Mutagenetix > Incidental Mutation

Incidental Mutation 'R1652:Ppp2r1a'

188820

Institutional Source

Beutler Lab

Gene Symbol

Ppp2r1a

Ensembl Gene

ENSMUSG00000007564

Gene Name

protein phosphatase 2, regulatory subunit A, alpha

Synonyms

protein phosphatase PP2A, PR65, PP2A, 6330556D22Rik

MMRRC Submission

039688-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1652 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

21165716-21186167 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 21176236 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 153 (V153I)

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 benign
Transcript: ENSMUST00000007708
AA Change: V153I

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000007708
Gene: ENSMUSG00000007564
AA Change: V153I

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

noncoding transcript
Transcript: ENSMUST00000136975

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138971

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139293

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

noncoding transcript
Transcript: ENSMUST00000173359

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: 99.1%
3x: 98.3%
10x: 96.2%
20x: 92.6%

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam2	T	A	14: 66,314,700 (GRCm39)	E37V	probably benign	Het
Adamts7	A	G	9: 90,071,697 (GRCm39)	D664G	probably damaging	Het
Adamtsl5	A	G	10: 80,178,011 (GRCm39)	V256A	probably benign	Het
Adrb1	C	T	19: 56,711,705 (GRCm39)	S301L	possibly damaging	Het
Akap9	A	G	5: 4,127,210 (GRCm39)	Y3686C	probably damaging	Het
Ap3b2	A	G	7: 81,123,147 (GRCm39)	S456P	probably damaging	Het
Atp1a4	T	C	1: 172,082,470 (GRCm39)	Y124C	probably damaging	Het
Bdkrb1	A	T	12: 105,570,502 (GRCm39)	T23S	probably damaging	Het
Cacna1g	A	G	11: 94,318,230 (GRCm39)	Y1468H	probably damaging	Het
Cep170b	A	G	12: 112,699,947 (GRCm39)	D152G	probably damaging	Het
Cers4	T	A	8: 4,566,908 (GRCm39)		probably null	Het
Cplane1	G	T	15: 8,230,630 (GRCm39)	R969L	probably damaging	Het
Cyp2t4	A	T	7: 26,856,815 (GRCm39)	D285V	possibly damaging	Het
Ddx56	A	T	11: 6,217,679 (GRCm39)	L14Q	probably damaging	Het
Dennd2d	C	A	3: 106,394,317 (GRCm39)	R63S	probably benign	Het
Dnah7b	T	A	1: 46,214,550 (GRCm39)	L1105*	probably null	Het
Eef1e1	A	T	13: 38,840,081 (GRCm39)	L75I	possibly damaging	Het
Eif1ad11	T	A	12: 87,993,853 (GRCm39)	V27E	probably benign	Het
Fam76b	A	G	9: 13,747,188 (GRCm39)	S191G	probably benign	Het
Fat1	T	A	8: 45,478,215 (GRCm39)	Y2420*	probably null	Het
Fbxw18	T	A	9: 109,519,695 (GRCm39)	L270F	probably benign	Het
Fech	T	A	18: 64,591,269 (GRCm39)	H385L	probably benign	Het
