Incidental Mutation 'R0047:Ppp2r1b'
ID 15991
Institutional Source Beutler Lab
Gene Symbol Ppp2r1b
Ensembl Gene ENSMUSG00000032058
Gene Name protein phosphatase 2, regulatory subunit A, beta
Synonyms 2410091N08Rik
MMRRC Submission 038341-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.567) question?
Stock # R0047 (G1)
Quality Score
Status Validated
Chromosome 9
Chromosomal Location 50767946-50810625 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to T at 50772873 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Stop codon at position 117 (R117*)
Ref Sequence ENSEMBL: ENSMUSP00000135525 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034560] [ENSMUST00000114437] [ENSMUST00000174628] [ENSMUST00000175640] [ENSMUST00000175645] [ENSMUST00000176798] [ENSMUST00000176349] [ENSMUST00000175926]
AlphaFold Q7TNP2
Predicted Effect probably null
Transcript: ENSMUST00000034560
AA Change: R117*
SMART Domains Protein: ENSMUSP00000034560
Gene: ENSMUSG00000032058
AA Change: R117*

DomainStartEndE-ValueType
low complexity region 2 21 N/A INTRINSIC
Pfam:HEAT 178 208 2.2e-6 PFAM
Pfam:HEAT_EZ 182 243 9.9e-6 PFAM
Pfam:HEAT 295 325 5.9e-6 PFAM
Pfam:HEAT_2 378 479 1.1e-10 PFAM
Pfam:HEAT_2 495 596 5.1e-8 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000114437
AA Change: R117*
SMART Domains Protein: ENSMUSP00000110080
Gene: ENSMUSG00000032058
AA Change: R117*

DomainStartEndE-ValueType
low complexity region 2 21 N/A INTRINSIC
Pfam:HEAT 178 208 1.6e-6 PFAM
Pfam:HEAT_EZ 180 243 7.3e-6 PFAM
Pfam:HEAT 217 247 4.3e-5 PFAM
Pfam:HEAT 295 325 4.2e-6 PFAM
Pfam:HEAT_2 378 479 9e-11 PFAM
Pfam:HEAT_2 494 597 4.2e-8 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174555
Predicted Effect probably null
Transcript: ENSMUST00000174628
AA Change: R117*
SMART Domains Protein: ENSMUSP00000133404
Gene: ENSMUSG00000032058
AA Change: R117*

DomainStartEndE-ValueType
low complexity region 2 21 N/A INTRINSIC
Pfam:HEAT 178 208 4.6e-6 PFAM
Pfam:HEAT 217 247 4.5e-5 PFAM
Pfam:HEAT 295 325 4.3e-6 PFAM
Pfam:HEAT_2 378 479 1.7e-11 PFAM
low complexity region 643 655 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000175640
SMART Domains Protein: ENSMUSP00000134740
Gene: ENSMUSG00000032058

DomainStartEndE-ValueType
low complexity region 2 21 N/A INTRINSIC
Pfam:HEAT 129 159 5.7e-5 PFAM
Pfam:HEAT 168 198 4e-6 PFAM
Pfam:HEAT_2 251 352 6.3e-11 PFAM
Pfam:HEAT_2 365 470 3e-8 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000175645
AA Change: R117*
SMART Domains Protein: ENSMUSP00000135871
Gene: ENSMUSG00000032058
AA Change: R117*

DomainStartEndE-ValueType
low complexity region 2 21 N/A INTRINSIC
Pfam:HEAT_EZ 173 243 8e-6 PFAM
Pfam:HEAT 178 208 1.8e-6 PFAM
Pfam:HEAT 217 247 4.9e-5 PFAM
Pfam:HEAT 295 325 4.8e-6 PFAM
Pfam:HEAT_2 449 552 3.9e-8 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000176798
AA Change: R117*
SMART Domains Protein: ENSMUSP00000135525
Gene: ENSMUSG00000032058
AA Change: R117*

