Mutagenetix > Incidental Mutation

Incidental Mutation 'R9712:Ppp2r1a'

730288

Institutional Source

Beutler Lab

Gene Symbol

Ppp2r1a

Ensembl Gene

ENSMUSG00000007564

Gene Name

protein phosphatase 2, regulatory subunit A, alpha

Synonyms

PR65, PP2A, 6330556D22Rik, protein phosphatase PP2A

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9712 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

20945311-20965916 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 20958796 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Alanine at position 295 (E295A)

Ref Sequence

ENSEMBL: ENSMUSP00000007708 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000007708] [ENSMUST00000147983] [ENSMUST00000173658]

AlphaFold

Q76MZ3

PDB Structure

Crystal structure of a protein phosphatase 2A (PP2A) holoenzyme. [X-RAY DIFFRACTION]
Crystal structure of the full-length simian virus 40 small t antigen complexed with the protein phosphatase 2A Aalpha subunit [X-RAY DIFFRACTION]
Structural Basis of PP2A and Sgo interaction [X-RAY DIFFRACTION]

Predicted Effect

probably damaging
Transcript: ENSMUST00000007708
AA Change: E295A

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000007708
Gene: ENSMUSG00000007564
AA Change: E295A

Domain	Start	End	E-Value	Type
Pfam:HEAT	166	196	4.3e-6	PFAM
Pfam:HEAT_2	170	266	1.7e-8	PFAM
Pfam:HEAT	283	313	3.4e-5	PFAM
Pfam:HEAT_2	366	467	5.3e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000147983

SMART Domains

Protein: ENSMUSP00000133334
Gene: ENSMUSG00000007564

Domain	Start	End	E-Value	Type
Pfam:HEAT	13	43	2.1e-5	PFAM
Pfam:HEAT	52	82	2.9e-5	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000173658

