Incidental Mutation 'IGL02937:Ppp2r5b'
ID 364378
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ppp2r5b
Ensembl Gene ENSMUSG00000024777
Gene Name protein phosphatase 2, regulatory subunit B', beta
Synonyms B'beta
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.348) question?
Stock # IGL02937
Quality Score
Status
Chromosome 19
Chromosomal Location 6277795-6285902 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 6281016 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Methionine at position 271 (K271M)
Ref Sequence ENSEMBL: ENSMUSP00000025695 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025695] [ENSMUST00000025698] [ENSMUST00000113526]
AlphaFold Q6PD28
Predicted Effect probably damaging
Transcript: ENSMUST00000025695
AA Change: K271M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000025695
Gene: ENSMUSG00000024777
AA Change: K271M

DomainStartEndE-ValueType
low complexity region 6 25 N/A INTRINSIC
low complexity region 32 48 N/A INTRINSIC
Pfam:B56 62 467 5.2e-187 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000025698
SMART Domains Protein: ENSMUSP00000025698
Gene: ENSMUSG00000024784

DomainStartEndE-ValueType
low complexity region 8 15 N/A INTRINSIC
Pfam:DAN 17 126 5.1e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000113526
SMART Domains Protein: ENSMUSP00000109154
Gene: ENSMUSG00000024784