Fkbp4	A	T	6: 128,413,637 (GRCm39)	I2N	probably damaging	Het
Gda	A	T	19: 21,378,042 (GRCm39)	M339K	probably damaging	Het
Gdpgp1	T	A	7: 79,889,112 (GRCm39)	M381K	probably benign	Het
Glyctk	C	A	9: 106,034,356 (GRCm39)	V173L	probably damaging	Het
Gtf2ird1	G	A	5: 134,424,567 (GRCm39)	P393L	probably damaging	Het
Kat2a	T	C	11: 100,599,437 (GRCm39)	N517D	probably damaging	Het
Krt84	G	A	15: 101,434,398 (GRCm39)	S523F	possibly damaging	Het
Lama1	G	A	17: 68,114,841 (GRCm39)	R2330Q	probably damaging	Het
Lamc1	C	T	1: 153,125,392 (GRCm39)	G597E	probably damaging	Het
Lekr1	A	T	3: 65,591,508 (GRCm39)	S82C	probably benign	Het
Lgi3	T	C	14: 70,768,656 (GRCm39)	F51S	probably damaging	Het
Lrba	T	C	3: 86,447,245 (GRCm39)	S2030P	probably damaging	Het
Map4k5	A	G	12: 69,877,201 (GRCm39)		probably null	Het
Mcoln2	C	A	3: 145,869,390 (GRCm39)	R32S	possibly damaging	Het
Metap1	A	T	3: 138,168,151 (GRCm39)	F324L	probably damaging	Het
Moxd2	C	T	6: 40,864,337 (GRCm39)	R31H	probably damaging	Het
Ncf4	T	A	15: 78,145,234 (GRCm39)	M274K	possibly damaging	Het
Nup205	T	G	6: 35,215,901 (GRCm39)	V1747G	probably benign	Het
Or10d3	G	A	9: 39,461,591 (GRCm39)	T192I	probably benign	Het
Or52r1c	A	G	7: 102,735,013 (GRCm39)	D91G	probably benign	Het
Or5ae1	T	C	7: 84,565,728 (GRCm39)	V247A	probably damaging	Het
Pbx3	C	T	2: 34,114,568 (GRCm39)	G122D	probably damaging	Het
Plcb3	A	G	19: 6,932,664 (GRCm39)	F1034L	probably benign	Het
Prss33	C	G	17: 24,054,115 (GRCm39)	M30I	probably benign	Het
Prss33	A	T	17: 24,054,116 (GRCm39)	M30K	probably benign	Het
R3hdm2	G	A	10: 127,330,960 (GRCm39)	S793N	probably benign	Het
Rab11fip5	C	T	6: 85,325,279 (GRCm39)	V343M	probably damaging	Het
Rere	A	G	4: 150,696,522 (GRCm39)		probably benign	Het
Rims1	G	T	1: 22,363,090 (GRCm39)	P52Q	probably damaging	Het
Scpep1	G	T	11: 88,843,260 (GRCm39)	S66*	probably null	Het
Setd2	A	G	9: 110,378,932 (GRCm39)	S632G	probably benign	Het
Shc3	A	T	13: 51,626,875 (GRCm39)	H129Q	probably damaging	Het
Slc22a20	A	T	19: 6,022,970 (GRCm39)	M391K	probably damaging	Het
Smurf1	A	T	5: 144,817,474 (GRCm39)	I712K	probably damaging	Het
Snx25	T	A	8: 46,502,510 (GRCm39)	I629L	probably damaging	Het
Supt16	A	C	14: 52,414,637 (GRCm39)	V425G	probably benign	Het
Tnik	G	A	3: 28,658,442 (GRCm39)	V576I	probably benign	Het
Trcg1	A	C	9: 57,152,856 (GRCm39)	D551A	probably damaging	Het
Ubald2	A	G	11: 116,325,178 (GRCm39)	N15S	probably damaging	Het
Usf1	T	C	1: 171,245,317 (GRCm39)	I243T	probably damaging	Het
Vmn2r19	A	T	6: 123,292,656 (GRCm39)	I233F	possibly damaging	Het
Vmn2r63	T	C	7: 42,577,635 (GRCm39)	N301S	probably benign	Het
Wdr27	A	G	17: 15,137,532 (GRCm39)	F419L	probably benign	Het

