Incidental Mutation 'IGL01923:Ppm1b'
ID180168
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ppm1b
Ensembl Gene ENSMUSG00000061130
Gene Nameprotein phosphatase 1B, magnesium dependent, beta isoform
SynonymsPP2CB
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01923
Quality Score
Status
Chromosome17
Chromosomal Location84956741-85023991 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 84994061 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Proline at position 123 (L123P)
Ref Sequence ENSEMBL: ENSMUSP00000079107 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080217] [ENSMUST00000112304] [ENSMUST00000112305] [ENSMUST00000112307]
Predicted Effect probably damaging
Transcript: ENSMUST00000080217
AA Change: L123P

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000079107
Gene: ENSMUSG00000061130
AA Change: L123P

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 possibly damaging
Transcript: ENSMUST00000112304
AA Change: L123P

PolyPhen 2 Score 0.868 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000107923
Gene: ENSMUSG00000061130
AA Change: L123P

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 possibly damaging
Transcript: ENSMUST00000112305
AA Change: L123P

PolyPhen 2 Score 0.868 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000107924
Gene: ENSMUSG00000061130
AA Change: L123P

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 possibly damaging
Transcript: ENSMUST00000112307
AA Change: L123P

PolyPhen 2 Score 0.868 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000107926
Gene: ENSMUSG00000061130
AA Change: L123P

DomainStartEndE-ValueType
PP2Cc 13 293 1.57e-97 SMART
PP2C_SIG 38 295 2.6e-1 SMART
Blast:PP2Cc 296 341 5e-16 BLAST
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 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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrd1 T A 5: 129,178,079 S597T possibly damaging Het
Btnl9 T C 11: 49,180,582 D138G probably benign Het
C130026I21Rik A G 1: 85,254,186 probably benign Het
Cep135 T A 5: 76,640,982 *1141K probably null Het
Ctnnd2 A T 15: 30,480,828 Q74L probably damaging Het
Cyp2j13 A T 4: 96,062,057 W236R probably benign Het
Dixdc1 A T 9: 50,695,503 I271N possibly damaging Het
Dlec1 A G 9: 119,128,114 probably null Het
Dnah9 C A 11: 66,125,235 probably benign Het
Dopey1 A T 9: 86,522,867 Y275F probably damaging Het
Dysf T A 6: 84,210,829 *2105R probably null Het
Eif4a1 A T 11: 69,672,303 D25E possibly damaging Het
Fras1 T A 5: 96,735,280 I2557N probably damaging Het
Gm10717 C T 9: 3,025,616 S67L probably benign Het
Gm12253 G T 11: 58,434,901 probably null Het
Gm21738 G A 14: 19,416,979 S144L probably benign Het
Hsd17b7 A G 1: 169,959,466 V254A probably benign Het
Kif21a T A 15: 90,956,430 D143V probably damaging Het
Lrrc9 T C 12: 72,510,412 V1417A possibly damaging Het
Macf1 C T 4: 123,380,444 A4926T possibly damaging Het
Mef2a A C 7: 67,264,872 S91R probably damaging Het
Myh7 A G 14: 54,985,459 probably null Het
Olfr808 T A 10: 129,768,104 F203I probably benign Het
Pbx2 A G 17: 34,594,050 D160G probably damaging Het
Pcdhb17 T C 18: 37,486,737 F527L probably benign Het
Ppm1k T A 6: 57,522,828 K154N probably benign Het
Ppp2r1a T G 17: 20,965,469 *590G probably null Het
Raver1 A T 9: 21,079,240 L589Q probably damaging Het
Rrbp1 A G 2: 143,990,161 S29P probably damaging Het
Senp5 A G 16: 31,965,816 Y673H probably damaging Het
Serpina3j T A 12: 104,315,214 probably benign Het
Serpinc1 A G 1: 160,989,546 E70G probably damaging Het
Stag3 A G 5: 138,289,230 Q139R probably damaging Het
Sva T A 6: 42,042,170 H91Q probably benign Het
Tmem263 C T 10: 85,114,431 Q29* probably null Het
Tpp1 T C 7: 105,751,650 N57D probably benign Het
Vmn2r27 T A 6: 124,200,525 I507L probably benign Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Wdr11 A T 7: 129,632,322 probably null Het
Zfp236 C T 18: 82,682,219 E42K probably damaging Het
Other mutations in Ppm1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00500:Ppm1b APN 17 85003284 missense probably damaging 1.00
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
R5818:Ppm1b UTSW 17 84993719 missense probably benign 0.01
Posted On2014-05-07