Incidental Mutation 'R5738:Ppm1b'
ID 444651
Institutional Source Beutler Lab
Gene Symbol Ppm1b
Ensembl Gene ENSMUSG00000061130
Gene Name protein phosphatase 1B, magnesium dependent, beta isoform
Synonyms PP2CB
MMRRC Submission 043350-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5738 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 84956741-85023991 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 84993946 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 85 (F85L)
Ref Sequence ENSEMBL: ENSMUSP00000107926 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080217] [ENSMUST00000112304] [ENSMUST00000112305] [ENSMUST00000112307]
AlphaFold P36993
Predicted Effect probably benign
Transcript: ENSMUST00000080217
AA Change: F85L

PolyPhen 2 Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000079107
Gene: ENSMUSG00000061130
AA Change: F85L

DomainStartEndE-ValueType
PP2Cc 13 293 1.57e-97 SMART
PP2C_SIG 38 295 2.6e-1 SMART
Blast:PP2Cc 296 341 9e-16 BLAST
low complexity region 424 446 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000112304
AA Change: F85L

PolyPhen 2 Score 0.136 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000107923
Gene: ENSMUSG00000061130
AA Change: F85L

DomainStartEndE-ValueType
PP2Cc 13 293 1.57e-97 SMART
PP2C_SIG 38 295 2.6e-1 SMART
Blast:PP2Cc 296 341 6e-16 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000112305
AA Change: F85L

PolyPhen 2 Score 0.136 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000107924
Gene: ENSMUSG00000061130
AA Change: F85L

DomainStartEndE-ValueType
PP2Cc 13 293 1.57e-97 SMART
PP2C_SIG 38 295 2.6e-1 SMART
Blast:PP2Cc 296 341 6e-16 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000112307
AA Change: F85L

PolyPhen 2 Score 0.136 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000107926
Gene: ENSMUSG00000061130
AA Change: F85L

