Incidental Mutation 'IGL02076:Ppm1f'
ID 185990
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 # IGL02076
Quality Score
Status
Chromosome 16
Chromosomal Location 16714333-16745228 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 16732035 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Proline at position 162 (T162P)
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: T162P

PolyPhen 2 Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000027373
Gene: ENSMUSG00000026181
AA Change: T162P

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
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: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam22 T C 5: 8,186,900 (GRCm39) Y407C probably damaging Het
Capn5 T A 7: 97,780,950 (GRCm39) K276* probably null Het
Cct4 T C 11: 22,952,394 (GRCm39) V495A probably damaging Het
Dapk3 A G 10: 81,026,131 (GRCm39) K141E probably damaging Het
Dnah2 T C 11: 69,313,385 (GRCm39) N4264S probably damaging Het
Dok1 A G 6: 83,009,812 (GRCm39) L99P probably damaging Het
Ebf3 A G 7: 136,833,030 (GRCm39) V215A possibly damaging Het
Efnb2 A G 8: 8,710,488 (GRCm39) S43P probably benign Het
Jhy G A 9: 40,828,674 (GRCm39) Q411* probably null Het
Krt73 G A 15: 101,708,370 (GRCm39) T229I probably damaging Het
Mroh8 A G 2: 157,113,882 (GRCm39) probably null Het
Olfm1 A G 2: 28,112,637 (GRCm39) T223A probably damaging Het
Oprk1 T A 1: 5,672,512 (GRCm39) D216E probably damaging Het
Or4b1d T A 2: 89,969,159 (GRCm39) E108V probably damaging Het
Or8g23 A G 9: 38,971,881 (GRCm39) L27P probably damaging Het
Pim1 T A 17: 29,712,777 (GRCm39) I230N probably damaging Het
Rbbp8 T C 18: 11,838,876 (GRCm39) Y186H probably damaging Het
Sema4a C T 3: 88,357,829 (GRCm39) R225H probably damaging Het
Slc15a2 A C 16: 36,582,743 (GRCm39) F215C probably damaging Het
Slc25a1 A G 16: 17,745,490 (GRCm39) C41R possibly damaging Het
Stil C A 4: 114,880,834 (GRCm39) H459Q probably benign Het
Tbc1d32 A G 10: 55,964,499 (GRCm39) I900T possibly damaging Het
Tmem33 T C 5: 67,443,446 (GRCm39) F208L probably damaging Het
Utp25 T C 1: 192,812,367 (GRCm39) H31R probably damaging Het
Vmn2r72 A G 7: 85,387,575 (GRCm39) V663A probably damaging Het
Other mutations in Ppm1f
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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 2014-05-07