Mutagenetix > Incidental Mutation

Incidental Mutation 'R5014:Ppp2r1a'

439471

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

042605-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5014 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

21165716-21186167 bp(+) (GRCm39)

Type of Mutation

splice site (5 bp from exon)

DNA Base Change (assembly)

G to A at 21179101 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000133334 (fasta)

Gene Model

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

AlphaFold

Q76MZ3

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 null
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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 98.3%
3x: 97.3%
10x: 95.4%
20x: 91.7%

Validation Efficiency

97% (83/86)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	T	C	6: 128,520,896 (GRCm39)	T1353A	probably benign	Het
Abca8b	A	T	11: 109,840,957 (GRCm39)	I1072N	probably damaging	Het
Atp1a2	T	C	1: 172,112,438 (GRCm39)	T517A	probably benign	Het
Blk	T	G	14: 63,617,236 (GRCm39)	N257T	probably benign	Het
Brd4	A	T	17: 32,417,372 (GRCm39)		probably benign	Het
Calr4	C	T	4: 109,092,994 (GRCm39)	Q25*	probably null	Het
Cbl	T	C	9: 44,065,696 (GRCm39)		probably null	Het
Ccdc30	T	G	4: 119,250,824 (GRCm39)	H6P	possibly damaging	Het
Cd101	A	C	3: 100,911,139 (GRCm39)	Y840D	probably damaging	Het
Cd68	T	A	11: 69,556,165 (GRCm39)	N178Y	probably damaging	Het
Cep350	T	C	1: 155,803,952 (GRCm39)	T1044A	probably benign	Het
Cfap46	A	G	7: 139,207,291 (GRCm39)	V1876A	probably benign	Het
Clec2g	T	A	6: 128,925,765 (GRCm39)	M58K	probably benign	Het
Clip1	T	C	5: 123,755,793 (GRCm39)	E860G	probably damaging	Het
Col18a1	C	T	10: 76,906,794 (GRCm39)		probably null	Het
Cul7	A	G	17: 46,966,868 (GRCm39)	*650W	probably null	Het
Dkk4	C	T	8: 23,115,315 (GRCm39)	A55V	probably benign	Het
Dnah8	G	A	17: 30,967,542 (GRCm39)	D2585N	probably benign	Het
Dnai7	T	C	6: 145,128,992 (GRCm39)	E407G	probably damaging	Het
Dnase1	C	A	16: 3,856,880 (GRCm39)	Y170*	probably null	Het
Dnmt1	A	C	9: 20,823,550 (GRCm39)	I1019S	probably benign	Het
Epha6	T	A	16: 59,486,942 (GRCm39)	H1035L	probably benign	Het
Fam124b	T	C	1: 80,177,776 (GRCm39)	T408A	probably benign	Het
Fam227b	G	A	2: 125,958,043 (GRCm39)	P241S	probably damaging	Het
Galnt7	T	C	8: 57,998,414 (GRCm39)	E305G	probably damaging	Het
Garin1b	C	T	6: 29,326,723 (GRCm39)		probably benign	Het
Git1	T	A	11: 77,389,821 (GRCm39)	V28E	probably damaging	Het
Gm10010	C	T	6: 128,177,556 (GRCm39)		noncoding transcript	Het
Gm4956	T	C	1: 21,363,821 (GRCm39)		noncoding transcript	Het
Gpr152	T	G	19: 4,193,506 (GRCm39)	V349G	probably benign	Het
Gtsf1l	C	T	2: 162,929,112 (GRCm39)	V124I	probably damaging	Het
Gucy1b1	C	G	3: 81,953,974 (GRCm39)	G114A	probably benign	Het
Hk2	T	C	6: 82,720,936 (GRCm39)	Q166R	possibly damaging	Het
