Mutagenetix > Incidental Mutation

Incidental Mutation 'R5769:Ppp2r5a'

501506

Institutional Source

Beutler Lab

Gene Symbol

Ppp2r5a

Ensembl Gene

ENSMUSG00000026626

Gene Name

protein phosphatase 2, regulatory subunit B', alpha

Synonyms

MMRRC Submission

043369-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.196) question?

Stock #

R5769 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

191084178-191129238 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 191104863 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 61 (D61G)

Ref Sequence

ENSEMBL: ENSMUSP00000070726 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000067976]

AlphaFold

Q6PD03

Predicted Effect

probably benign
Transcript: ENSMUST00000067976
AA Change: D61G

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000070726
Gene: ENSMUSG00000026626
AA Change: D61G

Domain	Start	End	E-Value	Type
low complexity region	2	18	N/A	INTRINSIC
low complexity region	30	51	N/A	INTRINSIC
Pfam:B56	56	462	3.6e-193	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000191925

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192334

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000195605

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000195859

Meta Mutation Damage Score

0.1037

Coding Region Coverage

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

Validation Efficiency

98% (65/66)

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 2A regulatory subunit B family. Protein phosphatase 2A 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 B56 subfamily. Alternative transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Dec 2010]

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A430033K04Rik	T	A	5: 138,644,595 (GRCm39)	V160E	possibly damaging	Het
Abcb1a	A	C	5: 8,733,426 (GRCm39)	E106A	probably benign	Het
Acap3	A	T	4: 155,986,857 (GRCm39)	D371V	probably damaging	Het
Ahi1	T	C	10: 20,835,981 (GRCm39)		probably null	Het
Coq8a	A	G	1: 180,006,681 (GRCm39)	Y69H	probably damaging	Het
Defb33	T	A	8: 21,387,543 (GRCm39)	F27I	possibly damaging	Het
Dhx29	T	A	13: 113,090,251 (GRCm39)	L776Q	probably damaging	Het
Dnah3	G	A	7: 119,689,175 (GRCm39)	R80*	probably null	Het
Dtna	A	T	18: 23,784,611 (GRCm39)	D646V	probably benign	Het
Eml5	T	A	12: 98,756,878 (GRCm39)	D1964V	probably damaging	Het
Fbn2	A	T	18: 58,238,271 (GRCm39)	N575K	probably damaging	Het
Fbxo38	G	A	18: 62,648,036 (GRCm39)	P834L	probably benign	Het
Fyb2	G	T	4: 104,870,518 (GRCm39)	K706N	probably damaging	Het
Fyb2	T	A	4: 104,872,841 (GRCm39)	V738E	probably damaging	Het
Gcm1	A	G	9: 77,972,249 (GRCm39)	T397A	probably benign	Het
Gins1	A	T	2: 150,767,918 (GRCm39)	E149D	probably damaging	Het
Gm11595	G	A	11: 99,663,381 (GRCm39)	R100C	unknown	Het
Grin2a	C	T	16: 9,579,390 (GRCm39)	R291K	possibly damaging	Het
Hdac10	T	C	15: 89,007,819 (GRCm39)	M646V	probably benign	Het
Hes6	G	T	1: 91,340,671 (GRCm39)	R38S	probably damaging	Het
Hipk3	G	A	2: 104,265,298 (GRCm39)	P667S	possibly damaging	Het
Jrk	T	C	15: 74,577,917 (GRCm39)	Q456R	probably benign	Het
Klf18	A	C	4: 117,586,162 (GRCm39)		probably benign	Het
Loxl3	A	G	6: 83,027,581 (GRCm39)	T708A	probably damaging	Het
Lyg1	T	C	1: 37,989,831 (GRCm39)	S19G	unknown	Het
Magel2	T	A	7: 62,027,861 (GRCm39)	M255K	probably benign	Het
Mctp1	A	G	13: 76,907,927 (GRCm39)	D242G	probably damaging	Het
Med13	A	T	11: 86,236,829 (GRCm39)	N109K	probably benign	Het
Mms19	A	G	19: 41,952,825 (GRCm39)	F95L	probably damaging	Het
Nav1	A	G	1: 135,379,995 (GRCm39)	L1569P	probably damaging	Het
Nup188	A	G	2: 30,220,747 (GRCm39)	E940G	probably benign	Het
Oas1d	T	C	5: 121,054,917 (GRCm39)	F163S	probably benign	Het
Odf2l	A	G	3: 144,841,492 (GRCm39)	K304R	possibly damaging	Het
Otud3	T	A	4: 138,625,421 (GRCm39)	N211I	possibly damaging	Het
Pabpc6	A	T	17: 9,886,772 (GRCm39)	L593*	probably null	Het
Pdcd11	T	A	19: 47,091,076 (GRCm39)	L350Q	possibly damaging	Het
Pdia4	A	G	6: 47,792,446 (GRCm39)		probably benign	Het
Pik3cb	G	A	9: 98,975,212 (GRCm39)	Q223*	probably null	Het
Plb1	G	A	5: 32,474,866 (GRCm39)	V696M	probably benign	Het
Preb	G	T	5: 31,115,635 (GRCm39)	Y87*	probably null	Het
Rdh16f2	A	T	10: 127,712,758 (GRCm39)	N252I	probably benign	Het
Rida	T	C	15: 34,484,704 (GRCm39)		probably benign	Het
Rxrb	T	C	17: 34,251,821 (GRCm39)		probably benign	Het
Sis	T	A	3: 72,835,568 (GRCm39)	K931N	probably damaging	Het
Srcap	T	A	7: 127,158,994 (GRCm39)		probably benign	Het
Srp68	A	G	11: 116,137,495 (GRCm39)	S525P	probably damaging	Het
Susd2	C	T	10: 75,473,853 (GRCm39)	A581T	probably damaging	Het
Synj1	A	G	16: 90,735,141 (GRCm39)		probably benign	Het
Syt12	T	C	19: 4,501,072 (GRCm39)	Y326C	probably damaging	Het
Tesk2	A	G	4: 116,659,512 (GRCm39)		probably null	Het
Tmem41b	G	A	7: 109,577,945 (GRCm39)	T113I	possibly damaging	Het
Tmtc2	T	C	10: 105,205,907 (GRCm39)	I463V	probably benign	Het
Trak1	A	T	9: 121,277,904 (GRCm39)	D320V	probably damaging	Het
Ushbp1	A	T	8: 71,838,863 (GRCm39)	N570K	probably benign	Het
Vmn1r33	T	A	6: 66,588,817 (GRCm39)	I246F	possibly damaging	Het
Vmn2r54	A	C	7: 12,349,209 (GRCm39)	L791R	possibly damaging	Het
Washc1	A	T	17: 66,425,111 (GRCm39)	T372S	probably benign	Het
Zfp1005	A	G	2: 150,110,198 (GRCm39)	E296G	possibly damaging	Het

