Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03118:Ppm1f'

409879

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 #

IGL03118

Quality Score

Status

Chromosome

Chromosomal Location

16714333-16745228 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 16731942 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 131 (W131R)

Ref Sequence

ENSEMBL: ENSMUSP00000027373 (fasta)

Gene Model

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

AlphaFold

Q8CGA0

Predicted Effect

probably null
Transcript: ENSMUST00000027373
AA Change: W131R

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000027373
Gene: ENSMUSG00000026181
AA Change: W131R

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 null
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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	G	A	17: 24,619,424 (GRCm39)	G921S	probably benign	Het
Abca8b	T	C	11: 109,838,007 (GRCm39)	T1082A	possibly damaging	Het
B9d2	T	C	7: 25,380,901 (GRCm39)		probably null	Het
Bfsp1	T	C	2: 143,669,253 (GRCm39)	E442G	possibly damaging	Het
Bpifb5	C	T	2: 154,078,673 (GRCm39)		probably benign	Het
Ccl1	A	G	11: 82,068,896 (GRCm39)	I47T	probably damaging	Het
Cln3	T	C	7: 126,174,569 (GRCm39)	I285V	probably null	Het
Cyp4a12b	G	T	4: 115,290,173 (GRCm39)	R242I	possibly damaging	Het
Dcc	T	C	18: 71,553,344 (GRCm39)	T771A	probably benign	Het
Erbb4	T	C	1: 68,081,878 (GRCm39)	D1052G	probably benign	Het
Fcnb	T	C	2: 27,966,630 (GRCm39)	N301S	probably benign	Het
Gm28043	A	C	17: 29,853,705 (GRCm39)	E403A	probably damaging	Het
Gria4	A	G	9: 4,793,804 (GRCm39)		probably benign	Het
Ighv5-12	T	A	12: 113,666,198 (GRCm39)	M1L	probably benign	Het
Il17rd	A	G	14: 26,815,352 (GRCm39)		probably null	Het
Kcnn3	T	A	3: 89,574,468 (GRCm39)	L660Q	probably damaging	Het
Lcor	C	T	19: 41,546,808 (GRCm39)	P131S	probably damaging	Het
Leng1	T	C	7: 3,668,409 (GRCm39)	N13S	probably damaging	Het
Loxhd1	T	C	18: 77,468,160 (GRCm39)	V827A	probably damaging	Het
Mapk13	A	G	17: 28,996,709 (GRCm39)	Y208C	probably benign	Het
Mybpc3	T	C	2: 90,954,848 (GRCm39)	V453A	probably damaging	Het
Odam	T	C	5: 88,033,613 (GRCm39)	S15P	unknown	Het
Or11l3	A	T	11: 58,516,269 (GRCm39)	V201D	probably damaging	Het
Or8d1	A	T	9: 38,766,526 (GRCm39)	H56L	probably damaging	Het
Pcdhb19	T	C	18: 37,632,618 (GRCm39)		probably benign	Het
Per2	G	T	1: 91,372,341 (GRCm39)	Y244*	probably null	Het
Pik3ca	A	T	3: 32,514,084 (GRCm39)	I857F	probably damaging	Het
Pold1	T	A	7: 44,188,824 (GRCm39)	I447F	probably benign	Het
Ppp2r2c	A	G	5: 37,083,660 (GRCm39)	Y67C	probably damaging	Het
Psmb10	A	T	8: 106,663,532 (GRCm39)	H155Q	probably damaging	Het
Ptbp3	G	A	4: 59,501,470 (GRCm39)	A149V	probably benign	Het
Pygb	T	A	2: 150,662,731 (GRCm39)	V566E	probably benign	Het
Rictor	G	A	15: 6,788,999 (GRCm39)	R205Q	possibly damaging	Het
Ryr1	T	A	7: 28,715,211 (GRCm39)	R4638W	unknown	Het
Semp2l2a	C	T	8: 13,888,096 (GRCm39)		probably benign	Het
Septin3	G	A	15: 82,168,715 (GRCm39)		probably null	Het
Serpina3b	A	T	12: 104,097,313 (GRCm39)	D198V	probably benign	Het
Slc27a6	C	A	18: 58,689,815 (GRCm39)	H94N	probably benign	Het
Taf2	C	T	15: 54,915,559 (GRCm39)	V456M	probably damaging	Het
Tbpl2	T	C	2: 23,977,301 (GRCm39)	E238G	probably benign	Het
Ttn	C	T	2: 76,584,551 (GRCm39)	V20440I	possibly damaging	Het
Zfp638	T	A	6: 83,912,000 (GRCm39)		probably benign	Het
Zfp865	T	C	7: 5,037,644 (GRCm39)		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
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
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

2016-08-02