Mutagenetix > Incidental Mutation

Incidental Mutation 'R5250:Ppm1e'

398963

Institutional Source

Beutler Lab

Gene Symbol

Ppm1e

Ensembl Gene

ENSMUSG00000046442

Gene Name

protein phosphatase 1E (PP2C domain containing)

Synonyms

PP2CH, POPX1, B930008A12Rik

MMRRC Submission

042821-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.315) question?

Stock #

R5250 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

87117732-87249849 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 87121744 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 738 (I738V)

Ref Sequence

ENSEMBL: ENSMUSP00000061278 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055438]

AlphaFold

Q80TL0

Predicted Effect

probably benign
Transcript: ENSMUST00000055438
AA Change: I738V

PolyPhen 2 Score 0.221 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000061278
Gene: ENSMUSG00000046442
AA Change: I738V

Domain	Start	End	E-Value	Type
low complexity region	20	65	N/A	INTRINSIC
low complexity region	70	106	N/A	INTRINSIC
low complexity region	111	128	N/A	INTRINSIC
PP2Cc	216	483	2.26e-71	SMART
PP2C_SIG	243	485	1.01e-2	SMART
low complexity region	506	515	N/A	INTRINSIC

Meta Mutation Damage Score

0.0601

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.4%

Validation Efficiency

100% (60/60)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the PPM family of serine/threonine-protein phosphatases. The encoded protein is localized to the nucleus and dephosphorylates and inactivates multiple substrates including serine/threonine-protein kinase PAK 1, 5'-AMP-activated protein kinase (AMPK) and the multifunctional calcium/calmodulin-dependent protein kinases. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, May 2012]

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl1	A	T	4: 86,135,182 (GRCm39)	K236*	probably null	Het
Adgre5	A	G	8: 84,460,069 (GRCm39)	V109A	probably benign	Het
Adora2a	T	C	10: 75,161,882 (GRCm39)	I7T	probably damaging	Het
Ankrd6	A	G	4: 32,860,335 (GRCm39)	V36A	probably damaging	Het
Arhgef2	T	C	3: 88,540,955 (GRCm39)		probably null	Het
Atg14	G	A	14: 47,805,656 (GRCm39)	R70C	probably damaging	Het
Atg2b	G	A	12: 105,602,024 (GRCm39)	R1651W	probably damaging	Het
Atp6v0a1	T	A	11: 100,933,870 (GRCm39)	V553D	possibly damaging	Het
Bard1	G	A	1: 71,113,722 (GRCm39)	L420F	probably damaging	Het
Bcat1	C	G	6: 144,993,165 (GRCm39)		probably null	Het
Bpifb5	A	T	2: 154,066,881 (GRCm39)	N45Y	probably benign	Het
Btbd17	G	T	11: 114,682,234 (GRCm39)		probably benign	Het
Ccdc24	T	C	4: 117,726,826 (GRCm39)	T296A	possibly damaging	Het
Col11a1	A	G	3: 114,010,819 (GRCm39)		probably benign	Het
Cspg4b	A	G	13: 113,456,305 (GRCm39)	N784D	possibly damaging	Het
Dhx38	A	T	8: 110,283,152 (GRCm39)	V555D	probably damaging	Het
Dixdc1	T	G	9: 50,595,035 (GRCm39)	E230A	possibly damaging	Het
Dnah7b	T	G	1: 46,412,514 (GRCm39)	V4041G	probably damaging	Het
Dnhd1	A	T	7: 105,334,968 (GRCm39)	I1021L	probably damaging	Het
Fgl2	A	G	5: 21,580,521 (GRCm39)	S288G	possibly damaging	Het
Flt4	T	A	11: 49,521,227 (GRCm39)	I412N	possibly damaging	Het
Gabrb1	A	G	5: 72,026,922 (GRCm39)	I141V	possibly damaging	Het
Gpc2	A	G	5: 138,277,230 (GRCm39)	Y66H	probably damaging	Het
Hoxd3	C	T	2: 74,574,650 (GRCm39)	Q99*	probably null	Het
Inpp5d	T	C	1: 87,637,397 (GRCm39)	V781A	probably damaging	Het
Larp4b	T	C	13: 9,221,013 (GRCm39)		probably benign	Het
Lrrfip1	T	A	1: 91,043,618 (GRCm39)	S674R	possibly damaging	Het
Megf6	A	G	4: 154,340,467 (GRCm39)	T561A	possibly damaging	Het
Mpo	A	T	11: 87,694,259 (GRCm39)	Q83L	probably benign	Het
Mucl2	T	C	15: 103,927,733 (GRCm39)	N75D	possibly damaging	Het
Myh13	C	T	11: 67,218,085 (GRCm39)	Q53*	probably null	Het
Myot	T	A	18: 44,479,137 (GRCm39)	D291E	probably damaging	Het
Nae1	A	G	8: 105,257,023 (GRCm39)		probably null	Het
Ncoa2	A	T	1: 13,294,913 (GRCm39)	S2R	probably damaging	Het
Nktr	T	A	9: 121,578,858 (GRCm39)		probably benign	Het
Nrxn1	A	G	17: 90,842,869 (GRCm39)		probably benign	Het
Or10aa3	T	G	1: 173,878,838 (GRCm39)	F300V	probably benign	Het
Or14j4	A	G	17: 37,920,851 (GRCm39)	S264P	probably damaging	Het
Or5an1b	T	C	19: 12,299,430 (GRCm39)	T254A	probably benign	Het
P2rx2	T	C	5: 110,489,454 (GRCm39)	E160G	probably damaging	Het
Pcdhga11	A	T	18: 37,890,990 (GRCm39)	D666V	probably damaging	Het
Pcm1	A	T	8: 41,765,242 (GRCm39)	E1484D	probably damaging	Het
Pdia4	C	T	6: 47,773,619 (GRCm39)	A577T	possibly damaging	Het
Potefam1	T	G	2: 111,058,422 (GRCm39)	T124P	possibly damaging	Het
Ppp1r13b	G	T	12: 111,811,394 (GRCm39)	R165S	probably benign	Het
Rasgrp2	T	C	19: 6,454,343 (GRCm39)	W129R	probably damaging	Het
Smurf2	A	G	11: 106,747,005 (GRCm39)		probably null	Het
Spmap1	C	A	11: 97,663,553 (GRCm39)	W99L	possibly damaging	Het
Ubr2	G	T	17: 47,241,368 (GRCm39)	Q1729K	probably benign	Het
Zfp260	T	A	7: 29,804,392 (GRCm39)	H97Q	probably damaging	Het
Zfp429	G	T	13: 67,538,638 (GRCm39)	R269S	probably benign	Het
Zfp568	T	C	7: 29,716,655 (GRCm39)	V185A	probably benign	Het

