Mutagenetix > Incidental Mutation

Incidental Mutation 'R5945:Ppp2r1a'

460590

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

044137-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5945 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

20945311-20965916 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 20959413 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Aspartic acid at position 112 (H112D)

Ref Sequence

ENSEMBL: ENSMUSP00000133334 (fasta)

Gene Model

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

AlphaFold

Q76MZ3

Predicted Effect

probably benign
Transcript: ENSMUST00000007708
AA Change: H340D

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000007708
Gene: ENSMUSG00000007564
AA Change: H340D

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

possibly damaging
Transcript: ENSMUST00000147983
AA Change: H112D

PolyPhen 2 Score 0.811 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000133334
Gene: ENSMUSG00000007564
AA Change: H112D

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

0.2178

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.6%

Validation Efficiency

100% (101/101)

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930488N24Rik	T	C	17: 14,106,339		noncoding transcript	Het
Abca13	C	T	11: 9,293,398	H1754Y	probably benign	Het
Abi1	T	C	2: 23,039,965	E34G	probably damaging	Het
Apobec3	C	T	15: 79,897,846	T19I	probably damaging	Het
Arel1	C	A	12: 84,926,347	V559L	probably benign	Het
Arhgef10	T	C	8: 14,980,028		probably null	Het
Asb6	T	C	2: 30,828,203		probably benign	Het
Asxl2	T	C	12: 3,500,439	V727A	possibly damaging	Het
Atp13a5	C	A	16: 29,237,243	R1100L	probably benign	Het
Atp6v1a	A	G	16: 44,099,946	V429A	probably damaging	Het
Caml	A	G	13: 55,628,632	Y228C	probably damaging	Het
Ccdc14	A	G	16: 34,723,588	E772G	probably damaging	Het
Ccdc96	A	G	5: 36,485,850	E400G	probably damaging	Het
Ces1h	T	A	8: 93,363,626	E266V	probably benign	Het
Chd5	G	T	4: 152,379,951	Q1522H	probably benign	Het
CN725425	T	A	15: 91,245,777	I281N	possibly damaging	Het
Cngb3	A	T	4: 19,283,579	E62V	probably null	Het
Cops5	T	A	1: 10,038,010		probably benign	Het
Crhr2	T	A	6: 55,100,682	I232F	possibly damaging	Het
Cxcl3	C	T	5: 90,786,316		probably benign	Het
Ddx31	T	A	2: 28,859,890	I308N	probably damaging	Het
Efcab14	T	A	4: 115,756,467	V204D	probably damaging	Het
Emsy	T	C	7: 98,619,383	T484A	probably damaging	Het
Ep400	A	T	5: 110,682,866	I2257N	unknown	Het
Epb41l4a	T	A	18: 33,828,730	Q420L	possibly damaging	Het
Fat4	A	G	3: 38,983,206	D3669G	probably benign	Het
Fmnl2	C	A	2: 53,114,199	T607K	probably damaging	Het
Glod4	T	C	11: 76,234,471	Y135C	probably damaging	Het
Gm10912	A	G	2: 104,066,616	I33M	possibly damaging	Het
Gm5592	T	C	7: 41,215,612		probably benign	Het
Gm6614	T	A	6: 141,994,282	N145I	probably damaging	Het
Gria4	A	G	9: 4,456,122	L726P	probably damaging	Het
H2-M10.4	T	C	17: 36,460,626	E220G	probably benign	Het
