Incidental Mutation 'R5818:Ppm1b'
ID449193
Institutional Source Beutler Lab
Gene Symbol Ppm1b
Ensembl Gene ENSMUSG00000061130
Gene Nameprotein phosphatase 1B, magnesium dependent, beta isoform
SynonymsPP2CB
MMRRC Submission 043398-MU
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R5818 (G1)
Quality Score225
Status Validated
Chromosome17
Chromosomal Location84956741-85023991 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 84993719 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Arginine at position 9 (K9R)
Ref Sequence ENSEMBL: ENSMUSP00000079107 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080217] [ENSMUST00000112304] [ENSMUST00000112305] [ENSMUST00000112307]
Predicted Effect probably benign
Transcript: ENSMUST00000080217
AA Change: K9R

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000079107
Gene: ENSMUSG00000061130
AA Change: K9R

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: K9R

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000107923
Gene: ENSMUSG00000061130
AA Change: K9R

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: K9R

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000107924
Gene: ENSMUSG00000061130
AA Change: K9R

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: K9R

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000107926
Gene: ENSMUSG00000061130
AA Change: K9R

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 0.0590 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.1%
Validation Efficiency 100% (64/64)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 A T 11: 110,219,643 V560D probably damaging Het
Actn4 A G 7: 28,919,019 I72T probably damaging Het
Adam33 A T 2: 131,054,358 C440S possibly damaging Het
Bace1 T C 9: 45,859,049 I361T possibly damaging Het
Bend6 T C 1: 33,883,573 probably benign Het
Bpifb9a T G 2: 154,262,295 N219K probably damaging Het
Cacna1g C A 11: 94,418,120 K1634N probably damaging Het
Ccdc155 C T 7: 45,193,959 probably null Het
Cdk18 A G 1: 132,119,098 probably null Het
Chrng G A 1: 87,209,801 V320I probably benign Het
Corin G T 5: 72,435,395 H87N probably benign Het
Cps1 A T 1: 67,166,488 I557F possibly damaging Het
Cyp4a29 T C 4: 115,247,032 V99A possibly damaging Het
Dach1 T C 14: 98,168,684 D209G probably damaging Het
Dgat1 G A 15: 76,502,207 probably benign Het
Fbxw26 G T 9: 109,732,566 R187S probably benign Het
Gabrd G A 4: 155,388,361 P122S probably damaging Het
Gm11677 C T 11: 111,724,711 noncoding transcript Het
Gm8300 T G 12: 87,517,060 V55G possibly damaging Het
Hif1a A G 12: 73,939,564 Q343R possibly damaging Het
Hyou1 G A 9: 44,388,926 probably null Het
Igfn1 A T 1: 135,966,126 I2072K possibly damaging Het
Kctd8 C T 5: 69,296,711 A328T probably benign Het
Krt10 A G 11: 99,388,771 Y188H probably damaging Het
Krtap4-16 T A 11: 99,851,523 Q17L unknown Het
Larp4b T A 13: 9,158,560 S416R probably benign Het
Lmtk2 G A 5: 144,156,900 V232M probably benign Het
Mroh4 A G 15: 74,611,982 I571T probably damaging Het
Myo15 G A 11: 60,497,951 R2021Q probably benign Het
Npl G A 1: 153,535,915 R63C probably damaging Het
Ntn4 A G 10: 93,644,764 I80V probably benign Het
Numb C T 12: 83,825,254 probably null Het
Nusap1 A C 2: 119,635,513 M205L possibly damaging Het
Olfr149 T C 9: 39,702,365 S135G probably benign Het
Onecut2 T A 18: 64,340,975 M180K possibly damaging Het
Pmfbp1 T C 8: 109,538,679 probably null Het
Ppfia1 T C 7: 144,520,568 probably benign Het
Rab11fip3 T C 17: 26,016,116 S608G probably damaging Het
Smim8 TTTAATGAAGAGCT TT 4: 34,771,261 probably benign Het
Sohlh2 A G 3: 55,190,501 T125A probably damaging Het
Ssfa2 T A 2: 79,644,593 S299T probably damaging Het
Tet1 C A 10: 62,816,408 M1610I possibly damaging Het
Tgfbr3 A T 5: 107,133,003 D630E probably benign Het
Thnsl2 T C 6: 71,134,143 D247G probably benign Het
Tmem198b G A 10: 128,802,188 R169W probably benign Het
Tmem201 G A 4: 149,727,392 A332V probably benign Het
Tsku T C 7: 98,352,098 D342G possibly damaging Het
Ucn2 A T 9: 108,986,497 H109L probably benign Het
Virma T G 4: 11,513,319 L391R possibly damaging Het
Vmn1r60 T A 7: 5,545,099 M1L probably benign Het
Vmn2r76 T C 7: 86,229,934 H386R probably benign Het
Zfp608 C T 18: 54,895,396 R1315Q probably benign Het
Zmym2 A G 14: 56,946,529 T983A probably benign Het
Zscan26 A G 13: 21,445,761 S65P probably benign 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
R5738:Ppm1b UTSW 17 84993946 missense probably benign 0.14
R7588:Ppm1b UTSW 17 85013569 missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- GTTACCCCAGTAAGTCGGGTAC -3'
(R):5'- CCCTGAAGTCTTCATTGGTGG -3'

Sequencing Primer
(F):5'- TCGGGTACTGCTGAAAATACC -3'
(R):5'- ACAGTAATTTGCCACTCGGG -3'
Posted On2016-12-20