Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03149:Ppm1k'

411039

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ppm1k

Ensembl Gene

ENSMUSG00000037826

Gene Name

protein phosphatase 1K (PP2C domain containing)

Synonyms

PP2Cm, 2900063A19Rik, A930026L03Rik

Accession Numbers

Essential gene?

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

Stock #

IGL03149

Quality Score

Status

Chromosome

Chromosomal Location

57483487-57512453 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 57501759 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 135 (A135S)

Ref Sequence

ENSEMBL: ENSMUSP00000041395 (fasta)

Gene Model

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

AlphaFold

Q8BXN7

Predicted Effect

probably damaging
Transcript: ENSMUST00000042766
AA Change: A135S

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000041395
Gene: ENSMUSG00000037826
AA Change: A135S

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap10	A	G	8: 78,136,167 (GRCm39)		probably benign	Het
Arhgap42	A	G	9: 9,008,085 (GRCm39)	I546T	possibly damaging	Het
Arsj	A	T	3: 126,233,053 (GRCm39)		probably benign	Het
Ash2l	A	G	8: 26,308,650 (GRCm39)	V543A	probably benign	Het
B4galnt3	A	G	6: 120,208,555 (GRCm39)		probably benign	Het
Blvra	T	A	2: 126,924,871 (GRCm39)	V11E	probably damaging	Het
Calcb	T	C	7: 114,319,371 (GRCm39)	L51P	probably damaging	Het
Cd36	T	A	5: 18,025,563 (GRCm39)	K52N	probably benign	Het
Cebpz	T	C	17: 79,229,982 (GRCm39)	N857S	probably benign	Het
Ces1b	A	G	8: 93,791,502 (GRCm39)		probably benign	Het
Clspn	T	C	4: 126,470,295 (GRCm39)		probably benign	Het
Cr2	A	T	1: 194,848,674 (GRCm39)	L283H	probably damaging	Het
Ctc1	T	C	11: 68,921,987 (GRCm39)	V811A	possibly damaging	Het
Ctsk	T	C	3: 95,408,730 (GRCm39)	S65P	possibly damaging	Het
Ddx51	A	G	5: 110,801,600 (GRCm39)	N83D	probably benign	Het
Eci2	T	C	13: 35,172,296 (GRCm39)	T146A	probably benign	Het
Erbin	T	C	13: 103,977,671 (GRCm39)	N629D	possibly damaging	Het
Etfbkmt	A	G	6: 149,045,781 (GRCm39)	E45G	probably damaging	Het
Fat4	A	G	3: 39,045,834 (GRCm39)	N3951S	probably damaging	Het
Fktn	T	C	4: 53,744,653 (GRCm39)	V311A	probably benign	Het
Garem1	G	T	18: 21,264,523 (GRCm39)	P534T	probably damaging	Het
Gm8237	A	G	14: 5,864,451 (GRCm38)	I37T	probably benign	Het
Ikzf5	T	C	7: 130,998,494 (GRCm39)	K13E	probably damaging	Het
Kl	T	A	5: 150,906,200 (GRCm39)	C523*	probably null	Het
Klhl7	G	A	5: 24,364,687 (GRCm39)	V574I	probably benign	Het
Lyst	T	C	13: 13,856,029 (GRCm39)	V2450A	probably benign	Het
Map3k6	A	T	4: 132,976,999 (GRCm39)	I819F	probably damaging	Het
Mphosph9	T	C	5: 124,401,074 (GRCm39)	E891G	probably damaging	Het
Myo7b	A	G	18: 32,147,355 (GRCm39)	S63P	probably damaging	Het
Ndufaf7	C	T	17: 79,252,439 (GRCm39)	R283C	possibly damaging	Het
Nepro	G	T	16: 44,547,462 (GRCm39)	A60S	probably damaging	Het
Nop56	T	C	2: 130,119,445 (GRCm39)	S354P	probably damaging	Het
Nwd2	T	A	5: 63,963,338 (GRCm39)	L974H	probably damaging	Het
Or4a80	T	C	2: 89,583,172 (GRCm39)		probably null	Het
Or52ad1	A	T	7: 102,996,056 (GRCm39)	H26Q	probably benign	Het
Pacsin3	T	A	2: 91,091,852 (GRCm39)		probably benign	Het
Parp12	C	T	6: 39,091,165 (GRCm39)	D142N	probably benign	Het
Pcdh15	G	A	10: 74,466,527 (GRCm39)	D1449N	probably damaging	Het
Pcsk7	C	T	9: 45,820,778 (GRCm39)	T70M	probably benign	Het
Pld4	T	C	12: 112,733,263 (GRCm39)	F280L	probably benign	Het
Prkcq	A	T	2: 11,237,356 (GRCm39)	Y45F	probably benign	Het
Prom1	T	A	5: 44,187,076 (GRCm39)	I385F	probably damaging	Het
Prss12	A	G	3: 123,299,036 (GRCm39)	N603D	probably benign	Het
Ptbp2	G	T	3: 119,514,074 (GRCm39)	T501K	possibly damaging	Het
Ranbp17	C	A	11: 33,193,183 (GRCm39)	R957L	possibly damaging	Het
Rasl10a	T	C	11: 5,008,429 (GRCm39)	Y42H	possibly damaging	Het
Serpina9	G	A	12: 103,974,869 (GRCm39)	Q95*	probably null	Het
Serpinb1b	C	A	13: 33,269,275 (GRCm39)	Q3K	possibly damaging	Het
Sgo2b	T	A	8: 64,379,617 (GRCm39)	M1072L	probably benign	Het
Slc1a5	T	C	7: 16,523,745 (GRCm39)	V250A	probably damaging	Het
Slc30a6	T	C	17: 74,730,018 (GRCm39)	S303P	probably damaging	Het
Tbc1d2	A	T	4: 46,637,619 (GRCm39)	I209N	probably benign	Het
Tmc4	T	A	7: 3,670,177 (GRCm39)	I484L	probably benign	Het
Ttll5	G	A	12: 85,965,758 (GRCm39)	E36K	probably damaging	Het
Unc93b1	A	G	19: 3,994,041 (GRCm39)	M391V	probably benign	Het
Xpo5	T	A	17: 46,526,740 (GRCm39)		probably null	Het

