Mutagenetix > Incidental Mutation

Incidental Mutation 'R5655:Actr3b'

442235

Institutional Source

Beutler Lab

Gene Symbol

Actr3b

Ensembl Gene

ENSMUSG00000056367

Gene Name

ARP3 actin-related protein 3B

Synonyms

Arp3b, ARP11

MMRRC Submission

043301-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.665) question?

Stock #

R5655 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

25964995-26055686 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 26053366 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Phenylalanine at position 232 (V232F)

Ref Sequence

ENSEMBL: ENSMUSP00000121629 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000088244] [ENSMUST00000128727]

AlphaFold

Q641P0

Predicted Effect

probably damaging
Transcript: ENSMUST00000088244
AA Change: V320F

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

SMART Domains

Protein: ENSMUSP00000085578
Gene: ENSMUSG00000056367
AA Change: V320F

Domain	Start	End	E-Value	Type
ACTIN	5	413	1.33e-178	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000128727
AA Change: V232F

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

SMART Domains

Protein: ENSMUSP00000121629
Gene: ENSMUSG00000056367
AA Change: V232F

Domain	Start	End	E-Value	Type
ACTIN	1	325	1.27e-111	SMART

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the actin-related proteins (ARP), which form multiprotein complexes and share 35-55% amino acid identity with conventional actin. The protein encoded by this gene may have a regulatory role in the actin cytoskeleton and induce cell-shape change and motility. Pseudogenes of this gene are located on chromosomes 2, 4, 10, 16, 22 and Y. Alternative splicing results in multiple transcript variants and protein isoforms. [provided by RefSeq, Jul 2012]