DomainStartEndE-ValueType
low complexity region 2 21 N/A INTRINSIC
Pfam:HEAT 178 208 2.3e-6 PFAM
Pfam:HEAT_EZ 182 243 1e-5 PFAM
Pfam:HEAT 295 325 6e-6 PFAM
Pfam:HEAT_2 378 479 1.1e-10 PFAM
Pfam:HEAT_2 495 596 5.2e-8 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000176349
AA Change: R53*
SMART Domains Protein: ENSMUSP00000135758
Gene: ENSMUSG00000032058
AA Change: R53*

DomainStartEndE-ValueType
low complexity region 2 21 N/A INTRINSIC
Pfam:HEAT 114 144 2e-6 PFAM
Pfam:HEAT_EZ 116 179 8.7e-6 PFAM
Pfam:HEAT 153 183 5.5e-5 PFAM
Pfam:HEAT 231 261 5.3e-6 PFAM
Pfam:HEAT_2 314 415 9.3e-11 PFAM
Pfam:HEAT_2 430 532 4.4e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000175926
SMART Domains Protein: ENSMUSP00000134886
Gene: ENSMUSG00000032058

DomainStartEndE-ValueType
SCOP:d1b3ua_ 14 104 4e-15 SMART
PDB:3DW8|D 22 104 4e-45 PDB
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 89.2%
  • 3x: 86.3%
  • 10x: 78.8%
  • 20x: 65.9%
Validation Efficiency 95% (110/116)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a constant regulatory subunit of protein phosphatase 2. Protein phosphatase 2 is one of the four major Ser/Thr phosphatases, and it is implicated in the negative control of cell growth and division. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant regulatory subunit, that associates with a variety of regulatory subunits. The constant regulatory subunit A serves as a scaffolding molecule to coordinate the assembly of the catalytic subunit and a variable regulatory B subunit. This gene encodes a beta isoform of the constant regulatory subunit A. Mutations in this gene have been associated with some lung and colon cancers. Alternatively spliced transcript variants have been described. [provided by RefSeq, Apr 2010]
Allele List at MGI

All alleles(3) : Targeted(2) Gene trapped(1)