Itga1	T	G	13: 114,966,590	N1102H	probably benign	Het
Itpk1	A	G	12: 102,588,553	I6T	probably damaging	Het
Kcnh4	T	C	11: 100,745,322	D833G	probably damaging	Het
Kdm1a	T	C	4: 136,568,701		probably null	Het
Kif24	G	A	4: 41,428,670	Q97*	probably null	Het
Klhl2	T	C	8: 64,749,728	I479V	probably benign	Het
Large1	T	C	8: 72,852,200	Y459C	probably damaging	Het
Lcn8	T	G	2: 25,655,497	L169R	probably damaging	Het
Loxl3	T	G	6: 83,037,511	S133R	probably damaging	Het
Lyzl4	A	G	9: 121,584,463	Y4H	unknown	Het
March7	A	G	2: 60,240,987	K612E	probably damaging	Het
Mreg	C	T	1: 72,192,200	G33D	probably benign	Het
Ms4a6c	A	C	19: 11,480,499		probably benign	Het
Nrbf2	G	A	10: 67,267,520	S268F	possibly damaging	Het
Olfr1157	A	T	2: 87,962,602	C97S	probably damaging	Het
Olfr196	A	G	16: 59,168,119	L8P	probably benign	Het
Olfr197	C	T	16: 59,185,728	V252I	unknown	Het
Olfr729	A	G	14: 50,148,763	V37A	probably benign	Het
Oog4	T	A	4: 143,437,723	I341F	probably benign	Het
Pcdhb5	G	A	18: 37,321,470	R301Q	probably benign	Het
Podn	T	C	4: 108,021,713	K174R	possibly damaging	Het
Pphln1	T	C	15: 93,455,532		probably null	Het
Prmt5	A	G	14: 54,514,887	F151L	possibly damaging	Het
Ptch1	A	T	13: 63,573,419		probably benign	Het
Rgl2	A	G	17: 33,932,038		probably null	Het
Ryr2	A	T	13: 11,660,122	I3373N	probably damaging	Het
Scap	A	G	9: 110,384,596	N1209S	probably benign	Het
Sin3b	T	C	8: 72,731,165	S170P	probably damaging	Het
Slc22a4	A	T	11: 53,996,028	I296N	probably damaging	Het
Slco2a1	T	C	9: 103,046,790	S68P	probably damaging	Het
Snx8	A	G	5: 140,353,480	C161R	probably benign	Het
Spryd3	C	T	15: 102,118,195	C347Y	probably benign	Het
Srsf11	C	T	3: 158,023,344		probably benign	Het
Strn3	T	C	12: 51,629,496	T333A	probably benign	Het
Swt1	T	A	1: 151,411,170	E190D	probably benign	Het
Tchh	A	T	3: 93,445,337	I695F	unknown	Het
Tfap4	G	A	16: 4,545,629	S314L	possibly damaging	Het
Tigd3	G	T	19: 5,891,866	T412K	probably benign	Het
Tmem184b	T	A	15: 79,365,481		probably null	Het
Trpa1	T	C	1: 14,898,135	D469G	probably benign	Het
Tssk1	T	C	16: 17,894,701	F117L	probably damaging	Het
Tuba3b	T	A	6: 145,619,745	M313K	probably damaging	Het
Tubgcp6	T	C	15: 89,109,217		probably null	Het
Vav1	A	G	17: 57,301,870	K345E	possibly damaging	Het
Zdhhc4	G	A	5: 143,324,886	R64C	probably damaging	Het
Zfp280d	T	A	9: 72,362,332	L892*	probably null	Het
Zfp46	T	A	4: 136,287,217	M3K	probably damaging	Het
Zfp607b	C	A	7: 27,702,416	P99Q	probably benign	Het
Zfp647	G	A	15: 76,912,085	P125L	probably damaging	Het
Zfp990	T	A	4: 145,538,043	I537N	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
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
R9712:Ppp2r1a	UTSW	17	20958796	missense	probably damaging	0.99
R9772:Ppp2r1a	UTSW	17	20961593	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- TCTTTAAATGTAGTGCAGCCCTG -3'
(R):5'- AAGCAGACACTTTTGCCTGTC -3'

Sequencing Primer
(F):5'- CTGAGATGCCCTGCCTATGAAAAG -3'
(R):5'- TGCCTGTCATCAACTTATCAAAGCAG -3'

Posted On

2017-02-28