Other mutations in Ppm1e

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02332:Ppm1e	APN	11	87,122,568 (GRCm39)	missense	probably benign	0.09
IGL02973:Ppm1e	APN	11	87,131,488 (GRCm39)	missense	probably damaging	0.99
R0013:Ppm1e	UTSW	11	87,139,884 (GRCm39)	splice site	probably benign
R0013:Ppm1e	UTSW	11	87,139,884 (GRCm39)	splice site	probably benign
R0118:Ppm1e	UTSW	11	87,122,564 (GRCm39)	missense	probably benign	0.19
R0420:Ppm1e	UTSW	11	87,131,440 (GRCm39)	missense	probably damaging	0.98
R1400:Ppm1e	UTSW	11	87,122,592 (GRCm39)	missense	probably damaging	0.98
R1827:Ppm1e	UTSW	11	87,122,521 (GRCm39)	missense	probably damaging	1.00
R1912:Ppm1e	UTSW	11	87,135,196 (GRCm39)	missense	probably benign	0.00
R3778:Ppm1e	UTSW	11	87,139,754 (GRCm39)	splice site	probably null
R4632:Ppm1e	UTSW	11	87,122,356 (GRCm39)	missense	probably damaging	1.00
R5288:Ppm1e	UTSW	11	87,249,377 (GRCm39)	missense	possibly damaging	0.96
R5364:Ppm1e	UTSW	11	87,128,007 (GRCm39)	missense	probably benign	0.18
R5384:Ppm1e	UTSW	11	87,249,377 (GRCm39)	missense	possibly damaging	0.96
R5386:Ppm1e	UTSW	11	87,249,377 (GRCm39)	missense	possibly damaging	0.96
R5468:Ppm1e	UTSW	11	87,121,716 (GRCm39)	missense	probably benign	0.00
R8247:Ppm1e	UTSW	11	87,122,101 (GRCm39)	missense	probably benign	0.01
R9550:Ppm1e	UTSW	11	87,121,919 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AGTGAAACCGCCAATACTTTTG -3'
(R):5'- CAGCGTGGATTCAGGTTTAATCC -3'

Sequencing Primer
(F):5'- GTGAAACCGCCAATACTTTTGATTAG -3'
(R):5'- AATCCAAAGTTTTACTCGTTTCTGTC -3'

Posted On

2016-07-06