Incidental Mutation 'R5783:Ppp2r5a'
ID 447839
Institutional Source Beutler Lab
Gene Symbol Ppp2r5a
Ensembl Gene ENSMUSG00000026626
Gene Name protein phosphatase 2, regulatory subunit B', alpha
Synonyms
MMRRC Submission 043380-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.196) question?
Stock # R5783 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 191084178-191129238 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 191086837 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 373 (Y373N)
Ref Sequence ENSEMBL: ENSMUSP00000070726 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027940] [ENSMUST00000067976]
AlphaFold Q6PD03
Predicted Effect probably benign
Transcript: ENSMUST00000027940
SMART Domains Protein: ENSMUSP00000027940
Gene: ENSMUSG00000026627

DomainStartEndE-ValueType
coiled coil region 2 36 N/A INTRINSIC
Pfam:TMEM206 55 349 7.2e-173 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000067976
AA Change: Y373N

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000070726
Gene: ENSMUSG00000026626
AA Change: Y373N

DomainStartEndE-ValueType
low complexity region 2 18 N/A INTRINSIC
low complexity region 30 51 N/A INTRINSIC
Pfam:B56 56 462 3.6e-193 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191920
Predicted Effect probably benign
Transcript: ENSMUST00000191925
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195605
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 96.0%
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 an alpha isoform of the regulatory subunit B56 subfamily. Alternative transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Dec 2010]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700093K21Rik T A 11: 23,468,787 (GRCm39) Y48F probably damaging Het
Apob A G 12: 8,051,022 (GRCm39) D1082G probably damaging Het
Cald1 G A 6: 34,730,468 (GRCm39) A236T possibly damaging Het
Ccdc88b A C 19: 6,831,284 (GRCm39) C553G probably benign Het
Cenpe A G 3: 134,967,341 (GRCm39) D2161G probably benign Het
Cep78 G T 19: 15,933,723 (GRCm39) N618K probably benign Het
Chka A G 19: 3,914,661 (GRCm39) N118D probably damaging Het
Dennd5a A C 7: 109,493,843 (GRCm39) I1263S probably damaging Het
Dnaaf9 A C 2: 130,581,003 (GRCm39) F582L possibly damaging Het
Dnm3 T C 1: 162,183,040 (GRCm39) T92A possibly damaging Het
Dpp9 T C 17: 56,518,655 (GRCm39) K50E probably damaging Het
Fen1 G T 19: 10,178,194 (GRCm39) Y83* probably null Het
Gm1110 A G 9: 26,793,632 (GRCm39) I532T probably benign Het
H2bc21 T C 3: 96,128,615 (GRCm39) V45A possibly damaging Het
Impdh1 A T 6: 29,206,342 (GRCm39) F140Y possibly damaging Het
Kcnc4 T C 3: 107,355,188 (GRCm39) D420G possibly damaging Het
Kctd19 A G 8: 106,113,612 (GRCm39) V664A probably benign Het
Krt80 C T 15: 101,257,360 (GRCm39) probably null Het
Lars2 T G 9: 123,290,661 (GRCm39) M876R probably benign Het
Lrrc9 A G 12: 72,502,827 (GRCm39) E266G possibly damaging Het
Mesd T A 7: 83,544,883 (GRCm39) V120E probably damaging Het
Mogs C T 6: 83,095,652 (GRCm39) T823I probably damaging Het
Mrgprh C A 17: 13,096,333 (GRCm39) T191N probably benign Het