DomainStartEndE-ValueType
low complexity region 8 15 N/A INTRINSIC
Pfam:DAN 16 123 1.9e-7 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148693
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153155
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of this gene belongs to the phosphatase 2A regulatory subunit B family. Protein phosphatase 2A 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 B regulatory subunit might modulate substrate selectivity and catalytic activity. This gene encodes a beta isoform of the regulatory subunit B56 subfamily. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931406C07Rik C T 9: 15,206,049 (GRCm39) C21Y probably damaging Het
4933427D06Rik T C 6: 89,085,127 (GRCm39) noncoding transcript Het
5730480H06Rik A G 5: 48,536,783 (GRCm39) I160V probably benign Het
Arhgap29 G A 3: 121,767,698 (GRCm39) E47K probably damaging Het
Arhgef12 T A 9: 42,927,216 (GRCm39) S303C probably damaging Het
Bap1 A G 14: 30,980,284 (GRCm39) N644S probably benign Het
Cc2d1b A G 4: 108,489,091 (GRCm39) E796G probably damaging Het
Cfh C A 1: 140,033,180 (GRCm39) R788L probably benign Het
Cldn1 A G 16: 26,179,623 (GRCm39) F148S probably damaging Het
Cryzl1 A G 16: 91,487,619 (GRCm39) M292T possibly damaging Het
Cyp11b1 T C 15: 74,708,408 (GRCm39) R385G possibly damaging Het
Cyp4f37 T C 17: 32,844,163 (GRCm39) L89P probably benign Het
Dach1 A G 14: 98,153,231 (GRCm39) probably null Het
Dhtkd1 A G 2: 5,922,716 (GRCm39) I481T possibly damaging Het
Dlx5 A T 6: 6,881,755 (GRCm39) D44E probably damaging Het
Dsg1a T A 18: 20,464,591 (GRCm39) I362N possibly damaging Het
Ecm2 T A 13: 49,671,952 (GRCm39) I151N probably damaging Het
Far1 T A 7: 113,139,855 (GRCm39) I101N probably damaging Het
Gm21985 T C 2: 112,172,207 (GRCm39) S384P probably benign Het
Gnb5 T C 9: 75,247,471 (GRCm39) Y247H probably damaging Het
Golgb1 A G 16: 36,736,572 (GRCm39) K1940E probably damaging Het
Gprc5b A G 7: 118,583,017 (GRCm39) V284A probably benign Het
Idh2 T C 7: 79,748,661 (GRCm39) Y179C probably damaging Het
Kalrn G A 16: 34,040,500 (GRCm39) Q737* probably null Het
Kcnj13 T C 1: 87,314,175 (GRCm39) D349G probably damaging Het
Lgsn A T 1: 31,243,318 (GRCm39) T467S possibly damaging Het
Map9 T A 3: 82,270,819 (GRCm39) S128T possibly damaging Het
Mroh5 A G 15: 73,661,827 (GRCm39) C455R probably damaging Het
Nes A G 3: 87,887,186 (GRCm39) H1771R probably benign Het
Nkain2 T C 10: 32,205,840 (GRCm39) Y65C probably damaging Het
Or51a43 T A 7: 103,718,056 (GRCm39) M61L probably damaging Het
Or51b6b A T 7: 103,310,112 (GRCm39) V115D probably damaging Het
Or6aa1 T C 7: 86,043,798 (GRCm39) K303E possibly damaging Het
Pabpc4l A C 3: 46,400,725 (GRCm39) D306E probably benign Het
Parp12 A T 6: 39,079,515 (GRCm39) Y332N probably damaging Het
Parvb A T 15: 84,193,154 (GRCm39) K316M probably damaging Het
Pde8a T A 7: 80,945,519 (GRCm39) probably benign Het
Polq A G 16: 36,833,471 (GRCm39) T55A probably benign Het
Ralgapb A G 2: 158,334,936 (GRCm39) probably null Het
Rigi C T 4: 40,229,661 (GRCm39) C86Y probably benign Het
Skap2 T C 6: 51,886,351 (GRCm39) N175D probably benign Het
Slc44a3 A G 3: 121,303,970 (GRCm39) probably benign Het
Smurf2 G A 11: 106,736,873 (GRCm39) H318Y probably damaging Het
Tbc1d23 T C 16: 57,004,778 (GRCm39) T460A possibly damaging Het
Tcerg1 T C 18: 42,657,414 (GRCm39) S299P unknown Het
Tll1 A C 8: 64,658,319 (GRCm39) Y33* probably null Het
Tmem59 A T 4: 107,054,782 (GRCm39) T196S probably damaging Het
Ttll4 C A 1: 74,718,662 (GRCm39) A171D possibly damaging Het
Ttn T C 2: 76,641,513 (GRCm39) T13528A possibly damaging Het
Ttn A G 2: 76,717,621 (GRCm39) probably benign Het
Xpc C A 6: 91,477,119 (GRCm39) G327W probably damaging Het
Zbtb7a A G 10: 80,980,132 (GRCm39) S109G probably benign Het
Zfyve26 T C 12: 79,285,794 (GRCm39) M2328V probably benign Het
Other mutations in Ppp2r5b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00598:Ppp2r5b APN 19 6,280,998 (GRCm39) missense probably damaging 1.00
IGL02714:Ppp2r5b APN 19 6,284,737 (GRCm39) missense probably damaging 0.99
PIT4696001:Ppp2r5b UTSW 19 6,284,713 (GRCm39) missense probably benign 0.12
R0114:Ppp2r5b UTSW 19 6,278,461 (GRCm39) missense probably benign
R0333:Ppp2r5b UTSW 19 6,279,077 (GRCm39) unclassified probably benign
R0627:Ppp2r5b UTSW 19 6,282,664 (GRCm39) unclassified probably benign
R1477:Ppp2r5b UTSW 19 6,280,257 (GRCm39) missense probably benign 0.01
R1628:Ppp2r5b UTSW 19 6,280,935 (GRCm39) critical splice donor site probably null
R4066:Ppp2r5b UTSW 19 6,279,360 (GRCm39) missense probably damaging 1.00
R4834:Ppp2r5b UTSW 19 6,280,540 (GRCm39) missense possibly damaging 0.81
R5854:Ppp2r5b UTSW 19 6,280,974 (GRCm39) missense probably damaging 1.00
R5895:Ppp2r5b UTSW 19 6,284,764 (GRCm39) missense probably damaging 1.00
R6102:Ppp2r5b UTSW 19 6,284,768 (GRCm39) missense probably benign 0.00
R6285:Ppp2r5b UTSW 19 6,280,566 (GRCm39) missense probably benign 0.08
R7087:Ppp2r5b UTSW 19 6,282,580 (GRCm39) missense possibly damaging 0.46
R7391:Ppp2r5b UTSW 19 6,278,544 (GRCm39) missense probably benign 0.00
R7576:Ppp2r5b UTSW 19 6,278,514 (GRCm39) missense possibly damaging 0.76
R7799:Ppp2r5b UTSW 19 6,282,628 (GRCm39) missense probably benign 0.43
Posted On 2015-12-18