Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02332:Ppm1f'

288741

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 #

IGL02332

Quality Score

Status

Chromosome

Chromosomal Location

16714333-16745228 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 16731951 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 134 (C134S)

Ref Sequence

ENSEMBL: ENSMUSP00000027373 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027373] [ENSMUST00000232247]

AlphaFold

Q8CGA0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000027373
AA Change: C134S

PolyPhen 2 Score 0.722 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000027373
Gene: ENSMUSG00000026181
AA Change: C134S

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145978

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231277

Predicted Effect

probably benign
Transcript: ENSMUST00000232247

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700018B24Rik	A	G	3: 48,563,323 (GRCm39)		noncoding transcript	Het
Abca13	A	T	11: 9,241,482 (GRCm39)	Y1115F	probably damaging	Het
Adam29	T	A	8: 56,324,775 (GRCm39)	I560F	probably damaging	Het
Bivm	T	C	1: 44,167,880 (GRCm39)		probably benign	Het
Brinp1	C	A	4: 68,823,121 (GRCm39)	R24L	probably benign	Het
Cnga1	A	G	5: 72,761,829 (GRCm39)	Y562H	probably damaging	Het
Cr2	C	A	1: 194,842,630 (GRCm39)	Q256H	probably benign	Het
Dhcr7	A	T	7: 143,396,865 (GRCm39)	N119I	probably damaging	Het
Dio1	A	T	4: 107,150,978 (GRCm39)	Y169N	probably damaging	Het
Dmbt1	C	T	7: 130,668,343 (GRCm39)		probably benign	Het
Eogt	T	G	6: 97,102,566 (GRCm39)	H249P	probably damaging	Het
Ermard	A	C	17: 15,210,807 (GRCm39)		probably null	Het
Exoc4	T	C	6: 33,226,175 (GRCm39)		probably null	Het
Fxr2	G	T	11: 69,540,664 (GRCm39)		probably null	Het
Glyr1	G	T	16: 4,836,817 (GRCm39)	T443N	probably damaging	Het
Gm14137	T	G	2: 119,005,807 (GRCm39)	L122R	probably damaging	Het
Gm4845	C	A	1: 141,184,335 (GRCm39)		noncoding transcript	Het
Gm8258	A	G	5: 104,923,768 (GRCm39)		noncoding transcript	Het
Gmps	G	A	3: 63,897,990 (GRCm39)	R258H	probably benign	Het
Itga6	T	G	2: 71,668,717 (GRCm39)	L552R	possibly damaging	Het
Itgam	T	A	7: 127,684,846 (GRCm39)		probably null	Het
Itgb5	G	T	16: 33,740,500 (GRCm39)	E224*	probably null	Het
Itih4	C	A	14: 30,609,817 (GRCm39)	A49D	probably damaging	Het
Itpr2	A	T	6: 146,328,040 (GRCm39)	N64K	probably damaging	Het
Moap1	T	C	12: 102,709,066 (GRCm39)	Y161C	probably benign	Het
Mst1r	G	T	9: 107,785,025 (GRCm39)	G228*	probably null	Het
Myo1g	T	C	11: 6,470,766 (GRCm39)	D30G	possibly damaging	Het
Ndn	T	A	7: 61,998,573 (GRCm39)	C140S	probably damaging	Het
Nek5	G	T	8: 22,585,277 (GRCm39)	Q367K	probably benign	Het
Nrdc	A	T	4: 108,858,185 (GRCm39)	R52S	probably damaging	Het
Nup133	A	T	8: 124,634,571 (GRCm39)	L1007Q	probably damaging	Het
Or51k2	T	C	7: 103,596,127 (GRCm39)	M118T	probably damaging	Het
Or5be3	T	C	2: 86,864,556 (GRCm39)	D3G	probably benign	Het
Or5d47	A	T	2: 87,804,409 (GRCm39)	L200Q	probably damaging	Het
P2rx2	T	C	5: 110,489,671 (GRCm39)	S116G	probably benign	Het
Pcdhb13	G	A	18: 37,576,635 (GRCm39)	V338M	probably benign	Het
Pdcl2	A	T	5: 76,466,982 (GRCm39)	Y70*	probably null	Het
Ppm1e	T	C	11: 87,122,568 (GRCm39)	H463R	probably benign	Het
Ppp2r3d	A	G	9: 101,057,602 (GRCm39)	F180L	possibly damaging	Het
Pxn	A	G	5: 115,682,985 (GRCm39)	S96G	probably benign	Het
Rasa4	G	T	5: 136,124,453 (GRCm39)	Q167H	probably benign	Het
Rfx8	T	C	1: 39,757,640 (GRCm39)	I43V	possibly damaging	Het
Sez6	C	T	11: 77,845,568 (GRCm39)		probably benign	Het
Slc39a6	A	T	18: 24,722,880 (GRCm39)	D473E	probably benign	Het
Spocd1	A	G	4: 129,842,885 (GRCm39)	D68G	probably damaging	Het
Syt13	T	C	2: 92,771,149 (GRCm39)	F79L	probably benign	Het
Tas2r103	A	T	6: 133,013,475 (GRCm39)	M197K	probably benign	Het
Tbrg4	A	G	11: 6,568,492 (GRCm39)	V429A	probably damaging	Het
Tuft1	A	C	3: 94,523,075 (GRCm39)		probably null	Het
Uqcrc1	A	G	9: 108,776,937 (GRCm39)	T80A	probably damaging	Het
Vps18	A	G	2: 119,124,291 (GRCm39)	N406S	probably benign	Het
Xrn2	T	A	2: 146,868,510 (GRCm39)	W188R	probably damaging	Het
Zzef1	T	G	11: 72,807,335 (GRCm39)	S2738A	probably benign	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
IGL01024:Ppm1f	APN	16	16,741,633 (GRCm39)	missense	probably benign	0.05
IGL02076:Ppm1f	APN	16	16,732,035 (GRCm39)	missense	possibly damaging	0.93
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

2015-04-16