Mutagenetix > Incidental Mutation

Incidental Mutation 'R9144:Ppp2r5e'

694512

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

068935-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9144 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

75497655-75643019 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 75506468 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 433 (R433H)

Ref Sequence

ENSEMBL: ENSMUSP00000021447 (fasta)

Gene Model

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

AlphaFold

Q61151

Predicted Effect

possibly damaging
Transcript: ENSMUST00000021447
AA Change: R433H

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000021447
Gene: ENSMUSG00000021051
AA Change: R433H

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

possibly damaging
Transcript: ENSMUST00000220035
AA Change: R399H

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg4	C	T	9: 44,192,708 (GRCm39)	V176M	possibly damaging	Het
Acp5	T	C	9: 22,041,242 (GRCm39)	T62A	probably benign	Het
Alad	A	T	4: 62,430,257 (GRCm39)	D88E	probably damaging	Het
Arap1	T	C	7: 101,047,602 (GRCm39)	I803T	probably damaging	Het
Bckdhb	C	A	9: 83,894,662 (GRCm39)	T312K	probably damaging	Het
Cfap206	A	G	4: 34,722,667 (GRCm39)	V138A	possibly damaging	Het
Cntnap5b	A	G	1: 99,978,512 (GRCm39)	Y176C	probably damaging	Het
Creld1	A	T	6: 113,461,468 (GRCm39)	T63S	probably damaging	Het
Dsc1	G	A	18: 20,218,639 (GRCm39)	T878I	possibly damaging	Het
Ehbp1	C	T	11: 22,018,463 (GRCm39)	R873H	probably damaging	Het
Eml2	T	C	7: 18,935,564 (GRCm39)	V466A	possibly damaging	Het
Ercc5	T	A	1: 44,213,511 (GRCm39)	Y836N	probably damaging	Het
Fgf20	T	C	8: 40,732,958 (GRCm39)	D160G		Het
Fgfr4	A	T	13: 55,315,837 (GRCm39)		probably null	Het
Fpr1	A	T	17: 18,097,626 (GRCm39)	V121D	probably damaging	Het
Gabbr1	A	G	17: 37,362,049 (GRCm39)	K218E	probably benign	Het
Galnt12	T	C	4: 47,113,822 (GRCm39)	L372P		Het
Gldc	A	G	19: 30,114,593 (GRCm39)	F439S		Het
Gm6465	A	G	5: 11,896,726 (GRCm39)	T32A	possibly damaging	Het
Has2	T	C	15: 56,545,588 (GRCm39)	R5G	probably benign	Het
Hexb	T	C	13: 97,317,599 (GRCm39)	Y366C	probably damaging	Het
Ier2	C	T	8: 85,389,266 (GRCm39)	V39I	probably benign	Het
Ifi214	A	G	1: 173,355,434 (GRCm39)	S125P	possibly damaging	Het
Kcnk15	A	G	2: 163,700,451 (GRCm39)	D230G	probably benign	Het
Kdm3b	A	T	18: 34,927,558 (GRCm39)	Y140F	probably benign	Het
Klk1b11	T	C	7: 43,427,055 (GRCm39)	V140A	probably damaging	Het
Klra5	C	T	6: 129,886,911 (GRCm39)	C39Y	probably benign	Het
Ltbp2	T	C	12: 84,856,426 (GRCm39)	I699M	probably damaging	Het
Mak	C	A	13: 41,201,594 (GRCm39)	E256*	probably null	Het
Mark3	C	A	12: 111,606,376 (GRCm39)	N496K	probably benign	Het
Mex3c	A	G	18: 73,723,397 (GRCm39)	T497A	probably benign	Het
Myt1	A	G	2: 181,467,805 (GRCm39)	I1160V	possibly damaging	Het
Notch1	T	C	2: 26,349,587 (GRCm39)	T2518A	probably benign	Het
Nsg1	A	G	5: 38,302,088 (GRCm39)	Y108H	probably benign	Het
Nxt2	C	T	X: 141,020,747 (GRCm39)	A118V	possibly damaging	Het
Obscn	A	G	11: 58,960,103 (GRCm39)	S3255P	possibly damaging	Het
Or5w18	A	G	2: 87,633,482 (GRCm39)	T246A	probably benign	Het
Plxna4	A	G	6: 32,162,496 (GRCm39)	V1339A	possibly damaging	Het
Pwwp2a	T	A	11: 43,596,721 (GRCm39)	C629S	probably benign	Het
Rasl10a	T	A	11: 5,008,473 (GRCm39)	S56R	probably benign	Het
Rhob	A	G	12: 8,549,124 (GRCm39)	V170A	probably damaging	Het
Rlf	A	T	4: 121,003,900 (GRCm39)	N1803K	probably benign	Het
Rmdn3	G	T	2: 118,969,847 (GRCm39)	Q405K	probably benign	Het
Rpap3	G	A	15: 97,589,184 (GRCm39)	T250M	possibly damaging	Het
Rraga	T	C	4: 86,494,796 (GRCm39)	I214T	probably damaging	Het
Rundc3a	A	T	11: 102,290,862 (GRCm39)	Q315L	probably benign	Het
Sh3bgr	T	A	16: 96,001,931 (GRCm39)	S10T	probably benign	Het
Skint6	A	T	4: 112,985,102 (GRCm39)	S421R	possibly damaging	Het
Spag16	G	C	1: 70,420,459 (GRCm39)	L482F	probably damaging	Het
Sppl2a	A	G	2: 126,769,743 (GRCm39)	S38P	probably benign	Het
Tex14	T	A	11: 87,413,423 (GRCm39)		probably null	Het
Tmem181a	G	A	17: 6,346,048 (GRCm39)	V181M	possibly damaging	Het
Traf3	T	A	12: 111,228,294 (GRCm39)	S502T	probably benign	Het
Trav9n-4	T	G	14: 53,532,236 (GRCm39)	V30G	probably damaging	Het
Trpm2	C	A	10: 77,765,122 (GRCm39)	V960L	probably benign	Het
Unc13b	T	A	4: 43,173,649 (GRCm39)	D1492E	unknown	Het
Usp44	A	G	10: 93,681,645 (GRCm39)	T32A	probably benign	Het
Vmn1r38	A	G	6: 66,753,612 (GRCm39)	M168T	probably benign	Het
Vmn1r9	A	G	6: 57,048,788 (GRCm39)	I288V	probably benign	Het
Zfhx3	A	G	8: 109,676,794 (GRCm39)	T2615A	possibly damaging	Het

