Mutagenetix > Incidental Mutation

Incidental Mutation 'R4750:Ppm1l'

357472

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

042031-MU

Accession Numbers

Essential gene?

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

Stock #

R4750 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

69224251-69468131 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 69456661 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 193 (T193A)

Ref Sequence

ENSEMBL: ENSMUSP00000029355 (fasta)

Gene Model

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

AlphaFold

Q8BHN0

Predicted Effect

probably damaging
Transcript: ENSMUST00000029355
AA Change: T193A

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000029355
Gene: ENSMUSG00000027784
AA Change: T193A

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: ENSMUST00000128637

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

Meta Mutation Damage Score

0.8169

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.9%

Validation Efficiency

97% (89/92)

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2510039O18Rik	T	A	4: 148,025,945 (GRCm39)	L155Q	probably damaging	Het
Aadac	T	C	3: 59,943,238 (GRCm39)	F48L	probably benign	Het
Aadat	T	A	8: 60,979,634 (GRCm39)	N165K	probably benign	Het
Acan	C	A	7: 78,742,466 (GRCm39)	D557E	probably damaging	Het
Adamts4	T	A	1: 171,078,635 (GRCm39)	V85D	probably benign	Het
Agt	A	G	8: 125,283,676 (GRCm39)	V481A	probably benign	Het
Angpt1	T	C	15: 42,539,797 (GRCm39)	N21D	probably benign	Het
Ankrd52	A	C	10: 128,213,958 (GRCm39)	D38A	probably damaging	Het
Ap1g2	G	T	14: 55,341,822 (GRCm39)	Q247K	probably damaging	Het
Apaf1	T	C	10: 90,896,050 (GRCm39)	R341G	probably damaging	Het
Arf2	T	C	11: 103,870,585 (GRCm39)		probably null	Het
Arhgef1	A	G	7: 24,618,001 (GRCm39)		probably benign	Het
Bbln	C	T	2: 32,269,425 (GRCm39)		probably null	Het
Bbox1	T	A	2: 110,095,866 (GRCm39)	Y366F	possibly damaging	Het
Bmp3	A	G	5: 99,020,417 (GRCm39)	E280G	possibly damaging	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,619,782 (GRCm39)		probably benign	Het
Cdh12	T	A	15: 21,583,894 (GRCm39)	V578D	possibly damaging	Het
Cdk19	T	C	10: 40,352,195 (GRCm39)	S282P	probably damaging	Het
Cfap46	A	G	7: 139,259,239 (GRCm39)		probably null	Het
Cfhr3	T	A	1: 139,512,566 (GRCm39)		noncoding transcript	Het
Ctrc	T	A	4: 141,568,834 (GRCm39)	Y123F	probably benign	Het
Dync2i2	T	C	2: 29,923,932 (GRCm39)	T198A	probably benign	Het
Enpp4	A	G	17: 44,413,246 (GRCm39)	M96T	probably damaging	Het
Exosc10	T	A	4: 148,646,851 (GRCm39)	S154T	possibly damaging	Het
Fbxo21	G	A	5: 118,138,533 (GRCm39)	R486H	probably benign	Het
Foxj3	C	A	4: 119,473,787 (GRCm39)	A204E	probably damaging	Het
Gas6	T	G	8: 13,526,227 (GRCm39)	D237A	probably benign	Het
Gimap8	A	G	6: 48,627,361 (GRCm39)	S112G	probably benign	Het
Gm4787	T	C	12: 81,425,141 (GRCm39)	N339S	possibly damaging	Het
Gm6185	T	C	1: 161,009,933 (GRCm39)		noncoding transcript	Het
Gramd2b	A	G	18: 56,565,372 (GRCm39)	E9G	probably benign	Het
Hmgxb3	A	T	18: 61,300,568 (GRCm39)	D169E	probably benign	Het
Isl2	T	A	9: 55,451,596 (GRCm39)	V162D	probably benign	Het
Kcns3	T	A	12: 11,141,655 (GRCm39)	D348V	probably damaging	Het
Kcp	G	A	6: 29,484,625 (GRCm39)	P1318S	probably benign	Het
Kif12	T	A	4: 63,086,020 (GRCm39)	Q415L	probably damaging	Het
