Mutagenetix > Incidental Mutation

Incidental Mutation 'R1908:Ppp2r5e'

210086

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

039927-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1908 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

75497655-75643019 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 75516341 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Proline at position 239 (A239P)

Ref Sequence

ENSEMBL: ENSMUSP00000021447 (fasta)

Gene Model

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

AlphaFold

Q61151

Predicted Effect

probably damaging
Transcript: ENSMUST00000021447
AA Change: A239P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000021447
Gene: ENSMUSG00000021051
AA Change: A239P

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

probably damaging
Transcript: ENSMUST00000220035
AA Change: A205P

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

Meta Mutation Damage Score

0.6233

Coding Region Coverage

1x: 97.3%
3x: 96.8%
10x: 95.4%
20x: 93.0%

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	C	A	11: 109,847,924 (GRCm39)	L852F	possibly damaging	Het
Abcc6	T	C	7: 45,669,558 (GRCm39)		probably null	Het
Alg11	T	G	8: 22,555,584 (GRCm39)	C240G	probably damaging	Het
Aox1	A	G	1: 58,141,783 (GRCm39)	I1190V	probably damaging	Het
Apc2	T	G	10: 80,150,678 (GRCm39)	S1911A	probably benign	Het
Arfgef3	T	C	10: 18,528,511 (GRCm39)	D292G	possibly damaging	Het
Arhgef4	C	A	1: 34,763,340 (GRCm39)	S865R	probably benign	Het
Ass1	T	A	2: 31,383,160 (GRCm39)	Y190*	probably null	Het
B4galnt3	A	T	6: 120,187,051 (GRCm39)		probably null	Het
Btnl10	C	A	11: 58,811,367 (GRCm39)	P230Q	possibly damaging	Het
C3	A	G	17: 57,516,489 (GRCm39)	Y1348H	probably damaging	Het
Ccdc198	G	T	14: 49,464,032 (GRCm39)	D292E	probably damaging	Het
Cebpz	A	T	17: 79,242,336 (GRCm39)	Y439*	probably null	Het
Cic	C	A	7: 24,986,265 (GRCm39)	T1229K	probably damaging	Het
Clip4	T	C	17: 72,144,744 (GRCm39)	S524P	probably damaging	Het
Col6a3	A	C	1: 90,739,421 (GRCm39)	I269R	probably damaging	Het
Dbh	C	T	2: 27,071,506 (GRCm39)	T533I	possibly damaging	Het
Dcaf17	A	T	2: 70,890,713 (GRCm39)	R83*	probably null	Het
Dennd2b	G	A	7: 109,124,533 (GRCm39)	Q686*	probably null	Het
Dnah1	A	G	14: 30,984,515 (GRCm39)	L3923P	probably damaging	Het
Dnah7a	A	T	1: 53,670,721 (GRCm39)	D510E	probably benign	Het
Dock6	A	G	9: 21,752,925 (GRCm39)	F296S	probably damaging	Het
Eif4enif1	T	C	11: 3,177,455 (GRCm39)	S341P	probably damaging	Het
Epb41l1	G	T	2: 156,352,737 (GRCm39)	G461V	possibly damaging	Het
Epg5	T	A	18: 78,002,247 (GRCm39)	D555E	probably benign	Het
Fes	T	C	7: 80,036,609 (GRCm39)	R113G	probably damaging	Het
Garre1	T	A	7: 33,957,461 (GRCm39)	I59L	probably benign	Het
Gm10684	A	G	9: 45,021,511 (GRCm39)		probably benign	Het
Gm12185	T	C	11: 48,806,231 (GRCm39)	E320G	probably benign	Het
Gm14412	G	T	2: 177,007,269 (GRCm39)	H209N	probably damaging	Het
Gm14412	A	C	2: 177,007,630 (GRCm39)	S88R	probably benign	Het
Grhl1	T	A	12: 24,658,555 (GRCm39)	L400Q	probably damaging	Het
Havcr1	T	A	11: 46,664,511 (GRCm39)	Y216*	probably null	Het
Hephl1	A	C	9: 14,985,420 (GRCm39)	Y745*	probably null	Het
Hmcn2	T	G	2: 31,301,922 (GRCm39)		probably null	Het
Hs3st6	A	G	17: 24,977,110 (GRCm39)	K197E	possibly damaging	Het