Other mutations in Ppp2r1a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00959:Ppp2r1a	APN	17	21,181,840 (GRCm39)	unclassified	probably benign
IGL01815:Ppp2r1a	APN	17	21,177,094 (GRCm39)	missense	probably benign	0.00
IGL01923:Ppp2r1a	APN	17	21,185,731 (GRCm39)	makesense	probably null
IGL02411:Ppp2r1a	APN	17	21,171,596 (GRCm39)	splice site	probably benign
IGL02694:Ppp2r1a	APN	17	21,171,702 (GRCm39)	splice site	probably benign
IGL02742:Ppp2r1a	APN	17	21,179,265 (GRCm39)	missense	probably benign	0.01
Altricial	UTSW	17	21,174,979 (GRCm39)	critical splice donor site	probably null
Dolmas	UTSW	17	21,180,893 (GRCm39)	nonsense	probably null
R0032:Ppp2r1a	UTSW	17	21,165,846 (GRCm39)	critical splice donor site	probably benign
R0403:Ppp2r1a	UTSW	17	21,177,303 (GRCm39)	missense	probably damaging	0.96
R1170:Ppp2r1a	UTSW	17	21,171,593 (GRCm39)	splice site	probably benign
R1857:Ppp2r1a	UTSW	17	21,181,951 (GRCm39)	missense	possibly damaging	0.93
R2215:Ppp2r1a	UTSW	17	21,182,005 (GRCm39)	splice site	probably null
R3800:Ppp2r1a	UTSW	17	21,182,972 (GRCm39)	missense	possibly damaging	0.82
R4013:Ppp2r1a	UTSW	17	21,171,609 (GRCm39)	missense	probably damaging	1.00
R4483:Ppp2r1a	UTSW	17	21,176,072 (GRCm39)	missense	probably benign	0.05
R5014:Ppp2r1a	UTSW	17	21,179,101 (GRCm39)	splice site	probably null
R5421:Ppp2r1a	UTSW	17	21,176,968 (GRCm39)	missense	probably benign
R5615:Ppp2r1a	UTSW	17	21,179,249 (GRCm39)	missense	probably benign	0.00
R5945:Ppp2r1a	UTSW	17	21,179,675 (GRCm39)	missense	possibly damaging	0.81
R5986:Ppp2r1a	UTSW	17	21,171,608 (GRCm39)	missense	probably damaging	1.00
R6466:Ppp2r1a	UTSW	17	21,180,893 (GRCm39)	nonsense	probably null
R6727:Ppp2r1a	UTSW	17	21,176,087 (GRCm39)	missense	probably benign	0.07
R6738:Ppp2r1a	UTSW	17	21,174,979 (GRCm39)	critical splice donor site	probably null
R6934:Ppp2r1a	UTSW	17	21,181,895 (GRCm39)	missense	possibly damaging	0.56
R7549:Ppp2r1a	UTSW	17	21,182,944 (GRCm39)	missense	possibly damaging	0.95
R7904:Ppp2r1a	UTSW	17	21,182,003 (GRCm39)	critical splice donor site	probably null
R7922:Ppp2r1a	UTSW	17	21,174,879 (GRCm39)	missense	probably benign
R7998:Ppp2r1a	UTSW	17	21,181,901 (GRCm39)	missense	possibly damaging	0.93
R8150:Ppp2r1a	UTSW	17	21,179,700 (GRCm39)	missense	possibly damaging	0.75
R8204:Ppp2r1a	UTSW	17	21,177,035 (GRCm39)	missense	probably benign	0.20
R9347:Ppp2r1a	UTSW	17	21,181,877 (GRCm39)	missense	probably benign	0.18
R9352:Ppp2r1a	UTSW	17	21,185,499 (GRCm39)	critical splice acceptor site	probably null
R9528:Ppp2r1a	UTSW	17	21,176,153 (GRCm39)	missense	probably benign	0.21
R9712:Ppp2r1a	UTSW	17	21,179,058 (GRCm39)	missense	probably damaging	0.99
R9772:Ppp2r1a	UTSW	17	21,181,855 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- AGAGCTACACACATGGACCTCCTG -3'
(R):5'- ACTGTGAAGGACAAGCCTCTTTGG -3'

Sequencing Primer
(F):5'- CATGGACCTCCTGAGAGATTC -3'
(R):5'- CTTTGGAGAACTGAGGAGGG -3'

Posted On

2014-05-09