Mutagenetix > Incidental Mutation

Incidental Mutation 'R5766:Ppp2ca'

446288

Institutional Source

Beutler Lab

Gene Symbol

Ppp2ca

Ensembl Gene

ENSMUSG00000020349

Gene Name

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

Synonyms

PP2A

MMRRC Submission

044424-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5766 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

51989651-52013576 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 52004014 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 57 (D57G)

Ref Sequence

ENSEMBL: ENSMUSP00000020608 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020608]

AlphaFold

P63330

Predicted Effect

probably damaging
Transcript: ENSMUST00000020608
AA Change: D57G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000020608
Gene: ENSMUSG00000020349
AA Change: D57G

Domain	Start	End	E-Value	Type
PP2Ac	23	293	3.46e-155	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181262

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.5%

Validation Efficiency

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 an alpha isoform of the catalytic subunit. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null embryos die before gastrulation and exhibit widespread degeneration. Mesoderm is not formed. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl3	A	G	4: 144,182,439 (GRCm39)	V343A	probably damaging	Het
AI429214	TCCCTGATGAAC	TC	8: 37,461,383 (GRCm39)		probably null	Het
Arid2	A	G	15: 96,270,086 (GRCm39)	T1400A	probably benign	Het
Arrdc1	G	A	2: 24,816,417 (GRCm39)	T184I	probably damaging	Het
Aspm	T	C	1: 139,406,740 (GRCm39)	F1876L	probably damaging	Het
Calhm1	C	T	19: 47,132,142 (GRCm39)	V158I	probably benign	Het
Caly	T	C	7: 139,650,310 (GRCm39)	K211E	probably benign	Het
Cenpe	T	C	3: 134,954,174 (GRCm39)	L1677P	probably damaging	Het
Cttnbp2	A	G	6: 18,381,032 (GRCm39)	V1388A	possibly damaging	Het
Dgkd	C	T	1: 87,808,171 (GRCm39)	R80*	probably null	Het
Dnah3	A	T	7: 119,577,445 (GRCm39)	I2072N	probably damaging	Het
Dnah8	A	G	17: 30,909,235 (GRCm39)	I1020M	probably benign	Het
Drc3	T	C	11: 60,284,647 (GRCm39)	V484A	probably benign	Het
Efcab8	A	G	2: 153,622,912 (GRCm39)	D27G	possibly damaging	Het
Fat4	G	A	3: 38,943,617 (GRCm39)	G837R	probably damaging	Het
Fcgbpl1	G	A	7: 27,836,754 (GRCm39)	W224*	probably null	Het
Fgb	A	T	3: 82,953,483 (GRCm39)	C96S	probably damaging	Het
Flt4	G	C	11: 49,517,513 (GRCm39)	W278C	possibly damaging	Het
Fmnl2	T	C	2: 52,991,466 (GRCm39)	V327A	probably damaging	Het
Fras1	A	T	5: 96,879,548 (GRCm39)	Y2455F	possibly damaging	Het
Gm10549	C	A	18: 33,597,358 (GRCm39)		probably benign	Het
Gm13872	T	A	2: 102,568,254 (GRCm39)	I88N	probably damaging	Het
Hoxa6	A	G	6: 52,185,394 (GRCm39)	S71P	probably benign	Het
Hunk	T	A	16: 90,250,627 (GRCm39)	C148S	probably damaging	Het
Ighv1-18	A	C	12: 114,646,527 (GRCm39)	S26A	probably damaging	Het
Impg2	T	G	16: 56,080,183 (GRCm39)	D553E	possibly damaging	Het
Ints1	A	G	5: 139,757,900 (GRCm39)	I266T	probably benign	Het
Kpna3	G	T	14: 61,640,463 (GRCm39)	T33K	probably benign	Het
Lamb1	A	G	12: 31,349,930 (GRCm39)	D622G	probably damaging	Het
Lamp3	T	C	16: 19,520,067 (GRCm39)	T39A	probably damaging	Het
Mnt	C	T	11: 74,733,904 (GRCm39)		probably benign	Het
Msh4	A	G	3: 153,573,477 (GRCm39)	S726P	probably damaging	Het
Or13a25	T	A	7: 140,247,266 (GRCm39)	V22E	probably benign	Het
Pah	A	C	10: 87,403,209 (GRCm39)	K195Q	probably damaging	Het
Pdc	T	A	1: 150,209,251 (GRCm39)	*245K	probably null	Het
Pdzd8	A	T	19: 59,288,972 (GRCm39)	H809Q	possibly damaging	Het
Plekhd1	A	T	12: 80,769,140 (GRCm39)	I467L	probably benign	Het
Ralgapa1	A	T	12: 55,867,551 (GRCm39)	M1K	probably null	Het
Rfx2	T	A	17: 57,110,587 (GRCm39)	D133V	probably benign	Het
Scfd2	A	T	5: 74,623,312 (GRCm39)	L407Q	probably damaging	Het
Scp2d1	T	A	2: 144,665,957 (GRCm39)	S99T	possibly damaging	Het
Sec63	A	T	10: 42,677,677 (GRCm39)	N261I	probably damaging	Het
Slc8a1	T	C	17: 81,956,390 (GRCm39)	Y216C	probably damaging	Het
Son	T	A	16: 91,461,875 (GRCm39)		probably benign	Het
Syce1	T	C	7: 140,357,894 (GRCm39)	E285G	probably damaging	Het
Taar7a	G	T	10: 23,869,260 (GRCm39)	S40R	probably benign	Het
Ube3a	A	T	7: 58,925,807 (GRCm39)	D216V	possibly damaging	Het
Vgll2	A	G	10: 51,903,659 (GRCm39)	D174G	probably damaging	Het
Vmn2r17	A	T	5: 109,575,139 (GRCm39)	T149S	possibly damaging	Het
Zbtb39	G	T	10: 127,578,557 (GRCm39)	C377F	probably damaging	Het
Zfp820	T	A	17: 22,038,983 (GRCm39)	N115I	probably damaging	Het
Zfp948	T	C	17: 21,805,078 (GRCm39)	S23P	probably benign	Het

