Mutagenetix > Incidental Mutation

Incidental Mutation 'R9329:Ppm1l'

706706

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

Accession Numbers

Essential gene?

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

Stock #

R9329 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

69224251-69468131 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 69460453 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 343 (N343K)

Ref Sequence

ENSEMBL: ENSMUSP00000029355 (fasta)

Gene Model

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

AlphaFold

Q8BHN0

Predicted Effect

probably damaging
Transcript: ENSMUST00000029355
AA Change: N343K

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

SMART Domains

Protein: ENSMUSP00000029355
Gene: ENSMUSG00000027784
AA Change: N343K

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

99% (73/74)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003E16Rik	T	G	6: 83,133,556 (GRCm39)	M1R	probably null	Het
Acap2	T	C	16: 30,946,238 (GRCm39)	D235G	probably damaging	Het
Adgrv1	C	A	13: 81,647,241 (GRCm39)	V3100F	probably damaging	Het
Aff4	A	G	11: 53,288,686 (GRCm39)	T401A	probably damaging	Het
Apcs	T	C	1: 172,722,391 (GRCm39)	T22A	probably benign	Het
Atf7ip2	T	C	16: 10,059,738 (GRCm39)	V426A	possibly damaging	Het
Bach2	A	G	4: 32,562,175 (GRCm39)	D214G	possibly damaging	Het
Baz2a	C	T	10: 127,960,925 (GRCm39)	A1578V	possibly damaging	Het
Camk1d	T	C	2: 5,449,954 (GRCm39)	I76V	probably benign	Het
Ccdc182	A	T	11: 88,185,324 (GRCm39)	M135L	probably benign	Het
Cd47	C	T	16: 49,716,731 (GRCm39)	T201I		Het
Chodl	T	C	16: 78,746,030 (GRCm39)	S290P	possibly damaging	Het
Chst15	A	G	7: 131,868,520 (GRCm39)	L300P	possibly damaging	Het
Ciita	T	C	16: 10,324,571 (GRCm39)	S168P	probably damaging	Het
Cntn2	C	T	1: 132,456,678 (GRCm39)	V123I	probably benign	Het
Cyld	T	A	8: 89,457,348 (GRCm39)	L527Q	probably benign	Het
Dbn1	T	A	13: 55,631,241 (GRCm39)	Y34F	probably damaging	Het
Enc1	C	A	13: 97,383,018 (GRCm39)	Y509*	probably null	Het
Ermard	A	T	17: 15,273,643 (GRCm39)	E409D	probably benign	Het
Extl3	T	C	14: 65,314,765 (GRCm39)	E139G	possibly damaging	Het
Fa2h	A	T	8: 112,082,115 (GRCm39)	V177E	possibly damaging	Het
Flot2	T	C	11: 77,949,772 (GRCm39)	I367T	probably damaging	Het
Fras1	T	C	5: 96,884,813 (GRCm39)	Y2564H	probably damaging	Het
Fxyd3	A	G	7: 30,773,018 (GRCm39)	V10A	probably benign	Het
Gfra3	A	G	18: 34,837,560 (GRCm39)	L146P	probably damaging	Het
Gm49359	T	C	13: 62,602,448 (GRCm39)	N251D	probably benign	Het
Hps6	A	G	19: 45,992,542 (GRCm39)	S160G	probably benign	Het
Hsd17b7	C	A	1: 169,794,875 (GRCm39)	A55S	probably damaging	Het
Hspa12a	T	C	19: 58,789,298 (GRCm39)	D446G	probably benign	Het
Htt	G	A	5: 34,989,957 (GRCm39)	R1163Q	possibly damaging	Het
Ift81	T	C	5: 122,697,833 (GRCm39)		probably null	Het
