Mutagenetix > Incidental Mutation

Incidental Mutation 'R8691:Actr3b'

668360

Institutional Source

Beutler Lab

Gene Symbol

Actr3b

Ensembl Gene

ENSMUSG00000056367

Gene Name

ARP3 actin-related protein 3B

Synonyms

Arp3b, ARP11

MMRRC Submission

068545-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.665) question?

Stock #

R8691 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

25964995-26055686 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 26030202 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Phenylalanine at position 177 (V177F)

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: V177F

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000085578
Gene: ENSMUSG00000056367
AA Change: V177F

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000128727
AA Change: V89F

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000121629
Gene: ENSMUSG00000056367
AA Change: V89F

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

98% (54/55)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110082J24Rik	G	T	5: 30,310,287 (GRCm39)	A24E	unknown	Het
Acap1	A	G	11: 69,781,003 (GRCm39)	L117P	probably damaging	Het
Actl6b	G	A	5: 137,565,585 (GRCm39)	G394S	probably damaging	Het
Adamts6	A	G	13: 104,450,839 (GRCm39)	T341A	probably benign	Het
Agbl4	G	T	4: 111,520,156 (GRCm39)	V474F	probably benign	Het
Atosa	A	T	9: 74,917,335 (GRCm39)	T652S	probably benign	Het
Bach1	T	C	16: 87,516,517 (GRCm39)	S353P	probably benign	Het
C1qtnf9	G	A	14: 61,017,141 (GRCm39)	D224N	probably damaging	Het
Camkmt	A	T	17: 85,421,260 (GRCm39)	N121Y	probably damaging	Het
Card6	A	T	15: 5,129,078 (GRCm39)	Y773N	possibly damaging	Het
Cbfa2t2	C	A	2: 154,342,403 (GRCm39)	P40T	possibly damaging	Het
Colec10	A	C	15: 54,298,420 (GRCm39)	E60D	probably benign	Het
Cspg4	T	C	9: 56,800,280 (GRCm39)	V1647A	probably benign	Het
Cyp2d34	A	G	15: 82,502,471 (GRCm39)	F222L	probably benign	Het
Dennd1b	A	T	1: 138,969,774 (GRCm39)	I97F	possibly damaging	Het
Deptor	A	C	15: 55,083,596 (GRCm39)	D388A	possibly damaging	Het
Dhx40	T	C	11: 86,690,419 (GRCm39)	K201E	possibly damaging	Het
Dnah6	G	A	6: 73,145,850 (GRCm39)	R854C	probably damaging	Het
Dock9	T	C	14: 121,877,517 (GRCm39)	I409V	possibly damaging	Het
Eif1ad16	T	G	12: 87,985,278 (GRCm39)	K88N	probably damaging	Het
Esp31	G	T	17: 38,955,592 (GRCm39)	L78F	possibly damaging	Het
Fam98c	A	T	7: 28,852,889 (GRCm39)	V48E	probably damaging	Het
Fcgbpl1	A	T	7: 27,853,264 (GRCm39)	E1517V	possibly damaging	Het
Fgfr1	A	T	8: 26,052,253 (GRCm39)	D193V	possibly damaging	Het
Furin	C	T	7: 80,041,775 (GRCm39)		probably benign	Het
Gm17078	A	T	14: 51,848,693 (GRCm39)	F15I	probably damaging	Het
Grid2	G	T	6: 63,480,321 (GRCm39)	R45L	probably damaging	Het
Hecw2	A	G	1: 53,904,223 (GRCm39)	V1175A	probably benign	Het
Hspa1b	T	C	17: 35,176,072 (GRCm39)	I638V	possibly damaging	Het
Ighv6-7	A	G	12: 114,419,304 (GRCm39)	V100A	probably benign	Het
Itch	G	T	2: 155,052,478 (GRCm39)	E693*	probably null	Het
Ivl	G	A	3: 92,478,823 (GRCm39)	S414L	unknown	Het
Kif5b	T	A	18: 6,225,787 (GRCm39)	N160I	probably benign	Het
Klhl5	A	G	5: 65,306,881 (GRCm39)		probably benign	Het
Lpin1	C	T	12: 16,623,660 (GRCm39)		probably benign	Het
Malsu1	C	A	6: 49,052,171 (GRCm39)	H130Q	probably benign	Het
Naip2	A	C	13: 100,297,676 (GRCm39)	L787V	probably damaging	Het
Nynrin	C	T	14: 56,110,106 (GRCm39)	R1738W	probably damaging	Het
Or11g27	A	G	14: 50,770,910 (GRCm39)	T14A	probably benign	Het
Or4e1	A	T	14: 52,701,358 (GRCm39)	I36N	possibly damaging	Het
Or51d1	C	T	7: 102,347,777 (GRCm39)	Q111*	probably null	Het
Or7e176	T	A	9: 20,171,747 (GRCm39)	S204T	probably benign	Het
Pclo	A	G	5: 14,571,706 (GRCm39)	T364A	unknown	Het
Phlda2	A	C	7: 143,056,206 (GRCm39)	S8A	probably benign	Het
Pou3f1	G	A	4: 124,551,549 (GRCm39)	G17E	unknown	Het
Ppfibp2	A	G	7: 107,346,785 (GRCm39)	D899G	probably damaging	Het
Pskh1	T	C	8: 106,639,833 (GRCm39)	V171A	probably damaging	Het
Rictor	A	G	15: 6,816,513 (GRCm39)	T1262A	probably damaging	Het
Rnf41	T	C	10: 128,274,077 (GRCm39)	V243A	probably benign	Het
Slc9c1	T	A	16: 45,427,182 (GRCm39)	N1162K	probably benign	Het
Spef2	A	T	15: 9,602,005 (GRCm39)	L1419*	probably null	Het
Tenm4	C	T	7: 96,555,148 (GRCm39)	P2618S	probably benign	Het
Tnc	A	G	4: 63,880,313 (GRCm39)	C1954R	probably damaging	Het
Ttll11	T	A	2: 35,674,161 (GRCm39)	I622F	probably damaging	Het
Utp25	T	C	1: 192,796,110 (GRCm39)	E673G	probably benign	Het
Vmn2r104	A	G	17: 20,262,110 (GRCm39)	I340T	probably damaging	Het
Vmn2r110	G	T	17: 20,803,404 (GRCm39)	D390E	probably benign	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
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
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'- GACCAGCTGAGCAGTGGC -3'
(R):5'- AAATTCGCATTGCCAAGGC -3'

Sequencing Primer
(F):5'- GCAGTGGCTTTTGATCTTCC -3'
(R):5'- AAGAAAGAGAGAGAGAAAGTCGGTC -3'

Posted On

2021-04-30