Mutagenetix > Incidental Mutation

Incidental Mutation 'R5322:Ppp2r2a'

404925

Institutional Source

Beutler Lab

Gene Symbol

Ppp2r2a

Ensembl Gene

ENSMUSG00000022052

Gene Name

protein phosphatase 2, regulatory subunit B, alpha

Synonyms

2410004D02Rik

MMRRC Submission

042905-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5322 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

67251505-67309893 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 67276322 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000153191 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000089230] [ENSMUST00000225251] [ENSMUST00000225380]

AlphaFold

Q6P1F6

Predicted Effect

probably null
Transcript: ENSMUST00000089230

SMART Domains

Protein: ENSMUSP00000086640
Gene: ENSMUSG00000022052

Domain	Start	End	E-Value	Type
WD40	21	56	1.33e1	SMART
WD40	83	123	6.88e0	SMART
WD40	165	204	2.3e0	SMART
WD40	215	255	8.88e0	SMART
WD40	274	312	5.11e1	SMART
WD40	339	370	1.42e2	SMART
WD40	406	443	2.47e1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000225251

Predicted Effect

probably null
Transcript: ENSMUST00000225380

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225469

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of this gene belongs to the phosphatase 2 regulatory subunit B family. 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 B regulatory subunit might modulate substrate selectivity and catalytic activity. This gene encodes an alpha isoform of the regulatory subunit B55 subfamily. Alternatively spliced transcript variants have been described. [provided by RefSeq, Apr 2010]

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts3	C	T	5: 89,855,159 (GRCm39)		probably null	Het
Ankar	T	C	1: 72,729,545 (GRCm39)		probably null	Het
Ankrd60	T	A	2: 173,410,610 (GRCm39)	K303N	possibly damaging	Het
Appbp2	A	G	11: 85,086,890 (GRCm39)		probably null	Het
Arvcf	T	C	16: 18,215,508 (GRCm39)	M176T	probably benign	Het
Cachd1	T	C	4: 100,809,319 (GRCm39)	I268T	probably damaging	Het
Ccdc66	A	G	14: 27,204,484 (GRCm39)	S933P	probably damaging	Het
Cfi	C	T	3: 129,666,689 (GRCm39)	P471S	probably damaging	Het
Ckmt2	G	T	13: 92,009,891 (GRCm39)	T143K	possibly damaging	Het
Cnksr3	A	T	10: 7,085,078 (GRCm39)	D15E	probably damaging	Het
Copb2	A	T	9: 98,468,029 (GRCm39)	K680N	probably benign	Het
D2hgdh	T	C	1: 93,757,620 (GRCm39)		probably null	Het
Dcn	A	T	10: 97,353,464 (GRCm39)	T338S	probably benign	Het
Dipk2a	A	G	9: 94,402,615 (GRCm39)	I349T	probably benign	Het
Dnah10	G	A	5: 124,850,630 (GRCm39)	G1644D	probably damaging	Het
Dnah5	A	G	15: 28,384,390 (GRCm39)	I3045V	probably benign	Het
Dock3	G	A	9: 106,779,028 (GRCm39)	T307I	probably benign	Het
Dock5	A	T	14: 68,007,715 (GRCm39)	I1498N	probably benign	Het
Emc1	A	T	4: 139,081,557 (GRCm39)	N62Y	probably damaging	Het
Enpp6	C	A	8: 47,521,950 (GRCm39)	H295N	probably benign	Het
Epha10	A	G	4: 124,779,541 (GRCm39)	Y129C	probably damaging	Het
Fbn2	A	T	18: 58,172,387 (GRCm39)	D2139E	probably benign	Het
Fbxl12	A	T	9: 20,550,304 (GRCm39)	V140E	probably damaging	Het
Fignl1	A	T	11: 11,751,571 (GRCm39)	F495I	probably damaging	Het
Gm43302	C	T	5: 105,365,347 (GRCm39)	A554T	probably benign	Het
Gpr157	A	G	4: 150,183,309 (GRCm39)	N160D	probably benign	Het
Il1rn	G	A	2: 24,238,641 (GRCm39)		probably null	Het
Kctd13	T	A	7: 126,528,378 (GRCm39)	L51Q	probably damaging	Het
Kndc1	T	C	7: 139,516,722 (GRCm39)	F1561L	probably damaging	Het
Mast2	A	G	4: 116,190,608 (GRCm39)		probably null	Het
Mib1	A	G	18: 10,792,975 (GRCm39)	H637R	probably damaging	Het
Moxd1	A	T	10: 24,120,151 (GRCm39)	N93I	possibly damaging	Het
Mycbp2	T	C	14: 103,423,119 (GRCm39)		probably null	Het
Myot	T	C	18: 44,487,216 (GRCm39)	F351S	probably benign	Het
N4bp2	T	A	5: 65,947,800 (GRCm39)	N143K	possibly damaging	Het
Or10ac1	T	C	6: 42,515,950 (GRCm39)	D2G	probably benign	Het
Or2ah1	T	A	2: 85,653,531 (GRCm39)	I72N	probably damaging	Het
Or51b6b	T	C	7: 103,309,879 (GRCm39)	I193V	possibly damaging	Het
Or52a20	T	A	7: 103,366,319 (GRCm39)	W173R	probably benign	Het
Or52n2	C	T	7: 104,542,371 (GRCm39)	V155I	probably benign	Het
Or8b3	A	T	9: 38,314,862 (GRCm39)	I228F	probably damaging	Het
Or8b52	T	A	9: 38,576,502 (GRCm39)	I213L	probably benign	Het
Patl1	C	T	19: 11,898,223 (GRCm39)	R134*	probably null	Het
Paxbp1	T	C	16: 90,812,050 (GRCm39)	I887V	probably benign	Het
Pi4kb	G	A	3: 94,901,560 (GRCm39)	R436Q	probably benign	Het
Pla2g3	A	G	11: 3,438,686 (GRCm39)	E112G	probably benign	Het
Rela	T	A	19: 5,695,408 (GRCm39)	S311R	possibly damaging	Het
Sidt1	T	A	16: 44,101,985 (GRCm39)		probably benign	Het
Smco2	T	C	6: 146,772,785 (GRCm39)	L329P	probably damaging	Het
Speer4f1	A	T	5: 17,682,347 (GRCm39)	I77F	possibly damaging	Het
Tex14	A	G	11: 87,402,298 (GRCm39)	I462V	probably benign	Het
Tmem260	C	T	14: 48,724,306 (GRCm39)	R385W	probably damaging	Het
Trrap	T	C	5: 144,781,034 (GRCm39)	V2974A	probably damaging	Het
Usp47	C	T	7: 111,652,476 (GRCm39)	T31I	probably damaging	Het
Zc2hc1a	A	G	3: 7,616,481 (GRCm39)	N247S	probably benign	Het
Zeb2	A	C	2: 44,887,107 (GRCm39)	M582R	probably damaging	Het

