Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03351:Ppp2r3a'

419702

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ppp2r3a

Ensembl Gene

ENSMUSG00000043154

Gene Name

protein phosphatase 2, regulatory subunit B'', alpha

Synonyms

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03351

Quality Score

Status

Chromosome

Chromosomal Location

101105084-101251795 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 101211192 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 644 (G644D)

Ref Sequence

ENSEMBL: ENSMUSP00000075327 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075941]

AlphaFold

B2RXC8

Predicted Effect

probably benign
Transcript: ENSMUST00000075941
AA Change: G644D

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000075327
Gene: ENSMUSG00000043154
AA Change: G644D

Domain	Start	End	E-Value	Type
low complexity region	248	266	N/A	INTRINSIC
Blast:EFh	760	789	1e-9	BLAST
Pfam:EF-hand_7	902	1000	2.5e-17	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000191226

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes one of the regulatory subunits of the protein phosphatase 2. Protein phosphatase 2 (formerly named type 2A) is one of the four major Ser/Thr phosphatases and is implicated in the negative control of cell growth and division. Protein phosphatase 2 holoenzymes are heterotrimeric proteins composed of a structural subunit A, a catalytic subunit C, and a regulatory subunit B. The regulatory subunit is encoded by a diverse set of genes that have been grouped into the B/PR55, B'/PR61, and B''/PR72 families. These different regulatory subunits confer distinct enzymatic specificities and intracellular localizations to the holozenzyme. The product of this gene belongs to the B'' family. The B'' family has been further divided into subfamilies. The product of this gene belongs to the alpha subfamily of regulatory subunit B''. Alternative splicing results in multiple transcript variants encoding different isoforms.[provided by RefSeq, Jun 2010]

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930550L24Rik	G	A	X: 58,918,937	V19I	probably benign	Het
4932414N04Rik	T	A	2: 68,731,083	D251E	probably benign	Het
4932415D10Rik	T	C	10: 82,283,567		probably benign	Het
5730460C07Rik	C	T	3: 153,789,958		noncoding transcript	Het
Coch	G	A	12: 51,603,206	R326Q	probably benign	Het
Cpa3	A	G	3: 20,215,962	V366A	probably benign	Het
Csf1r	C	T	18: 61,117,108	Q382*	probably null	Het
Csta1	C	A	16: 36,131,041	G4*	probably null	Het
Cts7	T	C	13: 61,356,603	R49G	probably damaging	Het
Dlg5	A	G	14: 24,170,454	V575A	probably benign	Het
Ero1l	G	T	14: 45,294,533	N227K	probably benign	Het
Faap24	G	T	7: 35,395,309	C58*	probably null	Het
Gm13089	G	A	4: 143,697,088	T377I	possibly damaging	Het
Hfm1	G	A	5: 106,911,575	Q194*	probably null	Het
Hs3st5	T	A	10: 36,833,323	Y285N	probably damaging	Het
Hyal6	G	A	6: 24,743,429	G375R	probably damaging	Het
Itgb5	T	C	16: 33,910,552	S93P	probably benign	Het
Kcnj6	A	T	16: 94,832,583	M205K	probably damaging	Het
Kdm6a	C	T	X: 18,247,104	Q92*	probably null	Het
Klhl38	A	G	15: 58,323,330	M1T	probably null	Het
Krtap7-1	T	C	16: 89,507,996		probably benign	Het
L1cam	T	C	X: 73,863,028	T270A	probably damaging	Het
Lmod2	A	G	6: 24,598,016	N45S	probably benign	Het
Mmp2	A	G	8: 92,839,342	I424V	probably benign	Het
Myh8	A	G	11: 67,303,913	Q1650R	possibly damaging	Het
Naalad2	T	A	9: 18,364,187	E313V	possibly damaging	Het
Nipsnap3a	A	G	4: 52,994,134	T74A	probably benign	Het
Npr2	G	T	4: 43,640,652	M368I	probably benign	Het
Nupl1	T	C	14: 60,228,775	T445A	probably benign	Het
Olfr294	A	G	7: 86,615,677	Y323H	possibly damaging	Het
Olfr582	A	G	7: 103,042,130	D212G	probably damaging	Het
Pkp3	A	G	7: 141,082,693	T73A	probably benign	Het
Pole	A	G	5: 110,301,998		probably benign	Het
Ptprb	T	C	10: 116,339,582	Y1161H	probably benign	Het
Ptprs	T	A	17: 56,437,943	K264N	probably damaging	Het
Rasal2	T	C	1: 157,192,741		probably benign	Het
Serpina6	A	T	12: 103,646,913	I376N	probably damaging	Het
Setx	T	G	2: 29,161,799	I2062M	probably benign	Het
Slc9c1	A	G	16: 45,543,168	D99G	probably benign	Het
Taok1	A	G	11: 77,560,328	Y309H	probably damaging	Het
Trappc10	T	C	10: 78,188,761	D1178G	probably damaging	Het
Trav5-1	G	A	14: 52,622,845	E36K	probably damaging	Het
Vmn1r237	T	C	17: 21,314,837	V274A	probably benign	Het
Vmn1r29	A	T	6: 58,307,750	S152C	probably damaging	Het
Washc5	C	A	15: 59,363,350		probably benign	Het
Zfp369	T	G	13: 65,296,153	L370R	possibly damaging	Het
Zfp750	T	C	11: 121,513,347	Y234C	probably damaging	Het

