Mutagenetix > Incidental Mutation

Incidental Mutation 'R7086:Ppm1l'

549884

Institutional Source

Beutler Lab

Gene Symbol

Ppm1l

Ensembl Gene

ENSMUSG00000027784

Gene Name

protein phosphatase 1 (formerly 2C)-like

Synonyms

Pp2ce, 5930404J21Rik, PP2C-epsilon

MMRRC Submission

045180-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.178) question?

Stock #

R7086 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

69224251-69468131 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 69225186 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 96 (Y96C)

Ref Sequence

ENSEMBL: ENSMUSP00000029355 (fasta)

Gene Model

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

AlphaFold

Q8BHN0

Predicted Effect

probably damaging
Transcript: ENSMUST00000029355
AA Change: Y96C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000029355
Gene: ENSMUSG00000027784
AA Change: Y96C

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

Meta Mutation Damage Score

0.9023

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

98% (60/61)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam30	A	G	3: 98,068,635 (GRCm39)	H28R	probably damaging	Het
Adgre4	T	C	17: 56,127,649 (GRCm39)	I563T	probably benign	Het
Ankub1	A	T	3: 57,597,746 (GRCm39)	C75S	probably damaging	Het
Antxrl	G	A	14: 33,787,873 (GRCm39)	V299I	probably benign	Het
Arfgef2	T	A	2: 166,718,536 (GRCm39)	C1442S	probably damaging	Het
Atp13a3	T	C	16: 30,169,881 (GRCm39)	D399G	possibly damaging	Het
Cacna2d1	T	A	5: 16,554,414 (GRCm39)	Y666N	probably damaging	Het
Cenpo	C	T	12: 4,265,307 (GRCm39)	E238K	probably benign	Het
Cfap91	A	T	16: 38,127,219 (GRCm39)	F512L	possibly damaging	Het
Chrng	C	A	1: 87,138,735 (GRCm39)	R455S	probably benign	Het
Cimap1a	A	G	7: 140,429,402 (GRCm39)	H151R	probably benign	Het
Cluh	T	A	11: 74,558,166 (GRCm39)	H1155Q	possibly damaging	Het
Col16a1	G	A	4: 129,946,773 (GRCm39)		probably null	Het
Cpne5	G	A	17: 29,378,051 (GRCm39)	P576L	unknown	Het
Crocc	C	A	4: 140,774,368 (GRCm39)	V144L	possibly damaging	Het
Cubn	A	G	2: 13,324,669 (GRCm39)	V2781A	probably damaging	Het
Cyp8b1	A	G	9: 121,744,355 (GRCm39)	F326L	probably benign	Het
Dclk1	G	A	3: 55,395,333 (GRCm39)		probably null	Het
Dennd2b	A	G	7: 109,124,781 (GRCm39)	I1083T	probably damaging	Het
Dnah7c	A	G	1: 46,789,285 (GRCm39)	R3303G	probably benign	Het
Dnhd1	G	T	7: 105,357,739 (GRCm39)	R3191S	probably benign	Het
Fgfbp3	T	G	19: 36,896,103 (GRCm39)	S172R	possibly damaging	Het
Gpr158	G	A	2: 21,831,386 (GRCm39)	V829I	probably benign	Het
Gtse1	A	G	15: 85,759,750 (GRCm39)	D647G	probably damaging	Het
H2-Q7	T	A	17: 35,658,461 (GRCm39)	V33E	probably damaging	Het
Hydin	A	G	8: 111,326,877 (GRCm39)	T4739A	possibly damaging	Het
Kcnip1	G	T	11: 33,584,629 (GRCm39)	P175T	probably damaging	Het
Klhl10	T	C	11: 100,347,768 (GRCm39)	V608A	probably benign	Het
Klhl2	A	G	8: 65,275,664 (GRCm39)	Y80H	probably damaging	Het
Lnx2	A	T	5: 146,956,988 (GRCm39)		probably null	Het
Lst1	G	A	17: 35,404,262 (GRCm39)	H59Y	probably damaging	Het
Mphosph8	G	C	14: 56,905,980 (GRCm39)	V58L	possibly damaging	Het
Mpnd	C	A	17: 56,316,457 (GRCm39)	S45R	possibly damaging	Het
Myh8	A	G	11: 67,183,453 (GRCm39)		probably null	Het
Or12j4	A	G	7: 140,046,341 (GRCm39)	T76A	possibly damaging	Het
Or4c52	A	G	2: 89,845,594 (GRCm39)	I107V	probably benign	Het
Phox2a	A	G	7: 101,467,718 (GRCm39)	Y5C	probably damaging	Het
Pkdrej	A	G	15: 85,704,317 (GRCm39)	S540P	probably damaging	Het
Plcb4	A	G	2: 135,849,767 (GRCm39)	M1133V	probably benign	Het
Plxnc1	T	C	10: 94,667,297 (GRCm39)	M1126V	probably benign	Het
Prpsap1	T	C	11: 116,368,109 (GRCm39)	T234A	probably benign	Het
R3hcc1l	T	C	19: 42,570,409 (GRCm39)	V668A	probably damaging	Het
Rapgef2	A	G	3: 78,993,353 (GRCm39)	S712P	probably benign	Het
Rcc2	T	C	4: 140,435,280 (GRCm39)	C100R	probably benign	Het
Recql4	C	A	15: 76,589,753 (GRCm39)	G764V	unknown	Het
Rlbp1	A	G	7: 79,029,813 (GRCm39)	I140T	possibly damaging	Het
Samsn1	T	C	16: 75,667,794 (GRCm39)	T261A	probably benign	Het
Sgtb	T	C	13: 104,254,924 (GRCm39)	S65P	possibly damaging	Het
Spag9	T	C	11: 93,988,690 (GRCm39)	V920A	probably benign	Het
Spata31	T	A	13: 65,070,043 (GRCm39)	S730R	probably benign	Het
Spta1	C	T	1: 174,027,050 (GRCm39)	A841V	probably damaging	Het
Tnfaip1	T	C	11: 78,416,265 (GRCm39)	S273G	probably benign	Het
Vezf1	T	C	11: 87,969,364 (GRCm39)	V371A	probably benign	Het
Vmn1r67	G	A	7: 10,181,044 (GRCm39)	V103I	possibly damaging	Het
Vmn2r87	G	T	10: 130,333,178 (GRCm39)	T24K	probably benign	Het
Wdr43	G	A	17: 71,923,434 (GRCm39)	G60D	probably benign	Het
Xkr4	G	A	1: 3,287,185 (GRCm39)	T335I	probably damaging	Het
Zdhhc23	A	T	16: 43,791,873 (GRCm39)	I300N	probably damaging	Het
Zfp729b	T	C	13: 67,741,056 (GRCm39)	K403R	probably damaging	Het

