Mutagenetix > Incidental Mutation

Incidental Mutation 'R4418:Ppp2cb'

326936

Institutional Source

Beutler Lab

Gene Symbol

Ppp2cb

Ensembl Gene

ENSMUSG00000009630

Gene Name

protein phosphatase 2 (formerly 2A), catalytic subunit, beta isoform

Synonyms

PP2Ac, D8Ertd766e

MMRRC Submission

041139-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4418 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

34089653-34109469 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 34107077 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 254 (R254Q)

Ref Sequence

ENSEMBL: ENSMUSP00000009774 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000009774] [ENSMUST00000095349]

AlphaFold

P62715

Predicted Effect

probably benign
Transcript: ENSMUST00000009774
AA Change: R254Q

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000009774
Gene: ENSMUSG00000009630
AA Change: R254Q

Domain	Start	End	E-Value	Type
PP2Ac	23	293	2.48e-156	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000095349

SMART Domains

Protein: ENSMUSP00000092992
Gene: ENSMUSG00000052906

Domain	Start	End	E-Value	Type
transmembrane domain	5	22	N/A	INTRINSIC
transmembrane domain	34	56	N/A	INTRINSIC
low complexity region	70	81	N/A	INTRINSIC
Pfam:UBX	192	271	3.8e-16	PFAM

Meta Mutation Damage Score

0.0595

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

95% (72/76)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the phosphatase 2A catalytic subunit. 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. This gene encodes a beta isoform of the catalytic subunit. [provided by RefSeq, Mar 2010]
PHENOTYPE: Mice homozygous for a knock-out allele are viable and fertile. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930523C07Rik	A	G	1: 159,872,372 (GRCm39)		noncoding transcript	Het
Acot12	A	G	13: 91,932,524 (GRCm39)	T507A	possibly damaging	Het
Agap2	T	G	10: 126,927,519 (GRCm39)	C1113W	probably damaging	Het
Ap3s1-ps2	A	T	8: 95,131,921 (GRCm39)		noncoding transcript	Het
B3gnt3	T	C	8: 72,146,413 (GRCm39)	R39G	probably benign	Het
Bahd1	G	A	2: 118,753,004 (GRCm39)	R757H	probably damaging	Het
Cdcp3	A	T	7: 130,849,194 (GRCm39)	D899V	possibly damaging	Het
Chad	C	T	11: 94,458,663 (GRCm39)	H271Y	possibly damaging	Het
Chil4	G	A	3: 106,111,043 (GRCm39)	P284S	possibly damaging	Het
Col6a1	T	A	10: 76,554,239 (GRCm39)	K323*	probably null	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Dclre1c	T	C	2: 3,453,972 (GRCm39)	F285S	possibly damaging	Het
Dctn2	T	G	10: 127,114,234 (GRCm39)	M360R	probably benign	Het
Dele1	T	C	18: 38,394,340 (GRCm39)		probably null	Het
Dgka	A	T	10: 128,563,963 (GRCm39)	L462Q	probably damaging	Het
Drg2	A	C	11: 60,358,972 (GRCm39)	K364T	probably damaging	Het
Dync1li1	T	A	9: 114,535,238 (GRCm39)	S167R	probably damaging	Het
Entrep1	T	C	19: 23,956,799 (GRCm39)	T365A	probably benign	Het
Fer	A	T	17: 64,336,286 (GRCm39)	D554V	possibly damaging	Het
Fignl2	A	G	15: 100,951,830 (GRCm39)	S151P	possibly damaging	Het
Gbgt1	A	G	2: 28,388,420 (GRCm39)	Y35C	probably damaging	Het
Gm6526	T	A	14: 43,986,302 (GRCm39)	I79K	probably damaging	Het
Gpr6	T	G	10: 40,946,604 (GRCm39)	N326T	probably damaging	Het
H2bc4	C	T	13: 23,868,486 (GRCm39)	T91M	probably damaging	Het
Hcn4	C	T	9: 58,751,178 (GRCm39)	T268M	probably benign	Het
Hnf4g	A	G	3: 3,713,154 (GRCm39)	M243V	possibly damaging	Het
Homer1	A	G	13: 93,538,577 (GRCm39)	E314G	probably damaging	Het
Hs6st1	T	C	1: 36,143,108 (GRCm39)	Y348H	probably damaging	Het
Ifitm6	A	T	7: 140,595,984 (GRCm39)	I103N	probably damaging	Het
Ipo5	T	G	14: 121,181,305 (GRCm39)	C944G	possibly damaging	Het
Kcnb1	C	A	2: 166,947,595 (GRCm39)	E418*	probably null	Het
Kcnk2	G	A	1: 188,988,924 (GRCm39)	R207C	probably damaging	Het
Kctd8	T	C	5: 69,498,505 (GRCm39)	E47G	probably damaging	Het
Klhdc2	C	T	12: 69,354,371 (GRCm39)		probably benign	Het
Lrrc37	T	C	11: 103,509,140 (GRCm39)		probably benign	Het
Mgat1	A	G	11: 49,152,072 (GRCm39)	Y185C	probably damaging	Het
Mmp25	T	A	17: 23,863,044 (GRCm39)	R122S	probably damaging	Het
Mrpl39	C	A	16: 84,522,012 (GRCm39)		probably null	Het
Naip6	C	T	13: 100,437,108 (GRCm39)	A472T	probably benign	Het
Nek1	T	C	8: 61,559,898 (GRCm39)	F1007S	probably damaging	Het
Neto1	T	C	18: 86,422,981 (GRCm39)	M146T	probably benign	Het
Opn1sw	G	A	6: 29,379,423 (GRCm39)	R45*	probably null	Het
Osbpl5	A	T	7: 143,263,552 (GRCm39)	C98*	probably null	Het
Pacc1	T	A	1: 191,080,629 (GRCm39)	V283E	probably damaging	Het
Pcdhb7	C	T	18: 37,476,535 (GRCm39)	A557V	probably benign	Het
Pecam1	A	G	11: 106,586,748 (GRCm39)	F155L	possibly damaging	Het
Plxna2	C	T	1: 194,431,625 (GRCm39)	S538F	probably damaging	Het
Pmfbp1	C	A	8: 110,257,265 (GRCm39)	Q609K	probably benign	Het
Pnpo	A	T	11: 96,831,795 (GRCm39)		probably null	Het
Qser1	A	T	2: 104,619,766 (GRCm39)	S349T	probably damaging	Het
Rnf167	T	A	11: 70,538,743 (GRCm39)	W17R	probably damaging	Het
Rpl21-ps4	A	G	14: 11,227,879 (GRCm38)		noncoding transcript	Het
Rxfp2	A	T	5: 149,972,265 (GRCm39)	H158L	probably benign	Het
Ryr3	C	T	2: 112,661,569 (GRCm39)	C1807Y	probably damaging	Het
Scaper	T	A	9: 55,745,464 (GRCm39)	E601D	probably damaging	Het
Secisbp2l	A	T	2: 125,594,835 (GRCm39)	C542S	probably benign	Het
Slc6a19	A	G	13: 73,832,514 (GRCm39)	V393A	possibly damaging	Het
Stil	A	G	4: 114,866,574 (GRCm39)	N176S	probably benign	Het
Tap1	T	A	17: 34,407,353 (GRCm39)		probably null	Het
Tcl1b3	A	T	12: 105,159,844 (GRCm39)	Q105L	probably damaging	Het
Trappc10	G	T	10: 78,053,022 (GRCm39)	A251D	probably damaging	Het
Trim43a	G	T	9: 88,464,206 (GRCm39)	C39F	probably damaging	Het
Ttn	A	T	2: 76,719,825 (GRCm39)		probably benign	Het
Vmn2r110	A	T	17: 20,803,951 (GRCm39)	L208*	probably null	Het
Vmn2r88	G	T	14: 51,655,538 (GRCm39)	L583F	probably damaging	Het
Wasf1	C	T	10: 40,812,578 (GRCm39)	H456Y	unknown	Het
Zfp120	A	G	2: 149,960,105 (GRCm39)	I73T	possibly damaging	Het
Zfp990	T	C	4: 145,263,298 (GRCm39)	C99R	possibly damaging	Het

