Mutagenetix > Incidental Mutation

Incidental Mutation 'R1589:Actr3'

177683

Institutional Source

Beutler Lab

Gene Symbol

Actr3

Ensembl Gene

ENSMUSG00000026341

Gene Name

ARP3 actin-related protein 3

Synonyms

Arp3, 1200003A09Rik

MMRRC Submission

039626-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1589 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

125320642-125363464 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 125336300 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 79 (M79K)

Ref Sequence

ENSEMBL: ENSMUSP00000139674 (fasta)

Gene Model

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

AlphaFold

Q99JY9

Predicted Effect

probably damaging
Transcript: ENSMUST00000027579
AA Change: M130K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000027579
Gene: ENSMUSG00000026341
AA Change: M130K

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000178474
AA Change: M130K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000137503
Gene: ENSMUSG00000026341
AA Change: M130K

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000185280
AA Change: M42K

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000140082
Gene: ENSMUSG00000026341
AA Change: M42K

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000187460
AA Change: M130K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000140000
Gene: ENSMUSG00000026341
AA Change: M130K

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000188497
AA Change: M130K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000140535
Gene: ENSMUSG00000026341
AA Change: M130K

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000189192

Predicted Effect

probably damaging
Transcript: ENSMUST00000191004
AA Change: M79K

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000140953
Gene: ENSMUSG00000026341
AA Change: M79K

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000191544
AA Change: M79K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000139674
Gene: ENSMUSG00000026341
AA Change: M79K

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

Predicted Effect

probably benign
Transcript: ENSMUST00000191578

Meta Mutation Damage Score

0.9693

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.8%
20x: 90.8%

Validation Efficiency

97% (89/92)

