Mutagenetix > Incidental Mutation

Incidental Mutation 'R0727:Actr3b'

200633

Institutional Source

Beutler Lab

Gene Symbol

Actr3b

Ensembl Gene

ENSMUSG00000056367

Gene Name

ARP3 actin-related protein 3B

Synonyms

Arp3b, ARP11

MMRRC Submission

038909-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.728) question?

Stock #

R0727 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

25964995-26055686 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 26016937 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 83 (V83A)

Ref Sequence

ENSEMBL: ENSMUSP00000085578 (fasta)

Gene Model

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

AlphaFold

Q641P0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000088244
AA Change: V83A

PolyPhen 2 Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000085578
Gene: ENSMUSG00000056367
AA Change: V83A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000128727

SMART Domains

Protein: ENSMUSP00000121629
Gene: ENSMUSG00000056367

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

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.2%
20x: 92.1%

Validation Efficiency

99% (70/71)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam2	A	G	14: 66,267,180 (GRCm39)	I693T	probably damaging	Het
Adamts1	T	C	16: 85,595,536 (GRCm39)	D214G	possibly damaging	Het
Atp6v1h	T	A	1: 5,154,781 (GRCm39)	Y36*	probably null	Het
Cacna1d	A	G	14: 29,852,072 (GRCm39)		probably null	Het
Catsperb	G	T	12: 101,560,614 (GRCm39)		probably null	Het
Ccdc88b	T	C	19: 6,831,582 (GRCm39)	M482V	probably benign	Het
Cemip	T	C	7: 83,610,786 (GRCm39)	K723E	probably benign	Het
Cep112	G	A	11: 108,397,380 (GRCm39)	R375H	probably damaging	Het
Cpne7	T	C	8: 123,853,025 (GRCm39)	S211P	probably damaging	Het
Csde1	A	G	3: 102,950,954 (GRCm39)	T191A	probably benign	Het
Dapk3	A	G	10: 81,026,096 (GRCm39)	Y129C	probably damaging	Het
Dlc1	A	G	8: 37,039,828 (GRCm39)	V1027A	probably damaging	Het
Ergic2	T	A	6: 148,100,898 (GRCm39)		probably benign	Het
Evpl	T	C	11: 116,123,311 (GRCm39)	H307R	probably damaging	Het
Faah	A	G	4: 115,862,257 (GRCm39)	I242T	probably damaging	Het
Farsa	T	A	8: 85,587,933 (GRCm39)		probably null	Het
Fat3	A	C	9: 15,907,995 (GRCm39)	L2669R	probably damaging	Het
Fgfr4	C	A	13: 55,304,041 (GRCm39)		probably null	Het
Gnl3	A	G	14: 30,739,034 (GRCm39)	S55P	probably damaging	Het
Grhl3	T	A	4: 135,273,565 (GRCm39)	K562N	possibly damaging	Het
H2bl1	A	G	13: 99,120,735 (GRCm39)	V97A	probably benign	Het
Hoxa9	A	G	6: 52,201,294 (GRCm39)	V249A	probably damaging	Het
Hyal1	T	C	9: 107,455,601 (GRCm39)	S304P	possibly damaging	Het
Igf1r	T	C	7: 67,861,906 (GRCm39)		probably null	Het
Kif3c	A	G	12: 3,416,776 (GRCm39)	T266A	probably benign	Het
Lrp1b	T	C	2: 40,640,956 (GRCm39)	D3496G	probably benign	Het
