Incidental Mutation 'R6059:Ppp2r5c'
ID 483141
Institutional Source Beutler Lab
Gene Symbol Ppp2r5c
Ensembl Gene ENSMUSG00000017843
Gene Name protein phosphatase 2, regulatory subunit B', gamma
Synonyms 2610043M05Rik, D12Bwg0916e, B56/PP2A gamma, Band 8A, 2700063L20Rik
MMRRC Submission 044225-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6059 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 110413554-110549496 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 110541222 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Glutamic Acid at position 457 (A457E)
Ref Sequence ENSEMBL: ENSMUSP00000152282 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084985] [ENSMUST00000109832] [ENSMUST00000221074] [ENSMUST00000221715]
AlphaFold Q60996
Predicted Effect probably benign
Transcript: ENSMUST00000084985
AA Change: A457E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000082053
Gene: ENSMUSG00000017843
AA Change: A457E

DomainStartEndE-ValueType
Pfam:B56 27 437 1.6e-199 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000109832
SMART Domains Protein: ENSMUSP00000105458
Gene: ENSMUSG00000017843

DomainStartEndE-ValueType
Pfam:B56 26 438 3e-178 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000221074
AA Change: A457E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000221715
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223168
Meta Mutation Damage Score 0.1629 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.8%
  • 20x: 93.3%
Validation Efficiency 95% (54/57)
MGI Phenotype PHENOTYPE: Mice homozygous for a gene-trapped allele show partial neonatal lethality, hypoactivity, and abnormal ventricular septum formation associated with increased fetal cardiomyocyte apoptosis. Surviving homozygotes develop obesity and show an abnormal gait, decreased grip strength, and impaired balance. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700067P10Rik C A 17: 48,400,847 (GRCm39) T44K probably benign Het
Ablim2 A G 5: 36,014,508 (GRCm39) D189G probably benign Het
Abo A G 2: 26,733,365 (GRCm39) V278A possibly damaging Het
Anxa1 A G 19: 20,355,064 (GRCm39) F237L possibly damaging Het
Atp11b A G 3: 35,868,326 (GRCm39) Y466C possibly damaging Het
Cfh T A 1: 140,046,428 (GRCm39) K531N possibly damaging Het
Cgref1 G T 5: 31,102,728 (GRCm39) P31Q probably damaging Het
Clca3a2 G A 3: 144,516,531 (GRCm39) A355V probably damaging Het
Cntnap5c T A 17: 58,620,707 (GRCm39) C929S probably damaging Het
Col6a6 A T 9: 105,661,116 (GRCm39) V331D probably damaging Het
Cyp4a12b T A 4: 115,295,301 (GRCm39) V469E possibly damaging Het
Dchs2 A G 3: 83,263,043 (GRCm39) S3104G probably benign Het
Ddx24 G T 12: 103,374,559 (GRCm39) A875E probably damaging Het
Dsc1 A T 18: 20,243,299 (GRCm39) N51K probably damaging Het
Efcab3 T C 11: 104,927,595 (GRCm39) I4788T probably benign Het
Epb41l3 C T 17: 69,593,793 (GRCm39) T537I probably damaging Het
Epb41l3 A G 17: 69,591,637 (GRCm39) E708G probably damaging Het
Fam162b A T 10: 51,466,403 (GRCm39) C39S probably benign Het
Garre1 G A 7: 33,944,888 (GRCm39) A452V possibly damaging Het
