Mutagenetix > Incidental Mutation

Incidental Mutation 'R3825:Ppp2r2a'

275366

Institutional Source

Beutler Lab

Gene Symbol

Ppp2r2a

Ensembl Gene

ENSMUSG00000022052

Gene Name

protein phosphatase 2, regulatory subunit B, alpha

Synonyms

2410004D02Rik

MMRRC Submission

040774-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3825 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

67251505-67309893 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 67259892 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 268 (L268P)

Ref Sequence

ENSEMBL: ENSMUSP00000153191 (fasta)

Gene Model

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

AlphaFold

Q6P1F6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000089230
AA Change: L268P

PolyPhen 2 Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000086640
Gene: ENSMUSG00000022052
AA Change: L268P

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: L268P

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225469

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.6%
20x: 96.0%

Validation Efficiency

98% (63/64)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6030468B19Rik	A	G	11: 117,693,739 (GRCm39)	K69E	probably damaging	Het
Abcb5	C	T	12: 118,865,087 (GRCm39)		probably null	Het
Acot1	G	T	12: 84,061,194 (GRCm39)	G167*	probably null	Het
Agbl1	C	T	7: 76,069,715 (GRCm39)	H164Y	probably damaging	Het
Atp4b	T	C	8: 13,443,549 (GRCm39)	Y43C	probably damaging	Het
Bsn	T	C	9: 107,984,055 (GRCm39)	D3333G	unknown	Het
Ccdc27	A	C	4: 154,120,742 (GRCm39)	D351E	unknown	Het
Cd200r4	T	C	16: 44,641,313 (GRCm39)	F19L	probably benign	Het
Dbndd1	T	A	8: 124,236,731 (GRCm39)	I75F	probably damaging	Het
Dennd5b	T	C	6: 148,946,334 (GRCm39)	K426E	probably benign	Het
Drg2	A	G	11: 60,350,334 (GRCm39)	T98A	possibly damaging	Het
Fabp3	C	T	4: 130,206,245 (GRCm39)		probably null	Het
Fmo1	T	C	1: 162,678,916 (GRCm39)		probably benign	Het
Foxn2	A	T	17: 88,791,837 (GRCm39)	I236F	probably damaging	Het
Glmp	G	A	3: 88,233,718 (GRCm39)	V107I	probably damaging	Het
Gpr15	A	G	16: 58,538,723 (GRCm39)	F122S	probably damaging	Het
Gvin-ps3	T	C	7: 105,682,780 (GRCm39)	I158M	possibly damaging	Het
Hmcn1	A	T	1: 150,462,716 (GRCm39)	D5140E	probably benign	Het
Hspa1a	C	T	17: 35,190,703 (GRCm39)	V67M	probably damaging	Het
Igfbp4	A	G	11: 98,939,061 (GRCm39)	E27G	probably damaging	Het
Il7	A	G	3: 7,642,226 (GRCm39)		probably benign	Het
Kat6a	G	T	8: 23,352,380 (GRCm39)	V55F	probably damaging	Het
Kynu	A	G	2: 43,571,451 (GRCm39)	T456A	probably benign	Het
Lcorl	A	G	5: 45,932,729 (GRCm39)		probably benign	Het
Lrp5	G	A	19: 3,655,290 (GRCm39)	R1077*	probably null	Het
Mab21l2	T	C	3: 86,454,211 (GRCm39)	E263G	possibly damaging	Het
Macf1	T	A	4: 123,338,744 (GRCm39)	D1436V	probably benign	Het
Map4k2	C	A	19: 6,394,081 (GRCm39)	T252N	probably benign	Het
Mterf2	A	T	10: 84,956,147 (GRCm39)	L159Q	probably damaging	Het
Muc5ac	C	A	7: 141,368,460 (GRCm39)	T3063K	possibly damaging	Het
Myo18a	T	A	11: 77,668,292 (GRCm39)	S51T	possibly damaging	Het
Ncoa3	G	T	2: 165,896,718 (GRCm39)	G503V	possibly damaging	Het
Ncor1	A	T	11: 62,264,183 (GRCm39)	H406Q	probably benign	Het
Nectin2	T	C	7: 19,458,510 (GRCm39)	K434E	possibly damaging	Het
Nipal2	A	T	15: 34,578,852 (GRCm39)		probably null	Het
Nub1	G	C	5: 24,912,851 (GRCm39)	S517T	probably benign	Het
Or10a4	T	C	7: 106,696,816 (GRCm39)	L48P	possibly damaging	Het
Or4d10c	A	G	19: 12,065,391 (GRCm39)	V255A	probably damaging	Het
Or8b101	A	T	9: 38,020,134 (GRCm39)	I51F	possibly damaging	Het
Or8c17	T	G	9: 38,179,814 (GRCm39)	S2A	probably benign	Het
Plscr3	G	A	11: 69,740,964 (GRCm39)	V267M	probably benign	Het
Plxnb2	G	T	15: 89,050,602 (GRCm39)	N451K	probably benign	Het
Ptprb	A	T	10: 116,186,694 (GRCm39)	I1743F	probably benign	Het
Rack1	A	G	11: 48,693,131 (GRCm39)	T105A	probably benign	Het
Rhot1	G	A	11: 80,116,907 (GRCm39)	V94I	probably damaging	Het
Rin2	C	T	2: 145,702,366 (GRCm39)	T354I	probably benign	Het
Smc6	T	A	12: 11,351,517 (GRCm39)		probably benign	Het
Spink8	T	A	9: 109,645,861 (GRCm39)	V11D	probably damaging	Het
Ss18l1	A	T	2: 179,705,103 (GRCm39)	Q365L	unknown	Het
Tbc1d31	T	A	15: 57,779,474 (GRCm39)	H62Q	probably benign	Het
Tbc1d9b	T	C	11: 50,061,954 (GRCm39)	V1171A	possibly damaging	Het
Tln1	G	A	4: 43,536,413 (GRCm39)		probably benign	Het
Tmem220	G	A	11: 66,916,077 (GRCm39)	A25T	possibly damaging	Het
Tmem259	T	C	10: 79,814,282 (GRCm39)	N334S	possibly damaging	Het
Tmod3	A	T	9: 75,414,809 (GRCm39)		probably benign	Het
Tmprss2	A	T	16: 97,398,021 (GRCm39)	Y52N	probably damaging	Het
Tsga10	A	T	1: 37,873,278 (GRCm39)	N200K	possibly damaging	Het
Ube2frt	T	C	12: 36,141,036 (GRCm39)		probably benign	Het
Vmn1r189	T	A	13: 22,286,382 (GRCm39)	T152S	probably benign	Het
Vmn2r76	C	T	7: 85,880,415 (GRCm39)	M90I	probably benign	Het
Zfr	C	T	15: 12,166,277 (GRCm39)	A849V	probably damaging	Het
Znhit6	T	C	3: 145,284,099 (GRCm39)	M95T	probably benign	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
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
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'- TACCTGGTATGTCTCCACGG -3'
(R):5'- AACAATGATCCCTCCCATGG -3'

Sequencing Primer
(F):5'- ACGGGCCTGTTCTCCATATTCAAG -3'
(R):5'- TGCTGTGCAGAATCAGACC -3'

Posted On

2015-04-02