Mutagenetix > Incidental Mutation

Incidental Mutation 'R8834:Ppm1k'

674028

Institutional Source

Beutler Lab

Gene Symbol

Ppm1k

Ensembl Gene

ENSMUSG00000037826

Gene Name

protein phosphatase 1K (PP2C domain containing)

Synonyms

PP2Cm, 2900063A19Rik, A930026L03Rik

MMRRC Submission

068662-MU

Accession Numbers

Essential gene?

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

Stock #

R8834 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

57483487-57512453 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 57502023 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 47 (C47R)

Ref Sequence

ENSEMBL: ENSMUSP00000041395 (fasta)

Gene Model

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

AlphaFold

Q8BXN7

Predicted Effect

probably benign
Transcript: ENSMUST00000042766
AA Change: C47R

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000041395
Gene: ENSMUSG00000037826
AA Change: C47R

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

Meta Mutation Damage Score

0.0845

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (44/44)

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
Abca14	A	G	7: 119,877,372 (GRCm39)	T1007A	probably benign	Het
Adcy6	A	G	15: 98,498,922 (GRCm39)	L293P	possibly damaging	Het
Cacna2d1	T	A	5: 16,471,735 (GRCm39)	V260E	possibly damaging	Het
Capn3	T	A	2: 120,294,534 (GRCm39)	F61I	probably damaging	Het
Cdh9	A	G	15: 16,850,964 (GRCm39)	S578G	probably damaging	Het
Cog4	A	G	8: 111,608,049 (GRCm39)	Y714C	probably damaging	Het
Dnah14	T	G	1: 181,444,315 (GRCm39)	F542V	possibly damaging	Het
Dock8	T	C	19: 25,140,834 (GRCm39)	V1350A	probably benign	Het
Eps8	A	G	6: 137,504,306 (GRCm39)		probably benign	Het
Fat3	C	T	9: 15,942,493 (GRCm39)	G1293E	probably damaging	Het
Fnip1	T	C	11: 54,395,581 (GRCm39)	V985A	possibly damaging	Het
Frem1	T	C	4: 82,922,610 (GRCm39)	D397G	probably damaging	Het
Gan	C	G	8: 117,885,031 (GRCm39)	P53R		Het
Gcc2	T	C	10: 58,121,867 (GRCm39)		probably null	Het
Glb1l2	C	T	9: 26,689,314 (GRCm39)		probably null	Het
Gm973	T	C	1: 59,563,820 (GRCm39)	F2L		Het
Heatr5a	A	G	12: 51,956,739 (GRCm39)		probably null	Het
Kifc2	T	A	15: 76,551,250 (GRCm39)	H681Q	probably damaging	Het
Krt16	T	A	11: 100,139,236 (GRCm39)	S161C	probably damaging	Het
Lrrc3b	A	G	14: 15,358,562 (GRCm38)	C15R	possibly damaging	Het
Lrrc66	C	G	5: 73,765,928 (GRCm39)	A372P	possibly damaging	Het
Ly75	C	T	2: 60,161,433 (GRCm39)	R884H	probably benign	Het
Map2k6	T	A	11: 110,383,419 (GRCm39)	C109*	probably null	Het
Mapk9	C	T	11: 49,774,010 (GRCm39)	S389L	probably damaging	Het
Mier2	C	T	10: 79,386,293 (GRCm39)	G57D	unknown	Het
Mis18bp1	A	T	12: 65,208,419 (GRCm39)	M98K	probably benign	Het
Mrtfa	A	G	15: 80,904,511 (GRCm39)	L196P	probably benign	Het
Or1e17	T	C	11: 73,831,164 (GRCm39)	F31L	possibly damaging	Het
Pcsk7	A	G	9: 45,830,589 (GRCm39)	S456G	possibly damaging	Het
Phf12	T	A	11: 77,897,608 (GRCm39)	C102S	probably damaging	Het
Rgs10	A	G	7: 127,990,809 (GRCm39)	I93T	probably damaging	Het
Ror2	CCCTCCTCCTCCTCCTC	CCCTCCTCCTCCTC	13: 53,264,338 (GRCm39)		probably benign	Het
Rusc2	T	A	4: 43,416,431 (GRCm39)	F579Y	possibly damaging	Het
Selplg	G	A	5: 113,957,691 (GRCm39)	S205L	possibly damaging	Het
Sh3gl3	T	C	7: 81,955,999 (GRCm39)	V109A	possibly damaging	Het
Tanc2	T	C	11: 105,807,845 (GRCm39)	S336P		Het
Tlr2	C	A	3: 83,746,020 (GRCm39)	R21L	probably benign	Het
Trpa1	C	T	1: 14,963,528 (GRCm39)	V565I	possibly damaging	Het
Ubqln1	A	T	13: 58,331,058 (GRCm39)	S390T	probably damaging	Het
Ubr3	T	C	2: 69,833,785 (GRCm39)	V1514A	probably benign	Het
Uchl5	A	T	1: 143,661,968 (GRCm39)	K81*	probably null	Het
Unc13b	T	C	4: 43,175,954 (GRCm39)	F2261L	unknown	Het
Usp12	T	A	5: 146,691,327 (GRCm39)	E142D	probably benign	Het
V1ra8	A	T	6: 90,180,622 (GRCm39)	D275V	unknown	Het
Zfp804a	A	G	2: 82,089,441 (GRCm39)	H1090R	possibly damaging	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
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
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

Predicted Primers

PCR Primer
(F):5'- AGCTGTGCAAACCCAAATCG -3'
(R):5'- TCTGCACGGAATACTATTATTGCTC -3'

Sequencing Primer
(F):5'- TGTGCAAACCCAAATCGATCTTCG -3'
(R):5'- CTATTTGTCTTTTCCTGTGACTGG -3'

Posted On

2021-07-15