Other mutations in Ppp2cb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01566:Ppp2cb	APN	8	34,101,791 (GRCm39)	missense	probably benign	0.38
IGL02985:Ppp2cb	APN	8	34,105,474 (GRCm39)	unclassified	probably benign
IGL03251:Ppp2cb	APN	8	34,100,679 (GRCm39)	splice site	probably benign
Breakthrough	UTSW	8	34,105,502 (GRCm39)	missense	probably damaging	1.00
R0940:Ppp2cb	UTSW	8	34,105,689 (GRCm39)	splice site	probably null
R1688:Ppp2cb	UTSW	8	34,105,480 (GRCm39)	missense	probably benign	0.02
R2187:Ppp2cb	UTSW	8	34,100,705 (GRCm39)	missense	possibly damaging	0.95
R2350:Ppp2cb	UTSW	8	34,101,855 (GRCm39)	missense	probably null	1.00
R4566:Ppp2cb	UTSW	8	34,100,723 (GRCm39)	missense	possibly damaging	0.67
R6187:Ppp2cb	UTSW	8	34,105,502 (GRCm39)	missense	probably damaging	1.00
R6990:Ppp2cb	UTSW	8	34,109,161 (GRCm39)	missense	probably benign	0.01
R7477:Ppp2cb	UTSW	8	34,105,502 (GRCm39)	missense	probably benign	0.01
R9018:Ppp2cb	UTSW	8	34,105,787 (GRCm39)	missense	probably benign	0.17
R9301:Ppp2cb	UTSW	8	34,090,038 (GRCm39)	missense	possibly damaging	0.68

Predicted Primers

PCR Primer
(F):5'- GCCTAATACGAGTTTCAAGCAAAC -3'
(R):5'- GTGCAGGTATCTATGGAAGTCATAC -3'

Sequencing Primer
(F):5'- GAAGCCAGGCTCATTTCTATCATG -3'
(R):5'- ACTAGACTGTAGTTAAGTGCTCTGAG -3'

Posted On

2015-07-07