Mutagenetix > Incidental Mutation

Incidental Mutation 'R1551:Ppp2r5e'

169938

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

039590-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1551 (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: 98.8%
3x: 97.7%
10x: 94.0%
20x: 83.4%

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	A	G	7: 119,918,101 (GRCm39)	I1534M	probably benign	Het
Acad11	G	A	9: 104,003,785 (GRCm39)	A626T	probably damaging	Het
Akap9	T	A	5: 4,119,174 (GRCm39)	N3560K	probably benign	Het
Aldh3a2	C	T	11: 61,144,470 (GRCm39)	V363I	probably benign	Het
Anks1b	A	G	10: 89,912,843 (GRCm39)	T289A	probably benign	Het
Atp11a	A	G	8: 12,862,340 (GRCm39)	N64S	probably damaging	Het
Atp11c	T	C	X: 59,282,072 (GRCm39)		probably null	Het
Cd101	T	C	3: 100,919,329 (GRCm39)	H591R	probably damaging	Het
Cd36	C	T	5: 18,002,120 (GRCm39)	V294I	probably benign	Het
Cfap47	C	A	X: 78,532,251 (GRCm39)	L842F	probably damaging	Het
Cgref1	T	C	5: 31,090,929 (GRCm39)	E295G	probably benign	Het
Cit	A	G	5: 116,083,901 (GRCm39)	M787V	probably benign	Het
Clcn6	G	A	4: 148,097,235 (GRCm39)	P611S	possibly damaging	Het
Clec12a	A	C	6: 129,327,384 (GRCm39)	M1L	probably damaging	Het
Cmtm6	C	T	9: 114,575,573 (GRCm39)	R161W	probably damaging	Het
Colec10	G	T	15: 54,325,658 (GRCm39)	V163L	probably damaging	Het
Coq8b	A	G	7: 26,956,907 (GRCm39)	Y520C	probably damaging	Het
Ctsll3	C	A	13: 60,948,821 (GRCm39)	E45*	probably null	Het
Dsg3	A	G	18: 20,669,975 (GRCm39)	E663G	possibly damaging	Het
Dst	G	A	1: 34,231,293 (GRCm39)	R2962H	probably benign	Het
Etnk2	T	C	1: 133,300,995 (GRCm39)	I254T	probably damaging	Het
Fbxo36	T	C	1: 84,858,835 (GRCm39)	I40T	probably damaging	Het
Fgd2	G	A	17: 29,597,383 (GRCm39)	V568M	probably damaging	Het
Fmn1	T	C	2: 113,356,207 (GRCm39)	Y883H	possibly damaging	Het
Fpr-rs4	A	T	17: 18,242,589 (GRCm39)	T199S	possibly damaging	Het
Gm12789	A	G	4: 101,846,131 (GRCm39)	K131E	probably benign	Het
Gm17641	C	A	3: 68,777,448 (GRCm39)		silent	Het
Gm6665	G	T	18: 31,953,340 (GRCm39)	R43S	probably damaging	Het
Gzmc	T	A	14: 56,470,203 (GRCm39)	H98L	probably damaging	Het
Hecw1	T	A	13: 14,491,528 (GRCm39)	E75V	probably damaging	Het
Herc2	G	T	7: 55,796,417 (GRCm39)	V1930L	probably benign	Het
Hsh2d	G	A	8: 72,954,304 (GRCm39)	D229N	probably benign	Het
Htr6	A	T	4: 138,801,776 (GRCm39)	C99*	probably null	Het
Lgals2	C	T	15: 78,736,511 (GRCm39)	M16I	probably benign	Het
Lrrc8c	A	G	5: 105,756,090 (GRCm39)	N622D	probably damaging	Het
Myo15a	A	T	11: 60,383,791 (GRCm39)	I1613F	possibly damaging	Het
Oacyl	C	T	18: 65,875,280 (GRCm39)	R455C	probably benign	Het
Or13c25	A	T	4: 52,911,397 (GRCm39)	Y132*	probably null	Het
Or5ac21	T	A	16: 59,123,766 (GRCm39)	N84K	probably benign	Het
Or5bh3	T	C	X: 49,098,872 (GRCm39)	T81A	possibly damaging	Het
Orm3	A	G	4: 63,275,146 (GRCm39)		probably null	Het
Phf2	G	C	13: 48,985,579 (GRCm39)	T67S	unknown	Het
Phf2	A	G	13: 48,957,079 (GRCm39)	L1096P	probably damaging	Het
Pigt	T	C	2: 164,349,323 (GRCm39)	V542A	probably damaging	Het
Pnpla7	T	C	2: 24,937,720 (GRCm39)	F992L	probably benign	Het
Pramel11	A	G	4: 143,622,263 (GRCm39)	M364T	probably benign	Het
Prmt7	A	G	8: 106,964,014 (GRCm39)	T303A	probably benign	Het
Prpf4b	A	T	13: 35,078,426 (GRCm39)	I679F	possibly damaging	Het
Psd4	T	A	2: 24,293,292 (GRCm39)	M719K	probably benign	Het
Ranbp9	A	T	13: 43,578,593 (GRCm39)	M160K	probably benign	Het
Rfc1	A	G	5: 65,434,706 (GRCm39)	Y687H	probably damaging	Het
Rimbp2	T	C	5: 128,883,423 (GRCm39)	K119R	probably damaging	Het
Rnf113a1	T	C	X: 36,455,046 (GRCm39)	M1T	probably null	Het
Rnf40	A	C	7: 127,195,506 (GRCm39)	K511Q	possibly damaging	Het
Ryr2	T	A	13: 11,800,029 (GRCm39)		probably null	Het
Scrib	A	T	15: 75,937,011 (GRCm39)	V365E	probably damaging	Het
Slc6a17	A	G	3: 107,379,443 (GRCm39)	V575A	possibly damaging	Het
Spta1	A	G	1: 174,067,732 (GRCm39)	N2053S	possibly damaging	Het
Ssbp2	G	A	13: 91,790,511 (GRCm39)		probably null	Het
Stab1	G	T	14: 30,882,456 (GRCm39)	N460K	probably benign	Het
Tbc1d9	T	A	8: 83,992,787 (GRCm39)	C964S	probably benign	Het
Tmed11	A	G	5: 108,927,680 (GRCm39)		probably null	Het
Tmem191	C	A	16: 17,095,984 (GRCm39)	R285S	probably damaging	Het
Tpr	T	C	1: 150,312,552 (GRCm39)	S1917P	probably benign	Het
Vill	A	T	9: 118,892,440 (GRCm39)	H357L	probably benign	Het
Vmn1r229	A	G	17: 21,035,051 (GRCm39)	T99A	probably benign	Het
Vmn2r14	A	G	5: 109,369,283 (GRCm39)	S97P	probably damaging	Het
Wasf2	G	T	4: 132,917,483 (GRCm39)	R194L	unknown	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
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
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'- GCCCTTGAGAGTCACTTGGGAAAC -3'
(R):5'- TTGCCTAAAAGTGTCTCTAACCGCC -3'

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

Posted On

2014-04-13