Mutagenetix > Incidental Mutation

Incidental Mutation 'R5810:Actr3'

501530

Institutional Source

Beutler Lab

Gene Symbol

Actr3

Ensembl Gene

ENSMUSG00000026341

Gene Name

ARP3 actin-related protein 3

Synonyms

Arp3, 1200003A09Rik

MMRRC Submission

043395-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5810 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

125320642-125363464 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

A to G at 125344116 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000139886 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027579] [ENSMUST00000178474] [ENSMUST00000185280] [ENSMUST00000187460] [ENSMUST00000188497] [ENSMUST00000191004] [ENSMUST00000191544] [ENSMUST00000191578]

AlphaFold

Q99JY9

Predicted Effect

silent
Transcript: ENSMUST00000027579

SMART Domains

Protein: ENSMUSP00000027579
Gene: ENSMUSG00000026341

Domain	Start	End	E-Value	Type
ACTIN	5	413	1.62e-186	SMART

Predicted Effect

silent
Transcript: ENSMUST00000178474

SMART Domains

Protein: ENSMUSP00000137503
Gene: ENSMUSG00000026341

Domain	Start	End	E-Value	Type
ACTIN	5	413	1.62e-186	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000185280

SMART Domains

Protein: ENSMUSP00000140082
Gene: ENSMUSG00000026341

Domain	Start	End	E-Value	Type
Pfam:Actin	1	70	2.7e-17	PFAM

Predicted Effect

silent
Transcript: ENSMUST00000187460

SMART Domains

Protein: ENSMUSP00000140000
Gene: ENSMUSG00000026341

Domain	Start	End	E-Value	Type
ACTIN	5	161	3.4e-7	SMART

Predicted Effect

silent
Transcript: ENSMUST00000188497

SMART Domains

Protein: ENSMUSP00000140535
Gene: ENSMUSG00000026341

Domain	Start	End	E-Value	Type
ACTIN	5	216	7.6e-25	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000188827

Predicted Effect

probably benign
Transcript: ENSMUST00000191004

SMART Domains

Protein: ENSMUSP00000140953
Gene: ENSMUSG00000026341

Domain	Start	End	E-Value	Type
Pfam:Actin	2	129	2.1e-32	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000191544

SMART Domains

Protein: ENSMUSP00000139674
Gene: ENSMUSG00000026341

Domain	Start	End	E-Value	Type
ACTIN	1	155	2.8e-9	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000191578

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 96.0%

Validation Efficiency

100% (66/66)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The specific function of this gene has not yet been determined; however, the protein it encodes is known to be a major constituent of the ARP2/3 complex. This complex is located at the cell surface and is essential to cell shape and motility through lamellipodial actin assembly and protrusion. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Mar 2013]
PHENOTYPE: Mice homozygous for a null allele die prior to E4.5 and exhibit abnormal embryogenesis. [provided by MGI curators]

Allele List at MGI

All alleles(12) : Gene trapped(12)

