Incidental Mutation 'R5456:Ppm1f'
ID 432771
Institutional Source Beutler Lab
Gene Symbol Ppm1f
Ensembl Gene ENSMUSG00000026181
Gene Name protein phosphatase 1F (PP2C domain containing)
Synonyms 4933427B07Rik, 1110021B16Rik
MMRRC Submission 043019-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5456 (G1)
Quality Score 225
Status Not validated
Chromosome 16
Chromosomal Location 16896469-16927364 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 16923746 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 361 (D361E)
Ref Sequence ENSEMBL: ENSMUSP00000027373 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027373]
AlphaFold Q8CGA0
Predicted Effect probably damaging
Transcript: ENSMUST00000027373
AA Change: D361E

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000027373
Gene: ENSMUSG00000026181
AA Change: D361E

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
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot12 A G 13: 91,741,640 (GRCm38) D37G probably damaging Het
Adcy5 T C 16: 35,298,522 (GRCm38) F1081S probably damaging Het
Apmap T A 2: 150,590,069 (GRCm38) I128L probably benign Het
Arhgap12 G A 18: 6,112,170 (GRCm38) Q65* probably null Het
Baat C T 4: 49,502,949 (GRCm38) V58I possibly damaging Het
Bco2 T C 9: 50,545,344 (GRCm38) probably null Het
Bend3 T C 10: 43,510,546 (GRCm38) Y312H probably damaging Het
Btnl2 A T 17: 34,363,321 (GRCm38) Y287F probably benign Het
Cd22 T C 7: 30,876,039 (GRCm38) I193V probably benign Het
Commd3 A G 2: 18,674,157 (GRCm38) E95G probably damaging Het
Dcbld1 A G 10: 52,314,390 (GRCm38) D215G probably damaging Het
Elfn1 A G 5: 139,972,816 (GRCm38) Y525C probably damaging Het
Fam83b T C 9: 76,492,595 (GRCm38) T409A probably benign Het
Fshr T A 17: 88,986,348 (GRCm38) I301F probably benign Het
Hemgn C T 4: 46,396,571 (GRCm38) V222M probably damaging Het
Igsf3 C T 3: 101,427,221 (GRCm38) H205Y probably benign Het
Mfsd1 T C 3: 67,589,833 (GRCm38) I147T probably benign Het
Mslnl A G 17: 25,743,159 (GRCm38) D177G probably damaging Het
Nat2 G A 8: 67,501,573 (GRCm38) V112I probably damaging Het
Olfr1257 G A 2: 89,881,258 (GRCm38) G144E probably damaging Het
Olfr284 G A 15: 98,340,365 (GRCm38) A208V probably benign Het
Pabpc1l T C 2: 164,027,660 (GRCm38) S127P probably damaging Het
Poln A T 5: 34,007,442 (GRCm38) L845Q possibly damaging Het
Rapgef5 T A 12: 117,728,646 (GRCm38) probably null Het
Rarb G A 14: 16,436,843 (GRCm38) T226I probably damaging Het
Sel1l3 T C 5: 53,200,036 (GRCm38) K205E probably benign Het
Sh3glb1 T A 3: 144,709,353 (GRCm38) I75L probably benign Het
Srgap1 G A 10: 121,869,811 (GRCm38) S236L probably benign Het
Tmco3 A G 8: 13,319,815 (GRCm38) Y609C probably damaging Het
Trhde A G 10: 114,486,760 (GRCm38) V712A possibly damaging Het
Trim13 A G 14: 61,605,074 (GRCm38) D180G possibly damaging Het
Tst T C 15: 78,399,958 (GRCm38) E223G probably damaging Het
Umodl1 A G 17: 30,982,289 (GRCm38) I397M probably benign Het
Usp31 T C 7: 121,670,277 (GRCm38) D481G probably damaging Het
Vps13c T A 9: 67,927,447 (GRCm38) M1686K possibly damaging Het
Wdr83 T C 8: 85,080,208 (GRCm38) H81R probably benign Het
Other mutations in Ppm1f
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00491:Ppm1f APN 16 16,923,913 (GRCm38) missense probably benign 0.03
IGL00495:Ppm1f APN 16 16,910,971 (GRCm38) missense possibly damaging 0.87
IGL01024:Ppm1f APN 16 16,923,769 (GRCm38) missense probably benign 0.05
IGL02076:Ppm1f APN 16 16,914,171 (GRCm38) missense possibly damaging 0.93
IGL02332:Ppm1f APN 16 16,914,087 (GRCm38) missense possibly damaging 0.72
IGL02422:Ppm1f APN 16 16,917,716 (GRCm38) missense probably damaging 0.99
IGL02936:Ppm1f APN 16 16,915,236 (GRCm38) missense probably damaging 1.00
IGL03118:Ppm1f APN 16 16,914,078 (GRCm38) missense probably null 0.03
R0348:Ppm1f UTSW 16 16,903,390 (GRCm38) start codon destroyed probably null 0.71
R0621:Ppm1f UTSW 16 16,915,308 (GRCm38) missense probably benign 0.00
R0970:Ppm1f UTSW 16 16,903,593 (GRCm38) critical splice donor site probably null
R1785:Ppm1f UTSW 16 16,910,970 (GRCm38) missense probably benign
R1812:Ppm1f UTSW 16 16,917,787 (GRCm38) missense probably damaging 1.00
R1988:Ppm1f UTSW 16 16,923,666 (GRCm38) missense probably damaging 0.98
R2080:Ppm1f UTSW 16 16,923,880 (GRCm38) missense possibly damaging 0.50
R3687:Ppm1f UTSW 16 16,923,883 (GRCm38) missense probably damaging 0.96
R7162:Ppm1f UTSW 16 16,914,193 (GRCm38) missense probably damaging 1.00
R7290:Ppm1f UTSW 16 16,910,955 (GRCm38) missense probably benign
R7391:Ppm1f UTSW 16 16,914,234 (GRCm38) missense probably benign 0.04
R8492:Ppm1f UTSW 16 16,915,178 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2016-10-06