Other mutations in this stock
Total: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik A G 3: 137,772,025 (GRCm39) T405A probably damaging Het
Acer1 A T 17: 57,262,624 (GRCm39) D175E possibly damaging Het
Adamts9 G A 6: 92,882,287 (GRCm39) probably benign Het
Amigo3 T C 9: 107,931,857 (GRCm39) S427P probably benign Het
Arid4a T G 12: 71,122,193 (GRCm39) L858W probably damaging Het
Bbox1 A G 2: 110,098,647 (GRCm39) F310S probably damaging Het
Bltp1 T A 3: 36,962,341 (GRCm39) L481M possibly damaging Het
Bmper T A 9: 23,317,982 (GRCm39) C534S probably damaging Het
Cacna1d T G 14: 30,068,747 (GRCm39) probably benign Het
Capn12 G A 7: 28,589,812 (GRCm39) probably null Het
Chchd1 T C 14: 20,754,231 (GRCm39) S48P possibly damaging Het
Cnot7 A G 8: 40,948,962 (GRCm39) probably benign Het
Cux1 T C 5: 136,392,107 (GRCm39) probably benign Het
Cyp2b19 T A 7: 26,466,251 (GRCm39) D351E probably benign Het
Dctn1 G T 6: 83,159,614 (GRCm39) G31* probably null Het
Duox1 T A 2: 122,177,122 (GRCm39) probably benign Het
Egflam T G 15: 7,282,911 (GRCm39) E382A possibly damaging Het
Ext1 T C 15: 53,208,542 (GRCm39) N73S probably benign Het
Glg1 A T 8: 111,892,214 (GRCm39) M866K probably damaging Het
Gm3333 A G 13: 62,422,285 (GRCm39) noncoding transcript Het
Golm1 T A 13: 59,792,914 (GRCm39) H197L probably benign Het
Gtse1 A G 15: 85,746,579 (GRCm39) K132E probably damaging Het
Gxylt2 A T 6: 100,710,339 (GRCm39) probably benign Het
Hrc T A 7: 44,986,113 (GRCm39) S421R probably benign Het
Ighg2c T A 12: 113,251,788 (GRCm39) probably benign Het
Ihh A G 1: 74,985,750 (GRCm39) I245T probably benign Het
Ilf3 T A 9: 21,300,010 (GRCm39) M65K possibly damaging Het
Kif9 A G 9: 110,314,106 (GRCm39) I33V probably benign Het
Lama1 A T 17: 68,102,181 (GRCm39) probably benign Het
Lamb1 T C 12: 31,328,600 (GRCm39) I188T possibly damaging Het
Lpp T A 16: 24,480,550 (GRCm39) probably benign Het
Mark2 A C 19: 7,260,942 (GRCm39) probably benign Het
Mmp3 T C 9: 7,451,910 (GRCm39) probably benign Het
Mthfd1l T A 10: 3,928,727 (GRCm39) probably benign Het
Mtr A T 13: 12,237,112 (GRCm39) S569T probably damaging Het
Myh13 T A 11: 67,258,063 (GRCm39) S1752T probably benign Het
Myo5a T A 9: 75,063,489 (GRCm39) L565H probably damaging Het
Numa1 A G 7: 101,658,660 (GRCm39) K296E probably damaging Het
Obi1 T A 14: 104,740,780 (GRCm39) probably null Het
Or51ab3 A T 7: 103,201,529 (GRCm39) Y179F probably damaging Het
Or5ac19 C T 16: 59,089,574 (GRCm39) G152D probably damaging Het
Or5b120 A G 19: 13,479,953 (GRCm39) E82G probably benign Het
Pla2g2c T C 4: 138,470,901 (GRCm39) probably benign Het
Pnpla7 A T 2: 24,901,618 (GRCm39) E548V probably damaging Het
Ppm1m C A 9: 106,073,895 (GRCm39) E273* probably null Het
Psg-ps1 A G 7: 17,411,806 (GRCm39) noncoding transcript Het
Rabgap1l G A 1: 160,059,359 (GRCm39) probably benign Het
Rapgef6 T A 11: 54,437,204 (GRCm39) M49K possibly damaging Het
Rtel1 T G 2: 180,965,198 (GRCm39) I146M probably damaging Het
Sdr9c7 A T 10: 127,739,541 (GRCm39) M219L probably benign Het
Serpinb1a A T 13: 33,034,259 (GRCm39) L44Q probably damaging Het
Slc13a4 A G 6: 35,264,297 (GRCm39) I190T possibly damaging Het
Slc46a2 A G 4: 59,914,392 (GRCm39) L177P probably damaging Het
Slc47a2 C T 11: 61,227,068 (GRCm39) V167M possibly damaging Het
Snrnp200 C T 2: 127,076,874 (GRCm39) probably benign Het
Snx13 C A 12: 35,151,123 (GRCm39) probably benign Het
Snx25 C T 8: 46,494,402 (GRCm39) A828T probably damaging Het
Spic A G 10: 88,511,803 (GRCm39) L151P probably damaging Het
Sptb G T 12: 76,669,724 (GRCm39) Q535K probably damaging Het
Ssu2 G A 6: 112,351,781 (GRCm39) H315Y probably damaging Het
Stk32a T C 18: 43,446,443 (GRCm39) probably benign Het