Mtss1 C T 15: 58,815,373 (GRCm39) S729N probably benign Het
Muc5b G T 7: 141,412,165 (GRCm39) E1704* probably null Het
Or2ag13 C A 7: 106,472,541 (GRCm39) V304F probably damaging Het
Or51m1 A T 7: 103,578,149 (GRCm39) I40F probably damaging Het
Or8k30 T C 2: 86,338,982 (GRCm39) Y60H probably damaging Het
Osbpl8 T A 10: 111,103,644 (GRCm39) L216* probably null Het
Pcdha5 T C 18: 37,095,534 (GRCm39) V681A probably benign Het
Pgap3 A C 11: 98,281,290 (GRCm39) V190G probably benign Het
Prkdc T C 16: 15,535,665 (GRCm39) L1675P probably damaging Het
Rapgef2 T G 3: 78,995,300 (GRCm39) I635L probably benign Het
Rusc1 T C 3: 88,995,452 (GRCm39) D193G probably damaging Het
Ryr3 C T 2: 112,483,343 (GRCm39) V4140I probably benign Het
Scamp5 A G 9: 57,353,353 (GRCm39) probably null Het
Shoc1 A T 4: 59,076,239 (GRCm39) L568* probably null Het
Slc41a3 T C 6: 90,596,524 (GRCm39) I31T probably benign Het
Smad9 T C 3: 54,701,863 (GRCm39) V368A probably benign Het
Smim8 TTTAATGAAGAGCT TT 4: 34,771,261 (GRCm39) probably benign Het
St8sia1 T C 6: 142,909,340 (GRCm39) N52S possibly damaging Het
Svop T G 5: 114,202,996 (GRCm39) D72A possibly damaging Het
Sybu T C 15: 44,609,810 (GRCm39) I153V probably damaging Het
Tmem266 G T 9: 55,305,087 (GRCm39) S32I probably damaging Het
Trpm4 G T 7: 44,959,813 (GRCm39) R694S probably benign Het
Uqcrfs1 A G 13: 30,729,187 (GRCm39) L15P probably damaging Het
Vrtn T A 12: 84,697,251 (GRCm39) L667Q probably benign Het
Zc3h14 T A 12: 98,723,434 (GRCm39) S241R probably damaging Het
Zfp318 TGAAGAAGAAGAAGAAGAAGAAGAAGAAG TGAAGAAGAAGAAGAAGAAGAAG 17: 46,723,440 (GRCm39) probably benign Het
Zfp617 C A 8: 72,686,308 (GRCm39) H213N probably damaging Het
Zfp638 G A 6: 83,921,829 (GRCm39) G652D possibly damaging Het
Zmiz2 T C 11: 6,355,081 (GRCm39) L916P probably damaging Het
Other mutations in Ppp2r5a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03297:Ppp2r5a APN 1 191,086,959 (GRCm39) missense probably benign 0.28
R1640:Ppp2r5a UTSW 1 191,086,126 (GRCm39) missense probably damaging 0.99
R3005:Ppp2r5a UTSW 1 191,091,173 (GRCm39) missense probably damaging 1.00
R4810:Ppp2r5a UTSW 1 191,088,589 (GRCm39) unclassified probably benign
R5730:Ppp2r5a UTSW 1 191,104,732 (GRCm39) missense probably benign 0.04
R5769:Ppp2r5a UTSW 1 191,104,863 (GRCm39) missense probably benign 0.02
R6215:Ppp2r5a UTSW 1 191,094,447 (GRCm39) missense probably benign 0.02
R7311:Ppp2r5a UTSW 1 191,089,998 (GRCm39) missense probably damaging 1.00
R7485:Ppp2r5a UTSW 1 191,128,532 (GRCm39) missense probably benign 0.07
R7545:Ppp2r5a UTSW 1 191,104,806 (GRCm39) missense probably benign 0.00
R8934:Ppp2r5a UTSW 1 191,100,835 (GRCm39) splice site probably benign
R9166:Ppp2r5a UTSW 1 191,128,504 (GRCm39) missense probably benign 0.26
V5622:Ppp2r5a UTSW 1 191,091,198 (GRCm39) missense probably benign 0.12
V5622:Ppp2r5a UTSW 1 191,091,189 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCTGTCCAGGCTTCAACTAGC -3'
(R):5'- ACCGATTTGCCTTGTCTACATTAG -3'

Sequencing Primer
(F):5'- GCCAAGAGTTCAAGGCTAGCC -3'
(R):5'- GATCTTAGATGTCATTGAACCAACAC -3'
Posted On 2016-12-15