Incidental Mutation 'R6215:Ppp2r5a'
ID 503643
Institutional Source Beutler Lab
Gene Symbol Ppp2r5a
Ensembl Gene ENSMUSG00000026626
Gene Name protein phosphatase 2, regulatory subunit B', alpha
Synonyms
MMRRC Submission 044348-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.196) question?
Stock # R6215 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 191084178-191129238 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 191094447 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 191 (Q191L)
Ref Sequence ENSEMBL: ENSMUSP00000070726 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067976]
AlphaFold Q6PD03
Predicted Effect probably benign
Transcript: ENSMUST00000067976
AA Change: Q191L

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000070726
Gene: ENSMUSG00000026626
AA Change: Q191L

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 unknown
Transcript: ENSMUST00000191925
AA Change: Q59L
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192334
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195605
Meta Mutation Damage Score 0.2043 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency 95% (42/44)
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 C T 13: 81,727,713 (GRCm39) W309* probably null Het
Aox1 G A 1: 58,124,620 (GRCm39) V954I probably benign Het
Asnsd1 A C 1: 53,387,187 (GRCm39) probably null Het
Aste1 A G 9: 105,274,056 (GRCm39) K38E probably damaging Het
Catsperg1 A G 7: 28,899,664 (GRCm39) V339A probably damaging Het
Ccdc13 A G 9: 121,627,975 (GRCm39) probably benign Het
Cd79b C A 11: 106,203,267 (GRCm39) probably null Het
Cemip2 C A 19: 21,789,751 (GRCm39) N650K probably benign Het
Chd3 A G 11: 69,247,380 (GRCm39) L981P probably damaging Het
Chia1 T C 3: 106,029,761 (GRCm39) F132L probably damaging Het
Dhx9 G A 1: 153,348,209 (GRCm39) P336S probably damaging Het
Dido1 T C 2: 180,303,945 (GRCm39) K1320E probably damaging Het
Dmbt1 G T 7: 130,668,463 (GRCm39) C573F possibly damaging Het
Dmtn A G 14: 70,850,776 (GRCm39) I205T probably benign Het
Efnb3 C A 11: 69,447,591 (GRCm39) V181L probably benign Het
Flg2 G T 3: 93,109,166 (GRCm39) C398F possibly damaging Het
Gabbr1 A G 17: 37,380,257 (GRCm39) D604G probably damaging Het
Glis2 T A 16: 4,428,197 (GRCm39) L83* probably null Het
Gm10719 T A 9: 3,019,040 (GRCm39) probably null Homo
Hipk3 T C 2: 104,264,086 (GRCm39) D804G probably damaging Het
Kcnd1 G C X: 7,690,148 (GRCm39) A23P probably damaging Homo
Kcnj13 A G 1: 87,314,256 (GRCm39) V322A probably benign Het
Nav3 A G 10: 109,688,426 (GRCm39) L617P probably damaging Het
Npc1 ACAGCAGCAGCAGCAGCAG ACAGCAGCAGCAGCAG 18: 12,369,249 (GRCm39) probably benign Het
Or8b3b A G 9: 38,584,510 (GRCm39) S90P probably benign Het
Osgin1 G A 8: 120,172,183 (GRCm39) V326I probably benign Het
Pcsk7 A C 9: 45,821,674 (GRCm39) N156T possibly damaging Het
Pde4d C T 13: 110,085,967 (GRCm39) S515L probably damaging Het
Peg10 GC GCCCC 6: 4,756,452 (GRCm39) probably benign Het
Prom2 A G 2: 127,381,695 (GRCm39) probably null Het
Rsf1 CG CGACGGCGGTG 7: 97,229,115 (GRCm39) probably benign Het
Sart3 C T 5: 113,881,267 (GRCm39) A938T probably benign Het
Scn3a T C 2: 65,325,380 (GRCm39) I1046V probably benign Het
Sh3glb2 T C 2: 30,235,805 (GRCm39) E313G possibly damaging Het
Slc13a1 A T 6: 24,090,795 (GRCm39) Y541* probably null Het
Smtnl2 G A 11: 72,292,225 (GRCm39) A274V probably damaging Het
Spata31h1 T A 10: 82,126,946 (GRCm39) K2021N probably benign Het
Speer1d C T 5: 11,307,197 (GRCm39) T25I probably damaging Het
Tm6sf2 T C 8: 70,525,724 (GRCm39) V27A possibly damaging Het
Tmem116 C T 5: 121,629,171 (GRCm39) T188M probably benign Het
Trim21 A G 7: 102,208,646 (GRCm39) S358P probably damaging Het
Ttc21a A G 9: 119,795,838 (GRCm39) Y1224C probably damaging Het
Ttn T A 2: 76,710,552 (GRCm39) probably benign Het
Vmn2r99 A G 17: 19,602,820 (GRCm39) Q525R probably benign 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
R5783:Ppp2r5a UTSW 1 191,086,837 (GRCm39) missense probably damaging 0.98
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'- TGCCATTTTGCCTGCATGTATG -3'
(R):5'- CAACTCACGCTAGTAAGAAAGGTG -3'

Sequencing Primer
(F):5'- TCACCAACAGTTGTGAGCTG -3'
(R):5'- TCACGCTAGTAAGAAAGGTGGTTGG -3'
Posted On 2018-02-27