Other mutations in Ppm1l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00863:Ppm1l	APN	3	69,225,283 (GRCm39)	missense	probably damaging	1.00
IGL02834:Ppm1l	APN	3	69,456,676 (GRCm39)	missense	probably damaging	1.00
R0270:Ppm1l	UTSW	3	69,225,309 (GRCm39)	splice site	probably benign
R0310:Ppm1l	UTSW	3	69,456,794 (GRCm39)	missense	probably benign	0.39
R0557:Ppm1l	UTSW	3	69,405,234 (GRCm39)	missense	probably benign	0.39
R1577:Ppm1l	UTSW	3	69,460,403 (GRCm39)	missense	probably damaging	1.00
R3508:Ppm1l	UTSW	3	69,456,813 (GRCm39)	missense	possibly damaging	0.81
R4750:Ppm1l	UTSW	3	69,456,661 (GRCm39)	missense	probably damaging	0.99
R4864:Ppm1l	UTSW	3	69,449,844 (GRCm39)	intron	probably benign
R5007:Ppm1l	UTSW	3	69,224,931 (GRCm39)	missense	probably damaging	1.00
R5406:Ppm1l	UTSW	3	69,224,927 (GRCm39)	missense	possibly damaging	0.66
R6168:Ppm1l	UTSW	3	69,456,740 (GRCm39)	missense	probably damaging	1.00
R6256:Ppm1l	UTSW	3	69,405,230 (GRCm39)	missense	probably benign
R6474:Ppm1l	UTSW	3	69,460,374 (GRCm39)	missense	probably damaging	0.99
R6517:Ppm1l	UTSW	3	69,224,916 (GRCm39)	missense	probably damaging	0.98
R6949:Ppm1l	UTSW	3	69,456,736 (GRCm39)	missense	possibly damaging	0.90
R7029:Ppm1l	UTSW	3	69,460,399 (GRCm39)	missense	probably benign	0.16
R7312:Ppm1l	UTSW	3	69,225,044 (GRCm39)	missense	probably benign	0.03
R9225:Ppm1l	UTSW	3	69,460,244 (GRCm39)	missense	probably benign	0.13
R9329:Ppm1l	UTSW	3	69,460,453 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTACTTCTTCCACACGGACG -3'
(R):5'- GACTCACCTTGTCATCACCAG -3'

Sequencing Primer
(F):5'- CGAAGTGAAGACCATCGTTAAGTC -3'
(R):5'- ACCTTGTCATCACCAGGTCATTAC -3'

Posted On

2019-05-15