Incidental Mutation 'IGL00491:Ppm1f'
ID 13119
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 # IGL00491
Quality Score
Status
Chromosome 16
Chromosomal Location 16896469-16927364 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 16923913 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 417 (L417P)
Ref Sequence ENSEMBL: ENSMUSP00000027373 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027373]
AlphaFold Q8CGA0
Predicted Effect probably benign
Transcript: ENSMUST00000027373
AA Change: L417P

PolyPhen 2 Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000027373
Gene: ENSMUSG00000026181
AA Change: L417P

DomainStartEndE-ValueType
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: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts20 G T 15: 94,273,232 S1870Y possibly damaging Het
Bcorl1 T G X: 48,406,042 V1730G probably damaging Het
Ccdc7a A G 8: 129,026,754 probably benign Het
Col13a1 T A 10: 61,864,005 probably null Het
Dgkq A G 5: 108,654,582 S417P possibly damaging Het
Dnah1 A G 14: 31,261,839 Y4016H probably damaging Het
Dnajc1 A G 2: 18,308,902 V136A possibly damaging Het
Fcgbp A G 7: 28,093,402 T944A probably damaging Het
Gm10351 A T 7: 43,099,793 noncoding transcript Het
Mettl9 T A 7: 121,052,113 V17E probably damaging Het
Msh5 A G 17: 35,030,730 V613A probably damaging Het
Nup54 T A 5: 92,417,485 I458L probably benign Het
Oxct1 A G 15: 4,096,514 N365D probably damaging Het
Patl1 T A 19: 11,929,887 N378K probably benign Het
Plcl1 T C 1: 55,713,498 probably null Het
Polk A T 13: 96,496,760 D258E probably benign Het
Rnf133 T C 6: 23,649,256 I225V probably benign Het
Robo4 A T 9: 37,405,935 K463N possibly damaging Het
Slc12a2 T A 18: 57,936,405 D1019E probably damaging Het
Spock1 C A 13: 57,556,806 R116S possibly damaging Het
Stambp G T 6: 83,556,298 L328I probably damaging Het
Tdrd7 T C 4: 46,010,889 C598R probably damaging Het
Tmem87a A G 2: 120,379,780 probably benign Het
Tpra1 A G 6: 88,910,408 probably benign Het
Vps13c A G 9: 67,893,136 E544G probably damaging Het
Other mutations in Ppm1f
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00495:Ppm1f APN 16 16910971 missense possibly damaging 0.87
IGL01024:Ppm1f APN 16 16923769 missense probably benign 0.05
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 2012-12-06