Incidental Mutation 'IGL01566:Ppp2cb'
ID90993
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ppp2cb
Ensembl Gene ENSMUSG00000009630
Gene Nameprotein phosphatase 2 (formerly 2A), catalytic subunit, beta isoform
SynonymsPP2Ac, D8Ertd766e
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01566
Quality Score
Status
Chromosome8
Chromosomal Location33599625-33619441 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 33611763 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Serine at position 110 (R110S)
Ref Sequence ENSEMBL: ENSMUSP00000009774 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000009774]
Predicted Effect probably benign
Transcript: ENSMUST00000009774
AA Change: R110S

PolyPhen 2 Score 0.383 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000009774
Gene: ENSMUSG00000009630
AA Change: R110S

DomainStartEndE-ValueType
PP2Ac 23 293 2.48e-156 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the phosphatase 2A catalytic subunit. 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. This gene encodes a beta isoform of the catalytic subunit. [provided by RefSeq, Mar 2010]
PHENOTYPE: Mice homozygous for a knock-out allele are viable and fertile. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931417E11Rik G A 6: 73,468,690 T292I probably damaging Het
AB124611 T C 9: 21,535,989 V149A possibly damaging Het
Casc3 T C 11: 98,823,401 probably null Het
Dhdds T C 4: 133,991,337 I162V probably damaging Het
Dsg1a T C 18: 20,336,783 probably benign Het
E030025P04Rik T A 11: 109,143,888 D58V unknown Het
Gcn1l1 A G 5: 115,611,058 N1883S probably damaging Het
Gucy1a2 T C 9: 3,634,661 L235P probably damaging Het
Kprp T C 3: 92,823,964 N593S probably benign Het
Mme T C 3: 63,361,929 probably benign Het
Nr6a1 G T 2: 38,727,889 Q419K probably benign Het
Pcolce A G 5: 137,605,160 probably benign Het
Slc35f1 A G 10: 53,089,455 Y322C probably damaging Het
Slc5a3 T C 16: 92,077,577 V174A probably damaging Het
St8sia4 G T 1: 95,653,757 R87S probably benign Het
Tfdp2 A G 9: 96,295,030 E5G probably damaging Het
Tmem161b T C 13: 84,294,762 I267T probably benign Het
Ttn A G 2: 76,952,021 L957P probably damaging Het
Ttn A G 2: 76,782,101 probably benign Het
Ubqln1 A T 13: 58,179,667 probably null Het
Wdfy3 A C 5: 101,896,588 probably benign Het
Other mutations in Ppp2cb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02985:Ppp2cb APN 8 33615446 unclassified probably benign
IGL03251:Ppp2cb APN 8 33610651 splice site probably benign
Breakthrough UTSW 8 33615474 missense probably damaging 1.00
R0940:Ppp2cb UTSW 8 33615661 splice site probably null
R1688:Ppp2cb UTSW 8 33615452 missense probably benign 0.02
R2187:Ppp2cb UTSW 8 33610677 missense possibly damaging 0.95
R2350:Ppp2cb UTSW 8 33611827 missense probably null 1.00
R4418:Ppp2cb UTSW 8 33617049 missense probably benign
R4566:Ppp2cb UTSW 8 33610695 missense possibly damaging 0.67
R6187:Ppp2cb UTSW 8 33615474 missense probably damaging 1.00
R6990:Ppp2cb UTSW 8 33619133 missense probably benign 0.01
R7477:Ppp2cb UTSW 8 33615474 missense probably benign 0.01
Posted On2013-12-09