Incidental Mutation 'R4066:Ppp2r5b'
ID 316137
Institutional Source Beutler Lab
Gene Symbol Ppp2r5b
Ensembl Gene ENSMUSG00000024777
Gene Name protein phosphatase 2, regulatory subunit B', beta
Synonyms B'beta
MMRRC Submission 040973-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.348) question?
Stock # R4066 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 6277795-6285902 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 6279360 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 379 (Y379C)
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: Y379C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000025695
Gene: ENSMUSG00000024777
AA Change: Y379C

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
Meta Mutation Damage Score 0.7893 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency 96% (50/52)
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam23 A T 1: 63,602,584 (GRCm39) H582L probably damaging Het
Ankrd13d C T 19: 4,320,388 (GRCm39) A118T probably benign Het
Arhgap30 C T 1: 171,235,891 (GRCm39) T755I probably benign Het
Cab39l A G 14: 59,784,454 (GRCm39) H285R probably benign Het
Dpyd AAT AATGTATATATAT 3: 118,690,738 (GRCm39) probably benign Het
Dspp T A 5: 104,325,060 (GRCm39) N474K unknown Het
Fanci T C 7: 79,062,505 (GRCm39) probably null Het
Fras1 T A 5: 96,918,542 (GRCm39) I3526K possibly damaging Het
Fut8 T A 12: 77,510,835 (GRCm39) Y421N probably damaging Het
Gm12258 C T 11: 58,749,352 (GRCm39) L176F probably benign Het
Gm8220 A T 14: 44,523,095 (GRCm39) R12* probably null Het
Hecw1 T C 13: 14,491,016 (GRCm39) S659G probably damaging Het
Hnrnpr C A 4: 136,066,657 (GRCm39) probably benign Het
Htt C T 5: 35,036,191 (GRCm39) T2046I probably benign Het
Kat7 T C 11: 95,174,967 (GRCm39) D259G possibly damaging Het
Klra9 T C 6: 130,165,707 (GRCm39) T103A probably benign Het
Lad1 A G 1: 135,755,165 (GRCm39) E147G probably damaging Het
Lipo2 T C 19: 33,698,259 (GRCm39) I373V probably benign Het
Ltb4r1 G T 14: 56,004,952 (GRCm39) W85L probably damaging Het
Ltn1 T C 16: 87,213,118 (GRCm39) Y481C possibly damaging Het
Man1c1 G C 4: 134,430,749 (GRCm39) P11R probably damaging Het
Muc4 A T 16: 32,569,869 (GRCm39) I310F possibly damaging Het
Myl10 A G 5: 136,724,304 (GRCm39) K70E probably damaging Het
Nptx2 G T 5: 144,493,122 (GRCm39) W403L probably damaging Het
Nyap2 A G 1: 81,219,550 (GRCm39) Y524C probably damaging Het
Or4a72 T A 2: 89,405,523 (GRCm39) L182F probably damaging Het
Or6b2b A G 1: 92,418,911 (GRCm39) C189R probably damaging Het
Or8b1 T A 9: 38,399,778 (GRCm39) M151K probably benign Het
Pde9a A G 17: 31,662,812 (GRCm39) *64W probably null Het
Rd3l T G 12: 111,945,945 (GRCm39) N178T probably benign Het
Recql4 A G 15: 76,590,027 (GRCm39) Y673H probably damaging Het
Rnps1-ps T A 6: 7,983,009 (GRCm39) noncoding transcript Het
Shcbp1 A G 8: 4,798,716 (GRCm39) I401T probably damaging Het
Shd A T 17: 56,278,581 (GRCm39) D48V probably damaging Het
Slc14a1 A G 18: 78,154,592 (GRCm39) W209R probably damaging Het
Slc2a9 T C 5: 38,640,692 (GRCm39) K6E probably benign Het
Slco6d1 A G 1: 98,391,571 (GRCm39) probably benign Het
Spic T C 10: 88,511,545 (GRCm39) H237R possibly damaging Het
Stau2 A G 1: 16,464,283 (GRCm39) S156P possibly damaging Het
Stmn2 T C 3: 8,574,668 (GRCm39) probably benign Het
Togaram2 C A 17: 72,023,233 (GRCm39) probably benign Het
Trpc5 T A X: 143,202,594 (GRCm39) R545* probably null Het
Ugcg C T 4: 59,207,798 (GRCm39) P46S probably benign Het
Wdfy3 C T 5: 102,070,313 (GRCm39) V1152I probably benign Het
Xpo4 G T 14: 57,825,511 (GRCm39) H939N 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
IGL02937:Ppp2r5b APN 19 6,281,016 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- TGCCGACTTTTGCTCACAGC -3'
(R):5'- TCAGGACTACCCGTCTGGAAAG -3'

Sequencing Primer
(F):5'- ACTTTTGCTCACAGCTAGGAGAG -3'
(R):5'- TGGAAAGCCAGGGCCTTTTC -3'
Posted On 2015-05-15