Mutagenetix > Incidental Mutation

Incidental Mutation 'R5429:Ppp2r5e'

427083

Institutional Source

Beutler Lab

Gene Symbol

Ppp2r5e

Ensembl Gene

ENSMUSG00000021051

Gene Name

protein phosphatase 2, regulatory subunit B', epsilon

Synonyms

B56beta, protein phosphatase 2A subunit beta, 4633401M22Rik

MMRRC Submission

042995-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5429 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

75450881-75596245 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 75453763 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 452 (D452V)

Ref Sequence

ENSEMBL: ENSMUSP00000021447 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021447] [ENSMUST00000220035]

AlphaFold

Q61151

Predicted Effect

probably damaging
Transcript: ENSMUST00000021447
AA Change: D452V

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000021447
Gene: ENSMUSG00000021051
AA Change: D452V

Domain	Start	End	E-Value	Type
low complexity region	18	41	N/A	INTRINSIC
Pfam:B56	48	453	3.2e-195	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000220035
AA Change: D418V

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the phosphatase 2A regulatory subunit B family. Protein phosphatase 2A is one of the four major Ser/Thr phosphatases, and it is implicated in the negative control of cell growth and division. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant regulatory subunit, that associates with a variety of regulatory subunits. The B regulatory subunit might modulate substrate selectivity and catalytic activity. This gene encodes an epsilon isoform of the regulatory subunit B56 subfamily. Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Aug 2013]

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410141K09Rik	G	A	13: 66,431,828	P199S	probably benign	Het
Akap13	T	G	7: 75,602,904	S261A	possibly damaging	Het
Ankrd34a	G	A	3: 96,597,521	G14R	probably damaging	Het
Auts2	G	A	5: 131,472,335	T289M	probably damaging	Het
Btaf1	G	A	19: 36,994,857	V1331I	possibly damaging	Het
Ciz1	T	A	2: 32,376,043	I609K	possibly damaging	Het
Clca3b	C	T	3: 144,846,459	V154I	probably damaging	Het
Csde1	A	G	3: 103,052,841	T564A	possibly damaging	Het
Csrnp2	A	G	15: 100,482,054	V452A	probably benign	Het
Ctnnd1	C	T	2: 84,616,789	V371M	probably damaging	Het
Dock6	T	C	9: 21,832,881	D677G	probably damaging	Het
Filip1l	A	T	16: 57,570,255	E402V	probably damaging	Het
Gad1-ps	G	A	10: 99,445,147		noncoding transcript	Het
Ghr	G	A	15: 3,388,675	Q37*	probably null	Het
Gm10770	C	T	2: 150,179,423	R58H	probably benign	Het
Gm12789	T	C	4: 101,989,961	Y148H	possibly damaging	Het
Herc4	T	A	10: 63,275,013	N234K	probably benign	Het
Itih3	A	G	14: 30,923,521	V10A	probably benign	Het
Kat14	T	A	2: 144,393,323	D234E	probably benign	Het
Kif13a	A	G	13: 46,772,769		probably null	Het
Kif2b	A	G	11: 91,577,229	V76A	probably benign	Het
Mboat1	A	G	13: 30,219,667	T150A	probably benign	Het
Mfsd1	T	A	3: 67,599,960	L398H	probably damaging	Het
Myt1l	G	A	12: 29,832,332	G509R	unknown	Het
Nfx1	T	C	4: 41,004,343	C705R	probably damaging	Het
Olfr318	T	A	11: 58,720,524	N175Y	probably damaging	Het
Olfr60	A	G	7: 140,345,273	F239L	possibly damaging	Het
Pcdh10	T	C	3: 45,384,200	S931P	probably benign	Het
Pdpk1	T	C	17: 24,091,560	E205G	probably benign	Het
Ppp2r2a	A	T	14: 67,023,756	F172I	probably damaging	Het
Rims2	A	T	15: 39,345,355	T185S	probably damaging	Het
Rpusd4	T	C	9: 35,272,602	V209A	probably benign	Het
Safb	T	C	17: 56,588,822	V20A	probably benign	Het
Scaf8	C	A	17: 3,197,110	P903T	probably benign	Het
Slc30a7	A	G	3: 116,006,925	S31P	possibly damaging	Het
Slc9b1	T	C	3: 135,373,263		probably null	Het
Sntb1	C	G	15: 55,642,795	G461R	probably damaging	Het
Tbc1d32	T	C	10: 56,027,993	D1226G	probably damaging	Het
Tlnrd1	G	T	7: 83,882,314	T303N	probably damaging	Het
Tmc1	G	T	19: 20,789,622	N738K	possibly damaging	Het
Tmem41a	A	G	16: 21,934,856	I255T	probably benign	Het
Trim7	G	A	11: 48,849,955	C293Y	probably damaging	Het
Trpc6	C	T	9: 8,634,074	Q385*	probably null	Het
Ttc39b	A	G	4: 83,243,953	I330T	possibly damaging	Het
Vil1	C	T	1: 74,432,331	T757I	probably benign	Het
Zfp462	T	C	4: 55,060,077	V1201A	probably damaging	Het
Zfp473	T	A	7: 44,732,848	E686V	possibly damaging	Het

