Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01024:Ppm1f'

54034

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ppm1f

Ensembl Gene

ENSMUSG00000026181

Gene Name

protein phosphatase 1F (PP2C domain containing)

Synonyms

1110021B16Rik, 4933427B07Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01024

Quality Score

Status

Chromosome

Chromosomal Location

16714333-16745228 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 16741633 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 369 (T369K)

Ref Sequence

ENSEMBL: ENSMUSP00000027373 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027373]

AlphaFold

Q8CGA0

Predicted Effect

probably benign
Transcript: ENSMUST00000027373
AA Change: T369K

PolyPhen 2 Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000027373
Gene: ENSMUSG00000026181
AA Change: T369K

Domain	Start	End	E-Value	Type
Blast:PP2Cc	25	97	1e-16	BLAST
low complexity region	99	110	N/A	INTRINSIC
PP2Cc	141	408	3.14e-79	SMART
PP2C_SIG	168	410	5.13e-5	SMART

Coding Region Coverage

Validation Efficiency

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 member of the PP2C family of Ser/Thr protein phosphatases. PP2C family members are known to be negative regulators of cell stress response pathways. This phosphatase can interact with Rho guanine nucleotide exchange factors (PIX), and thus block the effects of p21-activated kinase 1 (PAK), a protein kinase mediating biological effects downstream of Rho GTPases. Calcium/calmodulin-dependent protein kinase II gamma (CAMK2G/CAMK-II) is found to be one of the substrates of this phosphatase. The overexpression of this phosphatase or CAMK2G has been shown to mediate caspase-dependent apoptosis. An alternatively spliced transcript variant has been identified, but its full-length nature has not been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a targeted mutation are not detected at weaning. Mice heterozygous for a targeted mutation display hyperactivity and an increase in pain threshold. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810055G02Rik	T	C	19: 3,767,040 (GRCm39)	V209A	probably benign	Het
Abca6	T	A	11: 110,087,968 (GRCm39)	Y1053F	probably benign	Het
Acot12	C	T	13: 91,929,330 (GRCm39)	Q386*	probably null	Het
Adamts16	A	G	13: 70,943,603 (GRCm39)	V336A	probably benign	Het
Ankrd49	A	G	9: 14,694,099 (GRCm39)	F23L	probably damaging	Het
Aspm	A	T	1: 139,405,862 (GRCm39)	H1583L	possibly damaging	Het
Atp6v0a1	A	G	11: 100,939,265 (GRCm39)	I677V	probably benign	Het
Brinp1	A	T	4: 68,680,731 (GRCm39)	W600R	probably damaging	Het
Ccdc185	T	C	1: 182,574,988 (GRCm39)	E567G	possibly damaging	Het
Clip2	T	C	5: 134,539,066 (GRCm39)	D445G	probably damaging	Het
Elp5	T	C	11: 69,859,248 (GRCm39)		probably benign	Het
Gm9376	A	G	14: 118,504,570 (GRCm39)	M1V	probably null	Het
Gtf2a1l	A	G	17: 88,978,719 (GRCm39)	K40R	probably damaging	Het
Hdc	A	G	2: 126,445,766 (GRCm39)	V246A	probably benign	Het
Hectd2	T	A	19: 36,583,793 (GRCm39)	F479L	probably damaging	Het
Hipk1	G	T	3: 103,667,952 (GRCm39)	N538K	probably benign	Het
Kif27	T	A	13: 58,436,015 (GRCm39)	E1259D	possibly damaging	Het
Klhdc2	T	A	12: 69,352,610 (GRCm39)	N256K	probably benign	Het
Krt71	C	T	15: 101,645,109 (GRCm39)	A401T	probably damaging	Het
Mapk3	A	T	7: 126,363,946 (GRCm39)	K312*	probably null	Het
Med12l	G	T	3: 58,980,762 (GRCm39)	S365I	probably damaging	Het
Mgam	A	G	6: 40,619,944 (GRCm39)	K11R	probably benign	Het
Nox3	A	T	17: 3,733,290 (GRCm39)	I187N	probably damaging	Het
Nudcd1	T	A	15: 44,284,222 (GRCm39)	M55L	probably benign	Het
Or1a1b	A	T	11: 74,097,481 (GRCm39)	L187Q	probably damaging	Het
Or4f59	A	T	2: 111,872,716 (GRCm39)	F220L	probably benign	Het
Or8b57	A	G	9: 40,004,029 (GRCm39)	S78P	probably damaging	Het
Pard6g	T	C	18: 80,123,037 (GRCm39)		probably benign	Het
Pbrm1	G	A	14: 30,774,217 (GRCm39)	R461H	probably damaging	Het
Ppp1r16b	C	T	2: 158,582,736 (GRCm39)		probably benign	Het
Pramel29	A	T	4: 143,935,045 (GRCm39)	I232K	possibly damaging	Het
Prom2	T	C	2: 127,383,059 (GRCm39)	N61S	probably benign	Het
Psmc2	T	C	5: 22,006,196 (GRCm39)		probably benign	Het
Psme2	A	G	14: 55,825,893 (GRCm39)		probably benign	Het
Ptprc	T	C	1: 138,008,650 (GRCm39)	H655R	probably damaging	Het
Pxdn	A	C	12: 30,037,098 (GRCm39)	N292T	probably damaging	Het
Rapgef2	T	C	3: 78,977,445 (GRCm39)	I1301V	probably benign	Het
Rnase11	T	C	14: 51,287,321 (GRCm39)	I78V	probably benign	Het
Rpl41	A	G	10: 128,384,246 (GRCm39)		probably benign	Het
Sgf29	G	A	7: 126,264,103 (GRCm39)	R56Q	possibly damaging	Het
Sis	A	G	3: 72,819,209 (GRCm39)	L1449S	probably damaging	Het
Slc34a2	T	A	5: 53,224,972 (GRCm39)	V371D	possibly damaging	Het
Son	C	A	16: 91,452,798 (GRCm39)	T515K	probably damaging	Het
Tbx15	A	T	3: 99,223,562 (GRCm39)	D250V	probably damaging	Het
Thoc2l	T	G	5: 104,669,612 (GRCm39)	V1378G	probably benign	Het
Tmem171	T	A	13: 98,823,026 (GRCm39)		probably null	Het
Ugt2b36	C	T	5: 87,228,728 (GRCm39)		probably null	Het
Vill	G	A	9: 118,899,418 (GRCm39)		probably null	Het
Vmn2r22	A	G	6: 123,615,012 (GRCm39)	F193L	probably damaging	Het
Vmn2r95	C	T	17: 18,672,590 (GRCm39)		probably benign	Het
Vstm2a	T	A	11: 16,231,874 (GRCm39)	V223D	possibly damaging	Het