Tcaf2 A G 6: 42,606,547 (GRCm39) I469T probably benign Het
Tln2 A G 9: 67,147,954 (GRCm39) probably benign Het
Top2a T A 11: 98,888,682 (GRCm39) I1260L probably benign Het
Treml1 C A 17: 48,672,008 (GRCm39) S91* probably null Het
Trmt11 T C 10: 30,411,239 (GRCm39) N418S probably benign Het
Ttf1 A G 2: 28,974,667 (GRCm39) Y801C probably damaging Het
Usp34 C T 11: 23,414,403 (GRCm39) A2782V probably benign Het
Vps4a T C 8: 107,763,333 (GRCm39) L29P probably damaging Het
Wdfy3 A G 5: 102,091,899 (GRCm39) I480T probably damaging Het
Ywhag A T 5: 135,940,153 (GRCm39) V147E probably damaging Het
Other mutations in Ppp2r1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01622:Ppp2r1b APN 9 50,789,422 (GRCm39) missense probably damaging 0.99
IGL01623:Ppp2r1b APN 9 50,789,422 (GRCm39) missense probably damaging 0.99
IGL02120:Ppp2r1b APN 9 50,773,069 (GRCm39) splice site probably benign
IGL02158:Ppp2r1b APN 9 50,772,909 (GRCm39) missense probably benign 0.02
IGL02706:Ppp2r1b APN 9 50,790,134 (GRCm39) missense possibly damaging 0.83
IGL02801:Ppp2r1b APN 9 50,790,127 (GRCm39) missense probably benign 0.00
IGL02943:Ppp2r1b APN 9 50,794,885 (GRCm39) missense probably damaging 1.00
R0047:Ppp2r1b UTSW 9 50,772,873 (GRCm39) nonsense probably null
R0211:Ppp2r1b UTSW 9 50,772,925 (GRCm39) missense probably benign 0.00
R0603:Ppp2r1b UTSW 9 50,772,985 (GRCm39) missense probably damaging 1.00
R1219:Ppp2r1b UTSW 9 50,778,621 (GRCm39) splice site probably benign
R1513:Ppp2r1b UTSW 9 50,781,445 (GRCm39) missense probably damaging 1.00
R1545:Ppp2r1b UTSW 9 50,773,725 (GRCm39) missense possibly damaging 0.68
R1997:Ppp2r1b UTSW 9 50,778,671 (GRCm39) missense possibly damaging 0.71
R1998:Ppp2r1b UTSW 9 50,794,885 (GRCm39) missense probably damaging 1.00
R2153:Ppp2r1b UTSW 9 50,777,854 (GRCm39) missense probably damaging 1.00
R3829:Ppp2r1b UTSW 9 50,773,794 (GRCm39) missense probably benign 0.02
R4672:Ppp2r1b UTSW 9 50,779,019 (GRCm39) missense probably damaging 0.99
R5299:Ppp2r1b UTSW 9 50,768,340 (GRCm39) missense probably benign 0.04
R5376:Ppp2r1b UTSW 9 50,778,228 (GRCm39) missense possibly damaging 0.78
R5504:Ppp2r1b UTSW 9 50,770,187 (GRCm39) missense probably damaging 1.00
R5700:Ppp2r1b UTSW 9 50,789,457 (GRCm39) missense probably damaging 1.00
R5771:Ppp2r1b UTSW 9 50,778,132 (GRCm39) missense probably damaging 0.98
R7547:Ppp2r1b UTSW 9 50,773,762 (GRCm39) missense probably benign 0.06
R7626:Ppp2r1b UTSW 9 50,789,476 (GRCm39) missense possibly damaging 0.91
R8498:Ppp2r1b UTSW 9 50,778,194 (GRCm39) nonsense probably null
R9096:Ppp2r1b UTSW 9 50,777,856 (GRCm39) missense probably benign 0.03
R9201:Ppp2r1b UTSW 9 50,789,447 (GRCm39) missense probably benign 0.02
Z1088:Ppp2r1b UTSW 9 50,778,211 (GRCm39) missense probably damaging 1.00
Z1176:Ppp2r1b UTSW 9 50,784,945 (GRCm39) frame shift probably null
Protein Function and Prediction

Ppp2r1b encodes PP2AA-beta, the beta isoform of the structural regulatory A subunit (PP2AA) of the trimeric serine/threonine protein phosphatase-2A (PP2A), a phosphatase that downregulates the mitogen-activated protein kinase (MAPK) cascade, relays signals for cell proliferation, and may be linked to carcinogenesis. PP2AA-beta interacts with the catalytic PP2AC subunit and variable PP2AB regulatory subunits to facilitate phosphatase activity (1;2). In immortalized human cells, the suppression of PP2AA-beta exrpression resulted in a conversion of the cells to a tumorigenic state through an interaction with, and a modulation of activity of, the small GTPase, RalA; this study proposed that PP2AA-beta is a tumor suppressor (3).

References
Posted On 2013-01-08
Science Writer Anne Murray