Other mutations in Ppp2r5e

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02602:Ppp2r5e	APN	12	75493439	missense	probably damaging	1.00
IGL03398:Ppp2r5e	APN	12	75462405	missense	possibly damaging	0.73
IGL03402:Ppp2r5e	APN	12	75464893	missense	probably damaging	0.99
R0129:Ppp2r5e	UTSW	12	75462390	missense	probably damaging	1.00
R0466:Ppp2r5e	UTSW	12	75462442	splice site	probably benign
R0894:Ppp2r5e	UTSW	12	75469567	missense	probably damaging	1.00
R1452:Ppp2r5e	UTSW	12	75469536	splice site	probably benign
R1551:Ppp2r5e	UTSW	12	75469567	missense	probably damaging	1.00
R1614:Ppp2r5e	UTSW	12	75469567	missense	probably damaging	1.00
R1693:Ppp2r5e	UTSW	12	75469567	missense	probably damaging	1.00
R1844:Ppp2r5e	UTSW	12	75469766	missense	possibly damaging	0.81
R1864:Ppp2r5e	UTSW	12	75469567	missense	probably damaging	1.00
R1908:Ppp2r5e	UTSW	12	75469567	missense	probably damaging	1.00
R1909:Ppp2r5e	UTSW	12	75469567	missense	probably damaging	1.00
R1933:Ppp2r5e	UTSW	12	75469567	missense	probably damaging	1.00
R2181:Ppp2r5e	UTSW	12	75462324	missense	probably benign	0.08
R3084:Ppp2r5e	UTSW	12	75468616	missense	probably benign	0.23
R4212:Ppp2r5e	UTSW	12	75469551	missense	probably damaging	1.00
R4213:Ppp2r5e	UTSW	12	75469551	missense	probably damaging	1.00
R4680:Ppp2r5e	UTSW	12	75469759	missense	probably damaging	1.00
R4761:Ppp2r5e	UTSW	12	75593261	missense	possibly damaging	0.92
R5147:Ppp2r5e	UTSW	12	75469770	missense	probably damaging	0.96
R5262:Ppp2r5e	UTSW	12	75593271	missense	probably damaging	1.00
R5304:Ppp2r5e	UTSW	12	75515685	missense	possibly damaging	0.75
R5439:Ppp2r5e	UTSW	12	75493476	missense	probably benign
R7225:Ppp2r5e	UTSW	12	75468579	missense	probably damaging	0.96
R7453:Ppp2r5e	UTSW	12	75462342	missense	probably damaging	0.99
R7558:Ppp2r5e	UTSW	12	75464992	missense	probably damaging	1.00
R8017:Ppp2r5e	UTSW	12	75464929	missense	probably damaging	1.00
R8019:Ppp2r5e	UTSW	12	75464929	missense	probably damaging	1.00
R8902:Ppp2r5e	UTSW	12	75453796	missense	probably benign	0.19
R8969:Ppp2r5e	UTSW	12	75453718	missense	possibly damaging	0.72
R9144:Ppp2r5e	UTSW	12	75459694	missense	possibly damaging	0.95
R9228:Ppp2r5e	UTSW	12	75593289	nonsense	probably null
R9524:Ppp2r5e	UTSW	12	75462393	missense	possibly damaging	0.66

Predicted Primers

PCR Primer
(F):5'- TGTCCACACTTTGAAGTCCTTATG -3'
(R):5'- AGAAGCTGTCTGCCAACTGC -3'

Sequencing Primer
(F):5'- TTAGAGACAGGTATATACAGTGCTGC -3'
(R):5'- TGTCTGCCAACTGCTCCAGAG -3'

Posted On

2016-09-01