Mutagenetix > Incidental Mutation

Incidental Mutation 'R7649:Actr3b'

590684

Institutional Source

Beutler Lab

Gene Symbol

Actr3b

Ensembl Gene

ENSMUSG00000056367

Gene Name

ARP3 actin-related protein 3B

Synonyms

Arp3b, ARP11

MMRRC Submission

045646-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.728) question?

Stock #

R7649 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

25964995-26055686 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 26053364 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 319 (V319A)

Ref Sequence

ENSEMBL: ENSMUSP00000085578 (fasta)

Gene Model

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

AlphaFold

Q641P0

Predicted Effect

probably benign
Transcript: ENSMUST00000088244
AA Change: V319A

PolyPhen 2 Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000085578
Gene: ENSMUSG00000056367
AA Change: V319A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000128727
AA Change: V231A

PolyPhen 2 Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000121629
Gene: ENSMUSG00000056367
AA Change: V231A

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

98% (57/58)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam28	T	A	14: 68,872,282 (GRCm39)	Y320F	probably benign	Het
Adam4	T	C	12: 81,467,151 (GRCm39)	Y490C	probably damaging	Het
Ampd3	G	T	7: 110,377,049 (GRCm39)	L13F	probably benign	Het
Arhgap45	C	A	10: 79,866,835 (GRCm39)	Q1113K	probably benign	Het
Arid5b	T	C	10: 67,954,175 (GRCm39)	T370A	possibly damaging	Het
Arl15	A	G	13: 114,104,208 (GRCm39)	D115G	possibly damaging	Het
AW146154	G	A	7: 41,130,156 (GRCm39)	T320I	probably benign	Het
Cdh17	C	T	4: 11,814,698 (GRCm39)	P751L	probably damaging	Het
Chchd4	C	T	6: 91,444,754 (GRCm39)	R11Q	probably benign	Het
Clta	T	G	4: 44,025,494 (GRCm39)	I140R	possibly damaging	Het
Cnpy1	T	C	5: 28,412,282 (GRCm39)	T84A	probably benign	Het
Cpne5	T	C	17: 29,445,172 (GRCm39)	D44G	probably damaging	Het
Crkl	T	C	16: 17,270,366 (GRCm39)	S9P	unknown	Het
Csmd3	T	C	15: 47,532,539 (GRCm39)	D1641G		Het
Ctnnd2	A	G	15: 31,027,630 (GRCm39)	T1185A	probably benign	Het
Dlc1	A	T	8: 37,049,894 (GRCm39)	L607Q	probably damaging	Het
Dpy19l2	T	C	9: 24,607,459 (GRCm39)	M1V	probably null	Het
Dst	T	C	1: 34,206,778 (GRCm39)	V982A	probably benign	Het
Fam135b	T	C	15: 71,334,429 (GRCm39)	I922V	probably benign	Het
Fbxl13	T	C	5: 21,819,664 (GRCm39)	E245G	probably benign	Het
Fcgbp	T	C	7: 27,790,928 (GRCm39)	S730P	possibly damaging	Het
Ggt1	T	C	10: 75,421,290 (GRCm39)	V468A	possibly damaging	Het
Gja5	A	T	3: 96,958,957 (GRCm39)	H338L	probably benign	Het
Herpud2	T	C	9: 25,021,902 (GRCm39)	E248G	possibly damaging	Het
Il17rd	C	A	14: 26,761,167 (GRCm39)	A36E	probably benign	Het
Irf2bpl	T	C	12: 86,929,572 (GRCm39)	Y367C	possibly damaging	Het
Lama1	T	A	17: 68,044,549 (GRCm39)	D149E		Het
Lipf	A	T	19: 33,943,098 (GRCm39)	E135D	possibly damaging	Het
Manea	T	A	4: 26,328,234 (GRCm39)	D269V	probably damaging	Het
Megf6	A	G	4: 154,349,542 (GRCm39)	Y910C	probably damaging	Het
Mical3	G	A	6: 120,911,909 (GRCm39)	R1928W	probably damaging	Het
Or13c3	G	A	4: 52,855,692 (GRCm39)	Q274*	probably null	Het
Or5b108	T	A	19: 13,168,136 (GRCm39)	I35N	possibly damaging	Het
Plch1	G	T	3: 63,605,590 (GRCm39)	S1438*	probably null	Het
Por	T	C	5: 135,763,359 (GRCm39)	F595L	probably damaging	Het
Prkcg	G	A	7: 3,378,480 (GRCm39)	R634H	probably benign	Het
Prr14l	C	T	5: 32,985,589 (GRCm39)	G1302D	probably benign	Het
Rcan3	A	T	4: 135,139,799 (GRCm39)	S135T	probably benign	Het
Rnf223	A	G	4: 156,216,660 (GRCm39)	M12V	probably benign	Het
Rps6kb2	A	G	19: 4,207,020 (GRCm39)	S483P	unknown	Het
Sacs	T	A	14: 61,440,677 (GRCm39)	F908I	possibly damaging	Het
Slc4a9	A	G	18: 36,661,430 (GRCm39)	Q64R	probably benign	Het
Slco4c1	T	A	1: 96,756,667 (GRCm39)	I552F	probably benign	Het
Sppl2b	C	T	10: 80,703,253 (GRCm39)	P505L	probably benign	Het
Sptbn4	A	G	7: 27,061,002 (GRCm39)	S2434P	possibly damaging	Het
Ssh1	A	T	5: 114,088,612 (GRCm39)	M395K	probably benign	Het
Stk10	A	T	11: 32,527,764 (GRCm39)	I171F		Het
Tmx3	C	T	18: 90,558,154 (GRCm39)	A402V	probably damaging	Het
Tnfrsf13c	T	C	15: 82,108,341 (GRCm39)	D58G	possibly damaging	Het
Tnk1	T	C	11: 69,744,403 (GRCm39)		probably null	Het
Trav14n-3	A	T	14: 53,607,951 (GRCm39)	N94Y	probably damaging	Het
Trav5-4	A	T	14: 53,941,902 (GRCm39)	K92*	probably null	Het
Tsga10	C	T	1: 37,874,229 (GRCm39)	R190H	unknown	Het
Zfhx3	T	C	8: 109,678,276 (GRCm39)	F3109L	probably benign	Het
Zfhx4	A	G	3: 5,307,170 (GRCm39)	Y132C	probably damaging	Het
Zfp521	T	C	18: 13,977,413 (GRCm39)	E1000G	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
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
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'- TCAGCTGAGGAATTCCAGGG -3'
(R):5'- CCAGTGAAGCTTGGCTCTAC -3'

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

Posted On

2019-10-24