Other mutations in Ppp2r5e

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02602:Ppp2r5e	APN	12	75,540,213 (GRCm39)	missense	probably damaging	1.00
IGL03398:Ppp2r5e	APN	12	75,509,179 (GRCm39)	missense	possibly damaging	0.73
IGL03402:Ppp2r5e	APN	12	75,511,667 (GRCm39)	missense	probably damaging	0.99
R0129:Ppp2r5e	UTSW	12	75,509,164 (GRCm39)	missense	probably damaging	1.00
R0466:Ppp2r5e	UTSW	12	75,509,216 (GRCm39)	splice site	probably benign
R0894:Ppp2r5e	UTSW	12	75,516,341 (GRCm39)	missense	probably damaging	1.00
R1452:Ppp2r5e	UTSW	12	75,516,310 (GRCm39)	splice site	probably benign
R1551:Ppp2r5e	UTSW	12	75,516,341 (GRCm39)	missense	probably damaging	1.00
R1614:Ppp2r5e	UTSW	12	75,516,341 (GRCm39)	missense	probably damaging	1.00
R1693:Ppp2r5e	UTSW	12	75,516,341 (GRCm39)	missense	probably damaging	1.00
R1844:Ppp2r5e	UTSW	12	75,516,540 (GRCm39)	missense	possibly damaging	0.81
R1864:Ppp2r5e	UTSW	12	75,516,341 (GRCm39)	missense	probably damaging	1.00
R1908:Ppp2r5e	UTSW	12	75,516,341 (GRCm39)	missense	probably damaging	1.00
R1909:Ppp2r5e	UTSW	12	75,516,341 (GRCm39)	missense	probably damaging	1.00
R1933:Ppp2r5e	UTSW	12	75,516,341 (GRCm39)	missense	probably damaging	1.00
R2181:Ppp2r5e	UTSW	12	75,509,098 (GRCm39)	missense	probably benign	0.08
R3084:Ppp2r5e	UTSW	12	75,515,390 (GRCm39)	missense	probably benign	0.23
R4212:Ppp2r5e	UTSW	12	75,516,325 (GRCm39)	missense	probably damaging	1.00
R4213:Ppp2r5e	UTSW	12	75,516,325 (GRCm39)	missense	probably damaging	1.00
R4680:Ppp2r5e	UTSW	12	75,516,533 (GRCm39)	missense	probably damaging	1.00
R4761:Ppp2r5e	UTSW	12	75,640,035 (GRCm39)	missense	possibly damaging	0.92
R5147:Ppp2r5e	UTSW	12	75,516,544 (GRCm39)	missense	probably damaging	0.96
R5262:Ppp2r5e	UTSW	12	75,640,045 (GRCm39)	missense	probably damaging	1.00
R5304:Ppp2r5e	UTSW	12	75,562,459 (GRCm39)	missense	possibly damaging	0.75
R5429:Ppp2r5e	UTSW	12	75,500,537 (GRCm39)	missense	probably damaging	0.99
R5439:Ppp2r5e	UTSW	12	75,540,250 (GRCm39)	missense	probably benign
R7225:Ppp2r5e	UTSW	12	75,515,353 (GRCm39)	missense	probably damaging	0.96
R7453:Ppp2r5e	UTSW	12	75,509,116 (GRCm39)	missense	probably damaging	0.99
R7558:Ppp2r5e	UTSW	12	75,511,766 (GRCm39)	missense	probably damaging	1.00
R8017:Ppp2r5e	UTSW	12	75,511,703 (GRCm39)	missense	probably damaging	1.00
R8019:Ppp2r5e	UTSW	12	75,511,703 (GRCm39)	missense	probably damaging	1.00
R8902:Ppp2r5e	UTSW	12	75,500,570 (GRCm39)	missense	probably benign	0.19
R8969:Ppp2r5e	UTSW	12	75,500,492 (GRCm39)	missense	possibly damaging	0.72
R9228:Ppp2r5e	UTSW	12	75,640,063 (GRCm39)	nonsense	probably null
R9524:Ppp2r5e	UTSW	12	75,509,167 (GRCm39)	missense	possibly damaging	0.66
R9572:Ppp2r5e	UTSW	12	75,562,468 (GRCm39)	missense	probably benign	0.06

Predicted Primers

PCR Primer
(F):5'- AAGGTAGCAGGCTTCATCAAAAC -3'
(R):5'- TTTGTGCACTAGAGGAGGCC -3'

Sequencing Primer
(F):5'- GTAGCAGGCTTCATCAAAACCACAC -3'
(R):5'- CACTAGAGGAGGCCTGACTCATG -3'

Posted On

2022-01-20