Mutagenetix > Incidental Mutation

Incidental Mutation 'R1240:Arpc3'

151928

Institutional Source

Beutler Lab

Gene Symbol

Arpc3

Ensembl Gene

ENSMUSG00000029465

Gene Name

actin related protein 2/3 complex, subunit 3

Synonyms

1110006A04Rik, p21-Ar, Arp2/3 complex subunit p21-Arc

MMRRC Submission

039307-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1240 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

122529941-122544244 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 122542242 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 88 (F88S)

Ref Sequence

ENSEMBL: ENSMUSP00000107342 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031421] [ENSMUST00000102525] [ENSMUST00000111713] [ENSMUST00000111716]

AlphaFold

Q9JM76

Predicted Effect

probably damaging
Transcript: ENSMUST00000031421
AA Change: F95S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000031421
Gene: ENSMUSG00000029465
AA Change: F95S

Domain	Start	End	E-Value	Type
Pfam:P21-Arc	1	165	5.6e-81	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000102525
AA Change: F103S

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

SMART Domains

Protein: ENSMUSP00000099584
Gene: ENSMUSG00000029465
AA Change: F103S

Domain	Start	End	E-Value	Type
Pfam:P21-Arc	1	173	1.6e-85	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000111713
AA Change: F88S

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

SMART Domains

Protein: ENSMUSP00000107342
Gene: ENSMUSG00000029465
AA Change: F88S

Domain	Start	End	E-Value	Type
Pfam:P21-Arc	5	158	2.5e-71	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000111716
AA Change: F86S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000107345
Gene: ENSMUSG00000029465
AA Change: F86S

Domain	Start	End	E-Value	Type
Pfam:P21-Arc	4	156	2.7e-71	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126247