Other mutations in Ppm1f

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00491:Ppm1f	APN	16	16,741,777 (GRCm39)	missense	probably benign	0.03
IGL00495:Ppm1f	APN	16	16,728,835 (GRCm39)	missense	possibly damaging	0.87
IGL02076:Ppm1f	APN	16	16,732,035 (GRCm39)	missense	possibly damaging	0.93
IGL02332:Ppm1f	APN	16	16,731,951 (GRCm39)	missense	possibly damaging	0.72
IGL02422:Ppm1f	APN	16	16,735,580 (GRCm39)	missense	probably damaging	0.99
IGL02936:Ppm1f	APN	16	16,733,100 (GRCm39)	missense	probably damaging	1.00
IGL03118:Ppm1f	APN	16	16,731,942 (GRCm39)	missense	probably null	0.03
R0348:Ppm1f	UTSW	16	16,721,254 (GRCm39)	start codon destroyed	probably null	0.71
R0621:Ppm1f	UTSW	16	16,733,172 (GRCm39)	missense	probably benign	0.00
R0970:Ppm1f	UTSW	16	16,721,457 (GRCm39)	critical splice donor site	probably null
R1785:Ppm1f	UTSW	16	16,728,834 (GRCm39)	missense	probably benign
R1812:Ppm1f	UTSW	16	16,735,651 (GRCm39)	missense	probably damaging	1.00
R1988:Ppm1f	UTSW	16	16,741,530 (GRCm39)	missense	probably damaging	0.98
R2080:Ppm1f	UTSW	16	16,741,744 (GRCm39)	missense	possibly damaging	0.50
R3687:Ppm1f	UTSW	16	16,741,747 (GRCm39)	missense	probably damaging	0.96
R5456:Ppm1f	UTSW	16	16,741,610 (GRCm39)	missense	probably damaging	0.99
R7162:Ppm1f	UTSW	16	16,732,057 (GRCm39)	missense	probably damaging	1.00
R7290:Ppm1f	UTSW	16	16,728,819 (GRCm39)	missense	probably benign
R7391:Ppm1f	UTSW	16	16,732,098 (GRCm39)	missense	probably benign	0.04
R8492:Ppm1f	UTSW	16	16,733,042 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-06-28