Mutagenetix > Incidental Mutation

Incidental Mutation 'R9207:Actrt2'

698574

Institutional Source

Beutler Lab

Gene Symbol

Actrt2

Ensembl Gene

ENSMUSG00000051276

Gene Name

actin-related protein T2

Synonyms

1700052K15Rik, Arp-T2, Arpm2

MMRRC Submission

068981-MU

Accession Numbers

Essential gene?

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

Stock #

R9207 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

154750890-154752324 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 154751920 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 72 (H72L)

Ref Sequence

ENSEMBL: ENSMUSP00000050377 (fasta)

Gene Model

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

AlphaFold

Q9D9L5

Predicted Effect

probably benign
Transcript: ENSMUST00000060062
AA Change: H72L

PolyPhen 2 Score 0.235 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000050377
Gene: ENSMUSG00000051276
AA Change: H72L

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

100% (43/43)

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadat	T	G	8: 60,979,657 (GRCm39)	I173S	probably damaging	Het
Adgrf1	A	G	17: 43,621,164 (GRCm39)	D467G	probably benign	Het
Axdnd1	A	G	1: 156,215,616 (GRCm39)	L226P		Het
Begain	T	C	12: 108,999,250 (GRCm39)	D507G	probably damaging	Het
Bsdc1	A	G	4: 129,362,830 (GRCm39)	N134S	probably benign	Het
Ccdc39	C	A	3: 33,886,706 (GRCm39)	E301*	probably null	Het
Cdh23	A	G	10: 60,243,210 (GRCm39)	V1055A	probably damaging	Het
Efcab8	A	G	2: 153,656,339 (GRCm39)	D591G	unknown	Het
Fibcd1	G	A	2: 31,706,455 (GRCm39)	R459C	probably damaging	Het
Frem3	T	G	8: 81,340,071 (GRCm39)	V788G	possibly damaging	Het
Ftcd	A	T	10: 76,422,973 (GRCm39)	I423L	probably benign	Het
Gad1	G	A	2: 70,409,546 (GRCm39)		probably null	Het
Gm8229	T	C	14: 44,606,238 (GRCm39)	L156P		Het
Grm7	T	C	6: 111,335,874 (GRCm39)	Y762H	probably damaging	Het
Hectd4	T	A	5: 121,433,496 (GRCm39)	V937D	possibly damaging	Het
Ifnz	T	C	4: 88,701,525 (GRCm39)	V168A	probably benign	Het
Irx4	C	G	13: 73,416,649 (GRCm39)	C348W	probably damaging	Het
Itgb4	G	T	11: 115,897,923 (GRCm39)	G1603V	probably damaging	Het
Krt32	A	G	11: 99,977,580 (GRCm39)	V162A	possibly damaging	Het
Mpped2	A	G	2: 106,697,319 (GRCm39)	T265A	probably benign	Het
Npas3	T	C	12: 54,114,818 (GRCm39)	L580P	possibly damaging	Het
Or4f47	G	A	2: 111,972,397 (GRCm39)	V36M	probably benign	Het
Or5b109	A	T	19: 13,212,400 (GRCm39)	Q262L	possibly damaging	Het
Or8b54	G	A	9: 38,686,960 (GRCm39)	M136I	possibly damaging	Het
Plec	A	G	15: 76,058,117 (GRCm39)	L3940P	probably damaging	Het
Pum2	T	C	12: 8,763,904 (GRCm39)	Y283H	probably damaging	Het
Rad54l	T	C	4: 115,967,215 (GRCm39)	H281R	probably damaging	Het
Rftn2	T	A	1: 55,224,149 (GRCm39)	Q397L	probably damaging	Het
Rnf166	C	T	8: 123,195,068 (GRCm39)	A151T	probably benign	Het
Setdb1	A	T	3: 95,246,113 (GRCm39)	I604N	possibly damaging	Het
Smr2	A	G	5: 88,256,726 (GRCm39)	T135A	unknown	Het
Snai2	C	A	16: 14,524,946 (GRCm39)	H151N	possibly damaging	Het
Spag6l	A	T	16: 16,598,492 (GRCm39)	I333N	probably benign	Het
Spta1	A	G	1: 174,039,139 (GRCm39)	T1161A	probably benign	Het
Sult2a1	G	T	7: 13,566,627 (GRCm39)	A116E	probably benign	Het
Tas2r120	T	A	6: 132,634,626 (GRCm39)	L236*	probably null	Het
Tchhl1	T	A	3: 93,377,819 (GRCm39)	N174K	possibly damaging	Het
Tex15	T	C	8: 34,065,784 (GRCm39)	L1738P	probably damaging	Het
Timp4	T	C	6: 115,224,270 (GRCm39)	Y133C	probably damaging	Het
Tmem25	A	G	9: 44,710,476 (GRCm39)		probably null	Het
Tubd1	A	T	11: 86,456,537 (GRCm39)	T399S	probably benign	Het
Tyw1	G	A	5: 130,298,065 (GRCm39)	R202Q	probably damaging	Het
Zfp110	A	T	7: 12,582,485 (GRCm39)	I378L	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
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
Z1176:Actrt2	UTSW	4	154,751,289 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- GTCTCAAACATCATCTCTGCCG -3'
(R):5'- TTGCCGCAGACATGTTTAACCC -3'

Sequencing Primer
(F):5'- AAACATCATCTCTGCCGTCTTC -3'
(R):5'- GCAGACATGTTTAACCCACTGG -3'

Posted On

2022-02-07