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148913

Predicted Effect

unknown
Transcript: ENSMUST00000196969
AA Change: F84S

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198417

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.8%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes one of seven subunits of the human Arp2/3 protein complex. The Arp2/3 protein complex has been conserved through evolution and is implicated in the control of actin polymerization in cells. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2013]
PHENOTYPE: Mice homozygous for a transposon-induced allele develop only to the blastocyst stage and show defects in trophoblast outgrowth and in the dynamics of actin accumulation. Mice heterozygous for the same transposon-induced allele and a knock-out allele showimpaired trophoblast outgrowth activity. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb9	T	G	5: 124,227,984 (GRCm39)	I86L	probably benign	Het
Ankfn1	A	G	11: 89,282,960 (GRCm39)	L229P	probably damaging	Het
Aoc1	T	C	6: 48,882,549 (GRCm39)	S164P	probably benign	Het
Arhgef28	C	T	13: 98,066,000 (GRCm39)	V1618I	probably benign	Het
Asgr2	G	T	11: 69,987,676 (GRCm39)	R58L	possibly damaging	Het
Bach2	T	C	4: 32,563,198 (GRCm39)	F432S	probably damaging	Het
Brms1l	C	A	12: 55,891,293 (GRCm39)	R116S	probably damaging	Het
Casp2	T	A	6: 42,245,879 (GRCm39)	C179S	probably damaging	Het
Ccdc73	A	T	2: 104,821,906 (GRCm39)	E618D	probably benign	Het
Cdh6	T	A	15: 13,057,541 (GRCm39)	D260V	possibly damaging	Het
Cenpc1	G	T	5: 86,183,369 (GRCm39)	N473K	probably benign	Het
Chst2	T	C	9: 95,287,536 (GRCm39)	E270G	possibly damaging	Het
Chst9	C	T	18: 15,586,231 (GRCm39)	E111K	probably benign	Het
Cyp3a44	T	G	5: 145,711,250 (GRCm39)	I474L	probably benign	Het
Dbr1	G	T	9: 99,466,073 (GRCm39)	E550D	probably benign	Het
Dph6	T	C	2: 114,475,199 (GRCm39)		probably null	Het
Fam227b	T	A	2: 125,966,505 (GRCm39)	I136L	possibly damaging	Het
Fcgbp	A	G	7: 27,819,950 (GRCm39)	N2559S	probably damaging	Het
Fh1	A	T	1: 175,431,581 (GRCm39)	I435N	probably damaging	Het
Gab1	A	C	8: 81,515,159 (GRCm39)	S386R	probably damaging	Het
Gkn1	T	A	6: 87,326,098 (GRCm39)	N31Y	probably damaging	Het
Grk2	A	G	19: 4,340,707 (GRCm39)	C251R	probably damaging	Het
H2-DMa	G	T	17: 34,357,380 (GRCm39)		probably null	Het
Hp1bp3	T	C	4: 137,957,009 (GRCm39)	S63P	probably damaging	Het
Ift74	A	G	4: 94,581,174 (GRCm39)		probably null	Het
Inf2	G	A	12: 112,577,210 (GRCm39)	R1018Q	unknown	Het
Kat2b	A	G	17: 53,931,425 (GRCm39)	D141G	probably benign	Het
Klhl30	T	C	1: 91,288,737 (GRCm39)	S499P	probably benign	Het
Lama2	A	C	10: 26,917,120 (GRCm39)	D2268E	probably damaging	Het
Lsmem1	GTACATACATACATACATACATACATACA	GTACATACATACATACATACATACATACATACA	12: 40,235,260 (GRCm39)		probably null	Het
Marf1	T	C	16: 13,964,626 (GRCm39)	N258S	possibly damaging	Het
Mc1r	T	A	8: 124,134,999 (GRCm39)	C251S	probably damaging	Het
Myo15b	C	A	11: 115,771,327 (GRCm39)	Q257K	possibly damaging	Het
Nbeal2	A	G	9: 110,456,176 (GRCm39)	F2431S	probably damaging	Het
Neb	T	A	2: 52,186,321 (GRCm39)	H917L	possibly damaging	Het
Nlrp1a	A	G	11: 71,004,292 (GRCm39)		probably null	Het
Nr1d2	A	T	14: 18,211,891 (GRCm38)	M404K	probably benign	Het
Or4b1d	T	G	2: 89,969,157 (GRCm39)	I109L	possibly damaging	Het
Or8u8	T	G	2: 86,012,453 (GRCm39)	M1L	possibly damaging	Het
Otoa	T	C	7: 120,755,713 (GRCm39)	S1040P	probably benign	Het
Pctp	T	C	11: 89,893,640 (GRCm39)	D10G	probably benign	Het
Pja2	G	T	17: 64,616,613 (GRCm39)	T94K	probably benign	Het
Plxna1	C	T	6: 89,298,032 (GRCm39)	V1749M	probably damaging	Het
Prdm15	C	T	16: 97,638,800 (GRCm39)	E87K	probably damaging	Het
Rgsl1	A	G	1: 153,660,937 (GRCm39)	F1028L	probably benign	Het
Sepsecs	T	C	5: 52,818,021 (GRCm39)	N252S	probably damaging	Het
Skint5	A	T	4: 113,574,304 (GRCm39)	L749Q	unknown	Het
Slc22a22	G	A	15: 57,114,268 (GRCm39)	S353F	probably benign	Het
Slc49a4	A	G	16: 35,518,379 (GRCm39)	F445L	probably benign	Het
Slc7a13	A	T	4: 19,819,212 (GRCm39)	K137N	probably damaging	Het
Snx13	G	T	12: 35,141,405 (GRCm39)	V163L	probably damaging	Het
Synrg	A	T	11: 83,914,182 (GRCm39)	T1115S	probably damaging	Het
Tenm3	A	G	8: 48,740,928 (GRCm39)	V1185A	possibly damaging	Het
Tent5b	T	C	4: 133,213,815 (GRCm39)	F229L	probably benign	Het
Tg	T	A	15: 66,700,397 (GRCm39)	N118K	probably benign	Het
Top1mt	T	C	15: 75,541,916 (GRCm39)	K153E	probably damaging	Het
Trmt11	T	C	10: 30,466,821 (GRCm39)		probably benign	Het
Unc80	A	G	1: 66,675,061 (GRCm39)	D1953G	possibly damaging	Het
Vmn2r25	T	A	6: 123,828,864 (GRCm39)	S137C	probably damaging	Het
Vwf	C	A	6: 125,580,271 (GRCm39)		probably null	Het

Other mutations in Arpc3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01998:Arpc3	APN	5	122,541,470 (GRCm39)	missense	probably damaging	1.00
IGL03201:Arpc3	APN	5	122,539,781 (GRCm39)	missense	probably damaging	1.00
R4704:Arpc3	UTSW	5	122,538,471 (GRCm39)	start codon destroyed	probably null	0.00
R4797:Arpc3	UTSW	5	122,542,215 (GRCm39)	missense	possibly damaging	0.72
R5946:Arpc3	UTSW	5	122,541,459 (GRCm39)	missense	probably damaging	1.00
RF022:Arpc3	UTSW	5	122,538,489 (GRCm39)	missense	probably benign	0.07
Z1176:Arpc3	UTSW	5	122,542,293 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGCAGACGGGCACTCACAGAAC -3'
(R):5'- CTGTCAATCTGAGCACCAGCCAG -3'

Sequencing Primer
(F):5'- GCACTCACAGAACACCCAC -3'
(R):5'- gaccaaagacccaaaaccaac -3'

Posted On

2014-01-29