Mutagenetix > Incidental Mutation

Incidental Mutation 'R1477:Ppp2r5b'

164161

Institutional Source

Beutler Lab

Gene Symbol

Ppp2r5b

Ensembl Gene

ENSMUSG00000024777

Gene Name

protein phosphatase 2, regulatory subunit B', beta

Synonyms

B'beta

MMRRC Submission

039530-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.382) question?

Stock #

R1477 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

6277795-6285902 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 6280257 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 349 (S349P)

Ref Sequence

ENSEMBL: ENSMUSP00000025695 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025695] [ENSMUST00000025698] [ENSMUST00000113526]

AlphaFold

Q6PD28

Predicted Effect

probably benign
Transcript: ENSMUST00000025695
AA Change: S349P

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000025695
Gene: ENSMUSG00000024777
AA Change: S349P

Domain	Start	End	E-Value	Type
low complexity region	6	25	N/A	INTRINSIC
low complexity region	32	48	N/A	INTRINSIC
Pfam:B56	62	467	5.2e-187	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000025698

SMART Domains

Protein: ENSMUSP00000025698
Gene: ENSMUSG00000024784

Domain	Start	End	E-Value	Type
low complexity region	8	15	N/A	INTRINSIC
Pfam:DAN	17	126	5.1e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000113526

SMART Domains

Protein: ENSMUSP00000109154
Gene: ENSMUSG00000024784

Domain	Start	End	E-Value	Type
low complexity region	8	15	N/A	INTRINSIC
Pfam:DAN	16	123	1.9e-7	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148693

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153155

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.4%
20x: 93.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of 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 a beta isoform of the regulatory subunit B56 subfamily. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl5	A	C	19: 55,279,904 (GRCm39)	D481A	probably benign	Het
Adam2	A	C	14: 66,315,149 (GRCm39)	L8R	possibly damaging	Het
Ajm1	G	C	2: 25,469,765 (GRCm39)	H49D	possibly damaging	Het
Arfgef1	A	T	1: 10,259,509 (GRCm39)	C619S	probably damaging	Het
Atm	A	G	9: 53,375,573 (GRCm39)	I2082T	probably benign	Het
Cgrrf1	A	G	14: 47,090,895 (GRCm39)	I210M	probably benign	Het
Clec2e	A	T	6: 129,072,163 (GRCm39)	V72E	probably benign	Het
Cmtr1	T	C	17: 29,916,131 (GRCm39)	V587A	possibly damaging	Het
Col1a2	T	C	6: 4,539,673 (GRCm39)	F1314L	unknown	Het
Ctbp2	T	C	7: 132,600,670 (GRCm39)	E618G	probably damaging	Het
Dnaaf6rt	G	A	1: 31,262,104 (GRCm39)	V29M	probably benign	Het
Dock8	A	T	19: 25,072,914 (GRCm39)	Y398F	possibly damaging	Het
Ezh1	A	T	11: 101,083,810 (GRCm39)	D733E	probably damaging	Het
Fbxl6	A	G	15: 76,421,934 (GRCm39)	S202P	probably benign	Het
Fcgbpl1	C	A	7: 27,856,518 (GRCm39)	Q2102K	probably benign	Het
Grid2ip	G	A	5: 143,361,340 (GRCm39)	A191T	probably damaging	Het
Helz2	T	C	2: 180,874,597 (GRCm39)	S1966G	probably benign	Het
Ipmk	A	G	10: 71,217,607 (GRCm39)	K385E	probably damaging	Het
Itga11	G	A	9: 62,662,493 (GRCm39)	V489I	probably benign	Het
Klhl6	T	C	16: 19,784,727 (GRCm39)	K137R	probably benign	Het
Meis1	G	A	11: 18,831,665 (GRCm39)	Q458*	probably null	Het
Mst1r	T	C	9: 107,785,523 (GRCm39)	S394P	probably benign	Het
Mus81	G	T	19: 5,536,362 (GRCm39)	H155Q	probably benign	Het
Neb	G	A	2: 52,154,134 (GRCm39)	L2326F	probably damaging	Het
Nf1	C	T	11: 79,286,685 (GRCm39)	Q162*	probably null	Het
Nin	T	C	12: 70,090,958 (GRCm39)	E819G	possibly damaging	Het
Nox4	T	C	7: 86,945,074 (GRCm39)	V79A	probably benign	Het
Or11g2	A	T	14: 50,856,170 (GRCm39)	I164F	probably damaging	Het
Or13a28	T	A	7: 140,218,355 (GRCm39)	I247N	possibly damaging	Het
Or5ae2	T	A	7: 84,506,225 (GRCm39)	I216N	probably damaging	Het
Or6d12	A	T	6: 116,493,626 (GRCm39)	Y296F	probably damaging	Het
Peg3	T	A	7: 6,719,141 (GRCm39)	D69V	probably damaging	Het
Pnp2	A	G	14: 51,196,992 (GRCm39)	E26G	probably benign	Het
Pnpt1	T	A	11: 29,087,102 (GRCm39)	C154S	probably benign	Het
Ppp1r26	C	T	2: 28,342,800 (GRCm39)	T810I	probably benign	Het
Prdm4	C	T	10: 85,740,129 (GRCm39)	V424I	probably benign	Het
Rraga	A	G	4: 86,494,996 (GRCm39)	I281V	probably benign	Het
Sall1	T	C	8: 89,759,510 (GRCm39)	E198G	probably damaging	Het
Serpina9	T	C	12: 103,963,362 (GRCm39)	D382G	possibly damaging	Het
Stt3b	A	G	9: 115,095,260 (GRCm39)	V257A	probably damaging	Het
Taf2	A	T	15: 54,925,568 (GRCm39)	Y225N	possibly damaging	Het
Tlr3	A	G	8: 45,851,202 (GRCm39)	L41P	probably damaging	Het
Trappc12	A	T	12: 28,787,751 (GRCm39)	V444E	probably benign	Het
Trim34a	T	A	7: 103,897,287 (GRCm39)	V117D	possibly damaging	Het
Ttbk1	A	C	17: 46,787,725 (GRCm39)	M259R	probably benign	Het
Ttll12	A	G	15: 83,464,303 (GRCm39)	V509A	probably damaging	Het
Ush2a	G	A	1: 188,581,273 (GRCm39)	V3718M	probably benign	Het
Vps35	T	A	8: 86,014,429 (GRCm39)	E73D	probably damaging	Het
Zfp790	C	T	7: 29,522,525 (GRCm39)		probably benign	Het