Ighv5-15	T	G	12: 113,790,395 (GRCm39)	Y75S	probably benign	Het
Kcnd2	T	A	6: 21,725,981 (GRCm39)	H491Q	probably damaging	Het
Lamb3	C	A	1: 193,014,665 (GRCm39)	T608K	probably benign	Het
Lrtm2	T	A	6: 119,297,412 (GRCm39)	K210*	probably null	Het
Med13	G	T	11: 86,189,283 (GRCm39)	P1209T	probably benign	Het
Mtus1	G	A	8: 41,537,239 (GRCm39)	T159I	probably damaging	Het
Myt1l	A	G	12: 29,901,659 (GRCm39)	M805V	unknown	Het
Neb	G	T	2: 52,160,231 (GRCm39)	L2261I	probably benign	Het
Nlrp4c	G	A	7: 6,068,498 (GRCm39)	R133H	probably benign	Het
Nol11	A	T	11: 107,071,765 (GRCm39)	L276Q	probably damaging	Het
Nrap	A	G	19: 56,350,277 (GRCm39)	Y614H	probably damaging	Het
Or13c9	G	A	4: 52,936,211 (GRCm39)	T24M	probably damaging	Het
Or52p1	A	G	7: 104,267,705 (GRCm39)	H273R	probably damaging	Het
Pou2f3	A	G	9: 43,040,224 (GRCm39)	S355P	probably damaging	Het
Prh1	A	T	6: 132,548,573 (GRCm39)	I27F	unknown	Het
Prkrip1	A	T	5: 136,223,203 (GRCm39)	L85Q	probably damaging	Het
Pycr3	C	T	15: 75,790,563 (GRCm39)	V99I	probably benign	Het
R3hdm4	T	A	10: 79,749,393 (GRCm39)	N72I	probably damaging	Het
Rab11fip3	G	T	17: 26,231,032 (GRCm39)	H738N	probably benign	Het
Rtl1	G	A	12: 109,556,673 (GRCm39)	A1722V	possibly damaging	Het
Sell	A	G	1: 163,893,122 (GRCm39)	N113D	probably damaging	Het
Smarcal1	T	C	1: 72,665,697 (GRCm39)	S732P	probably damaging	Het
Smurf2	A	T	11: 106,743,424 (GRCm39)	D207E	probably benign	Het
Spata31h1	G	A	10: 82,121,439 (GRCm39)	S3857L	probably benign	Het
Tat	C	T	8: 110,723,510 (GRCm39)	R333C	probably benign	Het
Tmem121b	A	T	6: 120,469,234 (GRCm39)	F494L	probably damaging	Het
Tmem198	C	A	1: 75,456,522 (GRCm39)	P89Q	probably damaging	Het
Tnks2	T	G	19: 36,835,284 (GRCm39)	C2G	probably damaging	Het
Trappc9	T	C	15: 72,673,202 (GRCm39)	E869G	unknown	Het
Trim42	T	A	9: 97,251,584 (GRCm39)	K105M	probably benign	Het
Ttll3	T	C	6: 113,369,635 (GRCm39)	S60P	probably benign	Het
Ttll4	T	A	1: 74,725,121 (GRCm39)	I625N	possibly damaging	Het
Tubgcp5	T	A	7: 55,479,181 (GRCm39)		probably null	Het
Txlnb	A	T	10: 17,682,594 (GRCm39)	Y172F	probably damaging	Het
Ube2e3	A	T	2: 78,744,035 (GRCm39)	D88V	possibly damaging	Het
Vmn1r189	T	A	13: 22,286,430 (GRCm39)	I136L	probably benign	Het
Vmn2r71	A	G	7: 85,267,950 (GRCm39)	I135V	probably benign	Het
Vmn2r73	T	A	7: 85,519,073 (GRCm39)	R516S	probably benign	Het
Wrn	C	T	8: 33,731,006 (GRCm39)	E1352K	probably benign	Het
Zfp318	T	C	17: 46,722,139 (GRCm39)	S1381P	probably damaging	Het
Zfp747	A	T	7: 126,973,655 (GRCm39)	Y172N	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
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

Predicted Primers

PCR Primer
(F):5'- TCTCAACGTGGTCATCCCAG -3'
(R):5'- CCAAAGGGATTCAAGGCCATC -3'

Sequencing Primer
(F):5'- AGACATCTTGACCTTTGACCTGGAC -3'
(R):5'- CCATCAGGGAAGGGGGTTCTG -3'

Posted On

2022-04-18