Mutagenetix > Incidental Mutation

Incidental Mutation 'R0788:Ppp2ca'

76360

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

038968-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0788 (G1)

Quality Score

178

Status

Validated

Chromosome

Chromosomal Location

51989651-52013576 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 52003969 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 42 (E42G)

Ref Sequence

ENSEMBL: ENSMUSP00000020608 (fasta)

Gene Model

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

AlphaFold

P63330

Predicted Effect

possibly damaging
Transcript: ENSMUST00000020608
AA Change: E42G

PolyPhen 2 Score 0.917 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000020608
Gene: ENSMUSG00000020349
AA Change: E42G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181262

Meta Mutation Damage Score

0.3600

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 96.9%
20x: 93.0%

Validation Efficiency

98% (53/54)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833420G17Rik	T	A	13: 119,610,468 (GRCm39)	Y380*	probably null	Het
4931406B18Rik	C	A	7: 43,148,623 (GRCm39)	S196I	probably damaging	Het
Ablim2	T	C	5: 36,015,245 (GRCm39)	S519P	probably benign	Het
Adnp2	A	C	18: 80,173,219 (GRCm39)	C397G	probably benign	Het
Aldh1l2	A	G	10: 83,352,028 (GRCm39)	S156P	probably damaging	Het
Bcl2l15	G	T	3: 103,740,794 (GRCm39)		probably null	Het
Brd9	T	A	13: 74,092,986 (GRCm39)		probably benign	Het
Cars2	A	C	8: 11,579,672 (GRCm39)	I262R	possibly damaging	Het
Ccdc106	T	C	7: 5,060,533 (GRCm39)		probably benign	Het
Cdh3	G	A	8: 107,268,047 (GRCm39)	V361M	probably benign	Het
Cdhr1	A	C	14: 36,809,332 (GRCm39)		probably null	Het
Cdk5rap2	A	G	4: 70,225,468 (GRCm39)	I559T	possibly damaging	Het
Cdkn2aip	T	A	8: 48,166,798 (GRCm39)	Q3L	possibly damaging	Het
Chd1	G	T	17: 15,927,376 (GRCm39)	V10F	possibly damaging	Het
Col4a4	G	A	1: 82,502,717 (GRCm39)	P356S	unknown	Het
Col6a4	T	C	9: 105,949,197 (GRCm39)	K813E	probably benign	Het
Cttnbp2	G	A	6: 18,423,834 (GRCm39)	T830I	probably damaging	Het
Cyp2t4	A	G	7: 26,854,588 (GRCm39)	M23V	probably null	Het
Cyp3a16	T	C	5: 145,401,886 (GRCm39)	K59E	probably benign	Het
Dpysl5	G	A	5: 30,946,185 (GRCm39)		probably null	Het
E130308A19Rik	T	A	4: 59,719,847 (GRCm39)	Y460N	possibly damaging	Het
Ear6	T	A	14: 52,091,487 (GRCm39)	C11*	probably null	Het
Fat1	C	T	8: 45,477,020 (GRCm39)	T1999M	probably benign	Het
Gsdmd	T	A	15: 75,736,103 (GRCm39)	C77*	probably null	Het
Hsp90ab1	ACTTCTT	ACTT	17: 45,880,425 (GRCm39)		probably benign	Het
Kif28	A	T	1: 179,532,788 (GRCm39)		probably benign	Het
Krt6b	A	G	15: 101,585,954 (GRCm39)	I373T	probably damaging	Het
Lgr5	T	C	10: 115,288,902 (GRCm39)	T509A	probably damaging	Het
Mapkbp1	C	T	2: 119,854,482 (GRCm39)	P1354S	probably benign	Het
Nat10	A	G	2: 103,573,460 (GRCm39)	S346P	probably damaging	Het
Ncoa2	T	C	1: 13,237,113 (GRCm39)		probably benign	Het
Necap1	C	T	6: 122,858,495 (GRCm39)	R113W	probably damaging	Het
Or1l4	T	A	2: 37,092,035 (GRCm39)	Y261N	possibly damaging	Het
Orc4	A	T	2: 48,827,479 (GRCm39)	V38E	possibly damaging	Het
Per1	G	A	11: 68,992,185 (GRCm39)		probably benign	Het
Polb	T	C	8: 23,132,354 (GRCm39)	D130G	probably null	Het
Ppcs	T	C	4: 119,279,375 (GRCm39)	N59S	probably damaging	Het
Ptprf	T	C	4: 118,083,663 (GRCm39)	T807A	probably damaging	Het
Rapgef2	A	C	3: 79,006,502 (GRCm39)	F284V	possibly damaging	Het
Sestd1	A	T	2: 77,022,060 (GRCm39)	F544I	probably damaging	Het
Slfn3	G	A	11: 83,103,662 (GRCm39)	G178S	possibly damaging	Het
Supt6	G	A	11: 78,098,598 (GRCm39)		probably benign	Het
Tas2r109	T	A	6: 132,957,264 (GRCm39)	Q222L	probably benign	Het
Tekt4	A	C	17: 25,691,021 (GRCm39)	D109A	probably damaging	Het
Tob2	C	A	15: 81,735,903 (GRCm39)	R22L	probably damaging	Het
Ttn	T	G	2: 76,653,282 (GRCm39)	E178D	possibly damaging	Het
Ube2u	C	A	4: 100,371,937 (GRCm39)		probably benign	Het
Uggt2	A	G	14: 119,332,812 (GRCm39)		probably benign	Het
Vstm2a	T	C	11: 16,209,968 (GRCm39)	F65L	probably damaging	Het
Zfp57	A	G	17: 37,317,092 (GRCm39)		probably benign	Het
Znrf3	G	T	11: 5,231,320 (GRCm39)	P731Q	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
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
R5766:Ppp2ca	UTSW	11	52,004,014 (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'- TCTCTAGATGTCCACCACAGGTAGC -3'
(R):5'- GCTCTTACCCAGTTCAAAAGGCCC -3'

Sequencing Primer
(F):5'- tgccagcaaacctgagaac -3'
(R):5'- TACCTTAAGAGCTACAAGCAGTG -3'

Posted On

2013-10-16