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700016H13Rik	T	A	5: 103,796,746 (GRCm39)	I99F	probably benign	Het
Acan	G	A	7: 78,749,791 (GRCm39)	D1521N	possibly damaging	Het
Acap3	C	T	4: 155,981,076 (GRCm39)	T53I	probably benign	Het
Adgrl1	G	A	8: 84,665,230 (GRCm39)	V1311M	possibly damaging	Het
Arhgap23	T	C	11: 97,343,372 (GRCm39)		probably null	Het
Asns	A	C	6: 7,685,309 (GRCm39)	M116R	probably benign	Het
Asprv1	A	T	6: 86,605,464 (GRCm39)	E103D	probably benign	Het
Atxn2	T	C	5: 121,885,489 (GRCm39)	I232T	probably damaging	Het
B020004C17Rik	C	T	14: 57,252,689 (GRCm39)		probably benign	Het
Bckdha	A	G	7: 25,329,789 (GRCm39)	Y414H	probably damaging	Het
Bod1l	G	A	5: 41,974,387 (GRCm39)	T2309M	probably benign	Het
Cacna2d1	T	A	5: 16,507,333 (GRCm39)	F361I	probably damaging	Het
Cdc45	C	T	16: 18,626,029 (GRCm39)		probably null	Het
Cog4	A	G	8: 111,589,939 (GRCm39)	Y368C	probably damaging	Het
Cplx3	C	T	9: 57,523,258 (GRCm39)	V100M	probably damaging	Het
Cyp4a12b	C	G	4: 115,290,994 (GRCm39)	H341D	probably damaging	Het
Ddx10	A	T	9: 53,120,987 (GRCm39)		probably null	Het
Dnah12	A	T	14: 26,431,424 (GRCm39)	Y414F	probably benign	Het
Dync1h1	A	G	12: 110,595,496 (GRCm39)	K1445R	probably benign	Het
Dync2h1	A	C	9: 7,148,659 (GRCm39)	D928E	probably benign	Het
Dzip1	T	A	14: 119,124,644 (GRCm39)		probably null	Het
Fam8a1	T	A	13: 46,827,814 (GRCm39)	L334H	probably damaging	Het
Fgf14	T	C	14: 124,429,828 (GRCm39)	N36D	probably benign	Het
Fmnl3	A	T	15: 99,219,743 (GRCm39)	F668L	probably damaging	Het
Foxl2	C	T	9: 98,838,048 (GRCm39)	P112L	probably damaging	Het
Foxp2	T	G	6: 15,197,112 (GRCm39)	H51Q	probably damaging	Het
Frem3	A	T	8: 81,339,323 (GRCm39)	T539S	probably benign	Het
Ftcd	G	T	10: 76,423,937 (GRCm39)	G493C	probably damaging	Het
Gab2	A	G	7: 96,948,099 (GRCm39)	S230G	probably benign	Het
Gabra1	A	T	11: 42,073,750 (GRCm39)		probably null	Het
Gm14496	A	T	2: 181,637,975 (GRCm39)	I350L	probably benign	Het
Idh2	A	C	7: 79,747,996 (GRCm39)	C235G	probably damaging	Het
Ift140	C	T	17: 25,264,038 (GRCm39)	L514F	probably damaging	Het
Itgb4	C	T	11: 115,874,983 (GRCm39)	R447W	probably benign	Het
Lamc3	C	A	2: 31,815,729 (GRCm39)	R1142S	probably benign	Het
Lmod2	A	T	6: 24,603,853 (GRCm39)	H276L	possibly damaging	Het
Lrrc37a	T	A	11: 103,389,381 (GRCm39)	I2015L	probably benign	Het
Mcf2l	A	G	8: 13,060,444 (GRCm39)	E764G	probably damaging	Het
Mcph1	G	A	8: 18,838,326 (GRCm39)	M749I	probably benign	Het
Msh2	C	T	17: 88,026,871 (GRCm39)	A789V	possibly damaging	Het
Ndufa2	T	C	18: 36,877,519 (GRCm39)	I19V	probably benign	Het
Neurod4	T	A	10: 130,107,002 (GRCm39)	K91*	probably null	Het
Nos1	G	T	5: 118,061,322 (GRCm39)	G883C	probably damaging	Het
Npdc1	A	T	2: 25,297,692 (GRCm39)	H121L	possibly damaging	Het
Or2ak5	G	A	11: 58,611,077 (GRCm39)	H266Y	probably damaging	Het
Or3a10	A	C	11: 73,935,160 (GRCm39)	Y313*	probably null	Het
Orc1	A	G	4: 108,450,636 (GRCm39)	I123V	probably benign	Het
P2ry13	C	T	3: 59,117,260 (GRCm39)	V173M	possibly damaging	Het
Pigk	T	A	3: 152,445,858 (GRCm39)	N156K	probably damaging	Het
Pik3ap1	A	T	19: 41,286,680 (GRCm39)	F569Y	possibly damaging	Het
Pla2g4c	T	A	7: 13,063,889 (GRCm39)		probably null	Het
Plk3	A	G	4: 116,988,677 (GRCm39)	L324P	probably damaging	Het
Pom121	A	G	5: 135,421,171 (GRCm39)	S260P	unknown	Het
Prkn	C	T	17: 11,456,536 (GRCm39)	A119V	probably damaging	Het
Prrt2	G	A	7: 126,618,574 (GRCm39)	A297V	probably damaging	Het
Prss47	A	T	13: 65,192,857 (GRCm39)	V308E	probably damaging	Het
Ptbp2	T	C	3: 119,517,806 (GRCm39)	I139V	probably benign	Het
Ptprz1	A	T	6: 22,999,772 (GRCm39)	M621L	probably benign	Het
Rab6a	G	A	7: 100,257,501 (GRCm39)		probably null	Het
Ranbp1	C	T	16: 18,059,669 (GRCm39)	D127N	probably damaging	Het
Rnpepl1	G	T	1: 92,847,032 (GRCm39)	R272L	probably damaging	Het
Slc27a2	T	C	2: 126,420,859 (GRCm39)	L314P	probably damaging	Het
Slc6a5	A	T	7: 49,606,218 (GRCm39)	M709L	probably benign	Het
Smarcc1	A	T	9: 109,986,412 (GRCm39)	S238C	probably null	Het
Snx29	C	T	16: 11,573,185 (GRCm39)	L476F	probably damaging	Het
Sorbs2	T	C	8: 46,194,618 (GRCm39)		probably null	Het
St6galnac2	T	C	11: 116,575,972 (GRCm39)	N160D	probably damaging	Het
Thsd7b	A	G	1: 129,556,671 (GRCm39)		probably null	Het
Trpc4ap	G	A	2: 155,495,547 (GRCm39)	T306I	possibly damaging	Het
Ubr5	T	G	15: 38,015,337 (GRCm39)	Y891S	probably damaging	Het
Vmn1r220	A	G	13: 23,368,298 (GRCm39)	F133L	probably benign	Het
Vmn1r56	T	A	7: 5,198,700 (GRCm39)	I306F	possibly damaging	Het
Vmn1r67	T	C	7: 10,181,315 (GRCm39)	V193A	probably benign	Het
Yipf1	T	A	4: 107,202,354 (GRCm39)	V239E	probably damaging	Het
Zfp7	G	T	15: 76,775,629 (GRCm39)	C557F	probably damaging	Het