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700008P02Rik	A	G	3: 6,685,501 (GRCm39)		probably benign	Het
Aadacl2	C	T	3: 59,917,997 (GRCm39)	T82I	probably benign	Het
Acadl	T	C	1: 66,892,382 (GRCm39)	N147S	probably benign	Het
Agbl3	A	G	6: 34,834,452 (GRCm39)	S874G	possibly damaging	Het
Aoah	A	T	13: 21,187,118 (GRCm39)	T472S	probably damaging	Het
Asb16	A	T	11: 102,159,821 (GRCm39)	D58V	probably damaging	Het
B4galt1	T	C	4: 40,823,575 (GRCm39)	D172G	probably benign	Het
Bax	T	C	7: 45,114,671 (GRCm39)	N55S	possibly damaging	Het
Bdkrb2	A	G	12: 105,558,118 (GRCm39)	N120D	possibly damaging	Het
Bicdl1	T	C	5: 115,789,325 (GRCm39)		probably benign	Het
Cand1	A	G	10: 119,049,471 (GRCm39)	L425P	probably damaging	Het
Caskin1	G	A	17: 24,724,452 (GRCm39)		probably null	Het
Cd248	C	T	19: 5,119,960 (GRCm39)	P603S	probably benign	Het
Cep95	G	T	11: 106,690,930 (GRCm39)	R143L	probably benign	Het
Clptm1l	G	T	13: 73,762,792 (GRCm39)		probably null	Het
Cntnap5a	T	C	1: 115,987,930 (GRCm39)	F154L	possibly damaging	Het
Cyld	A	T	8: 89,436,618 (GRCm39)	I303F	possibly damaging	Het
Dock2	A	G	11: 34,597,288 (GRCm39)	S370P	probably damaging	Het
Enah	G	T	1: 181,749,858 (GRCm39)	T327K	probably damaging	Het
Farp2	A	T	1: 93,507,582 (GRCm39)	S427C	probably damaging	Het
Fbxw11	C	T	11: 32,683,612 (GRCm39)	T301M	probably damaging	Het
Foxc2	A	T	8: 121,843,915 (GRCm39)	T188S	probably benign	Het
Fzd2	A	G	11: 102,497,154 (GRCm39)	T533A	probably benign	Het
Glb1l2	G	T	9: 26,680,334 (GRCm39)	S248*	probably null	Het
Glul	A	T	1: 153,781,284 (GRCm39)		probably benign	Het
Gm28042	A	G	2: 119,871,887 (GRCm39)	T946A	probably benign	Het
Golga3	T	A	5: 110,329,649 (GRCm39)	D2E	probably damaging	Het
Grm1	A	T	10: 10,595,711 (GRCm39)	F639Y	probably benign	Het
Gzmn	A	G	14: 56,403,368 (GRCm39)	L247P	probably benign	Het
Hgf	T	G	5: 16,818,783 (GRCm39)	I525R	probably damaging	Het
Hnrnpul2	T	A	19: 8,808,696 (GRCm39)	D719E	probably benign	Het
Itga10	C	T	3: 96,559,054 (GRCm39)		probably benign	Het
Itga9	T	C	9: 118,436,185 (GRCm39)		probably null	Het
Itgb1	T	A	8: 129,431,939 (GRCm39)	C16S	probably damaging	Het
Itgb1	G	T	8: 129,431,940 (GRCm39)	C16F	possibly damaging	Het
Kat14	A	G	2: 144,236,020 (GRCm39)	I251V	probably benign	Het
Kdsr	A	T	1: 106,662,271 (GRCm39)		probably null	Het
Kif12	T	A	4: 63,084,737 (GRCm39)	E527V	probably benign	Het
Larp1b	T	C	3: 40,987,909 (GRCm39)	S44P	probably damaging	Het
Lonp2	T	C	8: 87,399,700 (GRCm39)		probably benign	Het
Lrp1	C	T	10: 127,441,475 (GRCm39)	S216N	probably benign	Het
Lrrc19	T	C	4: 94,529,187 (GRCm39)	S32G	probably benign	Het
Mdm2	G	A	10: 117,526,434 (GRCm39)	T335M	probably benign	Het
Mettl25	A	G	10: 105,615,493 (GRCm39)	Y504H	probably damaging	Het
Mill1	T	C	7: 17,979,572 (GRCm39)	I13T	probably benign	Het
Mmachc	T	A	4: 116,560,721 (GRCm39)	Q258L	probably benign	Het
Mpdz	T	A	4: 81,339,413 (GRCm39)	I5L	probably benign	Het
Mrps2	C	T	2: 28,359,500 (GRCm39)	A119V	probably benign	Het
Mtcl2	A	T	2: 156,869,557 (GRCm39)	M1026K	probably benign	Het
Mtmr11	A	G	3: 96,075,429 (GRCm39)	T370A	probably benign	Het
Nmi	T	C	2: 51,848,989 (GRCm39)	I34V	possibly damaging	Het
Obscn	A	T	11: 58,926,901 (GRCm39)	M5538K	possibly damaging	Het
Ogdhl	T	C	14: 32,047,822 (GRCm39)	I24T	probably benign	Het
Omp	G	T	7: 97,794,566 (GRCm39)	D20E	probably benign	Het
Or2ag19	A	G	7: 106,444,403 (GRCm39)	Y195C	possibly damaging	Het
Or52e8b	A	G	7: 104,673,767 (GRCm39)	V140A	probably benign	Het
Or5b120	C	T	19: 13,480,121 (GRCm39)	T138M	probably benign	Het
Or6c69	A	G	10: 129,747,550 (GRCm39)	V199A	probably benign	Het
Otog	A	G	7: 45,933,332 (GRCm39)	H1291R	probably benign	Het
Pgbd1	A	G	13: 21,607,462 (GRCm39)	L244P	probably damaging	Het
Ranbp2	A	G	10: 58,299,808 (GRCm39)	I481V	probably benign	Het
Rbp3	A	T	14: 33,677,749 (GRCm39)	I566F	probably damaging	Het
Rsph4a	A	G	10: 33,781,525 (GRCm39)	D125G	probably benign	Het
Scn11a	A	G	9: 119,598,873 (GRCm39)	V1219A	probably damaging	Het
Serpine3	G	A	14: 62,911,830 (GRCm39)	G264D	probably benign	Het
Slc4a10	T	C	2: 62,087,806 (GRCm39)	F400L	probably damaging	Het
Slco1a4	C	T	6: 141,791,173 (GRCm39)	V8I	probably benign	Het
Spen	T	C	4: 141,215,335 (GRCm39)	D499G	unknown	Het
Stk32c	A	G	7: 138,698,931 (GRCm39)		probably null	Het
Tars1	A	G	15: 11,388,261 (GRCm39)	V485A	probably benign	Het
Tcerg1l	A	G	7: 137,963,496 (GRCm39)	L258P	probably damaging	Het
Tmc2	A	T	2: 130,089,880 (GRCm39)	I622F	probably damaging	Het
Tmem183a	A	T	1: 134,282,444 (GRCm39)	N220K	probably damaging	Het
Tnni3	T	C	7: 4,523,525 (GRCm39)	D146G	probably damaging	Het
Trappc11	G	T	8: 47,954,715 (GRCm39)	D908E	probably damaging	Het
Trappc8	A	G	18: 20,996,608 (GRCm39)	Y436H	probably damaging	Het
Ttc41	G	A	10: 86,612,254 (GRCm39)	V1176I	probably benign	Het
Ube2b	A	G	11: 51,888,699 (GRCm39)	V24A	probably benign	Het
Usp30	T	C	5: 114,251,022 (GRCm39)	C233R	probably damaging	Het
Vmn1r87	T	A	7: 12,865,703 (GRCm39)	T195S	possibly damaging	Het
Vmn2r24	T	C	6: 123,783,479 (GRCm39)		probably benign	Het
Vmn2r81	C	A	10: 79,128,858 (GRCm39)	T583N	probably damaging	Het
Vwa8	C	T	14: 79,145,670 (GRCm39)	R116C	probably damaging	Het
Wdr1	C	A	5: 38,687,315 (GRCm39)	V239L	probably benign	Het
Wdr17	C	T	8: 55,156,942 (GRCm39)		probably benign	Het
Zfhx4	A	C	3: 5,306,789 (GRCm39)	D5A	probably damaging	Het
Zfyve27	T	C	19: 42,160,184 (GRCm39)		probably null	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
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'- GCCCTACCGTGTCTAAATTGTCACC -3'
(R):5'- CGAATTGCTCCTGCATTTTAGCCTG -3'

Sequencing Primer
(F):5'- CCTCAGGAAAGCATGGTATGATTC -3'
(R):5'- atagttcctttcccccagttc -3'

Posted On

2014-04-24