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	A	G	4: 53,079,631 (GRCm39)	F866L	probably benign	Het
Abca16	T	A	7: 120,035,155 (GRCm39)	C314S	probably damaging	Het
Actl11	C	T	9: 107,806,420 (GRCm39)	P248S	probably benign	Het
Baz1a	G	A	12: 54,974,500 (GRCm39)		probably benign	Het
Birc6	A	C	17: 74,977,369 (GRCm39)	N4388T	probably damaging	Het
Bpifa5	G	A	2: 154,005,638 (GRCm39)		probably null	Het
Car13	A	C	3: 14,706,828 (GRCm39)		probably null	Het
Ceacam18	A	T	7: 43,286,382 (GRCm39)	H85L	probably benign	Het
Cnnm3	A	G	1: 36,564,280 (GRCm39)	E704G	probably benign	Het
Cyp4f14	T	A	17: 33,125,072 (GRCm39)	I450F	possibly damaging	Het
Ddhd1	G	T	14: 45,840,164 (GRCm39)	T710N	probably damaging	Het
Ddx60	C	T	8: 62,465,422 (GRCm39)	Q1360*	probably null	Het
Dlg5	A	G	14: 24,196,322 (GRCm39)	V1625A	probably damaging	Het
Dst	G	A	1: 34,222,121 (GRCm39)		probably benign	Het
Dyrk2	G	T	10: 118,696,245 (GRCm39)	H338N	probably benign	Het
Epb41l1	A	T	2: 156,341,575 (GRCm39)	I187F	probably damaging	Het
Esd	A	G	14: 74,983,051 (GRCm39)	D221G	probably damaging	Het
Fam53b	T	A	7: 132,361,893 (GRCm39)	N45I	probably damaging	Het
Fchsd1	C	T	18: 38,092,926 (GRCm39)		probably benign	Het
Fryl	A	T	5: 73,248,098 (GRCm39)	D1006E	probably benign	Het
Gli3	T	C	13: 15,818,894 (GRCm39)	V232A	probably damaging	Het
Gm28308	C	A	6: 52,190,196 (GRCm39)		probably benign	Het
Gpatch1	G	A	7: 34,994,796 (GRCm39)	A490V	probably benign	Het
Hoxa7	T	C	6: 52,193,004 (GRCm39)	D128G	probably benign	Het
Igdcc4	A	G	9: 65,035,977 (GRCm39)	T751A	probably damaging	Het
Igsf10	G	A	3: 59,226,492 (GRCm39)	L2394F	probably damaging	Het
Il15ra	A	G	2: 11,738,063 (GRCm39)		probably null	Het
Il17re	C	T	6: 113,446,557 (GRCm39)	A436V	probably damaging	Het
Krtap19-2	T	C	16: 88,671,124 (GRCm39)		probably benign	Het
Larp7-ps	A	T	4: 92,079,820 (GRCm39)		probably null	Het
Lgals12	T	C	19: 7,584,085 (GRCm39)	D4G	probably benign	Het
Liph	A	T	16: 21,786,860 (GRCm39)	L252Q	probably damaging	Het
Mtg1	T	A	7: 139,725,898 (GRCm39)		probably null	Het
Myo18b	A	G	5: 112,982,316 (GRCm39)	L1139P	probably damaging	Het
Ninl	T	C	2: 150,792,088 (GRCm39)	R812G	probably benign	Het
Npm3	A	G	19: 45,736,644 (GRCm39)	I165T	possibly damaging	Het
Or1e22	G	T	11: 73,376,921 (GRCm39)	S243*	probably null	Het
Osbpl9	A	G	4: 108,943,571 (GRCm39)	V231A	probably benign	Het
Pgam2	T	C	11: 5,753,417 (GRCm39)	H91R	possibly damaging	Het
Pkhd1	A	G	1: 20,270,897 (GRCm39)	W3219R	probably benign	Het
Procr	A	G	2: 155,593,327 (GRCm39)	K4E	possibly damaging	Het
Slc22a16	C	T	10: 40,471,314 (GRCm39)	T495I	possibly damaging	Het
Slc22a6	A	G	19: 8,601,222 (GRCm39)	K425E	probably damaging	Het
Slco6c1	A	T	1: 97,003,598 (GRCm39)	C500S	probably damaging	Het
Snrpd2	G	T	7: 18,886,447 (GRCm39)	V77F	probably benign	Het
Sp100	G	A	1: 85,593,006 (GRCm39)	G145D	probably benign	Het
Spg7	G	A	8: 123,821,308 (GRCm39)	E678K	possibly damaging	Het
Ssh1	T	C	5: 114,084,627 (GRCm39)	K538E	probably benign	Het
Sspo	C	T	6: 48,460,832 (GRCm39)	R3356W	probably benign	Het
Stx1a	G	T	5: 135,077,932 (GRCm39)	V255F	probably damaging	Het
Tbc1d13	C	A	2: 30,032,380 (GRCm39)	Q164K	probably benign	Het
Tfpi	AATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGA	AATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGA	2: 84,264,768 (GRCm39)		probably benign	Het
Tpm2	T	C	4: 43,518,968 (GRCm39)		probably benign	Het
Triobp	T	C	15: 78,852,467 (GRCm39)	C874R	probably benign	Het
Tymp	T	A	15: 89,258,534 (GRCm39)	H269L	probably damaging	Het
Vmn1r194	T	A	13: 22,428,597 (GRCm39)	Y71*	probably null	Het
Vmn2r102	T	C	17: 19,897,804 (GRCm39)	V273A	probably benign	Het
Vmn2r2	A	T	3: 64,024,815 (GRCm39)	C589S	probably damaging	Het
Vps13a	T	C	19: 16,643,688 (GRCm39)	T2063A	probably benign	Het
Ywhaz	T	C	15: 36,775,510 (GRCm39)	I217M	probably damaging	Het
Zfp322a	A	C	13: 23,541,579 (GRCm39)	Y54*	probably null	Het
Zswim9	A	T	7: 12,994,662 (GRCm39)	V498D	probably damaging	Het

Other mutations in Actr3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00264:Actr3	APN	1	125,324,966 (GRCm39)	missense	probably benign	0.00
IGL00574:Actr3	APN	1	125,339,011 (GRCm39)	missense	probably damaging	1.00
IGL00715:Actr3	APN	1	125,322,813 (GRCm39)	missense	probably damaging	0.96
IGL01139:Actr3	APN	1	125,333,622 (GRCm39)	missense	probably damaging	1.00
IGL01897:Actr3	APN	1	125,346,025 (GRCm39)	missense	possibly damaging	0.54
P0023:Actr3	UTSW	1	125,322,803 (GRCm39)	critical splice donor site	probably null
R0217:Actr3	UTSW	1	125,335,150 (GRCm39)	splice site	probably benign
R0660:Actr3	UTSW	1	125,336,304 (GRCm39)	missense	probably benign	0.40
R1494:Actr3	UTSW	1	125,344,018 (GRCm39)	missense	probably benign	0.06
R1582:Actr3	UTSW	1	125,333,662 (GRCm39)	missense	probably benign	0.01
R1589:Actr3	UTSW	1	125,336,300 (GRCm39)	missense	probably damaging	1.00
R3432:Actr3	UTSW	1	125,321,776 (GRCm39)	missense	probably damaging	1.00
R6089:Actr3	UTSW	1	125,335,132 (GRCm39)	missense	probably damaging	1.00
R6276:Actr3	UTSW	1	125,322,874 (GRCm39)	missense	probably benign
R7120:Actr3	UTSW	1	125,331,169 (GRCm39)	nonsense	probably null
R9533:Actr3	UTSW	1	125,339,048 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AGCGAGATATGGTTTTAAACTGGC -3'
(R):5'- ATCCCTGAGATGAAGCTGAGG -3'

Sequencing Primer
(F):5'- TCTATGAACTCAAGAGCAGCCTGG -3'
(R):5'- CCCTGAGATGAAGCTGAGGTATGG -3'

Posted On

2017-12-01