Mutagenetix > Incidental Mutations

Incidental Mutation 'R4864:Ppm1l'

374728

Institutional Source

Beutler Lab

Gene Symbol

Ppm1l

Ensembl Gene

ENSMUSG00000027784

Gene Name

protein phosphatase 1 (formerly 2C)-like

Synonyms

5930404J21Rik, Pp2ce, PP2C-epsilon

MMRRC Submission

042474-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.150) question?

Stock #

R4864 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

69316861-69560802 bp(+) (GRCm38)

Type of Mutation

intron

DNA Base Change (assembly)

T to A at 69542511 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000029355 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029355]

Predicted Effect

probably benign
Transcript: ENSMUST00000029355

SMART Domains

Protein: ENSMUSP00000029355
Gene: ENSMUSG00000027784

Domain	Start	End	E-Value	Type
PP2Cc	77	349	3.17e-75	SMART
PP2C_SIG	103	351	1.28e-4	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134037

SMART Domains

Protein: ENSMUSP00000120467
Gene: ENSMUSG00000027784

Domain	Start	End	E-Value	Type
PP2Cc	3	106	6.3e-2	SMART

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 93.8%

Validation Efficiency

99% (93/94)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a magnesium or manganese-requiring phosphatase that is involved in several signaling pathways. The encoded protein downregulates apoptosis signal-regulating kinase 1, a protein that initiates a signaling cascade that leads to apoptosis when cells are subjected to cytotoxic stresses. This protein also is an endoplasmic reticulum transmembrane protein that helps regulate ceramide transport from the endoplasmic reticulum to the Golgi apparatus. Finally, this gene may be involved in adiposity since it is upregulated in adipose tissues. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2015]
PHENOTYPE: Homozygotes for a null allele show increased body weight and total fat mass, higher blood pressure and plasma glucose levels, lower free fatty acid levels and improved glucose tolerance. Homozygotes for another null allele show postnatal lethality, motor deficits and altered forebrain morphology. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930578I06Rik	C	T	14: 63,973,209	R190H	probably benign	Het
Acp6	T	C	3: 97,159,367		probably null	Het
Adora3	T	A	3: 105,907,815	Y148N	probably damaging	Het
Ahnak2	G	A	12: 112,773,606	S538L	probably damaging	Het
Aox3	T	G	1: 58,176,487	V1026G	probably damaging	Het
Ap3d1	TTCTCTCTCTCTCTCTCT	TTCTCTCTCTCTCTCT	10: 80,712,778		probably null	Het
Arhgef37	G	A	18: 61,494,925	A649V	probably benign	Het
Atp5a1	G	A	18: 77,781,315	R413H	possibly damaging	Het
Bace1	A	T	9: 45,854,811	I179F	probably damaging	Het
Brinp1	A	G	4: 68,798,886	F242L	probably damaging	Het
Brk1	T	C	6: 113,615,844	Y63H	possibly damaging	Het
Ccdc74a	A	G	16: 17,648,872	T148A	probably benign	Het
Cenpc1	T	A	5: 86,045,321	L236F	probably damaging	Het
Col13a1	C	T	10: 61,862,660	E541K	unknown	Het
Copg1	T	A	6: 87,889,696	C44S	probably damaging	Het
D130043K22Rik	A	G	13: 24,863,612	E380G	probably damaging	Het
Dchs1	T	C	7: 105,755,253	D2694G	probably damaging	Het
Dgkd	A	T	1: 87,916,838	N242I	possibly damaging	Het
Dnah2	C	T	11: 69,422,590	V4248I	probably damaging	Het
Dpy19l3	T	A	7: 35,712,182	K376*	probably null	Het
Eef1d	A	G	15: 75,903,406	S135P	possibly damaging	Het
Epc2	T	A	2: 49,537,165	S574T	probably benign	Het
Eps15	G	A	4: 109,366,530		probably benign	Het
Eps8	T	C	6: 137,478,969		probably benign	Het
Exoc5	A	T	14: 49,052,382	V13E	probably benign	Het
Fbn1	A	T	2: 125,372,397	C765S	possibly damaging	Het
Fbxo5	A	T	10: 5,802,392	C74S	probably benign	Het
Fbxw9	T	C	8: 85,065,901	S322P	probably damaging	Het
Fmo5	T	A	3: 97,645,879	I381N	probably damaging	Het
Fmo6	T	C	1: 162,924,395	D175G	probably benign	Het
Gm11127	T	A	17: 36,058,361		probably benign	Het
Gm340	G	T	19: 41,585,364	A853S	probably benign	Het
Gm7361	A	G	5: 26,262,010		probably null	Het
Gm9961	G	A	16: 11,903,035		probably benign	Het
Golga7b	T	A	19: 42,266,966		probably null	Het
Gorab	T	C	1: 163,386,398	E321G	probably benign	Het
Gpx1	T	A	9: 108,339,395	V28E	probably benign	Het
Hist2h3c1	T	C	3: 96,247,259	I125T	probably damaging	Het
Hk1	T	C	10: 62,342,539	S8G	probably benign	Het
Iqsec1	C	T	6: 90,664,056	R1026H	probably damaging	Het
Kdm4b	A	T	17: 56,353,091	Y86F	probably benign	Het
Kprp	C	T	3: 92,824,522	R407Q	unknown	Het
Lamb1	C	T	12: 31,321,006	T1400M	probably benign	Het
Lrriq3	T	A	3: 155,187,810	Y383N	possibly damaging	Het
Map3k21	T	C	8: 125,927,555	I371T	probably benign	Het
Mllt1	A	T	17: 56,905,819	F105I	probably damaging	Het
Nfatc2	A	G	2: 168,536,392	M451T	probably damaging	Het
Nfkbiz	A	C	16: 55,818,424	N224K	probably damaging	Het
Nlrp4d	A	G	7: 10,381,161	V531A	noncoding transcript	Het
Noc3l	A	G	19: 38,789,637	Y778H	probably benign	Het
Nup98	C	A	7: 102,153,196	A734S	possibly damaging	Het
Olfr1016	A	G	2: 85,799,689	Y194H	probably damaging	Het
Olfr700	T	C	7: 106,805,964	Y166C	probably damaging	Het
Olfr730	T	A	14: 50,186,582	I212F	probably damaging	Het
Olfr824	T	A	10: 130,126,887	R57*	probably null	Het
Pate4	A	T	9: 35,608,239	C52S	probably damaging	Het
Pecr	C	A	1: 72,277,331	A72S	probably benign	Het
Pomt1	A	G	2: 32,251,992	N578S	probably benign	Het
Ppm1a	T	C	12: 72,783,964	S88P	probably benign	Het
Prdm13	A	G	4: 21,685,543	S86P	unknown	Het
Prph2	T	C	17: 46,910,922	S76P	probably benign	Het
Sarnp	G	A	10: 128,833,343	R23H	probably damaging	Het
Sept1	T	C	7: 127,216,892		probably benign	Het
Serpini1	T	C	3: 75,613,174	I26T	probably benign	Het
Setdb2	A	G	14: 59,409,266	I616T	probably benign	Het
Slc2a10	T	C	2: 165,514,621	F67S	probably benign	Het
Slc38a6	T	A	12: 73,343,650		probably null	Het
Smg6	T	C	11: 74,930,162	S420P	possibly damaging	Het
Srp72	T	A	5: 76,984,162	H229Q	probably benign	Het
Ston2	A	G	12: 91,648,674	V320A	possibly damaging	Het
Stx3	A	T	19: 11,777,151	I269N	possibly damaging	Het
Tdg-ps	A	G	15: 82,516,642		noncoding transcript	Het
Tecpr1	T	A	5: 144,214,117	N291I	probably benign	Het
Tmem177	A	G	1: 119,910,823	V42A	probably benign	Het
Trim26	T	A	17: 36,857,994		probably benign	Het
Ttc17	A	G	2: 94,366,635	S456P	probably benign	Het
Tubgcp6	T	C	15: 89,103,818	Y984C	probably benign	Het
Unc5cl	A	G	17: 48,459,844	E82G	possibly damaging	Het
Uncx	T	C	5: 139,544,120	S43P	probably damaging	Het
Vmn1r1	A	G	1: 182,157,767	V111A	probably benign	Het
Vmn1r168	A	G	7: 23,541,482	I255V	probably damaging	Het
Vwce	A	G	19: 10,650,636	T487A	probably benign	Het
Xaf1	A	G	11: 72,306,856		probably benign	Het
Zfp27	G	T	7: 29,894,836	P568Q	probably damaging	Het
Zfp382	A	T	7: 30,133,460	I179F	possibly damaging	Het

