Mutagenetix > Incidental Mutation

Incidental Mutation 'R8934:Ppp2r5a'

711104

Institutional Source

Beutler Lab

Gene Symbol

Ppp2r5a

Ensembl Gene

ENSMUSG00000026626

Gene Name

protein phosphatase 2, regulatory subunit B', alpha

Synonyms

MMRRC Submission

068777-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.238) question?

Stock #

R8934 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

191084178-191129238 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 191100835 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

AlphaFold

Q6PD03

Predicted Effect

probably benign
Transcript: ENSMUST00000067976

SMART Domains

Protein: ENSMUSP00000070726
Gene: ENSMUSG00000026626

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (55/55)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	G	A	14: 32,382,614 (GRCm39)	S1117L	possibly damaging	Het
Abce1	A	G	8: 80,429,661 (GRCm39)	Y87H	probably damaging	Het
Adad2	G	A	8: 120,341,535 (GRCm39)		probably benign	Het
Adamts12	A	G	15: 11,300,015 (GRCm39)	T901A	probably damaging	Het
Adamts18	T	A	8: 114,463,510 (GRCm39)	I779F	possibly damaging	Het
Bod1l	T	C	5: 41,976,944 (GRCm39)	T1457A	probably benign	Het
Brat1	T	C	5: 140,696,004 (GRCm39)	V125A	probably benign	Het
C4b	G	A	17: 34,951,958 (GRCm39)	R1296C	possibly damaging	Het
C5ar1	A	T	7: 15,982,402 (GRCm39)	L206Q	probably damaging	Het
Cfap126	A	G	1: 170,953,690 (GRCm39)	T87A	probably benign	Het
Cnot1	A	T	8: 96,491,695 (GRCm39)	N376K	probably benign	Het
Cyp3a44	A	T	5: 145,731,786 (GRCm39)	I120K	possibly damaging	Het
Ddx17	T	C	15: 79,420,217 (GRCm39)	E384G	possibly damaging	Het
Dipk1b	G	A	2: 26,524,866 (GRCm39)	V89M	possibly damaging	Het
Dnah14	T	C	1: 181,450,288 (GRCm39)	S634P	possibly damaging	Het
Dusp16	A	T	6: 134,718,639 (GRCm39)		probably benign	Het
Eml2	G	A	7: 18,913,738 (GRCm39)	R185H	probably damaging	Het
Epdr1	T	C	13: 19,777,350 (GRCm39)	E216G	possibly damaging	Het
Erv3	T	C	2: 131,698,101 (GRCm39)	H86R	probably benign	Het
Gm5114	A	G	7: 39,060,553 (GRCm39)	W99R	probably benign	Het
Grid1	G	A	14: 35,043,664 (GRCm39)	D340N	probably damaging	Het
Hjv	T	G	3: 96,433,909 (GRCm39)	C27G	probably damaging	Het
Ifrd2	T	C	9: 107,469,469 (GRCm39)		probably benign	Het
Ikbkb	T	C	8: 23,150,407 (GRCm39)	*758W	probably null	Het
Il1rap	T	C	16: 26,495,734 (GRCm39)	C114R	probably damaging	Het
Irf6	T	C	1: 192,845,033 (GRCm39)	I168T	probably benign	Het
Kmt2d	T	C	15: 98,759,767 (GRCm39)	I1164V	unknown	Het
Lamb3	T	C	1: 193,021,168 (GRCm39)	L915P	probably damaging	Het
Lca5	T	C	9: 83,273,909 (GRCm39)		probably benign	Het
Lhx3	C	A	2: 26,092,258 (GRCm39)	R211L	probably damaging	Het
Mettl8	T	C	2: 70,882,062 (GRCm39)		probably benign	Het
Mroh1	T	C	15: 76,334,386 (GRCm39)	S1297P	probably benign	Het
Myh14	T	A	7: 44,306,852 (GRCm39)	T232S	probably benign	Het
Nemp2	T	A	1: 52,688,868 (GRCm39)	F377L	probably damaging	Het
Obscn	A	G	11: 58,889,085 (GRCm39)		probably null	Het
Or4b1b	T	A	2: 90,112,356 (GRCm39)	T188S	probably benign	Het
Or51ah3	T	C	7: 103,210,290 (GRCm39)	V202A	probably benign	Het
Pgbd5	A	C	8: 125,110,998 (GRCm39)	V231G	possibly damaging	Het
Pitrm1	T	C	13: 6,606,666 (GRCm39)	L240P	probably benign	Het
Pkhd1	A	G	1: 20,462,234 (GRCm39)		probably null	Het
Pramel31	C	T	4: 144,090,345 (GRCm39)	L462F	possibly damaging	Het
Prss30	C	T	17: 24,192,628 (GRCm39)	C147Y	probably damaging	Het
Ptpru	C	T	4: 131,546,297 (GRCm39)	V318M	probably damaging	Het
Rpap1	C	T	2: 119,599,730 (GRCm39)		probably null	Het
Rptn	A	G	3: 93,303,219 (GRCm39)	Q184R	probably benign	Het
Rufy1	T	A	11: 50,298,705 (GRCm39)	Q362L	probably benign	Het
Rundc1	A	G	11: 101,322,327 (GRCm39)	K274E	probably damaging	Het
Shroom3	T	A	5: 93,089,584 (GRCm39)	I778K	probably damaging	Het
Slamf6	C	T	1: 171,745,338 (GRCm39)	L22F	possibly damaging	Het
St7l	A	G	3: 104,796,634 (GRCm39)	E249G	probably damaging	Het
Tmem237	T	C	1: 59,153,338 (GRCm39)	N61S	probably benign	Het
Tyk2	T	C	9: 21,038,416 (GRCm39)		probably benign	Het
Ubtf	G	T	11: 102,204,855 (GRCm39)	P115T	probably damaging	Het
Vmn2r70	T	A	7: 85,211,188 (GRCm39)	I508F	possibly damaging	Het
Zfp609	C	T	9: 65,610,561 (GRCm39)	A801T	possibly damaging	Het
Zfp663	A	T	2: 165,194,714 (GRCm39)	C502S	probably 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
R5769:Ppp2r5a	UTSW	1	191,104,863 (GRCm39)	missense	probably benign	0.02
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
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'- CTTACCATGCAACTGAAACTGG -3'
(R):5'- ACGTATCCCTTTATGTCTTGAAGAG -3'

Sequencing Primer
(F):5'- CCATGCAACTGAAACTGGTTTTG -3'
(R):5'- TGCTAACATCTTCCGGAC -3'

Posted On

2022-04-27