Other mutations in Ppp2r2a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01620:Ppp2r2a	APN	14	67,307,726 (GRCm39)	missense	probably damaging	0.96
IGL01997:Ppp2r2a	APN	14	67,253,968 (GRCm39)	missense	probably benign
IGL02024:Ppp2r2a	APN	14	67,276,361 (GRCm39)	missense	probably benign	0.06
IGL02178:Ppp2r2a	APN	14	67,260,546 (GRCm39)	missense	probably damaging	1.00
IGL03148:Ppp2r2a	APN	14	67,259,744 (GRCm39)	missense	probably benign	0.00
IGL03304:Ppp2r2a	APN	14	67,253,977 (GRCm39)	missense	probably benign	0.13
limber	UTSW	14	67,257,253 (GRCm39)	missense	probably damaging	1.00
R1216:Ppp2r2a	UTSW	14	67,266,447 (GRCm39)	nonsense	probably null
R1576:Ppp2r2a	UTSW	14	67,276,318 (GRCm39)	splice site	probably benign
R1629:Ppp2r2a	UTSW	14	67,257,208 (GRCm39)	missense	possibly damaging	0.93
R1662:Ppp2r2a	UTSW	14	67,254,052 (GRCm39)	missense	probably benign
R1808:Ppp2r2a	UTSW	14	67,276,412 (GRCm39)	missense	probably damaging	1.00
R1937:Ppp2r2a	UTSW	14	67,253,878 (GRCm39)	missense	possibly damaging	0.93
R2121:Ppp2r2a	UTSW	14	67,260,577 (GRCm39)	missense	probably damaging	1.00
R2134:Ppp2r2a	UTSW	14	67,253,924 (GRCm39)	missense	possibly damaging	0.63
R3150:Ppp2r2a	UTSW	14	67,261,214 (GRCm39)	missense	probably damaging	1.00
R3694:Ppp2r2a	UTSW	14	67,257,199 (GRCm39)	missense	probably damaging	1.00
R3695:Ppp2r2a	UTSW	14	67,257,199 (GRCm39)	missense	probably damaging	1.00
R3825:Ppp2r2a	UTSW	14	67,259,892 (GRCm39)	missense	probably damaging	0.98
R4031:Ppp2r2a	UTSW	14	67,266,425 (GRCm39)	missense	probably damaging	1.00
R4209:Ppp2r2a	UTSW	14	67,266,328 (GRCm39)	missense	probably damaging	1.00
R4353:Ppp2r2a	UTSW	14	67,266,386 (GRCm39)	missense	probably damaging	1.00
R4639:Ppp2r2a	UTSW	14	67,276,406 (GRCm39)	missense	probably damaging	1.00
R4976:Ppp2r2a	UTSW	14	67,254,086 (GRCm39)	missense	possibly damaging	0.71
R5001:Ppp2r2a	UTSW	14	67,259,757 (GRCm39)	nonsense	probably null
R5106:Ppp2r2a	UTSW	14	67,260,546 (GRCm39)	missense	probably damaging	1.00
R5360:Ppp2r2a	UTSW	14	67,254,020 (GRCm39)	nonsense	probably null
R5429:Ppp2r2a	UTSW	14	67,261,205 (GRCm39)	missense	probably damaging	1.00
R5439:Ppp2r2a	UTSW	14	67,259,772 (GRCm39)	missense	possibly damaging	0.70
R6250:Ppp2r2a	UTSW	14	67,276,403 (GRCm39)	missense	probably damaging	1.00
R6582:Ppp2r2a	UTSW	14	67,257,253 (GRCm39)	missense	probably damaging	1.00
R8263:Ppp2r2a	UTSW	14	67,261,205 (GRCm39)	missense	probably damaging	1.00
R8315:Ppp2r2a	UTSW	14	67,261,177 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGCAGCTAAGCCTTGAGAGG -3'
(R):5'- TGTGCATAGATGGAGAATGCTG -3'

Sequencing Primer
(F):5'- AGACTTCAAATCTGGCTCAGTCTCAG -3'
(R):5'- TGGAGAATGCTGATATGAACATCC -3'

Posted On

2016-07-22