Mutagenetix > Incidental Mutation

Incidental Mutation 'R9542:Actr2'

719945

Institutional Source

Beutler Lab

Gene Symbol

Actr2

Ensembl Gene

ENSMUSG00000020152

Gene Name

ARP2 actin-related protein 2

Synonyms

4921510D23Rik, Arp2, D6Ertd746e

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.954) question?

Stock #

R9542 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

20012304-20062913 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 20044350 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Isoleucine at position 85 (M85I)

Ref Sequence

ENSEMBL: ENSMUSP00000000137 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000000137]

AlphaFold

P61161

Predicted Effect

probably benign
Transcript: ENSMUST00000000137
AA Change: M85I

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000000137
Gene: ENSMUSG00000020152
AA Change: M85I

Domain	Start	End	E-Value	Type
ACTIN	6	390	2.78e-208	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.4%

Validation Efficiency

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. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice heterozygous for this mutation exhibit modifies lethality associated with F5 null Tfpi heterozygous mice. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acbd6	T	C	1: 155,443,356 (GRCm39)	S105P	probably benign	Het
Acot12	G	A	13: 91,931,110 (GRCm39)	V453M	probably damaging	Het
Anxa9	T	C	3: 95,210,379 (GRCm39)	D62G	probably benign	Het
Arnt	C	T	3: 95,397,954 (GRCm39)	A599V	probably benign	Het
Ash1l	A	G	3: 88,950,566 (GRCm39)	E2153G	probably damaging	Het
Asic5	A	T	3: 81,911,850 (GRCm39)	T149S	probably benign	Het
Atcay	G	A	10: 81,043,686 (GRCm39)	T353I	unknown	Het
Aven	T	C	2: 112,455,517 (GRCm39)	F143L	probably damaging	Het
BB014433	GCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTACACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGG	GCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGG	8: 15,092,160 (GRCm39)		probably benign	Het
BC024139	T	A	15: 76,009,715 (GRCm39)	L149F	probably damaging	Het
C3	T	C	17: 57,532,037 (GRCm39)	Y228C	probably damaging	Het
Cacna1d	A	G	14: 29,845,316 (GRCm39)	F640L	probably benign	Het
Ccdc187	T	C	2: 26,145,930 (GRCm39)	R1220G	possibly damaging	Het
Cdc42bpb	G	A	12: 111,268,508 (GRCm39)	Q1231*	probably null	Het
Cdh20	T	A	1: 104,875,067 (GRCm39)	V283E	probably damaging	Het
Cep63	T	C	9: 102,484,533 (GRCm39)	I241V	probably benign	Het
Dis3	A	G	14: 99,316,975 (GRCm39)	V787A	probably damaging	Het
Dock9	A	G	14: 121,864,775 (GRCm39)	F727S	probably damaging	Het
Eif5b	G	T	1: 38,057,131 (GRCm39)	E63*	probably null	Het
Fanca	A	G	8: 124,023,078 (GRCm39)	V553A	probably damaging	Het
Flacc1	C	T	1: 58,717,504 (GRCm39)	A136T	probably benign	Het
Gm37240	A	C	3: 84,417,196 (GRCm39)	H174Q	probably benign	Het
Kcnc4	C	T	3: 107,365,571 (GRCm39)	W212*	probably null	Het
Myh2	G	A	11: 67,072,002 (GRCm39)	E577K	possibly damaging	Het
Ncoa1	C	T	12: 4,325,178 (GRCm39)	V967I	possibly damaging	Het
Nmur2	T	C	11: 55,931,649 (GRCm39)	T21A	probably damaging	Het
Nrde2	A	G	12: 100,110,426 (GRCm39)	C197R	probably damaging	Het
Or2m12	A	T	16: 19,104,943 (GRCm39)	D183E	probably benign	Het
Or2o1	C	A	11: 49,051,073 (GRCm39)	C77*	probably null	Het
Or52ad1	T	C	7: 102,995,569 (GRCm39)	I189V	probably benign	Het
Or8h7	G	T	2: 86,720,813 (GRCm39)	H235Q	probably benign	Het
Pard3b	C	T	1: 62,250,786 (GRCm39)	R572*	probably null	Het
Pdcd6ip	T	C	9: 113,520,589 (GRCm39)	S132G	probably damaging	Het
Pdzrn3	A	T	6: 101,149,235 (GRCm39)	F364L	probably benign	Het
Pfpl	G	C	19: 12,406,297 (GRCm39)	E183Q	probably damaging	Het
Pgr	G	T	9: 8,901,532 (GRCm39)	C355F	possibly damaging	Het
Pkhd1	T	G	1: 20,188,004 (GRCm39)	S3435R	probably damaging	Het
Pkhd1l1	A	G	15: 44,410,284 (GRCm39)	D2597G	probably benign	Het
Pramel30	T	C	4: 144,057,095 (GRCm39)	Y93H	possibly damaging	Het
Prrc2c	T	C	1: 162,508,359 (GRCm39)	E2410G	possibly damaging	Het
Rpap2	C	G	5: 107,768,180 (GRCm39)	S339R	probably benign	Het
Rrp36	G	C	17: 46,983,492 (GRCm39)	R69G	possibly damaging	Het
Rrp8	T	C	7: 105,382,606 (GRCm39)	T449A	probably benign	Het
Scn3a	T	C	2: 65,366,860 (GRCm39)	D54G	probably damaging	Het
Serinc2	C	T	4: 130,152,516 (GRCm39)	W228*	probably null	Het
Serpinb9g	A	G	13: 33,679,141 (GRCm39)	K337R	probably benign	Het
Slc28a2b	A	T	2: 122,324,822 (GRCm39)	K131N	probably benign	Het
Spata31	A	T	13: 65,070,077 (GRCm39)	I742F	probably damaging	Het
Speg	C	T	1: 75,399,426 (GRCm39)	P2291L	probably benign	Het
Ss18l2	T	A	9: 121,541,666 (GRCm39)	L61*	probably null	Het
Suco	C	T	1: 161,661,668 (GRCm39)	R921H	probably damaging	Het
Taok2	A	T	7: 126,466,008 (GRCm39)	I910N	probably damaging	Het
Tmem18	G	A	12: 30,638,557 (GRCm39)	M106I		Het
Tob1	T	G	11: 94,105,234 (GRCm39)	S257A	unknown	Het
Trim67	G	C	8: 125,521,497 (GRCm39)	K286N	possibly damaging	Het
Trmt112	A	G	19: 6,887,956 (GRCm39)	N62S	probably benign	Het
Tsc2	C	T	17: 24,819,308 (GRCm39)		probably null	Het
Ttn	C	T	2: 76,715,357 (GRCm39)	E7912K	unknown	Het
Ube2j1	G	T	4: 33,040,793 (GRCm39)	E100*	probably null	Het
Urgcp	A	T	11: 5,667,517 (GRCm39)	F317I	possibly damaging	Het
Vps9d1	A	T	8: 123,970,522 (GRCm39)	D588E	probably damaging	Het
Wdr38	A	T	2: 38,890,210 (GRCm39)	T115S	probably damaging	Het
Zfp119a	G	A	17: 56,172,593 (GRCm39)	Q417*	probably null	Het
Zfp687	C	T	3: 94,916,442 (GRCm39)	C860Y	probably damaging	Het
Zmym4	T	C	4: 126,799,164 (GRCm39)	N724S	probably benign	Het