Other mutations in Ppp2r5a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03297:Ppp2r5a	APN	1	191,086,959 (GRCm39)	missense	probably benign	0.28
R1640:Ppp2r5a	UTSW	1	191,086,126 (GRCm39)	missense	probably damaging	0.99
R3005:Ppp2r5a	UTSW	1	191,091,173 (GRCm39)	missense	probably damaging	1.00
R4810:Ppp2r5a	UTSW	1	191,088,589 (GRCm39)	unclassified	probably benign
R5730:Ppp2r5a	UTSW	1	191,104,732 (GRCm39)	missense	probably benign	0.04
R5783:Ppp2r5a	UTSW	1	191,086,837 (GRCm39)	missense	probably damaging	0.98
R6215:Ppp2r5a	UTSW	1	191,094,447 (GRCm39)	missense	probably benign	0.02
R7311:Ppp2r5a	UTSW	1	191,089,998 (GRCm39)	missense	probably damaging	1.00
R7485:Ppp2r5a	UTSW	1	191,128,532 (GRCm39)	missense	probably benign	0.07
R7545:Ppp2r5a	UTSW	1	191,104,806 (GRCm39)	missense	probably benign	0.00
R8934:Ppp2r5a	UTSW	1	191,100,835 (GRCm39)	splice site	probably benign
R9166:Ppp2r5a	UTSW	1	191,128,504 (GRCm39)	missense	probably benign	0.26
V5622:Ppp2r5a	UTSW	1	191,091,198 (GRCm39)	missense	probably benign	0.12
V5622:Ppp2r5a	UTSW	1	191,091,189 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACGCCTCAGATCTTTGCAC -3'
(R):5'- CAGCCTAGTGTAAATCCTTGTACG -3'

Sequencing Primer
(F):5'- AGGAATAGAAATCTAGAGGCTTACC -3'
(R):5'- CGAAAATATTACAGCTGCCTGG -3'

Posted On

2017-12-01