Mutagenetix > Incidental Mutation

Incidental Mutation 'R2215:Ppp2r1a'

241121

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

040217-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2215 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

21165716-21186167 bp(+) (GRCm39)

Type of Mutation

splice site (4 bp from exon)

DNA Base Change (assembly)

A to G at 21182005 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

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 null
Transcript: ENSMUST00000007708

SMART Domains

Protein: ENSMUSP00000007708
Gene: ENSMUSG00000007564

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231928

Meta Mutation Damage Score

0.9755

Coding Region Coverage

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

Validation Efficiency

100% (68/68)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	T	A	11: 84,254,619 (GRCm39)	S1899T	probably damaging	Het
Accs	G	T	2: 93,672,243 (GRCm39)	N208K	probably benign	Het
Actn4	C	A	7: 28,618,178 (GRCm39)	V22L	possibly damaging	Het
Adam21	A	G	12: 81,607,064 (GRCm39)	S233P	probably damaging	Het
Adrm1b	G	A	3: 92,335,730 (GRCm39)	A324V	probably damaging	Het
Agmat	C	T	4: 141,476,899 (GRCm39)	R102C	probably benign	Het
Akap8l	T	C	17: 32,540,569 (GRCm39)	E608G	possibly damaging	Het
Arap2	T	C	5: 62,834,519 (GRCm39)	I788V	probably damaging	Het
Arhgef12	G	T	9: 42,917,167 (GRCm39)	H391N	probably damaging	Het
Arhgef28	G	T	13: 98,187,529 (GRCm39)	H255Q	possibly damaging	Het
Baz1a	G	A	12: 55,022,154 (GRCm39)	R43*	probably null	Het
Bcas3	T	C	11: 85,692,769 (GRCm39)	S862P	probably damaging	Het
Blm	A	T	7: 80,149,595 (GRCm39)	H671Q	possibly damaging	Het
Bmp8a	C	T	4: 123,218,911 (GRCm39)	V166I	probably benign	Het
Cep120	G	T	18: 53,860,707 (GRCm39)	P241Q	probably damaging	Het
Col14a1	G	A	15: 55,244,238 (GRCm39)	G437E	unknown	Het
Cyp2a5	T	C	7: 26,539,900 (GRCm39)	L3S	probably damaging	Het
D16Ertd472e	T	C	16: 78,342,155 (GRCm39)	T242A	probably benign	Het
Dach1	A	G	14: 98,405,917 (GRCm39)		probably null	Het
Ddx20	A	T	3: 105,587,656 (GRCm39)		probably benign	Het
Eif4enif1	A	G	11: 3,177,476 (GRCm39)	S185G	probably damaging	Het
Ep400	A	T	5: 110,841,421 (GRCm39)		probably benign	Het
Fam117b	T	A	1: 60,008,219 (GRCm39)	I351K	probably damaging	Het
Fbxo31	T	C	8: 122,293,050 (GRCm39)	I112V	probably benign	Het
Galntl5	A	T	5: 25,403,476 (GRCm39)	N149I	probably damaging	Het
Gja8	A	T	3: 96,827,218 (GRCm39)	F148Y	probably damaging	Het
Gpatch1	A	T	7: 34,993,252 (GRCm39)	L531Q	possibly damaging	Het
Gprin1	G	A	13: 54,888,046 (GRCm39)	T76M	probably damaging	Het
Htr4	T	A	18: 62,546,787 (GRCm39)	C113*	probably null	Het
Igf1r	T	A	7: 67,814,982 (GRCm39)	D294E	probably benign	Het
Kdm6b	G	A	11: 69,295,870 (GRCm39)	P799L	unknown	Het
Lat	A	T	7: 125,967,137 (GRCm39)	V139E	probably damaging	Het
Lrrc34	G	A	3: 30,697,678 (GRCm39)	R51C	probably benign	Het
Map3k1	A	G	13: 111,892,322 (GRCm39)	S978P	probably benign	Het
Masp1	T	A	16: 23,271,271 (GRCm39)	D659V	possibly damaging	Het
Mcam	A	T	9: 44,051,250 (GRCm39)	R415*	probably null	Het
Mtmr10	A	G	7: 63,987,403 (GRCm39)	T648A	probably benign	Het
Myh2	T	C	11: 67,082,563 (GRCm39)	W1378R	probably benign	Het
Nipsnap2	A	G	5: 129,816,649 (GRCm39)	E64G	probably damaging	Het
Or4a68	T	C	2: 89,270,381 (GRCm39)	M81V	probably benign	Het
Or52n4b	T	C	7: 108,144,095 (GRCm39)	L119P	probably damaging	Het
Or6c3	A	T	10: 129,309,289 (GRCm39)	I243F	probably damaging	Het
Or9s27	G	A	1: 92,516,708 (GRCm39)	V219I	probably benign	Het
Pcdhb8	T	G	18: 37,490,127 (GRCm39)	S602A	probably damaging	Het
Peg10	A	T	6: 4,756,918 (GRCm39)		probably benign	Het
Pld1	A	T	3: 28,132,542 (GRCm39)	I577F	probably benign	Het
Plekhm1	A	T	11: 103,267,811 (GRCm39)	I720N	probably damaging	Het
Retreg3	G	T	11: 101,010,459 (GRCm39)	Y49*	probably null	Het
Rrp36	T	C	17: 46,983,746 (GRCm39)	E22G	possibly damaging	Het
Sec14l2	C	A	11: 4,059,169 (GRCm39)	A167S	probably damaging	Het
Sema5b	A	G	16: 35,480,585 (GRCm39)	T751A	probably damaging	Het
Smarcc1	C	A	9: 110,066,907 (GRCm39)		probably benign	Het
Smox	T	C	2: 131,362,190 (GRCm39)		probably null	Het
Spats2l	A	T	1: 57,985,575 (GRCm39)	T543S	possibly damaging	Het
Sppl2a	G	T	2: 126,769,754 (GRCm39)	T34K	probably benign	Het
Svep1	T	C	4: 58,138,602 (GRCm39)		probably benign	Het
Tet2	T	A	3: 133,192,362 (GRCm39)	I691F	probably benign	Het
Tnxb	T	C	17: 34,923,114 (GRCm39)	Y2566H	possibly damaging	Het
Ttn	T	C	2: 76,570,853 (GRCm39)	E26680G	probably damaging	Het
Txlna	T	C	4: 129,533,111 (GRCm39)	E139G	possibly damaging	Het
Ubap2	T	C	4: 41,196,483 (GRCm39)		probably null	Het
Ubr3	A	T	2: 69,809,661 (GRCm39)		probably null	Het
Usp37	A	C	1: 74,483,685 (GRCm39)	F844V	probably damaging	Het
Usp6nl	A	G	2: 6,429,150 (GRCm39)	D204G	probably damaging	Het
Vmn1r230	T	C	17: 21,067,684 (GRCm39)	I291T	probably benign	Het
Zfp229	T	G	17: 21,965,258 (GRCm39)	V496G	possibly damaging	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
R1652:Ppp2r1a	UTSW	17	21,176,236 (GRCm39)	missense	probably benign	0.03
R1857:Ppp2r1a	UTSW	17	21,181,951 (GRCm39)	missense	possibly damaging	0.93
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'- TGTAGCTGTTAATGCCCTCC -3'
(R):5'- ATCTTGGCCCTGTAGAGACC -3'

Sequencing Primer
(F):5'- GTTAATGCCCTCCTGCTCAG -3'
(R):5'- TGTAGAGACCCGATCAAATACTG -3'

Posted On

2014-10-15