Other mutations in Ppp2ca

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00434:Ppp2ca	APN	11	52,012,776 (GRCm39)	missense	probably benign	0.02
IGL01767:Ppp2ca	APN	11	52,008,882 (GRCm39)	nonsense	probably null
IGL01982:Ppp2ca	APN	11	51,989,891 (GRCm39)	missense	probably benign
IGL03260:Ppp2ca	APN	11	52,003,975 (GRCm39)	missense	probably damaging	0.96
R0539:Ppp2ca	UTSW	11	52,008,989 (GRCm39)	critical splice donor site	probably null
R0788:Ppp2ca	UTSW	11	52,003,969 (GRCm39)	missense	possibly damaging	0.92
R0855:Ppp2ca	UTSW	11	52,012,752 (GRCm39)	missense	probably benign	0.01
R1539:Ppp2ca	UTSW	11	52,011,800 (GRCm39)	missense	probably damaging	0.99
R1591:Ppp2ca	UTSW	11	51,989,916 (GRCm39)	missense	possibly damaging	0.93
R1766:Ppp2ca	UTSW	11	52,012,773 (GRCm39)	missense	probably benign
R2267:Ppp2ca	UTSW	11	52,008,913 (GRCm39)	missense	probably damaging	1.00
R2268:Ppp2ca	UTSW	11	52,008,913 (GRCm39)	missense	probably damaging	1.00
R3933:Ppp2ca	UTSW	11	52,010,089 (GRCm39)	missense	probably damaging	1.00
R4199:Ppp2ca	UTSW	11	51,989,928 (GRCm39)	missense	probably benign
R4992:Ppp2ca	UTSW	11	52,004,033 (GRCm39)	missense	possibly damaging	0.52
R5261:Ppp2ca	UTSW	11	51,989,937 (GRCm39)	missense	probably benign
R5684:Ppp2ca	UTSW	11	52,004,154 (GRCm39)	missense	probably damaging	1.00
R5729:Ppp2ca	UTSW	11	52,008,856 (GRCm39)	missense	probably damaging	1.00
R7186:Ppp2ca	UTSW	11	52,010,080 (GRCm39)	missense	possibly damaging	0.95
R8073:Ppp2ca	UTSW	11	52,010,124 (GRCm39)	missense	possibly damaging	0.53
R9014:Ppp2ca	UTSW	11	52,009,510 (GRCm39)	missense	probably damaging	1.00
R9800:Ppp2ca	UTSW	11	52,008,910 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGTTGCAAATGCCTATGGTTTC -3'
(R):5'- CCGTGGAAGTCTGTTCTAAAATTC -3'

Sequencing Primer
(F):5'- TGCCTATGGTTTCATATTTTACAGG -3'
(R):5'- GATAGCTCTTACCCAGTTCAAAAGG -3'

Posted On

2016-11-21