Mutagenetix > Incidental Mutation

Incidental Mutation 'R1844:Ppp2r5e'

207576

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

039869-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1844 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

75497655-75643019 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 75516540 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 216 (F216I)

Ref Sequence

ENSEMBL: ENSMUSP00000021447 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021447] [ENSMUST00000218012] [ENSMUST00000220035]

AlphaFold

Q61151

Predicted Effect

possibly damaging
Transcript: ENSMUST00000021447
AA Change: F216I

PolyPhen 2 Score 0.814 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000021447
Gene: ENSMUSG00000021051
AA Change: F216I

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 benign
Transcript: ENSMUST00000218012

Predicted Effect

possibly damaging
Transcript: ENSMUST00000220035
AA Change: F182I

PolyPhen 2 Score 0.621 (Sensitivity: 0.87; Specificity: 0.91)

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.2%
20x: 92.1%

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aco1	A	G	4: 40,197,566 (GRCm39)	K857E	probably benign	Het
Adam20	A	G	8: 41,249,080 (GRCm39)	N397D	probably benign	Het
Adgrf3	T	G	5: 30,404,211 (GRCm39)	D347A	probably damaging	Het
Ang6	C	T	14: 44,239,330 (GRCm39)	E133K	possibly damaging	Het
Arhgap23	T	A	11: 97,354,234 (GRCm39)	W205R	probably damaging	Het
Arhgef40	C	A	14: 52,235,080 (GRCm39)	R1086S	probably damaging	Het
Atr	G	T	9: 95,787,870 (GRCm39)	A1488S	probably benign	Het
Cabin1	A	T	10: 75,579,184 (GRCm39)		probably null	Het
Cby2	C	T	14: 75,820,850 (GRCm39)	V292I	probably benign	Het
Cdh22	A	C	2: 164,985,614 (GRCm39)	F324C	probably damaging	Het
Cep350	T	C	1: 155,724,374 (GRCm39)	I3075V	probably damaging	Het
Chd9	A	T	8: 91,683,323 (GRCm39)	K588*	probably null	Het
Clns1a	A	T	7: 97,346,066 (GRCm39)	I44F	probably damaging	Het
Colgalt1	T	C	8: 72,063,995 (GRCm39)	I51T	possibly damaging	Het
Cpt2	C	T	4: 107,761,452 (GRCm39)	E217K	possibly damaging	Het
Ctss	A	G	3: 95,454,105 (GRCm39)		probably null	Het
Cyp1a1	A	G	9: 57,609,980 (GRCm39)	T465A	probably benign	Het
Dbn1	A	G	13: 55,629,160 (GRCm39)		probably null	Het
Dennd1b	A	G	1: 139,018,143 (GRCm39)		probably null	Het
Dnajc1	A	C	2: 18,298,838 (GRCm39)	Y49*	probably null	Het
Dock10	T	A	1: 80,520,918 (GRCm39)	I1188L	probably damaging	Het
Dsg1c	T	G	18: 20,416,096 (GRCm39)		probably null	Het
Efcab6	G	A	15: 83,851,822 (GRCm39)	T352I	possibly damaging	Het
Eps8l3	T	C	3: 107,786,902 (GRCm39)	L26P	possibly damaging	Het
Fbxw26	A	G	9: 109,553,946 (GRCm39)	V231A	probably benign	Het
Fetub	G	A	16: 22,754,419 (GRCm39)	E209K	possibly damaging	Het
Galc	A	T	12: 98,212,556 (GRCm39)		probably null	Het
Gm6871	A	T	7: 41,222,892 (GRCm39)	N65K	probably benign	Het
Gstp3	A	G	19: 4,107,540 (GRCm39)	I208T	probably benign	Het
Gtpbp3	A	G	8: 71,945,272 (GRCm39)	Y448C	probably benign	Het
Hdac7	G	T	15: 97,705,857 (GRCm39)	Q385K	probably damaging	Het
Hemgn	C	T	4: 46,396,655 (GRCm39)	V194M	possibly damaging	Het
Idh2	G	C	7: 79,748,625 (GRCm39)	T113R	probably benign	Het
Jarid2	A	C	13: 45,056,219 (GRCm39)	K336T	possibly damaging	Het
Kcnj4	C	T	15: 79,369,216 (GRCm39)	V255M	probably damaging	Het
Ldhb	C	A	6: 142,439,934 (GRCm39)	W202L	probably damaging	Het
Lmbrd2	T	A	15: 9,177,838 (GRCm39)	Y512*	probably null	Het
