Mutagenetix > Incidental Mutation

Incidental Mutation 'R6250:Ppp2r2a'

505936

Institutional Source

Beutler Lab

Gene Symbol

Ppp2r2a

Ensembl Gene

ENSMUSG00000022052

Gene Name

protein phosphatase 2, regulatory subunit B, alpha

Synonyms

2410004D02Rik

MMRRC Submission

044367-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6250 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

67251505-67309893 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 67276403 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 34 (V34E)

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: V34E

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

SMART Domains

Protein: ENSMUSP00000086640
Gene: ENSMUSG00000022052
AA Change: V34E

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 damaging
Transcript: ENSMUST00000225380
AA Change: V34E

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225469

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.5%

Validation Efficiency

98% (60/61)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd12	T	C	2: 150,681,667 (GRCm39)	Y241C	probably damaging	Het
Ak9	T	C	10: 41,265,030 (GRCm39)	V929A	possibly damaging	Het
Ap3s1	T	C	18: 46,887,514 (GRCm39)	F49S	probably damaging	Het
Atp9b	T	C	18: 80,799,736 (GRCm39)	H801R	probably benign	Het
B430218F22Rik	A	G	13: 118,523,944 (GRCm39)		probably benign	Het
Ccnd3	T	A	17: 47,908,487 (GRCm39)	L186*	probably null	Het
Cnbd1	T	A	4: 19,098,255 (GRCm39)	Q55L	probably benign	Het
Commd10	A	G	18: 47,096,755 (GRCm39)	E54G	probably damaging	Het
Cplx3	A	G	9: 57,522,907 (GRCm39)	V151A	probably benign	Het
D6Ertd527e	G	A	6: 87,088,194 (GRCm39)	G119D	unknown	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Disp2	A	T	2: 118,621,247 (GRCm39)	I660F	probably damaging	Het
Eef1a2	A	G	2: 180,792,853 (GRCm39)	F211L	possibly damaging	Het
Epb41	A	T	4: 131,717,184 (GRCm39)	F323L	probably damaging	Het
Eps8l3	A	T	3: 107,797,781 (GRCm39)	I403F	probably benign	Het
Ercc5	T	A	1: 44,203,209 (GRCm39)	V282D	probably damaging	Het
Faim	A	T	9: 98,874,176 (GRCm39)	M1L	probably benign	Het
Fbxo24	A	G	5: 137,619,543 (GRCm39)	F111L	probably damaging	Het
Fcgbpl1	G	A	7: 27,850,139 (GRCm39)	G1195D	probably damaging	Het
Glrx	A	T	13: 75,988,229 (GRCm39)	I48F	probably damaging	Het
Gucy2g	A	T	19: 55,205,856 (GRCm39)	L668Q	probably damaging	Het
Hectd4	A	G	5: 121,477,561 (GRCm39)	D2828G	possibly damaging	Het
Hivep2	T	C	10: 14,007,503 (GRCm39)	V1367A	probably benign	Het
Hrob	A	G	11: 102,145,888 (GRCm39)	T55A	probably benign	Het
Ipo13	A	G	4: 117,769,351 (GRCm39)	V147A	possibly damaging	Het
Jchain	T	C	5: 88,674,034 (GRCm39)	T37A	probably benign	Het
Kif1b	A	G	4: 149,298,100 (GRCm39)	V1034A	probably benign	Het
Krt25	T	A	11: 99,211,989 (GRCm39)	N216I	probably damaging	Het
Mfsd4b1	T	C	10: 39,879,106 (GRCm39)	S264G	possibly damaging	Het
Mxra8	G	T	4: 155,925,546 (GRCm39)	R82L	possibly damaging	Het
Nlrp1b	A	T	11: 71,072,625 (GRCm39)	I406N	probably benign	Het
Or13c7	T	C	4: 43,854,363 (GRCm39)	L18P	possibly damaging	Het
Or2y11	A	T	11: 49,442,711 (GRCm39)	I46F	probably damaging	Het
Or5h23	G	A	16: 58,906,195 (GRCm39)	S217F	probably damaging	Het
Pak5	T	C	2: 136,016,189 (GRCm39)		probably benign	Het
Pcsk4	T	C	10: 80,161,426 (GRCm39)	R222G	probably benign	Het
Pik3cb	A	C	9: 98,976,651 (GRCm39)	F149V	probably benign	Het
Plscr4	G	A	9: 92,366,881 (GRCm39)	R165Q	possibly damaging	Het
Prpf8	T	G	11: 75,384,334 (GRCm39)	S659R	possibly damaging	Het
Ptprd	A	G	4: 76,047,232 (GRCm39)	S342P	probably damaging	Het
Pum2	T	C	12: 8,794,755 (GRCm39)		probably null	Het
Ranbp3	T	G	17: 56,984,208 (GRCm39)		probably null	Het
Rassf7	A	G	7: 140,797,156 (GRCm39)	E123G	probably damaging	Het
Rcor1	G	T	12: 111,078,311 (GRCm39)	A469S	probably benign	Het
Rcor3	G	T	1: 191,785,196 (GRCm39)	P524Q	probably damaging	Het
Rnf44	A	T	13: 54,829,920 (GRCm39)		probably null	Het
Rtf1	T	C	2: 119,505,658 (GRCm39)	V37A	unknown	Het
Sdc4	A	T	2: 164,273,138 (GRCm39)	D57E	probably damaging	Het
Setbp1	T	C	18: 78,901,217 (GRCm39)	T817A	probably benign	Het
Setd1a	A	G	7: 127,390,471 (GRCm39)	E506G	unknown	Het
Slc30a8	G	A	15: 52,198,545 (GRCm39)	R330Q	probably benign	Het
Snx22	C	A	9: 65,976,923 (GRCm39)	E14*	probably null	Het
Spata31d1a	A	G	13: 59,849,615 (GRCm39)	S838P	possibly damaging	Het
Sprr4	G	T	3: 92,407,770 (GRCm39)	Q11K	unknown	Het
Trpm3	A	G	19: 22,887,418 (GRCm39)	N839S	probably benign	Het
Vps9d1	T	C	8: 123,974,947 (GRCm39)		probably null	Het
Vwa3b	T	C	1: 37,090,966 (GRCm39)		probably null	Het
Ythdf1	T	C	2: 180,552,893 (GRCm39)	T414A	probably damaging	Het
Zfp709	TCGACG	TCG	8: 72,644,552 (GRCm39)		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
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
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
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'- TCAGGGTCCAGCGTTAAAGC -3'
(R):5'- CCCACAAATAAGTGTCTGGTTTC -3'

Sequencing Primer
(F):5'- GCAACACTGAACTGTCAG -3'
(R):5'- ATCTTCCTGATTGGTTGAATGGC -3'

Posted On

2018-02-28