Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00941:Ppm1k'

27645

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ppm1k

Ensembl Gene

ENSMUSG00000037826

Gene Name

protein phosphatase 1K (PP2C domain containing)

Synonyms

A930026L03Rik, 2900063A19Rik, PP2Cm

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.067) question?

Stock #

IGL00941

Quality Score

Status

Chromosome

Chromosomal Location

57506502-57535468 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 57524755 bp

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 141 (H141L)

Ref Sequence

ENSEMBL: ENSMUSP00000041395 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042766]

Predicted Effect

probably benign
Transcript: ENSMUST00000042766
AA Change: H141L

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000041395
Gene: ENSMUSG00000037826
AA Change: H141L

Domain	Start	End	E-Value	Type
PP2Cc	88	344	2.16e-68	SMART
PP2C_SIG	93	346	1.15e-3	SMART
low complexity region	359	368	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204686

Coding Region Coverage

Validation Efficiency

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 Mn2+/Mg2+-dependent protein phosphatases. The encoded protein, essential for cell survival and development, is targeted to the mitochondria where it plays a key role in regulation of the mitochondrial permeability transition pore. [provided by RefSeq, Sep 2012]
PHENOTYPE: Mice homozygous for a null allele exhibit defective amino acid metabolism, increased oxidative stress, and increased mortality when subjected to a high-protein diet while in utero and during postnatal development. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	A	C	17: 24,317,130	I521S	probably damaging	Het
Ace	A	T	11: 105,979,550	K265I	probably benign	Het
Acss3	A	G	10: 107,053,326		probably null	Het
Aldh3a2	A	G	11: 61,262,256	Y215H	probably damaging	Het
Clk2	A	G	3: 89,175,422	M393V	probably damaging	Het
Cyc1	A	G	15: 76,345,165	I242V	probably benign	Het
Evpl	G	A	11: 116,227,901	L657F	probably benign	Het
Fbxw10	G	A	11: 62,873,501	V675M	probably damaging	Het
Fgf21	A	G	7: 45,615,173	V45A	probably damaging	Het
Gm5134	T	C	10: 76,000,421	I412T	possibly damaging	Het
Gnat3	T	C	5: 18,003,751		probably benign	Het
Hk3	C	T	13: 55,014,426		probably null	Het
Ifna12	A	T	4: 88,603,314		probably benign	Het
Ipp	A	G	4: 116,532,659	M471V	possibly damaging	Het
Kcnj1	G	A	9: 32,396,498	V73I	probably benign	Het
Kin	G	A	2: 10,080,704	R25H	probably damaging	Het
Kin	T	C	2: 10,080,706	W26R	probably damaging	Het
Mical2	T	C	7: 112,321,445		probably benign	Het
Mllt1	A	T	17: 56,895,086	S428R	probably damaging	Het
Sept4	G	T	11: 87,589,773	C392F	probably damaging	Het
Slc26a11	T	C	11: 119,379,901	F550L	probably benign	Het
Ssb	T	A	2: 69,870,835		probably null	Het
Stk36	T	A	1: 74,623,934	M588K	possibly damaging	Het
Ubqln4	G	A	3: 88,564,501	A415T	probably benign	Het
Zfp839	C	A	12: 110,860,948	S424R	probably damaging	Het
Zkscan6	G	T	11: 65,814,747	G95W	probably damaging	Het

Other mutations in Ppm1k

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01395:Ppm1k	APN	6	57513958	missense	probably benign
IGL01923:Ppm1k	APN	6	57522828	missense	probably benign	0.01
IGL02484:Ppm1k	APN	6	57525012	missense	possibly damaging	0.59
IGL03149:Ppm1k	APN	6	57524774	missense	probably damaging	0.99
IGL03340:Ppm1k	APN	6	57510726	missense	probably damaging	1.00
R1230:Ppm1k	UTSW	6	57525074	missense	probably benign
R1425:Ppm1k	UTSW	6	57524789	missense	probably damaging	1.00
R1522:Ppm1k	UTSW	6	57525157	missense	possibly damaging	0.48
R3508:Ppm1k	UTSW	6	57514990	missense	probably damaging	0.99
R3751:Ppm1k	UTSW	6	57524860	missense	probably benign	0.01
R4845:Ppm1k	UTSW	6	57522768	nonsense	probably null
R4914:Ppm1k	UTSW	6	57510777	missense	probably damaging	0.99
R4915:Ppm1k	UTSW	6	57510777	missense	probably damaging	0.99
R4918:Ppm1k	UTSW	6	57510777	missense	probably damaging	0.99
R5430:Ppm1k	UTSW	6	57524886	nonsense	probably null
R6907:Ppm1k	UTSW	6	57510770	missense	probably benign	0.01
R6962:Ppm1k	UTSW	6	57515660	missense	probably damaging	0.99
R7943:Ppm1k	UTSW	6	57524828	missense	probably benign	0.14
X0024:Ppm1k	UTSW	6	57514010	nonsense	probably null

Posted On

2013-04-17