Lrp1	A	G	10: 127,431,152 (GRCm39)		probably null	Het
Map3k12	G	A	15: 102,411,970 (GRCm39)	P365S	probably damaging	Het
Map3k5	G	A	10: 19,979,909 (GRCm39)	D806N	probably benign	Het
Matn3	A	G	12: 9,017,662 (GRCm39)	E438G	possibly damaging	Het
Mcmbp	G	A	7: 128,325,698 (GRCm39)	L97F	probably damaging	Het
Mmp3	A	T	9: 7,453,662 (GRCm39)	I428L	probably benign	Het
Mphosph8	T	C	14: 56,934,616 (GRCm39)	V855A	probably damaging	Het
Mycbp2	T	A	14: 103,393,150 (GRCm39)	H3027L	possibly damaging	Het
Nbea	C	T	3: 55,989,857 (GRCm39)	R333H	probably damaging	Het
Notch1	G	T	2: 26,350,446 (GRCm39)	H2231Q	probably benign	Het
Npas2	A	T	1: 39,364,456 (GRCm39)	H266L	probably damaging	Het
Oas3	A	G	5: 120,898,045 (GRCm39)	S833P	probably damaging	Het
Or1j15	T	C	2: 36,458,789 (GRCm39)	Y60H	probably damaging	Het
Or5ak24	T	C	2: 85,260,265 (GRCm39)	T303A	probably benign	Het
Or5w17	A	C	2: 87,584,334 (GRCm39)	M1R	probably null	Het
Or6c65	G	A	10: 129,603,725 (GRCm39)	R120H	probably benign	Het
Pak4	C	T	7: 28,264,690 (GRCm39)	V71I	possibly damaging	Het
Pitpnm1	T	C	19: 4,162,395 (GRCm39)	V1075A	probably damaging	Het
Pkp3	G	A	7: 140,668,415 (GRCm39)	V555M	probably damaging	Het
Plekhm2	T	C	4: 141,359,685 (GRCm39)	T381A	probably benign	Het
Plppr3	A	G	10: 79,702,244 (GRCm39)		probably null	Het
Ppp3ca	T	A	3: 136,627,672 (GRCm39)	V412D	probably benign	Het
Prss50	A	G	9: 110,687,081 (GRCm39)		probably benign	Het
Psph	A	C	5: 129,843,532 (GRCm39)	I174R	probably damaging	Het
Ptov1	A	G	7: 44,514,991 (GRCm39)	Y207H	possibly damaging	Het
Ptprs	A	G	17: 56,741,510 (GRCm39)	S585P	probably damaging	Het
Rnf146	A	T	10: 29,223,720 (GRCm39)	H55Q	probably damaging	Het
Rnf213	T	A	11: 119,332,009 (GRCm39)	M2407K	probably damaging	Het
Rnls	A	C	19: 33,179,931 (GRCm39)	L55R	possibly damaging	Het
Rptor	T	C	11: 119,647,146 (GRCm39)	C246R	probably damaging	Het
Rrp12	C	T	19: 41,866,222 (GRCm39)		probably null	Het
Samd3	A	G	10: 26,127,672 (GRCm39)	D223G	probably damaging	Het
Sdad1	G	A	5: 92,453,155 (GRCm39)	Q68*	probably null	Het
Selenov	G	A	7: 27,989,847 (GRCm39)	T219M	probably damaging	Het
Shd	A	G	17: 56,278,554 (GRCm39)	D39G	possibly damaging	Het
Slc26a10	A	T	10: 127,014,279 (GRCm39)	V245E	probably damaging	Het
Slit1	A	G	19: 41,614,012 (GRCm39)	L820P	probably damaging	Het
Snap23	T	C	2: 120,421,163 (GRCm39)	F96L	probably benign	Het
Speer1k	T	C	5: 10,998,994 (GRCm39)		probably benign	Het
Spef1l	A	T	7: 139,556,005 (GRCm39)	I212N	probably benign	Het
Stkld1	A	G	2: 26,840,115 (GRCm39)	H395R	probably damaging	Het
Syt13	G	A	2: 92,771,165 (GRCm39)	G84D	probably damaging	Het
Terb2	T	A	2: 122,016,990 (GRCm39)	L37Q	probably damaging	Het
Themis	A	G	10: 28,657,753 (GRCm39)	Y107C	probably damaging	Het
Top2a	T	A	11: 98,906,895 (GRCm39)	T249S	probably benign	Het
Tspo2	A	T	17: 48,756,148 (GRCm39)	F71Y	probably damaging	Het
Ttc21b	T	A	2: 66,053,921 (GRCm39)	K753*	probably null	Het
Ttk	A	G	9: 83,736,915 (GRCm39)	Y458C	possibly damaging	Het
Ttn	T	C	2: 76,586,017 (GRCm39)	R21905G	probably damaging	Het
Ugt3a1	T	A	15: 9,351,254 (GRCm39)	F88I	probably benign	Het
Vmn1r119	A	G	7: 20,746,121 (GRCm39)	L87P	probably damaging	Het
Vmn1r36	A	G	6: 66,693,747 (GRCm39)	F6L	probably benign	Het
Vmn2r15	T	A	5: 109,434,860 (GRCm39)	K615*	probably null	Het
Wdr18	G	A	10: 79,802,561 (GRCm39)		probably null	Het
Wdr6	A	T	9: 108,453,176 (GRCm39)	W236R	probably damaging	Het
Zbtb48	T	C	4: 152,110,955 (GRCm39)	T187A	probably benign	Het

