Mutagenetix > Incidental Mutation

Incidental Mutation 'R9030:Actr5'

686979

Institutional Source

Beutler Lab

Gene Symbol

Actr5

Ensembl Gene

ENSMUSG00000037761

Gene Name

ARP5 actin-related protein 5

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R9030 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

158624888-158639211 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 158632401 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 375 (I375L)

Ref Sequence

ENSEMBL: ENSMUSP00000046658 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045644] [ENSMUST00000183731]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000045644
AA Change: I375L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000046658
Gene: ENSMUSG00000037761
AA Change: I375L

Domain	Start	End	E-Value	Type
ACTIN	30	571	1.15e-36	SMART
low complexity region	593	605	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000183731
AA Change: I375L

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

SMART Domains

Protein: ENSMUSP00000139110
Gene: ENSMUSG00000037761
AA Change: I375L

Domain	Start	End	E-Value	Type
ACTIN	30	399	3.1e-8	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (57/57)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110008L16Rik	T	C	12: 55,379,407	F514S	probably damaging	Het
Adgrl2	G	T	3: 148,839,125	T778K	possibly damaging	Het
Cdc73	A	T	1: 143,609,496	L478H	probably damaging	Het
Cdh7	C	A	1: 110,100,113	H529Q	probably benign	Het
Cep55	T	C	19: 38,071,144		probably null	Het
Chd9	G	A	8: 90,956,570	R546Q	unknown	Het
Ddit4	A	T	10: 59,950,693	L178Q	probably damaging	Het
Dgke	A	T	11: 89,050,411	N315K	possibly damaging	Het
Dsg1a	A	G	18: 20,340,492	D874G	probably damaging	Het
Dsp	T	A	13: 38,168,697	Y184N	probably damaging	Het
Dynlt1c	A	G	17: 6,603,517	I20V	probably benign	Het
Ephx4	A	G	5: 107,429,683	H291R	possibly damaging	Het
Epx	A	T	11: 87,872,644	M250K	probably benign	Het
Fan1	T	C	7: 64,373,013	Y164C	probably benign	Het
Fer1l6	A	T	15: 58,630,745	Y1365F	probably damaging	Het
Fndc8	A	G	11: 82,898,696	T227A	probably benign	Het
Gbp7	T	C	3: 142,538,037	I115T	probably damaging	Het
Gm5145	A	G	17: 20,571,008	E216G	probably benign	Het
Gm94	A	T	18: 43,781,261	F77L	possibly damaging	Het
Grik3	C	A	4: 125,632,392	H139Q	probably benign	Het
Gucy2e	T	C	11: 69,225,001	T852A	probably damaging	Het
Hif1a	T	C	12: 73,936,236	S274P	probably damaging	Het
Hmcn1	T	A	1: 150,817,119	I268L	probably benign	Het
Klk15	C	T	7: 43,938,366	H73Y	possibly damaging	Het
Lin52	T	A	12: 84,545,907	S87T		Het
Lrrc74b	A	G	16: 17,549,776		probably null	Het
Mapk10	T	C	5: 102,996,633	K136R	probably damaging	Het
Nlrp2	A	T	7: 5,322,458	N738K	probably null	Het
Nlrp5	A	T	7: 23,430,148	Q880L	possibly damaging	Het
Nov	A	T	15: 54,752,291	Y284F	probably damaging	Het
Olfr1167	A	T	2: 88,149,374	I215N	possibly damaging	Het
Olfr1381	T	A	11: 49,551,981	V78E	probably damaging	Het
Olfr811	G	T	10: 129,802,057	P156Q	probably damaging	Het
P4htm	G	A	9: 108,597,428	P46L	probably benign	Het
Pcsk4	A	T	10: 80,329,024	H69Q	probably damaging	Het
Pdzd2	A	G	15: 12,374,299	S1917P	probably benign	Het
Pnpla5	A	G	15: 84,113,886	V385A	possibly damaging	Het
Rims2	C	T	15: 39,476,477	R856C	probably damaging	Het
Rprd2	A	G	3: 95,784,310	Y218H	probably benign	Het
Sat2	T	A	11: 69,622,243		probably benign	Het
Sf1	C	T	19: 6,376,306	R186C		Het
Snrnp200	A	G	2: 127,211,546		probably benign	Het
Sqor	A	T	2: 122,787,594	D124V	probably benign	Het
Ssh2	A	G	11: 77,421,236	H191R	possibly damaging	Het
Stac	C	A	9: 111,690,252		probably benign	Het
Svs4	T	C	2: 164,277,138	M93V	unknown	Het
Tbc1d32	A	T	10: 56,161,145	S668T	possibly damaging	Het
Tex10	A	G	4: 48,452,056	F690S	probably damaging	Het
Tex30	A	G	1: 44,091,196	M88T		Het
Tgfbrap1	T	C	1: 43,056,677	T534A	probably benign	Het
Tmco1	C	T	1: 167,308,563		probably benign	Het
Tnrc18	T	C	5: 142,726,063	E2647G	probably damaging	Het
Trim43a	GATTTATTTATTTATTTATTTATTTATTTATTTATTTATT	GATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATT	9: 88,582,989		probably benign	Het
Tubb3	A	T	8: 123,418,957	R62W	probably damaging	Het
Vmn2r108	A	G	17: 20,470,050	S507P	probably benign	Het
Vmn2r116	A	G	17: 23,384,890	K30E	possibly damaging	Het
Vmn2r14	G	A	5: 109,220,188	H313Y	probably damaging	Het
Wdr37	C	T	13: 8,835,388	V340M	probably damaging	Het
Zfp799	A	G	17: 32,820,591	F234L	possibly damaging	Het

