Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02484:Ppm1k'

295350

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 #

IGL02484

Quality Score

Status

Chromosome

Chromosomal Location

57483487-57512453 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 57501997 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 55 (S55R)

Ref Sequence

ENSEMBL: ENSMUSP00000041395 (fasta)

Gene Model

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

AlphaFold

Q8BXN7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000042766
AA Change: S55R

PolyPhen 2 Score 0.590 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000041395
Gene: ENSMUSG00000037826
AA Change: S55R

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930432E11Rik	A	C	7: 29,262,777 (GRCm39)		noncoding transcript	Het
Araf	A	G	X: 20,720,148 (GRCm39)		probably benign	Het
Arrb2	T	A	11: 70,330,300 (GRCm39)	V308E	probably damaging	Het
Asap3	A	G	4: 135,956,768 (GRCm39)		probably benign	Het
Astn2	G	A	4: 65,910,516 (GRCm39)		probably benign	Het
Cactin	T	A	10: 81,158,808 (GRCm39)	I258N	probably benign	Het
Calhm6	T	C	10: 34,002,400 (GRCm39)	T228A	probably benign	Het
Catsperg1	T	C	7: 28,910,345 (GRCm39)		probably benign	Het
Ccna1	C	T	3: 54,955,915 (GRCm39)	D146N	probably benign	Het
Chrna3	T	C	9: 54,922,821 (GRCm39)	Y329C	probably damaging	Het
Ctps2	G	A	X: 161,693,005 (GRCm39)	G56D	probably damaging	Het
Cyp4b1	T	C	4: 115,504,754 (GRCm39)	D44G	probably benign	Het
D3Ertd751e	A	G	3: 41,708,155 (GRCm39)		probably null	Het
Daxx	T	C	17: 34,131,216 (GRCm39)	V381A	probably damaging	Het
Dhx37	T	A	5: 125,496,401 (GRCm39)	I714F	possibly damaging	Het
Dnah7b	T	C	1: 46,234,478 (GRCm39)	V1470A	probably damaging	Het
Efl1	T	C	7: 82,332,247 (GRCm39)	I297T	probably damaging	Het
Fnd3c2	A	T	X: 105,289,092 (GRCm39)	H442Q	probably damaging	Het
Glp2r	A	C	11: 67,630,992 (GRCm39)	V126G	possibly damaging	Het
Gm5699	G	T	1: 31,037,843 (GRCm39)		noncoding transcript	Het
Gpt2	A	G	8: 86,242,862 (GRCm39)	D298G	probably damaging	Het
Gse1	G	T	8: 121,302,001 (GRCm39)		probably benign	Het
Hand1	T	C	11: 57,722,420 (GRCm39)	T65A	probably benign	Het
Ints8	G	A	4: 11,208,834 (GRCm39)	Q955*	probably null	Het
Lrguk	C	T	6: 34,069,726 (GRCm39)	P534S	probably damaging	Het
Lrp6	A	G	6: 134,518,886 (GRCm39)	F60L	probably benign	Het
Mamld1	T	C	X: 70,162,258 (GRCm39)	I423T	possibly damaging	Het
Mrpl22	G	A	11: 58,063,888 (GRCm39)	S36N	possibly damaging	Het
Mug2	A	G	6: 122,049,712 (GRCm39)	E915G	probably damaging	Het
Oosp2	T	C	19: 11,628,847 (GRCm39)	T85A	probably benign	Het
Or5b94	T	C	19: 12,652,223 (GRCm39)	F218S	possibly damaging	Het
Or5p68	C	T	7: 107,945,813 (GRCm39)	R125Q	probably damaging	Het
Pde4c	T	A	8: 71,200,701 (GRCm39)		probably benign	Het
Pdxdc1	T	C	16: 13,693,945 (GRCm39)	E159G	possibly damaging	Het
Poln	T	C	5: 34,286,721 (GRCm39)	E149G	probably damaging	Het
Pou5f2	T	G	13: 78,174,024 (GRCm39)	L322R	probably damaging	Het
Ptges2	T	A	2: 32,287,719 (GRCm39)	I149N	probably damaging	Het
Pus7l	A	G	15: 94,427,369 (GRCm39)	V471A	possibly damaging	Het
Raet1e	A	T	10: 22,056,666 (GRCm39)	M81L	probably benign	Het
Sipa1l3	A	G	7: 29,098,956 (GRCm39)	S438P	probably damaging	Het
Skint5	T	A	4: 113,799,750 (GRCm39)	K126*	probably null	Het
Stfa2	T	C	16: 36,225,569 (GRCm39)	T37A	probably damaging	Het
Ttll12	A	G	15: 83,465,897 (GRCm39)	I433T	possibly damaging	Het
Vmn2r32	C	T	7: 7,467,116 (GRCm39)	G804D	probably damaging	Het
Zc3h14	A	G	12: 98,740,560 (GRCm39)	T84A	probably benign	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
IGL03149:Ppm1k	APN	6	57,501,759 (GRCm39)	missense	probably damaging	0.99
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

2015-04-16