Mutagenetix > Incidental Mutations

Incidental Mutation 'R7225:Ppp2r5e'

562111

Institutional Source

Beutler Lab

Gene Symbol

Ppp2r5e

Ensembl Gene

ENSMUSG00000021051

Gene Name

protein phosphatase 2, regulatory subunit B', epsilon

Synonyms

B56beta, protein phosphatase 2A subunit beta, 4633401M22Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7225 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

75450881-75596245 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 75468579 bp

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 261 (K261R)

Ref Sequence

ENSEMBL: ENSMUSP00000021447 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021447] [ENSMUST00000218012] [ENSMUST00000220035]

Predicted Effect

probably damaging
Transcript: ENSMUST00000021447
AA Change: K261R

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000021447
Gene: ENSMUSG00000021051
AA Change: K261R

Domain	Start	End	E-Value	Type
low complexity region	18	41	N/A	INTRINSIC
Pfam:B56	48	453	3.2e-195	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000218012

Predicted Effect

probably damaging
Transcript: ENSMUST00000220035
AA Change: K227R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

98% (62/63)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by 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 epsilon isoform of the regulatory subunit B56 subfamily. Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Aug 2013]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001K19Rik	T	C	12: 110,670,865		probably benign	Het
5430403G16Rik	T	C	5: 109,677,149	H145R	possibly damaging	Het
5730480H06Rik	T	A	5: 48,380,233		probably null	Het
Actn4	A	T	7: 28,898,699	V492D	probably damaging	Het
Alpk2	T	C	18: 65,305,199	E1041G	probably benign	Het
Asap1	G	A	15: 64,130,250	T404M	probably damaging	Het
Cd22	C	T	7: 30,877,634	A83T	not run	Het
Cdan1	T	C	2: 120,724,912	T783A	probably benign	Het
Cdh9	C	T	15: 16,856,073	S733F	probably damaging	Het
Cfap54	A	G	10: 92,904,374	F2282S	unknown	Het
Chst9	T	C	18: 15,452,661	K282E	probably damaging	Het
Clcn1	G	A	6: 42,293,462	D232N	probably damaging	Het
Clpb	T	A	7: 101,711,465	L234Q	probably damaging	Het
Cluh	T	G	11: 74,666,406		probably null	Het
Cnp	C	T	11: 100,580,587	Q352*	probably null	Het
Cyfip1	AGTGT	AGT	7: 55,928,189		probably null	Het
Dtx3	C	T	10: 127,191,489	C272Y	probably damaging	Het
Dync2h1	A	G	9: 7,142,756	I1156T	probably benign	Het
Epg5	T	A	18: 78,012,702	V1697E	probably benign	Het
Exoc3l4	A	G	12: 111,423,624	D211G	probably benign	Het
Fank1	A	G	7: 133,853,259	K36R	probably benign	Het
Fat4	T	C	3: 38,980,176	I2659T	possibly damaging	Het
Fer1l5	T	C	1: 36,420,952	W1893R	possibly damaging	Het
Gorasp2	T	A	2: 70,684,047	L256Q	probably damaging	Het
Gpc5	T	G	14: 115,552,298	V528G	probably damaging	Het
Gria2	T	A	3: 80,802,631		probably benign	Het
Htatip2	A	G	7: 49,770,856	E150G	possibly damaging	Het
Jak3	C	A	8: 71,685,511	Q869K	probably benign	Het
Jmjd1c	T	C	10: 67,226,065	V1218A	probably benign	Het
Kcnf1	A	G	12: 17,175,693	C176R	possibly damaging	Het
Kcnq4	A	G	4: 120,746,914	V88A	probably benign	Het
Lmod3	T	A	6: 97,247,384	D492V	probably benign	Het
Lurap1l	A	C	4: 80,911,481	S43R	probably benign	Het
Mamdc4	T	C	2: 25,565,546	H890R	possibly damaging	Het
Mertk	T	G	2: 128,801,562	N960K	possibly damaging	Het
Nudt9	C	A	5: 104,065,100	D346E	probably benign	Het
Olfr1434	A	T	19: 12,283,467	T140S	probably benign	Het
Opa1	A	G	16: 29,614,039		probably null	Het
Oxr1	C	T	15: 41,813,608	P187L	not run	Het
Paxbp1	T	C	16: 91,027,068	E564G	probably damaging	Het
Pcdhb13	C	T	18: 37,444,437	R623C	possibly damaging	Het
Pkhd1l1	G	T	15: 44,546,941	V2615F	probably damaging	Het
Plin3	T	C	17: 56,286,541	T58A	possibly damaging	Het
Por	A	G	5: 135,732,587	D309G	probably benign	Het
Ptpn18	C	T	1: 34,472,846	T366I	possibly damaging	Het
Ptprz1	G	A	6: 23,000,929	G1006E	possibly damaging	Het
Rnf219	T	C	14: 104,479,858	T360A	probably benign	Het
Rpl12	C	T	2: 32,961,897		probably benign	Het
Rpsa	T	G	9: 120,131,156	F262V	probably benign	Het
Sh3pxd2a	G	T	19: 47,267,389	N991K	probably damaging	Het
Shank2	T	A	7: 144,285,025	N19K	probably benign	Het
Sik1	T	C	17: 31,854,300	T61A	probably benign	Het
Sipa1l3	A	C	7: 29,399,428	V472G	probably damaging	Het
Sirt6	A	G	10: 81,622,481	S313P	probably benign	Het
Slc12a7	A	G	13: 73,763,962		probably benign	Het
Sox13	A	T	1: 133,387,124	V266E	probably benign	Het
Spag9	T	C	11: 94,097,358	C833R	probably damaging	Het
Tcof1	T	C	18: 60,828,448	T812A	unknown	Het
Tnfsf4	A	G	1: 161,417,250	D170G	possibly damaging	Het
Tshz3	A	G	7: 36,769,657	N357S	probably damaging	Het
Txk	C	T	5: 72,700,714	D418N	probably damaging	Het
Ube2j2	A	G	4: 155,949,316		probably null	Het
Vmn2r84	G	A	10: 130,386,683	P556L	probably damaging	Het
Zfp442	T	C	2: 150,409,005	N326D	probably benign	Het