Man2b1	T	G	8: 85,818,155 (GRCm39)	V442G	probably damaging	Het
Mast1	T	C	8: 85,648,044 (GRCm39)	Y479C	probably damaging	Het
Mei1	A	G	15: 81,954,350 (GRCm39)	T52A	probably benign	Het
Micall1	A	G	15: 79,004,978 (GRCm39)	D150G	probably benign	Het
Muc4	A	G	16: 32,590,221 (GRCm39)	M2927V	probably benign	Het
Obi1	G	C	14: 104,717,624 (GRCm39)	L250V	probably damaging	Het
Or11h6	G	T	14: 50,880,460 (GRCm39)	V241L	probably damaging	Het
Or56b1b	C	T	7: 108,164,315 (GRCm39)	R229H	probably benign	Het
Or5an10	T	C	19: 12,276,458 (GRCm39)	I13V	probably benign	Het
Or5w22	T	A	2: 87,363,245 (GRCm39)	Y289*	probably null	Het
Or8k27	T	C	2: 86,276,282 (GRCm39)	M15V	probably benign	Het
Or8k35	A	T	2: 86,424,724 (GRCm39)	Y149*	probably null	Het
Pabpc2	A	C	18: 39,908,187 (GRCm39)	Q484P	probably benign	Het
Pbld2	T	A	10: 62,903,298 (GRCm39)	V125D	probably benign	Het
Pkhd1l1	A	G	15: 44,399,184 (GRCm39)	T2083A	possibly damaging	Het
Pum2	A	G	12: 8,794,465 (GRCm39)	E785G	probably damaging	Het
Qser1	A	G	2: 104,607,656 (GRCm39)		probably benign	Het
R3hcc1l	A	G	19: 42,564,514 (GRCm39)	D29G	probably damaging	Het
Rabep1	T	A	11: 70,791,318 (GRCm39)	Y180*	probably null	Het
Rassf5	T	C	1: 131,109,002 (GRCm39)	S140G	probably damaging	Het
Rbpms2	ACTGCTGCTGCTGCTGC	ACTGCTGCTGCTGCTGCTGC	9: 65,558,948 (GRCm39)		probably benign	Het
Resf1	A	G	6: 149,227,320 (GRCm39)	N122S	possibly damaging	Het
Rfpl4	T	A	7: 5,118,292 (GRCm39)	I93L	probably benign	Het
Ryr2	C	T	13: 11,581,771 (GRCm39)	G4798D	probably damaging	Het
Scaf11	G	A	15: 96,317,324 (GRCm39)	P747S	probably damaging	Het
Sgo2b	T	G	8: 64,380,816 (GRCm39)	K672T	probably damaging	Het
Smg1	T	C	7: 117,765,645 (GRCm39)		probably benign	Het
Sned1	G	A	1: 93,209,376 (GRCm39)	V830M	possibly damaging	Het
Ssh3	G	T	19: 4,314,019 (GRCm39)	H439Q	probably damaging	Het
Steap3	T	A	1: 120,155,547 (GRCm39)	T471S	possibly damaging	Het
Stk33	T	A	7: 108,920,725 (GRCm39)	I208L	probably damaging	Het
Sucnr1	A	G	3: 59,994,081 (GRCm39)	Y203C	probably benign	Het
Tlr11	T	C	14: 50,598,926 (GRCm39)	I304T	possibly damaging	Het
Top2a	A	T	11: 98,902,974 (GRCm39)	C404*	probably null	Het
Trim43a	G	A	9: 88,464,199 (GRCm39)	E37K	probably benign	Het
Zcwpw1	T	C	5: 137,809,069 (GRCm39)		probably benign	Het
Zfhx4	A	T	3: 5,466,133 (GRCm39)	H2097L	probably damaging	Het
Zfp874b	T	C	13: 67,622,831 (GRCm39)	K156E	probably damaging	Het
Zfyve16	T	C	13: 92,630,386 (GRCm39)	K1413E	possibly 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
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
R5655:Actr3b	UTSW	5	26,053,366 (GRCm39)	missense	probably damaging	1.00
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'- GACTGAGAGGCACTGCCGTAAATAC -3'
(R):5'- TCCCAAAGCTGATGATCCGAGGAG -3'

Sequencing Primer
(F):5'- GCCGTAAATACTCGTATGTTGC -3'
(R):5'- CATGCCAAAGTCTTTAGCAGG -3'

Posted On

2014-05-23