Other mutations in Actr3b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02457:Actr3b	APN	5	26,054,160 (GRCm39)	splice site	probably null
IGL02582:Actr3b	APN	5	26,037,411 (GRCm39)	missense	probably benign	0.11
IGL02869:Actr3b	APN	5	26,037,433 (GRCm39)	missense	probably damaging	1.00
IGL02946:Actr3b	APN	5	26,053,481 (GRCm39)	missense	possibly damaging	0.50
R0443:Actr3b	UTSW	5	26,053,409 (GRCm39)	missense	probably damaging	0.99
R0446:Actr3b	UTSW	5	26,036,730 (GRCm39)	missense	probably damaging	0.98
R0727:Actr3b	UTSW	5	26,016,937 (GRCm39)	missense	possibly damaging	0.89
R1070:Actr3b	UTSW	5	26,053,491 (GRCm39)	splice site	probably benign
R1643:Actr3b	UTSW	5	26,017,009 (GRCm39)	missense	probably damaging	1.00
R1820:Actr3b	UTSW	5	26,054,156 (GRCm39)	critical splice donor site	probably null
R1837:Actr3b	UTSW	5	26,030,157 (GRCm39)	missense	probably benign	0.00
R1899:Actr3b	UTSW	5	26,034,536 (GRCm39)	missense	possibly damaging	0.71
R2041:Actr3b	UTSW	5	25,965,128 (GRCm39)	critical splice donor site	probably null
R2096:Actr3b	UTSW	5	26,036,743 (GRCm39)	nonsense	probably null
R2109:Actr3b	UTSW	5	26,036,709 (GRCm39)	missense	possibly damaging	0.89
R2256:Actr3b	UTSW	5	26,027,403 (GRCm39)	missense	possibly damaging	0.88
R3078:Actr3b	UTSW	5	26,027,440 (GRCm39)	missense	probably damaging	1.00
R5572:Actr3b	UTSW	5	26,014,886 (GRCm39)	missense	probably benign	0.00
R6190:Actr3b	UTSW	5	26,036,688 (GRCm39)	missense	probably benign
R6761:Actr3b	UTSW	5	26,030,137 (GRCm39)	missense	probably damaging	1.00
R7003:Actr3b	UTSW	5	26,003,461 (GRCm39)	missense	probably damaging	1.00
R7043:Actr3b	UTSW	5	26,054,936 (GRCm39)	missense	probably benign	0.40
R7649:Actr3b	UTSW	5	26,053,364 (GRCm39)	missense	probably benign	0.05
R7897:Actr3b	UTSW	5	26,036,657 (GRCm39)	missense	probably benign	0.37
R8691:Actr3b	UTSW	5	26,030,202 (GRCm39)	missense	possibly damaging	0.94
R9647:Actr3b	UTSW	5	26,037,408 (GRCm39)	missense	probably benign
R9797:Actr3b	UTSW	5	26,054,895 (GRCm39)	missense	probably benign	0.00
RF049:Actr3b	UTSW	5	26,053,486 (GRCm39)	critical splice donor site	probably benign

Predicted Primers

PCR Primer
(F):5'- GTCAGCTGAGGAATTCCAGG -3'
(R):5'- CCAGTGAAGCTTGGCTCTAC -3'

Sequencing Primer
(F):5'- AATTCCAGGGGATGCTGTGC -3'
(R):5'- GAAGCTTGGCTCTACCCCCAC -3'

Posted On

2016-11-09