Other mutations in Actr2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00087:Actr2	APN	11	20,044,370 (GRCm39)	missense	probably benign	0.03
IGL00164:Actr2	APN	11	20,030,015 (GRCm39)	splice site	probably benign
IGL00566:Actr2	APN	11	20,022,487 (GRCm39)	missense	possibly damaging	0.92
IGL00822:Actr2	APN	11	20,044,367 (GRCm39)	missense	probably damaging	1.00
IGL02993:Actr2	APN	11	20,022,514 (GRCm39)	missense	probably damaging	1.00
IGL03330:Actr2	APN	11	20,041,330 (GRCm39)	missense	probably benign	0.01
R0092:Actr2	UTSW	11	20,044,308 (GRCm39)	missense	probably benign	0.00
R0129:Actr2	UTSW	11	20,050,939 (GRCm39)	splice site	probably benign
R0513:Actr2	UTSW	11	20,030,124 (GRCm39)	missense	probably damaging	1.00
R0848:Actr2	UTSW	11	20,022,584 (GRCm39)	missense	probably benign	0.02
R0863:Actr2	UTSW	11	20,030,760 (GRCm39)	missense	probably benign	0.00
R5175:Actr2	UTSW	11	20,030,114 (GRCm39)	missense	probably benign	0.25
R5364:Actr2	UTSW	11	20,050,797 (GRCm39)	intron	probably benign
R6544:Actr2	UTSW	11	20,050,933 (GRCm39)	missense	probably damaging	1.00
R7330:Actr2	UTSW	11	20,022,544 (GRCm39)	missense	probably damaging	1.00
R8340:Actr2	UTSW	11	20,044,435 (GRCm39)	missense	possibly damaging	0.52
R9599:Actr2	UTSW	11	20,030,745 (GRCm39)	missense	probably damaging	1.00
X0021:Actr2	UTSW	11	20,030,702 (GRCm39)	missense	probably damaging	0.99
X0066:Actr2	UTSW	11	20,030,066 (GRCm39)	missense	probably benign	0.05
X0066:Actr2	UTSW	11	20,030,065 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TCCTTTGCAGCAGAAGCAG -3'
(R):5'- GAATCATTCCTGAGTTTTCTGAGCTG -3'

Sequencing Primer
(F):5'- GCCAATCAAAACTTACCTCT -3'
(R):5'- CTGAGCTGCAGGAATATCATTTTC -3'

Posted On

2022-07-18