Other mutations in Ppp2r5e

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02602:Ppp2r5e	APN	12	75,540,213 (GRCm39)	missense	probably damaging	1.00
IGL03398:Ppp2r5e	APN	12	75,509,179 (GRCm39)	missense	possibly damaging	0.73
IGL03402:Ppp2r5e	APN	12	75,511,667 (GRCm39)	missense	probably damaging	0.99
R0129:Ppp2r5e	UTSW	12	75,509,164 (GRCm39)	missense	probably damaging	1.00
R0466:Ppp2r5e	UTSW	12	75,509,216 (GRCm39)	splice site	probably benign
R0894:Ppp2r5e	UTSW	12	75,516,341 (GRCm39)	missense	probably damaging	1.00
R1452:Ppp2r5e	UTSW	12	75,516,310 (GRCm39)	splice site	probably benign
R1551:Ppp2r5e	UTSW	12	75,516,341 (GRCm39)	missense	probably damaging	1.00
R1614:Ppp2r5e	UTSW	12	75,516,341 (GRCm39)	missense	probably damaging	1.00
R1693:Ppp2r5e	UTSW	12	75,516,341 (GRCm39)	missense	probably damaging	1.00
R1864:Ppp2r5e	UTSW	12	75,516,341 (GRCm39)	missense	probably damaging	1.00
R1908:Ppp2r5e	UTSW	12	75,516,341 (GRCm39)	missense	probably damaging	1.00
R1909:Ppp2r5e	UTSW	12	75,516,341 (GRCm39)	missense	probably damaging	1.00
R1933:Ppp2r5e	UTSW	12	75,516,341 (GRCm39)	missense	probably damaging	1.00
R2181:Ppp2r5e	UTSW	12	75,509,098 (GRCm39)	missense	probably benign	0.08
R3084:Ppp2r5e	UTSW	12	75,515,390 (GRCm39)	missense	probably benign	0.23
R4212:Ppp2r5e	UTSW	12	75,516,325 (GRCm39)	missense	probably damaging	1.00
R4213:Ppp2r5e	UTSW	12	75,516,325 (GRCm39)	missense	probably damaging	1.00
R4680:Ppp2r5e	UTSW	12	75,516,533 (GRCm39)	missense	probably damaging	1.00
R4761:Ppp2r5e	UTSW	12	75,640,035 (GRCm39)	missense	possibly damaging	0.92
R5147:Ppp2r5e	UTSW	12	75,516,544 (GRCm39)	missense	probably damaging	0.96
R5262:Ppp2r5e	UTSW	12	75,640,045 (GRCm39)	missense	probably damaging	1.00
R5304:Ppp2r5e	UTSW	12	75,562,459 (GRCm39)	missense	possibly damaging	0.75
R5429:Ppp2r5e	UTSW	12	75,500,537 (GRCm39)	missense	probably damaging	0.99
R5439:Ppp2r5e	UTSW	12	75,540,250 (GRCm39)	missense	probably benign
R7225:Ppp2r5e	UTSW	12	75,515,353 (GRCm39)	missense	probably damaging	0.96
R7453:Ppp2r5e	UTSW	12	75,509,116 (GRCm39)	missense	probably damaging	0.99
R7558:Ppp2r5e	UTSW	12	75,511,766 (GRCm39)	missense	probably damaging	1.00
R8017:Ppp2r5e	UTSW	12	75,511,703 (GRCm39)	missense	probably damaging	1.00
R8019:Ppp2r5e	UTSW	12	75,511,703 (GRCm39)	missense	probably damaging	1.00
R8902:Ppp2r5e	UTSW	12	75,500,570 (GRCm39)	missense	probably benign	0.19
R8969:Ppp2r5e	UTSW	12	75,500,492 (GRCm39)	missense	possibly damaging	0.72
R9144:Ppp2r5e	UTSW	12	75,506,468 (GRCm39)	missense	possibly damaging	0.95
R9228:Ppp2r5e	UTSW	12	75,640,063 (GRCm39)	nonsense	probably null
R9524:Ppp2r5e	UTSW	12	75,509,167 (GRCm39)	missense	possibly damaging	0.66
R9572:Ppp2r5e	UTSW	12	75,562,468 (GRCm39)	missense	probably benign	0.06

Predicted Primers

PCR Primer
(F):5'- GTTTCATAAACAAACCTGAGAGGAG -3'
(R):5'- ACTCCTGTGCTGGGTGTAAC -3'

Sequencing Primer
(F):5'- TAAACAAACCTGAGAGGAGAAAGAG -3'
(R):5'- GCTGGGTGTAACTTTTATTTAGTAGC -3'

Posted On

2014-06-23