SMART Domains

Protein: ENSMUSP00000133778
Gene: ENSMUSG00000007564

Domain	Start	End	E-Value	Type
PDB:2PF4\|D	1	72	3e-40	PDB
SCOP:d1b3ua_	2	86	3e-12	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a constant regulatory subunit of protein phosphatase 2. Protein phosphatase 2 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 constant regulatory subunit A serves as a scaffolding molecule to coordinate the assembly of the catalytic subunit and a variable regulatory B subunit. This gene encodes an alpha isoform of the constant regulatory subunit A. Alternatively spliced transcript variants have been described. [provided by RefSeq, Apr 2010]
PHENOTYPE: Mice homozygous for a targeted allele that remove exons 5 and 6 exhibit embryonic lethality. Mice heterozygous for this allele exhibit increased benzopyrene-induced lung tumors. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810055G02Rik	A	T	19: 3,715,784	M20L	probably benign	Het
9430007A20Rik	C	T	4: 144,528,784	A258V	probably benign	Het
Abca8b	T	A	11: 109,942,337	D1241V	probably benign	Het
Adam20	G	A	8: 40,795,453	R200H	probably benign	Het
Adcy10	T	C	1: 165,513,112	F229L	probably damaging	Het
Adsl	A	T	15: 80,955,639	N126I	probably benign	Het
Ahnak	AGATCTC	A	19: 9,007,028		probably benign	Het
Ahnak	GATCTCTAT	GAT	19: 9,007,029		probably benign	Het
Aktip	G	A	8: 91,129,727	P41S	probably damaging	Het
Alkbh3	C	A	2: 93,980,973	R258L	probably damaging	Het
Arfgap3	A	G	15: 83,313,533	Y341H	probably benign	Het
Arhgef26	C	T	3: 62,423,613	L583F	probably damaging	Het
Arhgef40	T	C	14: 51,988,958	I153T	probably damaging	Het
Atp1a1	T	C	3: 101,591,441	S179G	probably benign	Het
Bok	T	C	1: 93,686,507	S21P	probably damaging	Het
C130060K24Rik	A	G	6: 65,456,140	I315V	probably benign	Het
Ccdc136	A	G	6: 29,417,442	E754G	probably benign	Het
Cers3	A	G	7: 66,773,630	K108E	probably benign	Het
Cmya5	T	C	13: 93,065,373		probably null	Het
Col19a1	T	C	1: 24,328,067	E478G	possibly damaging	Het
Colec10	T	A	15: 54,459,784	S134R	possibly damaging	Het
Ctnnb1	A	T	9: 120,955,829	I514F	probably damaging	Het
Cux1	C	T	5: 136,309,819	E664K	probably benign	Het
Dars	T	C	1: 128,405,462	Q75R	probably benign	Het
Disp1	T	A	1: 183,135,815	S16C	probably damaging	Het
Dnah7a	A	T	1: 53,559,140	V1412E	probably benign	Het
Ect2l	C	T	10: 18,168,434	V226I	probably benign	Het
Ep400	T	A	5: 110,756,643	H30L	unknown	Het
Ephx4	A	G	5: 107,419,781	I202V	probably benign	Het
Exoc3	A	T	13: 74,192,908	F259Y	probably damaging	Het
Ezr	T	C	17: 6,752,995	E229G	probably damaging	Het
Fat1	A	T	8: 45,017,380	I1472L	probably benign	Het
Fsd1l	T	G	4: 53,679,972	D223E	probably benign	Het
Gata6	A	T	18: 11,059,064	D377V	possibly damaging	Het
Gm12185	A	T	11: 48,907,389	M759K	probably benign	Het
Gm21994	C	T	2: 150,254,576	R311Q	probably benign	Het
Gm9922	C	T	14: 101,729,457	A120T	unknown	Het
Hectd4	A	T	5: 121,310,681	Y364F	probably benign	Het
Hnrnph1	A	G	11: 50,385,869	S465G	unknown	Het
Ifi204	T	C	1: 173,749,358	Y559C	probably damaging	Het
Ift88	T	C	14: 57,481,396	S613P	probably damaging	Het
Kif21a	G	C	15: 90,985,325	A441G	probably damaging	Het
Kif21a	G	T	15: 90,995,512	T191K	probably benign	Het
Lrit1	T	A	14: 37,060,127	C252*	probably null	Het
Ncbp1	T	A	4: 46,144,837	D29E	probably benign	Het
Nlrp10	A	T	7: 108,925,528	D248E	probably damaging	Het
Nphp4	T	G	4: 152,547,064	V807G	probably benign	Het
Nsd1	T	C	13: 55,246,043	S589P	possibly damaging	Het
Oas1b	T	A	5: 120,814,485	N80K	probably damaging	Het
Olfr1055	G	A	2: 86,347,239	H176Y	probably benign	Het
Olfr1135	A	T	2: 87,671,761	I202N	probably benign	Het
Oprk1	T	A	1: 5,598,873	C181S	probably damaging	Het
Oprl1	T	A	2: 181,718,419	N89K	probably damaging	Het
Pdcd11	A	G	19: 47,129,302	K1697E	probably damaging	Het
Pdp1	G	A	4: 11,961,607	H254Y	probably benign	Het
Pds5b	A	T	5: 150,805,663	D1419V	possibly damaging	Het
Per1	G	T	11: 69,100,649	G3V	probably benign	Het
Pex16	C	A	2: 92,376,643	N55K	probably damaging	Het
Phldb2	C	A	16: 45,774,977	L862F	probably benign	Het
Pld5	T	A	1: 175,964,006	D478V	probably benign	Het
Pms2	T	C	5: 143,914,796	I177T	probably damaging	Het
Pou1f1	A	T	16: 65,529,872	E119D	probably benign	Het
Rad51ap2	A	T	12: 11,457,592	N505I	possibly damaging	Het
Rasal3	A	C	17: 32,396,562	V434G	probably damaging	Het
Rasgrf2	C	T	13: 91,987,973	V6M		Het
Rwdd1	A	T	10: 34,001,156	D197E		Het
Scn11a	A	T	9: 119,790,010	C755*	probably null	Het
Skil	T	C	3: 31,116,860	S443P	probably benign	Het
Slc12a6	T	C	2: 112,356,472	C939R	probably damaging	Het
Slc25a36	A	G	9: 97,079,177	S269P	probably benign	Het
Srrm4	T	A	5: 116,482,393	H92L	unknown	Het
Styk1	CTCTTCATGATTTTCTT	CTCTT	6: 131,301,649		probably benign	Het
Tbc1d4	A	T	14: 101,507,410	V260E	probably benign	Het
Tbc1d8	T	C	1: 39,385,232	N593D	probably damaging	Het
Trex1	C	A	9: 109,058,737	R62L	probably damaging	Het
Trpm3	A	T	19: 22,715,352	D269V	possibly damaging	Het
Trpv4	G	T	5: 114,633,150	Y439*	probably null	Het
Ttn	G	A	2: 76,734,248	T28515I	probably damaging	Het
Ucn2	G	A	9: 108,986,503	G111D	probably damaging	Het
Uhrf2	A	G	19: 30,056,481	I212V	possibly damaging	Het
Usp24	T	A	4: 106,347,367	M261K	probably benign	Het
Vmn1r235	A	T	17: 21,261,698	D95V	probably benign	Het
Vwf	G	A	6: 125,624,573	R826Q		Het
Zfp28	T	C	7: 6,393,879	C438R	probably damaging	Het

