Incidental Mutation 'IGL01024:Ppm1f'
ID 54034
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ppm1f
Ensembl Gene ENSMUSG00000026181
Gene Name protein phosphatase 1F (PP2C domain containing)
Synonyms 4933427B07Rik, 1110021B16Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock # IGL01024
Quality Score
Chromosome 16
Chromosomal Location 16896469-16927364 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to A at 16923769 bp (GRCm38)
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

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
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810055G02Rik T C 19: 3,717,040 V209A probably benign Het
Abca6 T A 11: 110,197,142 Y1053F probably benign Het
Acot12 C T 13: 91,781,211 Q386* probably null Het
Adamts16 A G 13: 70,795,484 V336A probably benign Het
Ankrd49 A G 9: 14,782,803 F23L probably damaging Het
Aspm A T 1: 139,478,124 H1583L possibly damaging Het
Atp6v0a1 A G 11: 101,048,439 I677V probably benign Het
BC005561 T G 5: 104,521,746 V1378G probably benign Het
Brinp1 A T 4: 68,762,494 W600R probably damaging Het
C87977 A T 4: 144,208,475 I232K possibly damaging Het
Ccdc185 T C 1: 182,747,423 E567G possibly damaging Het
Clip2 T C 5: 134,510,212 D445G probably damaging Het
Elp5 T C 11: 69,968,422 probably benign Het
Gm9376 A G 14: 118,267,158 M1V probably null Het
Gtf2a1l A G 17: 88,671,291 K40R probably damaging Het
Hdc A G 2: 126,603,846 V246A probably benign Het
Hectd2 T A 19: 36,606,393 F479L probably damaging Het
Hipk1 G T 3: 103,760,636 N538K probably benign Het
Kif27 T A 13: 58,288,201 E1259D possibly damaging Het
Klhdc2 T A 12: 69,305,836 N256K probably benign Het
Krt71 C T 15: 101,736,674 A401T probably damaging Het
Mapk3 A T 7: 126,764,774 K312* probably null Het
Med12l G T 3: 59,073,341 S365I probably damaging Het
Mgam A G 6: 40,643,010 K11R probably benign Het
Nox3 A T 17: 3,683,015 I187N probably damaging Het
Nudcd1 T A 15: 44,420,826 M55L probably benign Het
Olfr1312 A T 2: 112,042,371 F220L probably benign Het
Olfr43 A T 11: 74,206,655 L187Q probably damaging Het
Olfr983 A G 9: 40,092,733 S78P probably damaging Het
Pard6g T C 18: 80,079,822 probably benign Het
Pbrm1 G A 14: 31,052,260 R461H probably damaging Het
Ppp1r16b C T 2: 158,740,816 probably benign Het
Prom2 T C 2: 127,541,139 N61S probably benign Het
Psmc2 T C 5: 21,801,198 probably benign Het
Psme2 A G 14: 55,588,436 probably benign Het
Ptprc T C 1: 138,080,912 H655R probably damaging Het
Pxdn A C 12: 29,987,099 N292T probably damaging Het
Rapgef2 T C 3: 79,070,138 I1301V probably benign Het
Rnase11 T C 14: 51,049,864 I78V probably benign Het
Rpl41 A G 10: 128,548,377 probably benign Het
Sgf29 G A 7: 126,664,931 R56Q possibly damaging Het
Sis A G 3: 72,911,876 L1449S probably damaging Het
Slc34a2 T A 5: 53,067,630 V371D possibly damaging Het
Son C A 16: 91,655,910 T515K probably damaging Het
Tbx15 A T 3: 99,316,246 D250V probably damaging Het
Tmem171 T A 13: 98,686,518 probably null Het
Ugt2b36 C T 5: 87,080,869 probably null Het
Vill G A 9: 119,070,350 probably null Het
Vmn2r22 A G 6: 123,638,053 F193L probably damaging Het
Vmn2r95 C T 17: 18,452,328 probably benign Het
Vstm2a T A 11: 16,281,874 V223D possibly damaging Het
Other mutations in Ppm1f
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00491:Ppm1f APN 16 16923913 missense probably benign 0.03
IGL00495:Ppm1f APN 16 16910971 missense possibly damaging 0.87
IGL02076:Ppm1f APN 16 16914171 missense possibly damaging 0.93
IGL02332:Ppm1f APN 16 16914087 missense possibly damaging 0.72
IGL02422:Ppm1f APN 16 16917716 missense probably damaging 0.99
IGL02936:Ppm1f APN 16 16915236 missense probably damaging 1.00
IGL03118:Ppm1f APN 16 16914078 missense probably null 0.03
R0348:Ppm1f UTSW 16 16903390 start codon destroyed probably null 0.71
R0621:Ppm1f UTSW 16 16915308 missense probably benign 0.00
R0970:Ppm1f UTSW 16 16903593 critical splice donor site probably null
R1785:Ppm1f UTSW 16 16910970 missense probably benign
R1812:Ppm1f UTSW 16 16917787 missense probably damaging 1.00
R1988:Ppm1f UTSW 16 16923666 missense probably damaging 0.98
R2080:Ppm1f UTSW 16 16923880 missense possibly damaging 0.50
R3687:Ppm1f UTSW 16 16923883 missense probably damaging 0.96
R5456:Ppm1f UTSW 16 16923746 missense probably damaging 0.99
R7162:Ppm1f UTSW 16 16914193 missense probably damaging 1.00
R7290:Ppm1f UTSW 16 16910955 missense probably benign
R7391:Ppm1f UTSW 16 16914234 missense probably benign 0.04
R8492:Ppm1f UTSW 16 16915178 missense probably damaging 1.00
Posted On 2013-06-28