Other mutations in Ppm1l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00863:Ppm1l	APN	3	69317950	missense	probably damaging	1.00
IGL02834:Ppm1l	APN	3	69549343	missense	probably damaging	1.00
R0270:Ppm1l	UTSW	3	69317976	splice site	probably benign
R0310:Ppm1l	UTSW	3	69549461	missense	probably benign	0.39
R0557:Ppm1l	UTSW	3	69497901	missense	probably benign	0.39
R1577:Ppm1l	UTSW	3	69553070	missense	probably damaging	1.00
R3508:Ppm1l	UTSW	3	69549480	missense	possibly damaging	0.81
R4750:Ppm1l	UTSW	3	69549328	missense	probably damaging	0.99
R5007:Ppm1l	UTSW	3	69317598	missense	probably damaging	1.00
R5406:Ppm1l	UTSW	3	69317594	missense	possibly damaging	0.66
R6168:Ppm1l	UTSW	3	69549407	missense	probably damaging	1.00
R6256:Ppm1l	UTSW	3	69497897	missense	probably benign
R6474:Ppm1l	UTSW	3	69553041	missense	probably damaging	0.99
R6517:Ppm1l	UTSW	3	69317583	missense	probably damaging	0.98
R6949:Ppm1l	UTSW	3	69549403	missense	possibly damaging	0.90
R7029:Ppm1l	UTSW	3	69553066	missense	probably benign	0.16
R7086:Ppm1l	UTSW	3	69317853	missense	probably damaging	1.00
R7312:Ppm1l	UTSW	3	69317711	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- TTAGGCCAACACAAAGCAGG -3'
(R):5'- CAGTTCTTCTAACAGGCCTGTC -3'

Sequencing Primer
(F):5'- AAAGCAGGCCTGTTTTGTTG -3'
(R):5'- TAACAGGCCTGTCCAGTTCAG -3'

Posted On

2016-03-17