Other mutations in Ppp2r1a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00959:Ppp2r1a	APN	17	20961578	unclassified	probably benign
IGL01815:Ppp2r1a	APN	17	20956832	missense	probably benign	0.00
IGL01923:Ppp2r1a	APN	17	20965469	makesense	probably null
IGL02411:Ppp2r1a	APN	17	20951334	splice site	probably benign
IGL02694:Ppp2r1a	APN	17	20951440	splice site	probably benign
IGL02742:Ppp2r1a	APN	17	20959003	missense	probably benign	0.01
Altricial	UTSW	17	20954717	critical splice donor site	probably null
Dolmas	UTSW	17	20960631	nonsense	probably null
R0032:Ppp2r1a	UTSW	17	20945584	critical splice donor site	probably benign
R0403:Ppp2r1a	UTSW	17	20957041	missense	probably damaging	0.96
R1170:Ppp2r1a	UTSW	17	20951331	splice site	probably benign
R1652:Ppp2r1a	UTSW	17	20955974	missense	probably benign	0.03
R1857:Ppp2r1a	UTSW	17	20961689	missense	possibly damaging	0.93
R2215:Ppp2r1a	UTSW	17	20961743	splice site	probably null
R3800:Ppp2r1a	UTSW	17	20962710	missense	possibly damaging	0.82
R4013:Ppp2r1a	UTSW	17	20951347	missense	probably damaging	1.00
R4483:Ppp2r1a	UTSW	17	20955810	missense	probably benign	0.05
R5014:Ppp2r1a	UTSW	17	20958839	splice site	probably null
R5421:Ppp2r1a	UTSW	17	20956706	missense	probably benign
R5615:Ppp2r1a	UTSW	17	20958987	missense	probably benign	0.00
R5945:Ppp2r1a	UTSW	17	20959413	missense	possibly damaging	0.81
R5986:Ppp2r1a	UTSW	17	20951346	missense	probably damaging	1.00
R6466:Ppp2r1a	UTSW	17	20960631	nonsense	probably null
R6727:Ppp2r1a	UTSW	17	20955825	missense	probably benign	0.07
R6738:Ppp2r1a	UTSW	17	20954717	critical splice donor site	probably null
R6934:Ppp2r1a	UTSW	17	20961633	missense	possibly damaging	0.56
R7549:Ppp2r1a	UTSW	17	20962682	missense	possibly damaging	0.95
R7904:Ppp2r1a	UTSW	17	20961741	critical splice donor site	probably null
R7922:Ppp2r1a	UTSW	17	20954617	missense	probably benign
R7998:Ppp2r1a	UTSW	17	20961639	missense	possibly damaging	0.93
R8150:Ppp2r1a	UTSW	17	20959438	missense	possibly damaging	0.75
R8204:Ppp2r1a	UTSW	17	20956773	missense	probably benign	0.20
R9347:Ppp2r1a	UTSW	17	20961615	missense	probably benign	0.18
R9352:Ppp2r1a	UTSW	17	20965237	critical splice acceptor site	probably null
R9528:Ppp2r1a	UTSW	17	20955891	missense	probably benign	0.21
R9772:Ppp2r1a	UTSW	17	20961593	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- ACTATGTCCCTTGTGCTGCG -3'
(R):5'- CAGGGCAAGATCTGAGTCATG -3'

Sequencing Primer
(F):5'- GCGTCCTAACCTTATTCTGGTG -3'
(R):5'- GAGTCATGATCACATTCTCCCGG -3'

Posted On

2022-10-06