Other mutations in Ppp2r5b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00598:Ppp2r5b	APN	19	6,280,998 (GRCm39)	missense	probably damaging	1.00
IGL02714:Ppp2r5b	APN	19	6,284,737 (GRCm39)	missense	probably damaging	0.99
IGL02937:Ppp2r5b	APN	19	6,281,016 (GRCm39)	missense	probably damaging	1.00
PIT4696001:Ppp2r5b	UTSW	19	6,284,713 (GRCm39)	missense	probably benign	0.12
R0114:Ppp2r5b	UTSW	19	6,278,461 (GRCm39)	missense	probably benign
R0333:Ppp2r5b	UTSW	19	6,279,077 (GRCm39)	unclassified	probably benign
R0627:Ppp2r5b	UTSW	19	6,282,664 (GRCm39)	unclassified	probably benign
R1628:Ppp2r5b	UTSW	19	6,280,935 (GRCm39)	critical splice donor site	probably null
R4066:Ppp2r5b	UTSW	19	6,279,360 (GRCm39)	missense	probably damaging	1.00
R4834:Ppp2r5b	UTSW	19	6,280,540 (GRCm39)	missense	possibly damaging	0.81
R5854:Ppp2r5b	UTSW	19	6,280,974 (GRCm39)	missense	probably damaging	1.00
R5895:Ppp2r5b	UTSW	19	6,284,764 (GRCm39)	missense	probably damaging	1.00
R6102:Ppp2r5b	UTSW	19	6,284,768 (GRCm39)	missense	probably benign	0.00
R6285:Ppp2r5b	UTSW	19	6,280,566 (GRCm39)	missense	probably benign	0.08
R7087:Ppp2r5b	UTSW	19	6,282,580 (GRCm39)	missense	possibly damaging	0.46
R7391:Ppp2r5b	UTSW	19	6,278,544 (GRCm39)	missense	probably benign	0.00
R7576:Ppp2r5b	UTSW	19	6,278,514 (GRCm39)	missense	possibly damaging	0.76
R7799:Ppp2r5b	UTSW	19	6,282,628 (GRCm39)	missense	probably benign	0.43

Predicted Primers

PCR Primer
(F):5'- TAAGTGAGTCCCAAGGCTCCAAGG -3'
(R):5'- AACCTGCACCCAGAAGGAGGTATG -3'

Sequencing Primer
(F):5'- ggctccaaggctcgaac -3'
(R):5'- CCAGAAGGAGGTATGAAGGGC -3'

Posted On

2014-03-28