DomainStartEndE-ValueType
PP2Cc 13 293 1.57e-97 SMART
PP2C_SIG 38 295 2.6e-1 SMART
Blast:PP2Cc 296 341 5e-16 BLAST
Meta Mutation Damage Score 0.2127 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.2%
Validation Efficiency 98% (52/53)
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 has been shown to dephosphorylate cyclin-dependent kinases (CDKs), and thus may be involved in cell cycle control. Overexpression of this phosphatase is reported to cause cell-growth arrest or cell death. Alternative splicing results in multiple transcript variants encoding different isoforms. Additional transcript variants have been described, but currently do not represent full-length sequences. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous KO results in early pre-implantation lethality. A hypomorphic mutation results in increased sensitivity to Tnf-induced necroptosis and early death. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A T 11: 9,621,917 D4826V probably damaging Het
Acoxl G A 2: 127,877,766 C149Y probably benign Het
Adamts3 G T 5: 89,708,668 H349N probably damaging Het
Ap2b1 A G 11: 83,336,430 probably null Het
Ap3m2 T C 8: 22,803,861 S58G possibly damaging Het
Bhmt2 A T 13: 93,663,290 W213R probably benign Het
Cacna1h T G 17: 25,387,049 D1092A probably damaging Het
Cbfb A C 8: 105,202,561 Q170P probably damaging Het
Ccdc73 A C 2: 104,930,986 K110N possibly damaging Het
Cep350 C A 1: 155,866,078 R2149L probably damaging Het
Cog2 A G 8: 124,546,038 T525A probably benign Het
Dnah8 G A 17: 30,748,568 D2585N probably benign Het
Fbxl5 A G 5: 43,762,828 I251T probably benign Het
Fscn3 A G 6: 28,430,031 K67E possibly damaging Het
Glmp T A 3: 88,326,138 N133K probably benign Het
Gpr179 T C 11: 97,351,406 N204S probably damaging Het
Gtf2ird1 C T 5: 134,383,818 R613Q probably damaging Het
Hepacam A G 9: 37,383,425 D285G possibly damaging Het
Hipk4 G A 7: 27,528,416 V196M probably damaging Het
Hlx A T 1: 184,731,557 probably null Het
Igf2r A T 17: 12,717,367 D597E probably benign Het
Ighm T C 12: 113,421,495 T282A unknown Het
Igsf9b T C 9: 27,328,530 C624R probably damaging Het
Ksr2 T C 5: 117,748,799 V800A probably damaging Het
Lyn A T 4: 3,782,987 I386F probably damaging Het
Melk A G 4: 44,310,333 D102G probably damaging Het
Mettl1 G T 10: 127,041,994 E4* probably null Het
Mybl2 C T 2: 163,068,283 Q210* probably null Het
Naga C T 15: 82,334,853 W231* probably null Het
Olfr131 T C 17: 38,082,456 Y174C probably damaging Het
Olfr730 C T 14: 50,186,648 V190I probably benign Het
Olfr828 T C 9: 18,815,829 N155S possibly damaging Het
Otud4 T C 8: 79,673,461 S935P probably benign Het
P2rx7 C T 5: 122,652,789 T63I probably damaging Het
Pga5 A T 19: 10,669,660 N260K probably benign Het
Phka2 ACC AC X: 160,559,866 probably null Het
Plch1 T A 3: 63,773,655 R184W probably damaging Het
Prtg T A 9: 72,912,006 F1094I probably benign Het
Ralgds G A 2: 28,542,526 probably benign Het
Rgs17 A C 10: 5,833,140 V149G probably damaging Het
Rnf168 A G 16: 32,282,374 E124G probably damaging Het
Sav1 T C 12: 69,976,043 E245G possibly damaging Het
Slc25a19 T C 11: 115,624,234 I33V probably benign Het
Sptbn1 T C 11: 30,145,941 I318V probably damaging Het
Tas2r136 A G 6: 132,777,744 L140P probably damaging Het
Tbc1d9 A G 8: 83,271,026 I1071V probably benign Het
Tecta G T 9: 42,373,178 N870K possibly damaging Het
Tmem230 G A 2: 132,244,128 P38L possibly damaging Het
Trpa1 G T 1: 14,875,950 H986N probably damaging Het
Wdr41 A T 13: 94,978,488 I24L possibly damaging Het
Other mutations in Ppm1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00500:Ppm1b APN 17 85003284 missense probably damaging 1.00
IGL01923:Ppm1b APN 17 84994061 missense probably damaging 0.98
IGL02974:Ppm1b APN 17 84993824 missense possibly damaging 0.92
R0190:Ppm1b UTSW 17 84994103 missense probably damaging 1.00
R0576:Ppm1b UTSW 17 85013559 splice site probably null
R1848:Ppm1b UTSW 17 84994124 missense probably benign 0.00
R2018:Ppm1b UTSW 17 84994202 missense probably damaging 1.00
R2179:Ppm1b UTSW 17 84994434 missense probably damaging 1.00
R3053:Ppm1b UTSW 17 85013846 missense probably benign 0.00
R3085:Ppm1b UTSW 17 85013860 missense probably benign
R4387:Ppm1b UTSW 17 85015419 missense probably benign
R5353:Ppm1b UTSW 17 84994109 missense probably benign 0.17
R5818:Ppm1b UTSW 17 84993719 missense probably benign 0.01
R7588:Ppm1b UTSW 17 85013569 missense probably benign 0.00
R8496:Ppm1b UTSW 17 84994232 missense probably damaging 1.00
R9557:Ppm1b UTSW 17 84994073 missense probably benign 0.00
Z1176:Ppm1b UTSW 17 84994265 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GTTATGGCCTGAGCAGTATGC -3'
(R):5'- CAGAACAGCTCGAGAGTCAC -3'

Sequencing Primer
(F):5'- CCTGAGCAGTATGCAAGGATG -3'
(R):5'- CTCGAGAGTCACCACAGTTGATG -3'
Posted On 2016-11-21