Mutagenetix > Incidental Mutation

Incidental Mutation 'R1400:Ppm1e'

160336

Institutional Source

Beutler Lab

Gene Symbol

Ppm1e

Ensembl Gene

ENSMUSG00000046442

Gene Name

protein phosphatase 1E (PP2C domain containing)

Synonyms

PP2CH, POPX1, B930008A12Rik

MMRRC Submission

039462-MU

Accession Numbers

Essential gene?

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

Stock #

R1400 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

87117732-87249849 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 87122592 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 455 (N455I)

Ref Sequence

ENSEMBL: ENSMUSP00000061278 (fasta)

Gene Model

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

AlphaFold

Q80TL0

Predicted Effect

probably damaging
Transcript: ENSMUST00000055438
AA Change: N455I

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000061278
Gene: ENSMUSG00000046442
AA Change: N455I

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

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.3%
20x: 89.8%

Validation Efficiency

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130008F23Rik	T	C	17: 41,191,195 (GRCm39)	E78G	probably damaging	Het
Acsf2	T	C	11: 94,461,142 (GRCm39)	I345V	probably benign	Het
Akap11	T	A	14: 78,751,402 (GRCm39)	K328N	probably damaging	Het
Aoc1	T	A	6: 48,883,217 (GRCm39)	Y364*	probably null	Het
Aoc1	A	T	6: 48,883,645 (GRCm39)	Q507L	probably benign	Het
Atp6v1c2	T	C	12: 17,339,131 (GRCm39)	T207A	probably benign	Het
Atr	C	A	9: 95,744,901 (GRCm39)	Q73K	probably benign	Het
Cage1	A	G	13: 38,216,400 (GRCm39)	S17P	possibly damaging	Het
Cfap44	A	T	16: 44,241,575 (GRCm39)	I649F	probably benign	Het
Cops4	A	G	5: 100,681,412 (GRCm39)	K200R	probably damaging	Het
Crygd	A	G	1: 65,102,367 (GRCm39)	S32P	probably damaging	Het
Cyp3a11	A	G	5: 145,799,299 (GRCm39)	I296T	probably damaging	Het
Fads3	A	G	19: 10,033,664 (GRCm39)		probably null	Het
Fbn2	T	C	18: 58,213,265 (GRCm39)	E974G	possibly damaging	Het
Gcgr	A	G	11: 120,425,812 (GRCm39)	H45R	probably benign	Het
Gcn1	T	C	5: 115,752,220 (GRCm39)	I2112T	probably damaging	Het
Gm43302	A	T	5: 105,422,622 (GRCm39)	I470N	probably damaging	Het
Hoxa13	C	G	6: 52,260,647 (GRCm38)		probably benign	Het
Hoxa13	G	C	6: 52,260,648 (GRCm38)		probably benign	Het
Hsh2d	G	A	8: 72,954,304 (GRCm39)	D229N	probably benign	Het
Krt13	C	A	11: 100,012,110 (GRCm39)	G71V	probably damaging	Het
Las1l	T	C	X: 94,990,506 (GRCm39)	T390A	possibly damaging	Het
Lifr	T	A	15: 7,220,346 (GRCm39)	V992E	probably benign	Het
Mbd5	T	C	2: 49,164,788 (GRCm39)		probably null	Het
Mzf1	C	A	7: 12,786,698 (GRCm39)	R124L	possibly damaging	Het
Ndst3	A	G	3: 123,350,477 (GRCm39)	F636S	probably damaging	Het
Necab1	T	C	4: 14,975,185 (GRCm39)	D232G	possibly damaging	Het
Nlrp4e	A	T	7: 23,021,085 (GRCm39)	E524V	possibly damaging	Het
Nxf3	T	A	X: 134,976,794 (GRCm39)	T349S	probably benign	Het
Ofcc1	C	T	13: 40,362,305 (GRCm39)	G206R	probably benign	Het
Or4c12	T	A	2: 89,773,886 (GRCm39)	H191L	possibly damaging	Het
Or4n5	A	T	14: 50,133,148 (GRCm39)	I37K	possibly damaging	Het
Or7g29	A	G	9: 19,286,358 (GRCm39)	V273A	probably damaging	Het
Or9g19	T	C	2: 85,600,477 (GRCm39)	C111R	possibly damaging	Het
Plscr1l1	G	T	9: 92,233,180 (GRCm39)	C25F	probably benign	Het
Prkag2	G	A	5: 25,078,916 (GRCm39)	T158I	probably damaging	Het
Ptpn18	T	C	1: 34,502,587 (GRCm39)		probably null	Het
Rai14	T	G	15: 10,571,634 (GRCm39)	K936N	probably damaging	Het
Rasgrf2	A	G	13: 92,035,808 (GRCm39)	L1077P	probably damaging	Het
Rgn	C	A	X: 20,416,696 (GRCm39)	Q27K	probably benign	Het
Ryr2	C	T	13: 11,609,962 (GRCm39)	S723N	probably benign	Het
Scamp1	A	G	13: 94,361,455 (GRCm39)	F142L	possibly damaging	Het
Selenon	A	G	4: 134,278,829 (GRCm39)	V67A	probably benign	Het
Slc5a5	T	C	8: 71,342,079 (GRCm39)	I292V	possibly damaging	Het
Smarca2	C	A	19: 26,654,140 (GRCm39)	T775K	probably damaging	Het
Stab1	C	T	14: 30,861,787 (GRCm39)	V2437I	possibly damaging	Het
Tas2r143	C	T	6: 42,377,317 (GRCm39)	A49V	probably benign	Het
Tlr7	T	A	X: 166,090,845 (GRCm39)	N214Y	probably damaging	Het
Unc13a	C	A	8: 72,103,865 (GRCm39)	D856Y	probably damaging	Het
Upp2	T	C	2: 58,680,118 (GRCm39)	Y263H	probably damaging	Het
Vill	T	C	9: 118,892,415 (GRCm39)	S349P	probably benign	Het
Zfp644	T	C	5: 106,785,336 (GRCm39)		probably null	Het
Zfp664	T	C	5: 124,963,217 (GRCm39)	C204R	unknown	Het
Zfp729b	A	G	13: 67,740,913 (GRCm39)	Y451H	possibly damaging	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
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
R5250:Ppm1e	UTSW	11	87,121,744 (GRCm39)	missense	probably benign	0.22
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'- GAATGAATCCACTCGCCCCTCATAG -3'
(R):5'- TGCTGAGCACAAGCCGTATATCTG -3'

Sequencing Primer
(F):5'- CTCATAGCCTAGATCGGCG -3'
(R):5'- TATATCTGTGGAGACGCAGACTC -3'

Posted On

2014-03-14