5: 131,469,221 (GRCm39)	P475S	probably benign	Het
C1d	A	G	11: 17,212,742 (GRCm39)	D29G	possibly damaging	Het
Calb1	T	A	4: 15,895,721 (GRCm39)		probably benign	Het
Ceacam15	A	T	7: 16,407,391 (GRCm39)	F42Y	probably damaging	Het
Cpm	A	G	10: 117,506,202 (GRCm39)	N188D	possibly damaging	Het
Cts6	A	T	13: 61,349,974 (GRCm39)	Y36N	possibly damaging	Het
Cux1	T	C	5: 136,337,154 (GRCm39)	K657R	probably damaging	Het
Cyp2a22	G	T	7: 26,632,916 (GRCm39)	P429T	probably damaging	Het
Dipk2a	T	C	9: 94,402,451 (GRCm39)	N404D	possibly damaging	Het
Dock3	T	C	9: 106,939,244 (GRCm39)	E168G	possibly damaging	Het
Dot1l	A	G	10: 80,617,984 (GRCm39)	N324S	probably benign	Het
Dusp13b	A	C	14: 21,793,546 (GRCm39)		probably benign	Het
Eif4g1	T	A	16: 20,500,095 (GRCm39)		probably benign	Het
Fan1	G	T	7: 64,023,301 (GRCm39)	Y121*	probably null	Het
Foxn4	T	C	5: 114,398,991 (GRCm39)	E80G	possibly damaging	Het
Gal3st2c	C	A	1: 93,937,178 (GRCm39)	H374Q	possibly damaging	Het
Gm973	A	T	1: 59,595,435 (GRCm39)	I409F	probably damaging	Het
Gpr18	T	A	14: 122,149,579 (GRCm39)	T149S	probably damaging	Het
Gsr	A	G	8: 34,170,333 (GRCm39)	E206G	probably damaging	Het
Hal	A	G	10: 93,343,301 (GRCm39)	H515R	probably damaging	Het
Heatr5b	A	G	17: 79,102,548 (GRCm39)	S1277P	possibly damaging	Het
Hmcn2	A	G	2: 31,286,722 (GRCm39)	E2125G	probably damaging	Het
Ikzf4	A	G	10: 128,476,988 (GRCm39)	C108R	probably damaging	Het
Kcnh2	A	G	5: 24,553,440 (GRCm39)	V59A	probably benign	Het
Khdrbs1	A	G	4: 129,614,635 (GRCm39)	V306A	probably benign	Het
Kif11	A	T	19: 37,398,195 (GRCm39)	I674L	probably benign	Het
Lrp1b	A	T	2: 41,136,033 (GRCm39)	C1646S	probably damaging	Het
Ltbp2	A	G	12: 84,856,122 (GRCm39)	I707T	probably damaging	Het
Macf1	A	G	4: 123,266,141 (GRCm39)		probably null	Het
Mib1	C	A	18: 10,808,086 (GRCm39)	N944K	probably benign	Het
Mical3	C	A	6: 120,938,586 (GRCm39)	E262*	probably null	Het
Mms22l	C	T	4: 24,502,792 (GRCm39)	Q55*	probably null	Het
Mplkipl1	C	T	19: 61,164,364 (GRCm39)	G24R	unknown	Het
Mrps11	T	C	7: 78,441,689 (GRCm39)		probably null	Het
Myh8	A	G	11: 67,177,084 (GRCm39)	E412G	probably damaging	Het
Myo9a	T	A	9: 59,778,355 (GRCm39)	D1370E	probably benign	Het
Ncapd2	A	G	6: 125,150,572 (GRCm39)	V843A	probably benign	Het
Nell1	A	G	7: 49,770,310 (GRCm39)	E123G	possibly damaging	Het
Nkd1	A	G	8: 89,316,383 (GRCm39)	D213G	probably benign	Het
Nlrp1b	T	C	11: 71,052,669 (GRCm39)	T920A	probably benign	Het
Or5k8	A	T	16: 58,644,469 (GRCm39)	I201N	possibly damaging	Het
Or6c208	G	A	10: 129,223,915 (GRCm39)	V138M	probably benign	Het
Or8k40	T	A	2: 86,584,906 (GRCm39)	M59L	possibly damaging	Het
Pde8b	C	T	13: 95,178,447 (GRCm39)	A566T	possibly damaging	Het
Pds5b	T	A	5: 150,724,066 (GRCm39)	S1214R	probably benign	Het
Pld1	T	C	3: 28,083,393 (GRCm39)	I171T	probably benign	Het
Plekha5	T	A	6: 140,496,912 (GRCm39)	V154E	probably damaging	Het
Plxna2	A	T	1: 194,494,458 (GRCm39)	I1892L	probably benign	Het
Ppp1r16b	A	G	2: 158,603,383 (GRCm39)	Y436C	possibly damaging	Het
Proc	T	A	18: 32,260,526 (GRCm39)	T200S	probably benign	Het
Psap	T	G	10: 60,136,630 (GRCm39)	C536W	probably damaging	Het
Ptger2	G	A	14: 45,226,471 (GRCm39)	R17H	possibly damaging	Het
Rab42	A	G	4: 132,030,504 (GRCm39)	F49L	possibly damaging	Het
Racgap1	C	A	15: 99,524,087 (GRCm39)	S440I	probably benign	Het
Rdh10	G	A	1: 16,201,287 (GRCm39)		probably benign	Het
Rnft2	T	A	5: 118,370,471 (GRCm39)	S244C	probably damaging	Het
Sftpc	T	C	14: 70,759,718 (GRCm39)		probably null	Het
Shcbp1	A	C	8: 4,789,178 (GRCm39)	V547G	probably damaging	Het
Slc6a13	T	C	6: 121,302,104 (GRCm39)	S229P	probably damaging	Het
Soat2	A	T	15: 102,066,144 (GRCm39)		probably benign	Het
Swap70	A	G	7: 109,867,079 (GRCm39)	K294E	probably benign	Het
Tcim	C	A	8: 24,928,725 (GRCm39)	R63L	probably damaging	Het
Tek	G	A	4: 94,751,898 (GRCm39)	V1013I	probably damaging	Het
Tg	T	A	15: 66,607,120 (GRCm39)	M219K	probably benign	Het
Tie1	A	G	4: 118,343,808 (GRCm39)	S45P	possibly damaging	Het
Tmem59	A	T	4: 107,047,915 (GRCm39)		probably benign	Het
Togaram1	A	T	12: 65,029,224 (GRCm39)	E882D	possibly damaging	Het
Tram1l1	T	A	3: 124,115,509 (GRCm39)	M223K	possibly damaging	Het
Tssk5	C	T	15: 76,256,668 (GRCm39)	R280Q	probably benign	Het
Uspl1	T	A	5: 149,151,405 (GRCm39)	D669E	probably damaging	Het
Vav1	C	A	17: 57,606,839 (GRCm39)		probably null	Het
Vcl	A	T	14: 21,065,007 (GRCm39)	E634V	probably benign	Het
Zfp672	A	T	11: 58,207,281 (GRCm39)	C347S	probably benign	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
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

Predicted Primers

PCR Primer
(F):5'- TCTTTGCCGGCCACGTAAAG -3'
(R):5'- GTCAGAAGAAGTACTTTGTCGGGG -3'

Sequencing Primer
(F):5'- ACGTAAAGCTTGCTGACTGC -3'
(R):5'- TACTTTGTCGGGGAAGAAGCC -3'

Posted On

2015-09-25