Mutagenetix > Incidental Mutation

Incidental Mutation 'R0118:Ppm1e'

20941

Institutional Source

Beutler Lab

Gene Symbol

Ppm1e

Ensembl Gene

ENSMUSG00000046442

Gene Name

protein phosphatase 1E (PP2C domain containing)

Synonyms

PP2CH, POPX1, B930008A12Rik

MMRRC Submission

038404-MU

Accession Numbers

Essential gene?

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

Stock #

R0118 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

87117732-87249849 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 87122564 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 464 (K464N)

Ref Sequence

ENSEMBL: ENSMUSP00000061278 (fasta)

Gene Model

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

AlphaFold

Q80TL0

Predicted Effect

probably benign
Transcript: ENSMUST00000055438
AA Change: K464N

PolyPhen 2 Score 0.193 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000061278
Gene: ENSMUSG00000046442
AA Change: K464N

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

0.0993

Coding Region Coverage

1x: 98.8%
3x: 97.2%
10x: 89.3%
20x: 67.4%

Validation Efficiency

98% (50/51)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts15	T	C	9: 30,823,040 (GRCm39)	R343G	probably damaging	Het
Asxl2	T	G	12: 3,546,923 (GRCm39)	V569G	probably damaging	Het
Azin2	A	C	4: 128,843,430 (GRCm39)	H85Q	probably damaging	Het
Cacna1a	C	T	8: 85,262,712 (GRCm39)	R324C	probably damaging	Het
Ccr3	C	A	9: 123,829,647 (GRCm39)	Y327*	probably null	Het
Cers2	T	C	3: 95,227,537 (GRCm39)	F55S	probably benign	Het
Cic	C	T	7: 24,985,459 (GRCm39)	S301L	probably damaging	Het
Cntnap2	T	C	6: 45,037,326 (GRCm39)		probably null	Het
Cpn2	T	C	16: 30,079,186 (GRCm39)	R172G	probably benign	Het
Ctdnep1	T	C	11: 69,879,557 (GRCm39)		probably null	Het
Dennd3	T	A	15: 73,436,925 (GRCm39)	Y1051N	probably damaging	Het
Dmap1	T	G	4: 117,533,680 (GRCm39)	Y196S	probably damaging	Het
Entpd7	G	A	19: 43,692,751 (GRCm39)	W102*	probably null	Het
Frem2	A	T	3: 53,442,664 (GRCm39)	C2624*	probably null	Het
Gdpd3	A	G	7: 126,370,165 (GRCm39)	Y238C	probably damaging	Het
Gjb3	A	G	4: 127,220,451 (GRCm39)	V27A	probably damaging	Het
Kat6b	T	C	14: 21,720,042 (GRCm39)	F1465L	probably damaging	Het
Klra17	A	T	6: 129,808,552 (GRCm39)	M227K	probably benign	Het
Map6	A	G	7: 98,966,824 (GRCm39)	D348G	possibly damaging	Het
Mapkbp1	T	C	2: 119,855,696 (GRCm39)	S1472P	probably benign	Het
Megf6	C	A	4: 154,339,098 (GRCm39)	P545Q	probably damaging	Het
Mertk	C	T	2: 128,601,086 (GRCm39)	R357W	probably damaging	Het
Mesd	T	A	7: 83,544,835 (GRCm39)	I104N	probably damaging	Het
Mrm3	T	A	11: 76,140,781 (GRCm39)	V263E	possibly damaging	Het
Ndst4	T	A	3: 125,405,210 (GRCm39)	Y488*	probably null	Het
Nfat5	C	T	8: 108,065,707 (GRCm39)	R156W	probably damaging	Het
Nfs1	T	C	2: 155,976,444 (GRCm39)	H150R	probably damaging	Het
Odad3	A	T	9: 21,906,353 (GRCm39)	N224K	probably benign	Het
Or1n1b	A	G	2: 36,780,035 (GRCm39)	M275T	probably benign	Het
Or8b56	T	C	9: 38,739,154 (GRCm39)	S50P	possibly damaging	Het
Or8g19	T	A	9: 39,055,399 (GRCm39)	M1K	probably null	Het
Or9q1	A	G	19: 13,804,929 (GRCm39)	F277S	possibly damaging	Het
Pcdh8	T	C	14: 80,004,848 (GRCm39)	Y1059C	probably damaging	Het
Pik3r5	T	A	11: 68,381,306 (GRCm39)	L164Q	probably damaging	Het
Polr3g	T	C	13: 81,824,240 (GRCm39)		probably benign	Het
Rims1	T	C	1: 22,416,631 (GRCm39)	T1037A	probably damaging	Het
Rpgrip1l	A	T	8: 91,996,750 (GRCm39)	I108N	probably damaging	Het
Sfi1	CCTCTC	CCTCTCTC	11: 3,127,419 (GRCm39)		probably benign	Het
Spem1	T	C	11: 69,712,371 (GRCm39)	K98E	possibly damaging	Het
St7l	T	C	3: 104,796,619 (GRCm39)	V237A	probably damaging	Het
Tbc1d16	T	C	11: 119,048,642 (GRCm39)	H337R	probably damaging	Het
Tbc1d32	T	A	10: 55,893,701 (GRCm39)	I1291F	probably benign	Het
Tnfaip6	G	T	2: 51,933,827 (GRCm39)	E61*	probably null	Het
Trib2	A	T	12: 15,843,929 (GRCm39)	W102R	probably damaging	Het
Uimc1	G	T	13: 55,233,457 (GRCm39)	N66K	probably damaging	Het
Vmn1r63	T	A	7: 5,805,838 (GRCm39)	T265S	probably benign	Het
Vps35	G	A	8: 86,021,582 (GRCm39)	T3I	probably benign	Het
Yeats2	T	A	16: 19,975,692 (GRCm39)	L63*	probably null	Het
Zfp282	A	G	6: 47,869,866 (GRCm39)	R304G	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
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
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'- TCAGTGAATGAATCCACTCGCCCC -3'
(R):5'- TCGGCCTCCACTGTTTTGGATG -3'

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

Posted On

2013-04-11