Ifi214	C	T	1: 173,357,077 (GRCm39)	V9I	probably benign	Het
Jakmip2	T	C	18: 43,700,209 (GRCm39)	T450A	probably benign	Het
Lrp4	T	A	2: 91,328,753 (GRCm39)	V1551D	possibly damaging	Het
Macf1	A	T	4: 123,351,634 (GRCm39)	H1634Q	possibly damaging	Het
Mcpt8	T	A	14: 56,321,291 (GRCm39)	I58F	probably benign	Het
Mga	T	A	2: 119,757,075 (GRCm39)	H1018Q	possibly damaging	Het
Myo10	T	A	15: 25,801,308 (GRCm39)	V1499E	probably damaging	Het
Myom2	G	T	8: 15,131,023 (GRCm39)	D320Y	probably damaging	Het
Or11g7	T	A	14: 50,691,295 (GRCm39)	M262K	probably damaging	Het
Or13a27	T	C	7: 139,925,378 (GRCm39)	I175V	probably benign	Het
Or2r11	C	T	6: 42,437,360 (GRCm39)	V198M	probably benign	Het
Or2t26	A	C	11: 49,039,101 (GRCm39)	N6H	possibly damaging	Het
Or4c115	G	A	2: 88,927,888 (GRCm39)	P128S	probably damaging	Het
Or5d47	A	T	2: 87,804,403 (GRCm39)	V202D	possibly damaging	Het
Pabpc4	G	T	4: 123,182,861 (GRCm39)	R166L	possibly damaging	Het
Pcdhb8	A	G	18: 37,489,015 (GRCm39)	E231G	possibly damaging	Het
Pomgnt2	A	T	9: 121,811,257 (GRCm39)	I508N	possibly damaging	Het
Prdm15	G	T	16: 97,638,885 (GRCm39)	D58E	probably benign	Het
Rgl2	A	G	17: 34,151,122 (GRCm39)	T117A	probably benign	Het
Rp1	A	G	1: 4,418,943 (GRCm39)	I723T	probably damaging	Het
Serpina3g	A	G	12: 104,207,536 (GRCm39)	E233G	probably damaging	Het
Skint6	T	A	4: 112,749,187 (GRCm39)	S798C	probably benign	Het
Slc35f1	T	C	10: 52,898,000 (GRCm39)	L137P	possibly damaging	Het
Slc6a20a	T	C	9: 123,485,373 (GRCm39)	N246S	probably damaging	Het
Slc7a2	T	C	8: 41,369,534 (GRCm39)	L663S	probably benign	Het
Slco1a4	A	G	6: 141,761,173 (GRCm39)		probably null	Het
Slit2	A	G	5: 48,439,330 (GRCm39)	T41A	probably damaging	Het
Smc2	T	C	4: 52,450,863 (GRCm39)	I227T	probably damaging	Het
Smg1	A	G	7: 117,753,422 (GRCm39)		probably benign	Het
Ssu2	A	T	6: 112,361,388 (GRCm39)	L23M	probably benign	Het
Syne2	A	G	12: 76,141,053 (GRCm39)		probably null	Het
Tekt1	T	C	11: 72,242,761 (GRCm39)	T249A	probably benign	Het
Tfr2	T	C	5: 137,569,954 (GRCm39)	V120A	probably benign	Het
Thsd7b	C	T	1: 129,605,846 (GRCm39)	P529L	probably damaging	Het
Tll1	C	T	8: 64,478,141 (GRCm39)	D871N	probably damaging	Het
Tlr11	A	C	14: 50,598,664 (GRCm39)	I217L	probably benign	Het
Tmem87b	T	A	2: 128,673,479 (GRCm39)	V241D	probably damaging	Het
Tshz2	T	A	2: 169,727,465 (GRCm39)	I218N	possibly damaging	Het
Vmn1r18	A	T	6: 57,367,026 (GRCm39)	I176N	possibly damaging	Het
Vmn2r68	T	A	7: 84,883,260 (GRCm39)	H164L	probably benign	Het
Vmn2r74	T	C	7: 85,601,650 (GRCm39)	T663A	probably benign	Het
Vmn2r8	T	C	5: 108,945,436 (GRCm39)	T724A	probably benign	Het
Wdr11	T	C	7: 129,206,954 (GRCm39)	V289A	possibly damaging	Het
Zfp62	T	A	11: 49,107,047 (GRCm39)	D379E	probably damaging	Het
Zfp78	C	T	7: 6,381,897 (GRCm39)	P316S	probably damaging	Het
Zfyve27	T	G	19: 42,159,987 (GRCm39)	M1R	probably null	Het
Zkscan8	G	A	13: 21,709,325 (GRCm39)	P191L	probably damaging	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
R1844:Ppp2r5e	UTSW	12	75,516,540 (GRCm39)	missense	possibly damaging	0.81
R1864: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'- AGTCACTTGGGAAACAGGC -3'
(R):5'- TTATGGCAAGTTTCTCGGGC -3'

Sequencing Primer
(F):5'- TCACTTGGGAAACAGGCTAAGC -3'
(R):5'- CAAGTTTCTCGGGCTTAGAGC -3'

Posted On

2014-06-30