Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01897:Actr3'

179423

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Actr3

Ensembl Gene

ENSMUSG00000026341

Gene Name

ARP3 actin-related protein 3

Synonyms

Arp3, 1200003A09Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01897

Quality Score

Status

Chromosome

Chromosomal Location

125320642-125363464 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 125346025 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 21 (Y21H)

Ref Sequence

ENSEMBL: ENSMUSP00000137503 (fasta)

Gene Model

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

AlphaFold

Q99JY9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000027579
AA Change: Y21H

PolyPhen 2 Score 0.540 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000027579
Gene: ENSMUSG00000026341
AA Change: Y21H

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000178474
AA Change: Y21H

PolyPhen 2 Score 0.540 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000137503
Gene: ENSMUSG00000026341
AA Change: Y21H

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

probably benign
Transcript: ENSMUST00000187460
AA Change: Y21H

PolyPhen 2 Score 0.085 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000140000
Gene: ENSMUSG00000026341
AA Change: Y21H

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

Predicted Effect

probably benign
Transcript: ENSMUST00000188497
AA Change: Y21H

PolyPhen 2 Score 0.131 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000140535
Gene: ENSMUSG00000026341
AA Change: Y21H

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: ENSMUST00000191578
AA Change: Y21H

PolyPhen 2 Score 0.350 (Sensitivity: 0.90; Specificity: 0.89)

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

Coding Region Coverage

Validation Efficiency

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts15	A	T	9: 30,813,448 (GRCm39)	S906T	probably damaging	Het
Brat1	A	G	5: 140,703,670 (GRCm39)	D641G	probably benign	Het
Ccdc42	G	A	11: 68,485,101 (GRCm39)	R205H	probably benign	Het
Cdadc1	T	C	14: 59,829,986 (GRCm39)		probably null	Het
Cfi	T	C	3: 129,652,034 (GRCm39)	V235A	probably damaging	Het
Ctps1	T	A	4: 120,424,476 (GRCm39)	D46V	probably damaging	Het
Cyb5d1	A	T	11: 69,284,587 (GRCm39)	D188E	probably benign	Het
Cyp19a1	G	T	9: 54,075,813 (GRCm39)	T414N	probably benign	Het
Cyp2c40	A	T	19: 39,792,217 (GRCm39)	C242*	probably null	Het
Eif3b	A	T	5: 140,411,202 (GRCm39)	T218S	possibly damaging	Het
Fasn	A	T	11: 120,698,765 (GRCm39)	L2475Q	probably damaging	Het
Gm10717	C	T	9: 3,025,616 (GRCm39)	S67L	probably benign	Het
Gm10718	A	T	9: 3,025,118 (GRCm39)	Y194F	probably benign	Het
Heyl	A	T	4: 123,140,400 (GRCm39)	I320F	probably damaging	Het
Itpr3	T	A	17: 27,330,236 (GRCm39)	V1618E	probably damaging	Het
Kif7	A	T	7: 79,350,800 (GRCm39)	I1007N	probably damaging	Het
Lat2	A	G	5: 134,635,481 (GRCm39)		probably benign	Het
Lipm	A	T	19: 34,098,708 (GRCm39)	D394V	probably damaging	Het
Lmbrd1	T	A	1: 24,782,977 (GRCm39)	I307K	possibly damaging	Het
Mief1	T	C	15: 80,132,709 (GRCm39)		probably benign	Het
Mta2	C	T	19: 8,925,130 (GRCm39)	Q333*	probably null	Het
Neb	T	A	2: 52,170,587 (GRCm39)	E1695V	possibly damaging	Het
Npc1l1	A	T	11: 6,177,879 (GRCm39)	N510K	probably benign	Het
Or5af1	T	C	11: 58,722,465 (GRCm39)	F162L	probably damaging	Het
P2rx3	A	C	2: 84,853,825 (GRCm39)		probably benign	Het
Pdgfc	A	G	3: 81,111,639 (GRCm39)	E198G	possibly damaging	Het
Pkdcc	T	A	17: 83,527,548 (GRCm39)	I242N	probably damaging	Het
Pkn3	C	T	2: 29,972,824 (GRCm39)		probably benign	Het
Rcan2	T	G	17: 44,147,325 (GRCm39)	D54E	probably damaging	Het
Tmeff2	T	A	1: 51,171,369 (GRCm39)	Y202N	probably damaging	Het
Unc13c	A	G	9: 73,453,309 (GRCm39)	L1827P	probably damaging	Het
Vmn2r129	C	T	4: 156,690,549 (GRCm39)		noncoding transcript	Het
Wfdc15a	G	T	2: 164,041,896 (GRCm39)	Q21K	probably benign	Het
Zfp951	C	A	5: 104,963,149 (GRCm39)	S139I	probably benign	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
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
R5810:Actr3	UTSW	1	125,344,116 (GRCm39)	intron	probably benign
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

Posted On

2014-05-07