Lama3	T	A	18: 12,637,416 (GRCm39)	H45Q	probably benign	Het
Lonp2	A	T	8: 87,358,130 (GRCm39)	K117M	probably benign	Het
Loxl4	T	A	19: 42,593,443 (GRCm39)	N243Y	probably damaging	Het
Lrif1	C	A	3: 106,642,880 (GRCm39)	Q662K	probably benign	Het
Lrrc37a	T	A	11: 103,346,306 (GRCm39)	I3187L	probably benign	Het
Lsg1	A	G	16: 30,384,267 (GRCm39)	I521T	probably damaging	Het
Mecom	T	G	3: 30,011,679 (GRCm39)	K865Q	probably damaging	Het
Myh10	T	C	11: 68,676,140 (GRCm39)	I790T	probably damaging	Het
Nek7	C	T	1: 138,426,411 (GRCm39)	S234N	probably damaging	Het
Nepro	T	C	16: 44,550,545 (GRCm39)	L179P	probably damaging	Het
Nexn	A	G	3: 151,943,359 (GRCm39)	C649R	probably damaging	Het
Nsmf	T	C	2: 24,945,038 (GRCm39)	S34P	probably damaging	Het
Or10x1	A	G	1: 174,196,488 (GRCm39)	I2V	probably benign	Het
Or13n4	A	G	7: 106,423,514 (GRCm39)	F73S	probably damaging	Het
Or13p5	T	A	4: 118,591,930 (GRCm39)	V68D	possibly damaging	Het
Or1n2	T	A	2: 36,797,728 (GRCm39)	S257T	probably benign	Het
Or1p1c	T	A	11: 74,160,246 (GRCm39)	F10L	probably benign	Het
Or2w2	A	G	13: 21,757,913 (GRCm39)	S238P	possibly damaging	Het
Or52l1	A	T	7: 104,830,133 (GRCm39)	I144N	probably damaging	Het
Or5bw2	A	G	7: 6,573,850 (GRCm39)	I287V	probably benign	Het
Or5w16	C	T	2: 87,576,852 (GRCm39)	T104I	probably benign	Het
P2rx5	G	T	11: 73,055,703 (GRCm39)	K53N	probably damaging	Het
Pcdhb20	C	A	18: 37,639,184 (GRCm39)	A570E	possibly damaging	Het
Pip4k2c	T	C	10: 127,047,286 (GRCm39)	H32R	unknown	Het
Pkhd1	T	A	1: 20,594,336 (GRCm39)	D1259V	possibly damaging	Het
Plekha7	A	T	7: 115,736,546 (GRCm39)	V889E	probably damaging	Het
Polr2b	A	C	5: 77,479,886 (GRCm39)	E546D	possibly damaging	Het
Ppp1r37	G	T	7: 19,265,445 (GRCm39)	D710E	probably benign	Het
Prdm4	A	G	10: 85,735,085 (GRCm39)	F679L	probably damaging	Het
Prkcd	A	G	14: 30,332,258 (GRCm39)	M1T	probably null	Het
Prss59	A	G	6: 40,897,955 (GRCm39)	W243R	probably damaging	Het
Rcor3	A	G	1: 191,814,749 (GRCm39)	Y77H	unknown	Het
Rdh5	T	C	10: 128,754,235 (GRCm39)	E66G	possibly damaging	Het
Slc12a5	A	G	2: 164,824,851 (GRCm39)	M396V	probably benign	Het
Slco5a1	T	G	1: 12,949,504 (GRCm39)	T629P	probably damaging	Het
Smarca5	A	C	8: 81,460,336 (GRCm39)	N133K	probably benign	Het
Spag5	T	C	11: 78,210,878 (GRCm39)	M927T	probably benign	Het
Spint4	A	T	2: 164,542,066 (GRCm39)	D39V	probably damaging	Het
Syt6	T	A	3: 103,538,233 (GRCm39)	*512R	probably null	Het
Tmem247	T	C	17: 87,229,770 (GRCm39)	C204R	probably damaging	Het
Tmem72	A	G	6: 116,672,395 (GRCm39)	Y149H	probably damaging	Het
Trpm6	T	C	19: 18,853,428 (GRCm39)	V1816A	probably damaging	Het
Usp35	A	G	7: 96,959,546 (GRCm39)	V1008A	possibly damaging	Het
Washc4	T	C	10: 83,426,916 (GRCm39)	S1075P	probably damaging	Het
Xylb	G	T	9: 119,188,379 (GRCm39)	G62*	probably null	Het
Zfp142	T	C	1: 74,611,617 (GRCm39)	E623G	probably damaging	Het
Zfp239	A	G	6: 117,848,700 (GRCm39)	Y146C	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
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
R7086:Ppm1l	UTSW	3	69,225,186 (GRCm39)	missense	probably damaging	1.00
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'- TTCAGTGACAGCGTAACACG -3'
(R):5'- CAAGATGGTAGACTTCCCCAG -3'

Sequencing Primer
(F):5'- AAATGGCCTGTCAGATTTGATCAGG -3'
(R):5'- TAGACTTCCCCAGGGTGGTG -3'

Posted On

2015-11-11