Mutagenetix > Incidental Mutation

Incidental Mutation 'R5106:Ppp2r2a'

392651

Institutional Source

Beutler Lab

Gene Symbol

Ppp2r2a

Ensembl Gene

ENSMUSG00000022052

Gene Name

protein phosphatase 2, regulatory subunit B, alpha

Synonyms

2410004D02Rik

MMRRC Submission

042694-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5106 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

67251505-67309893 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 67260546 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 244 (Y244C)

Ref Sequence

ENSEMBL: ENSMUSP00000153191 (fasta)

Gene Model

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

AlphaFold

Q6P1F6

Predicted Effect

probably damaging
Transcript: ENSMUST00000089230
AA Change: Y244C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000086640
Gene: ENSMUSG00000022052
AA Change: Y244C

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

noncoding transcript
Transcript: ENSMUST00000223630

Predicted Effect

probably benign
Transcript: ENSMUST00000225251

Predicted Effect

probably damaging
Transcript: ENSMUST00000225380
AA Change: Y244C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225469

Meta Mutation Damage Score

0.9587

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.9%
20x: 91.0%

Validation Efficiency

100% (62/62)

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
C1qtnf2	G	A	11: 43,376,880 (GRCm39)	R84Q	possibly damaging	Het
Carmil2	T	A	8: 106,420,638 (GRCm39)		probably null	Het
Cenpf	A	T	1: 189,416,005 (GRCm39)	C107S	probably benign	Het
Cideb	T	C	14: 55,991,982 (GRCm39)	M191V	probably benign	Het
Cope	C	A	8: 70,763,097 (GRCm39)	R213S	possibly damaging	Het
Ctcf	T	C	8: 106,408,130 (GRCm39)		probably benign	Het
Daam2	T	C	17: 49,783,489 (GRCm39)	Y647C	probably damaging	Het
Dlg2	T	C	7: 92,091,894 (GRCm39)	Y920H	probably damaging	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Het
Fdps	C	A	3: 89,006,710 (GRCm39)	R127L	probably damaging	Het
G6pd2	C	T	5: 61,967,695 (GRCm39)	T490I	probably benign	Het
Gm6401	A	G	14: 41,787,463 (GRCm39)	M121T	probably damaging	Het
Gnl2	T	C	4: 124,947,329 (GRCm39)		probably null	Het
Gprc5c	G	T	11: 114,755,093 (GRCm39)	V257L	possibly damaging	Het
Gtf2a1l	A	G	17: 89,002,073 (GRCm39)	S310G	possibly damaging	Het
Igdcc4	T	C	9: 65,031,983 (GRCm39)	F500L	probably damaging	Het
Lgr4	A	T	2: 109,827,940 (GRCm39)	H207L	probably damaging	Het
Llcfc1	A	G	6: 41,662,310 (GRCm39)	M105V	probably benign	Het
Macroh2a1	A	G	13: 56,236,106 (GRCm39)	V213A	possibly damaging	Het
Map2k3	A	G	11: 60,832,708 (GRCm39)	K18E	probably damaging	Het
Mccc1	T	A	3: 36,026,713 (GRCm39)	D528V	probably benign	Het
Nedd4l	C	T	18: 65,326,376 (GRCm39)	T568M	probably damaging	Het
Nr3c1	A	C	18: 39,619,654 (GRCm39)	I211S	possibly damaging	Het
Nudt5	C	T	2: 5,859,640 (GRCm39)		probably benign	Het
Or2ag20	T	A	7: 106,464,595 (GRCm39)	M136K	probably damaging	Het
Or5d46	T	C	2: 88,170,454 (GRCm39)	Y182H	probably benign	Het
Or6c202	T	C	10: 128,996,106 (GRCm39)	Y249C	probably damaging	Het
Or9k2b	A	T	10: 130,016,177 (GRCm39)	S191T	probably benign	Het
Pcid2	A	T	8: 13,129,648 (GRCm39)	F326I	probably damaging	Het
Pcnt	A	T	10: 76,237,278 (GRCm39)	I1336N	probably damaging	Het
Pomk	T	C	8: 26,476,404 (GRCm39)	D50G	probably benign	Het
Ptprz1	A	G	6: 23,000,027 (GRCm39)	T706A	probably benign	Het
Rad54l	G	A	4: 115,956,961 (GRCm39)		probably benign	Het
Raph1	T	C	1: 60,572,459 (GRCm39)	D36G	probably damaging	Het
Rgs7	A	G	1: 174,904,416 (GRCm39)	S166P	possibly damaging	Het
Rnf183	C	G	4: 62,346,465 (GRCm39)	R111P	probably damaging	Het
Rp1l1	A	T	14: 64,265,395 (GRCm39)	D327V	probably damaging	Het
Rpl3l	A	G	17: 24,951,411 (GRCm39)	Y156C	probably damaging	Het
Slc25a54	G	T	3: 109,020,180 (GRCm39)	C398F	probably benign	Het
Slc39a2	A	G	14: 52,132,988 (GRCm39)	*310W	probably null	Het
Slit3	T	C	11: 35,503,194 (GRCm39)	C464R	probably damaging	Het
Smu1	A	T	4: 40,743,104 (GRCm39)	F345I	possibly damaging	Het
Ssc5d	T	A	7: 4,939,664 (GRCm39)	V700E	probably benign	Het
Stxbp3	T	C	3: 108,702,243 (GRCm39)	Y521C	probably benign	Het
Tenm4	T	C	7: 96,492,356 (GRCm39)	S1061P	probably damaging	Het
Thoc5	T	C	11: 4,860,630 (GRCm39)	S103P	probably damaging	Het
Tmem221	A	G	8: 72,008,522 (GRCm39)	F173L	probably benign	Het
Trit1	T	C	4: 122,948,106 (GRCm39)		probably benign	Het
Ttc23l	G	T	15: 10,551,636 (GRCm39)	T30K	possibly damaging	Het
Vmn2r106	T	C	17: 20,499,395 (GRCm39)		probably null	Het
Vmn2r38	C	A	7: 9,078,169 (GRCm39)	V738L	possibly damaging	Het
Zfp160	T	A	17: 21,247,023 (GRCm39)	H524Q	probably damaging	Het
Zfp791	T	A	8: 85,837,259 (GRCm39)	K202*	probably null	Het
Zfp985	T	A	4: 147,668,612 (GRCm39)	S493R	probably damaging	Het
Zkscan7	T	C	9: 122,725,198 (GRCm39)		probably benign	Het
Zwilch	A	C	9: 64,060,866 (GRCm39)	F329V	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
R5322:Ppp2r2a	UTSW	14	67,276,322 (GRCm39)	critical splice donor site	probably null
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'- AACTGCGTACCATGCCTGAG -3'
(R):5'- TAACACTTCTGGGGTTTGCTC -3'

Sequencing Primer
(F):5'- GCGTACCATGCCTGAGAGTTTATC -3'
(R):5'- CACTTCTGGGGTTTGCTCATAAAAAG -3'

Posted On

2016-06-15