Other mutations in Ppp2r5e

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02602:Ppp2r5e	APN	12	75493439	missense	probably damaging	1.00
IGL03398:Ppp2r5e	APN	12	75462405	missense	possibly damaging	0.73
IGL03402:Ppp2r5e	APN	12	75464893	missense	probably damaging	0.99
R0129:Ppp2r5e	UTSW	12	75462390	missense	probably damaging	1.00
R0466:Ppp2r5e	UTSW	12	75462442	splice site	probably benign
R0894:Ppp2r5e	UTSW	12	75469567	missense	probably damaging	1.00
R1452:Ppp2r5e	UTSW	12	75469536	splice site	probably benign
R1551:Ppp2r5e	UTSW	12	75469567	missense	probably damaging	1.00
R1614:Ppp2r5e	UTSW	12	75469567	missense	probably damaging	1.00
R1693:Ppp2r5e	UTSW	12	75469567	missense	probably damaging	1.00
R1844:Ppp2r5e	UTSW	12	75469766	missense	possibly damaging	0.81
R1864:Ppp2r5e	UTSW	12	75469567	missense	probably damaging	1.00
R1908:Ppp2r5e	UTSW	12	75469567	missense	probably damaging	1.00
R1909:Ppp2r5e	UTSW	12	75469567	missense	probably damaging	1.00
R1933:Ppp2r5e	UTSW	12	75469567	missense	probably damaging	1.00
R2181:Ppp2r5e	UTSW	12	75462324	missense	probably benign	0.08
R3084:Ppp2r5e	UTSW	12	75468616	missense	probably benign	0.23
R4212:Ppp2r5e	UTSW	12	75469551	missense	probably damaging	1.00
R4213:Ppp2r5e	UTSW	12	75469551	missense	probably damaging	1.00
R4680:Ppp2r5e	UTSW	12	75469759	missense	probably damaging	1.00
R4761:Ppp2r5e	UTSW	12	75593261	missense	possibly damaging	0.92
R5147:Ppp2r5e	UTSW	12	75469770	missense	probably damaging	0.96
R5262:Ppp2r5e	UTSW	12	75593271	missense	probably damaging	1.00
R5304:Ppp2r5e	UTSW	12	75515685	missense	possibly damaging	0.75
R5429:Ppp2r5e	UTSW	12	75453763	missense	probably damaging	0.99
R5439:Ppp2r5e	UTSW	12	75493476	missense	probably benign
R7453:Ppp2r5e	UTSW	12	75462342	missense	probably damaging	0.99
R7558:Ppp2r5e	UTSW	12	75464992	missense	probably damaging	1.00
R8017:Ppp2r5e	UTSW	12	75464929	missense	probably damaging	1.00
R8019:Ppp2r5e	UTSW	12	75464929	missense	probably damaging	1.00
R8902:Ppp2r5e	UTSW	12	75453796	missense	probably benign	0.19
R8969:Ppp2r5e	UTSW	12	75453718	missense	possibly damaging	0.72

Predicted Primers

PCR Primer
(F):5'- GGGGAACGACATACTTTCATACTTTTC -3'
(R):5'- GCACATCTGCCTGTTTGCTG -3'

Sequencing Primer
(F):5'- TAAAACTATGTGTGGCGGCTCAC -3'
(R):5'- CTGCCTAATAAGTGATCTCTGTTG -3'

Posted On

2019-06-26