Hook2	A	G	8: 85,718,006 (GRCm39)	I44M	probably damaging	Het
Ildr1	T	A	16: 36,541,921 (GRCm39)	M222K	probably damaging	Het
Ints6	A	T	14: 62,997,640 (GRCm39)	F55Y	probably benign	Het
Kcnh1	A	G	1: 191,959,388 (GRCm39)	N314S	probably damaging	Het
Lpin3	T	C	2: 160,746,748 (GRCm39)	F748L	probably damaging	Het
Lrsam1	T	C	2: 32,826,407 (GRCm39)		probably benign	Het
Msh2	A	T	17: 88,025,004 (GRCm39)	K627N	possibly damaging	Het
Myrip	A	G	9: 120,251,534 (GRCm39)	Q219R	probably damaging	Het
Ndufb3	T	A	1: 58,630,401 (GRCm39)	W51R	probably damaging	Het
Nfasc	A	T	1: 132,512,185 (GRCm39)		probably benign	Het
Or2c1	T	A	16: 3,656,912 (GRCm39)	I25N	probably benign	Het
Or2h2	T	A	17: 37,396,446 (GRCm39)	I204F	probably benign	Het
Or8s8	T	C	15: 98,354,857 (GRCm39)	V222A	possibly damaging	Het
P3h3	T	A	6: 124,832,199 (GRCm39)	E229V	probably damaging	Het
Ppfia2	T	A	10: 106,701,224 (GRCm39)	L837*	probably null	Het
Rabgap1	T	A	2: 37,377,152 (GRCm39)	V328E	probably damaging	Het
Ralgapb	G	A	2: 158,337,455 (GRCm39)	R1138Q	probably damaging	Het
Ranbp2	A	T	10: 58,299,942 (GRCm39)	Q498L	probably benign	Het
Rbx1	T	A	15: 81,355,161 (GRCm39)	C56S	probably damaging	Het
Rcan2	T	C	17: 44,328,704 (GRCm39)	F45S	probably damaging	Het
Rgs20	T	C	1: 4,980,770 (GRCm39)	Y185C	probably damaging	Het
Rorc	T	G	3: 94,298,460 (GRCm39)	L315R	probably damaging	Het
Skic2	A	G	17: 35,066,401 (GRCm39)	V194A	probably benign	Het
Slc13a2	T	C	11: 78,290,987 (GRCm39)	K406E	possibly damaging	Het
Slc35g3	T	A	11: 69,651,866 (GRCm39)	K62*	probably null	Het
Sox30	T	C	11: 45,882,736 (GRCm39)	S589P	probably benign	Het
Sp110	A	C	1: 85,505,050 (GRCm39)	F434C	probably benign	Het
Ssh2	T	A	11: 77,346,102 (GRCm39)	C1362*	probably null	Het
Tecta	C	T	9: 42,284,538 (GRCm39)	C849Y	probably damaging	Het
Thbs1	T	A	2: 117,950,518 (GRCm39)		probably null	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Tut4	T	C	4: 108,384,043 (GRCm39)		probably benign	Het
Tyk2	C	T	9: 21,027,126 (GRCm39)		probably null	Het
Tyw5	C	A	1: 57,446,004 (GRCm39)		probably benign	Het
Vcp	T	C	4: 42,980,828 (GRCm39)	T761A	probably benign	Het
Wdfy4	A	T	14: 32,822,897 (GRCm39)	C1401S	probably benign	Het
Wiz	T	C	17: 32,578,340 (GRCm39)	N391D	probably damaging	Het
Ylpm1	G	A	12: 85,061,523 (GRCm39)	E475K	unknown	Het
Zfp108	G	T	7: 23,960,163 (GRCm39)	K251N	probably benign	Het
Zfp184	A	G	13: 22,142,594 (GRCm39)	D100G	probably benign	Het
Zfp990	T	A	4: 145,264,669 (GRCm39)	C556S	possibly damaging	Het
Zkscan16	C	T	4: 58,951,892 (GRCm39)	P189L	probably 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
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
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'- TAGCCCTGAGTGATTGCCAG -3'
(R):5'- AAAGGCCTTGGATCTGATTGTATC -3'

Sequencing Primer
(F):5'- AGTGATTGCCAGACTCTTCAG -3'
(R):5'- ACTCTATTACCTTGATGCAGGGCAAG -3'

Posted On

2016-10-31