Mutagenetix > Incidental Mutation

Incidental Mutation 'R1494:Actr3'

163792

Institutional Source

Beutler Lab

Gene Symbol

Actr3

Ensembl Gene

ENSMUSG00000026341

Gene Name

ARP3 actin-related protein 3

Synonyms

Arp3, 1200003A09Rik

MMRRC Submission

039545-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1494 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

125320642-125363464 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 125344018 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 67 (I67T)

Ref Sequence

ENSEMBL: ENSMUSP00000140000 (fasta)

Gene Model

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

AlphaFold

Q99JY9

Predicted Effect

probably benign
Transcript: ENSMUST00000027579
AA Change: I67T

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000027579
Gene: ENSMUSG00000026341
AA Change: I67T

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

Predicted Effect

probably benign
Transcript: ENSMUST00000178474
AA Change: I67T

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000137503
Gene: ENSMUSG00000026341
AA Change: I67T

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: I67T

PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000140000
Gene: ENSMUSG00000026341
AA Change: I67T

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

Predicted Effect

probably benign
Transcript: ENSMUST00000188497
AA Change: I67T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000140535
Gene: ENSMUSG00000026341
AA Change: I67T

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
AA Change: I16T

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000140953
Gene: ENSMUSG00000026341
AA Change: I16T

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

Predicted Effect

probably benign
Transcript: ENSMUST00000191544
AA Change: I16T

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

SMART Domains

Protein: ENSMUSP00000139674
Gene: ENSMUSG00000026341
AA Change: I16T

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

Predicted Effect

probably benign
Transcript: ENSMUST00000191578

Meta Mutation Damage Score

0.0681

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.8%
20x: 91.3%

Validation Efficiency

97% (57/59)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700067P10Rik	A	G	17: 48,400,991 (GRCm39)	E92G	probably benign	Het
Abca13	C	T	11: 9,416,429 (GRCm39)	Q4064*	probably null	Het
Abca14	G	A	7: 119,815,524 (GRCm39)	M257I	probably benign	Het
Acsm2	T	A	7: 119,174,855 (GRCm39)	C207S	probably damaging	Het
Adcy7	T	C	8: 89,046,835 (GRCm39)	V606A	probably benign	Het
Ahnak2	G	A	12: 112,751,570 (GRCm39)	S54F	probably damaging	Het
Ano6	T	C	15: 95,870,388 (GRCm39)	S848P	probably damaging	Het
Atg3	C	T	16: 44,992,123 (GRCm39)		probably benign	Het
Atp8b1	T	A	18: 64,697,597 (GRCm39)	S416C	probably damaging	Het
C2cd5	A	G	6: 142,987,072 (GRCm39)		probably benign	Het
Capn11	A	T	17: 45,954,735 (GRCm39)	V134E	probably damaging	Het
Ccnd3	A	G	17: 47,909,033 (GRCm39)		probably null	Het
Chaf1b	T	A	16: 93,684,998 (GRCm39)	V149E	probably damaging	Het
Col5a2	T	A	1: 45,542,074 (GRCm39)	M1L	unknown	Het
Copa	T	C	1: 171,931,694 (GRCm39)	I315T	probably benign	Het
Cyp3a57	A	G	5: 145,318,077 (GRCm39)	M353V	probably damaging	Het
Dcaf6	T	C	1: 165,160,942 (GRCm39)	M828V	probably damaging	Het
Dock2	T	A	11: 34,232,761 (GRCm39)	K1080*	probably null	Het
Dock6	A	G	9: 21,726,038 (GRCm39)	V1424A	probably benign	Het
Foxa1	T	C	12: 57,588,984 (GRCm39)	D412G	probably damaging	Het
Foxp4	G	C	17: 48,191,278 (GRCm39)		probably benign	Het
Galnt9	T	A	5: 110,736,196 (GRCm39)	S171T	probably damaging	Het
Glt6d1	A	G	2: 25,684,260 (GRCm39)	Y249H	probably damaging	Het
Gm37240	A	T	3: 84,434,998 (GRCm39)	Y104N	probably damaging	Het
Gpx8	C	T	13: 113,182,149 (GRCm39)	E95K	possibly damaging	Het
Grm1	T	C	10: 10,565,450 (GRCm39)	T953A	probably benign	Het
Helz	T	C	11: 107,494,889 (GRCm39)		probably benign	Het
Hif3a	T	C	7: 16,788,647 (GRCm39)	Y108C	probably damaging	Het
Kcnj13	A	T	1: 87,316,939 (GRCm39)	L58Q	probably damaging	Het
Mfsd14b	A	T	13: 65,243,485 (GRCm39)	V53D	probably damaging	Het
Mrps7	G	C	11: 115,494,952 (GRCm39)		probably benign	Het
Mug1	G	A	6: 121,856,259 (GRCm39)	G1013D	probably damaging	Het
Or52h7	T	A	7: 104,214,038 (GRCm39)	Y203*	probably null	Het
Or6c8	A	T	10: 128,915,484 (GRCm39)	M116K	probably damaging	Het
Pax6	T	C	2: 105,521,955 (GRCm39)	I19T	probably benign	Het
Pde8b	G	A	13: 95,184,304 (GRCm39)	R416C	probably damaging	Het
Prl2c2	G	C	13: 13,176,786 (GRCm39)	T47R	probably damaging	Het
Pygl	G	A	12: 70,246,504 (GRCm39)	R348W	probably damaging	Het
Ralgapa1	T	A	12: 55,731,309 (GRCm39)	D1874V	probably damaging	Het
Shf	G	A	2: 122,199,163 (GRCm39)	P51S	probably damaging	Het
Sncaip	T	C	18: 53,001,958 (GRCm39)	S160P	probably damaging	Het
Sptbn4	A	G	7: 27,133,719 (GRCm39)	V79A	probably damaging	Het
Sptlc3	A	T	2: 139,431,480 (GRCm39)	Y334F	possibly damaging	Het
Supt16	A	G	14: 52,409,916 (GRCm39)	Y764H	probably benign	Het
Syne3	A	T	12: 104,921,841 (GRCm39)	V438E	possibly damaging	Het
Tagap1	T	C	17: 7,224,210 (GRCm39)	D162G	probably damaging	Het
Terb1	T	C	8: 105,225,122 (GRCm39)		probably benign	Het
Themis3	C	A	17: 66,866,949 (GRCm39)	R97L	probably benign	Het
Tnk1	T	A	11: 69,747,372 (GRCm39)	E86D	possibly damaging	Het
Tnpo3	A	G	6: 29,557,043 (GRCm39)	L53P	probably damaging	Het
Trpc6	G	A	9: 8,658,305 (GRCm39)	R725K	probably benign	Het
Ttll11	T	G	2: 35,685,391 (GRCm39)	T566P	probably damaging	Het
Unc5c	A	T	3: 141,533,310 (GRCm39)	T779S	possibly damaging	Het
Zfp42	A	G	8: 43,748,638 (GRCm39)	C288R	possibly damaging	Het
Zfp763	G	A	17: 33,240,477 (GRCm39)	T52I	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
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

Predicted Primers

PCR Primer
(F):5'- TGCGGAGACGAAAGAACACTCATTC -3'
(R):5'- TCCCTGAGATGAAGCTGAGGTATGG -3'

Sequencing Primer
(F):5'- cagaagcaggcaaatctatgaac -3'
(R):5'- CTAGAAGGCATTTTGTCTATGGC -3'

Posted On

2014-03-28