Other mutations in Actr5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01609:Actr5	APN	2	158636802	critical splice donor site	probably null
IGL02622:Actr5	APN	2	158638808	missense	probably benign	0.03
IGL02707:Actr5	APN	2	158636697	missense	probably benign	0.45
R0610:Actr5	UTSW	2	158632456	critical splice donor site	probably null
R1467:Actr5	UTSW	2	158638697	missense	probably benign	0.02
R1467:Actr5	UTSW	2	158638697	missense	probably benign	0.02
R1720:Actr5	UTSW	2	158636137	missense	possibly damaging	0.93
R1869:Actr5	UTSW	2	158638723	missense	probably damaging	0.99
R1937:Actr5	UTSW	2	158636029	missense	possibly damaging	0.63
R2051:Actr5	UTSW	2	158632293	missense	probably benign	0.00
R2389:Actr5	UTSW	2	158625212	missense	probably benign
R2420:Actr5	UTSW	2	158636081	missense	probably damaging	1.00
R2422:Actr5	UTSW	2	158636081	missense	probably damaging	1.00
R2909:Actr5	UTSW	2	158625220	missense	possibly damaging	0.52
R4089:Actr5	UTSW	2	158625102	utr 5 prime	probably benign
R4719:Actr5	UTSW	2	158626513	missense	probably damaging	0.97
R4737:Actr5	UTSW	2	158628071	missense	probably damaging	1.00
R4820:Actr5	UTSW	2	158625506	missense	probably damaging	1.00
R5010:Actr5	UTSW	2	158635363	missense	probably benign	0.00
R5341:Actr5	UTSW	2	158625224	nonsense	probably null
R5457:Actr5	UTSW	2	158635998	splice site	probably null
R6328:Actr5	UTSW	2	158635344	missense	possibly damaging	0.72
R7158:Actr5	UTSW	2	158626414	missense	possibly damaging	0.95
R8526:Actr5	UTSW	2	158632304	missense	probably damaging	1.00
R8789:Actr5	UTSW	2	158636684	nonsense	probably null
R9000:Actr5	UTSW	2	158636690	missense	probably benign	0.00
R9222:Actr5	UTSW	2	158631503	missense	probably damaging	0.98
R9316:Actr5	UTSW	2	158635354	missense	probably benign	0.00
R9563:Actr5	UTSW	2	158628215	missense	probably damaging	1.00
R9564:Actr5	UTSW	2	158628215	missense	probably damaging	1.00
R9565:Actr5	UTSW	2	158628215	missense	probably damaging	1.00
R9588:Actr5	UTSW	2	158626408	missense	possibly damaging	0.94
Z1177:Actr5	UTSW	2	158636705	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- CCGTCTCTGAGAGTGACTTG -3'
(R):5'- AAGCCGACTCAATGGCTTG -3'

Sequencing Primer
(F):5'- AGAGTGACTTGTGACTGCTC -3'
(R):5'- AAGGTCATCTCGGCTACATG -3'

Posted On

2021-11-19