Other mutations in Ppp2r3a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00792:Ppp2r3a	APN	9	101211301	missense	possibly damaging	0.50
IGL01122:Ppp2r3a	APN	9	101211645	missense	probably benign	0.30
IGL02332:Ppp2r3a	APN	9	101180403	missense	possibly damaging	0.78
IGL02653:Ppp2r3a	APN	9	101211693	missense	probably benign	0.13
IGL03329:Ppp2r3a	APN	9	101126431	splice site	probably benign
lank	UTSW	9	101198630	critical splice donor site	probably null
PIT4480001:Ppp2r3a	UTSW	9	101126377	missense	possibly damaging	0.95
PIT4687001:Ppp2r3a	UTSW	9	101144380	missense	probably benign	0.00
R0243:Ppp2r3a	UTSW	9	101212284	missense	probably damaging	1.00
R1004:Ppp2r3a	UTSW	9	101198630	critical splice donor site	probably null
R1086:Ppp2r3a	UTSW	9	101153822	missense	possibly damaging	0.67
R1215:Ppp2r3a	UTSW	9	101212684	missense	probably benign	0.02
R1245:Ppp2r3a	UTSW	9	101194394	missense	probably damaging	0.99
R1458:Ppp2r3a	UTSW	9	101211312	missense	probably damaging	1.00
R1682:Ppp2r3a	UTSW	9	101212306	missense	probably benign	0.00
R1857:Ppp2r3a	UTSW	9	101212893	missense	probably damaging	0.96
R1972:Ppp2r3a	UTSW	9	101211777	missense	probably benign	0.00
R2029:Ppp2r3a	UTSW	9	101145481	missense	probably damaging	1.00
R2076:Ppp2r3a	UTSW	9	101144371	missense	possibly damaging	0.83
R2135:Ppp2r3a	UTSW	9	101211558	missense	probably damaging	0.99
R2180:Ppp2r3a	UTSW	9	101127015	nonsense	probably null
R3155:Ppp2r3a	UTSW	9	101212360	missense	possibly damaging	0.56
R4797:Ppp2r3a	UTSW	9	101211980	missense	probably benign	0.01
R4829:Ppp2r3a	UTSW	9	101212510	missense	possibly damaging	0.67
R5269:Ppp2r3a	UTSW	9	101153865	missense	probably damaging	0.98
R5917:Ppp2r3a	UTSW	9	101211984	missense	probably benign	0.10
R5939:Ppp2r3a	UTSW	9	101212625	missense	probably benign	0.37
R6089:Ppp2r3a	UTSW	9	101211636	missense	probably benign	0.00
R6254:Ppp2r3a	UTSW	9	101148587	missense	possibly damaging	0.75
R6574:Ppp2r3a	UTSW	9	101194385	missense	probably benign	0.03
R6776:Ppp2r3a	UTSW	9	101212862	missense	probably benign	0.00
R6927:Ppp2r3a	UTSW	9	101175348	missense	probably damaging	1.00
R7189:Ppp2r3a	UTSW	9	101126422	missense	possibly damaging	0.59
R7190:Ppp2r3a	UTSW	9	101212527	missense	probably benign	0.11
R7288:Ppp2r3a	UTSW	9	101127004	missense	probably damaging	0.98
R7292:Ppp2r3a	UTSW	9	101212672	missense	probably damaging	0.96
R7512:Ppp2r3a	UTSW	9	101175333	missense	possibly damaging	0.69
R7655:Ppp2r3a	UTSW	9	101211712	missense	probably benign	0.30
R7656:Ppp2r3a	UTSW	9	101211712	missense	probably benign	0.30
R8174:Ppp2r3a	UTSW	9	101213302	start gained	probably benign
R8195:Ppp2r3a	UTSW	9	101213032	missense	probably damaging	1.00
R8344:Ppp2r3a	UTSW	9	101211786	missense	probably benign	0.03
R8720:Ppp2r3a	UTSW	9	101211885	missense	probably damaging	1.00
R8775:Ppp2r3a	UTSW	9	101127005	missense	probably benign	0.00
R8775-TAIL:Ppp2r3a	UTSW	9	101127005	missense	probably benign	0.00
R8853:Ppp2r3a	UTSW	9	101212911	missense	probably benign	0.05
R8958:Ppp2r3a	UTSW	9	101211435	missense	probably benign
R9069:Ppp2r3a	UTSW	9	101212807	missense	probably benign	0.02
R9210:Ppp2r3a	UTSW	9	101185976	missense	probably benign	0.09
R9212:Ppp2r3a	UTSW	9	101185976	missense	probably benign	0.09
R9404:Ppp2r3a	UTSW	9	101148641	missense	probably damaging	1.00
X0020:Ppp2r3a	UTSW	9	101212039	missense	probably benign	0.19
Z1176:Ppp2r3a	UTSW	9	101126389	missense	possibly damaging	0.67

Posted On

2016-08-02