Other mutations in Ppm1k

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00941:Ppm1k	APN	6	57,501,740 (GRCm39)	missense	probably benign	0.05
IGL01395:Ppm1k	APN	6	57,490,943 (GRCm39)	missense	probably benign
IGL01923:Ppm1k	APN	6	57,499,813 (GRCm39)	missense	probably benign	0.01
IGL02484:Ppm1k	APN	6	57,501,997 (GRCm39)	missense	possibly damaging	0.59
IGL03340:Ppm1k	APN	6	57,487,711 (GRCm39)	missense	probably damaging	1.00
R1230:Ppm1k	UTSW	6	57,502,059 (GRCm39)	missense	probably benign
R1425:Ppm1k	UTSW	6	57,501,774 (GRCm39)	missense	probably damaging	1.00
R1522:Ppm1k	UTSW	6	57,502,142 (GRCm39)	missense	possibly damaging	0.48
R3508:Ppm1k	UTSW	6	57,491,975 (GRCm39)	missense	probably damaging	0.99
R3751:Ppm1k	UTSW	6	57,501,845 (GRCm39)	missense	probably benign	0.01
R4845:Ppm1k	UTSW	6	57,499,753 (GRCm39)	nonsense	probably null
R4914:Ppm1k	UTSW	6	57,487,762 (GRCm39)	missense	probably damaging	0.99
R4915:Ppm1k	UTSW	6	57,487,762 (GRCm39)	missense	probably damaging	0.99
R4918:Ppm1k	UTSW	6	57,487,762 (GRCm39)	missense	probably damaging	0.99
R5430:Ppm1k	UTSW	6	57,501,871 (GRCm39)	nonsense	probably null
R6907:Ppm1k	UTSW	6	57,487,755 (GRCm39)	missense	probably benign	0.01
R6962:Ppm1k	UTSW	6	57,492,645 (GRCm39)	missense	probably damaging	0.99
R7943:Ppm1k	UTSW	6	57,501,813 (GRCm39)	missense	probably benign	0.14
R8834:Ppm1k	UTSW	6	57,502,023 (GRCm39)	missense	probably benign	0.01
R9461:Ppm1k	UTSW	6	57,487,720 (GRCm39)	missense	probably damaging	1.00
R9606:Ppm1k	UTSW	6	57,491,057 (GRCm39)	missense	possibly damaging	0.72
R9684:Ppm1k	UTSW	6	57,487,762 (GRCm39)	missense	probably damaging	0.99
R9711:Ppm1k	UTSW	6	57,492,720 (GRCm39)	missense	probably damaging	1.00
X0024:Ppm1k	UTSW	6	57,490,995 (GRCm39)	nonsense	probably null

Posted On

2016-08-02