Gbf1 T C 19: 46,253,687 (GRCm39) I531T probably damaging Het
Glipr1l2 T C 10: 111,919,423 (GRCm39) V48A probably benign Het
Gorasp1 A G 9: 119,759,072 (GRCm39) V177A probably damaging Het
Gys1 A G 7: 45,104,712 (GRCm39) probably null Het
Hif1a T A 12: 73,988,574 (GRCm39) V523E probably damaging Het
Hnrnph3 A T 10: 62,854,641 (GRCm39) probably benign Het
Lcn9 C A 2: 25,714,737 (GRCm39) L159I possibly damaging Het
Luzp1 C T 4: 136,268,791 (GRCm39) A338V probably benign Het
Map3k10 A T 7: 27,356,247 (GRCm39) S891T probably damaging Het
Mmrn2 C T 14: 34,119,548 (GRCm39) Q97* probably null Het
Mov10 G A 3: 104,725,266 (GRCm39) probably benign Het
Ncam1 A C 9: 49,455,966 (GRCm39) Y551D probably damaging Het
Ncf1 A T 5: 134,252,341 (GRCm39) Y237N probably damaging Het
Nipbl A T 15: 8,325,052 (GRCm39) I2537N probably damaging Het
Nlrp1b A T 11: 71,107,836 (GRCm39) V555E possibly damaging Het
Nod2 T C 8: 89,391,042 (GRCm39) Y428H probably damaging Het
Nup133 C A 8: 124,641,335 (GRCm39) A862S probably damaging Het
Pcdhgb2 T A 18: 37,823,078 (GRCm39) L23* probably null Het
Pclo A G 5: 14,861,714 (GRCm39) E4889G unknown Het
Plcd3 T A 11: 102,971,227 (GRCm39) I110F possibly damaging Het
Plxna2 C A 1: 194,493,279 (GRCm39) N1851K possibly damaging Het
Ppp5c C T 7: 16,761,832 (GRCm39) probably benign Het
Pramel25 T G 4: 143,520,550 (GRCm39) S101A possibly damaging Het
Prg4 T A 1: 150,325,748 (GRCm39) Y1009F possibly damaging Het
Rcor3 A T 1: 191,804,240 (GRCm39) M303K probably benign Het
Rrn3 G A 16: 13,624,468 (GRCm39) M433I probably benign Het
Serpinb9e G A 13: 33,441,757 (GRCm39) V230M probably benign Het
Shisa6 T A 11: 66,115,800 (GRCm39) H279L probably damaging Het
Slc38a11 A T 2: 65,165,089 (GRCm39) I234N probably damaging Het
Socs1 G C 16: 10,602,394 (GRCm39) F114L probably damaging Het
Ssc5d C T 7: 4,945,743 (GRCm39) T925M possibly damaging Het
Stc1 T C 14: 69,269,887 (GRCm39) S156P probably damaging Het
Ttc5 C G 14: 51,015,303 (GRCm39) V103L probably damaging Het
Vmn1r73 A G 7: 11,490,538 (GRCm39) T119A probably benign Het
Vmn2r99 G A 17: 19,599,242 (GRCm39) D309N probably benign Het
Vps53 T C 11: 75,957,693 (GRCm39) H353R possibly damaging Het
Ythdf3 T A 3: 16,257,356 (GRCm39) Y47* probably null Het
Zfp276 T C 8: 123,994,562 (GRCm39) M543T probably damaging Het
Other mutations in Ppp2r5c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01548:Ppp2r5c APN 12 110,534,261 (GRCm39) missense probably benign 0.09
IGL01743:Ppp2r5c APN 12 110,546,868 (GRCm39) missense probably benign 0.00
IGL01866:Ppp2r5c APN 12 110,534,261 (GRCm39) missense probably benign 0.24
IGL02883:Ppp2r5c APN 12 110,488,997 (GRCm39) missense possibly damaging 0.48
IGL02944:Ppp2r5c APN 12 110,534,234 (GRCm39) missense probably benign 0.02
Abscond UTSW 12 110,510,511 (GRCm39) missense probably benign 0.02
Cranraisin UTSW 12 110,510,579 (GRCm39) missense probably damaging 1.00
elope UTSW 12 110,527,906 (GRCm39) splice site probably benign
FR4976:Ppp2r5c UTSW 12 110,507,172 (GRCm39) splice site probably null
R0020:Ppp2r5c UTSW 12 110,541,257 (GRCm39) nonsense probably null
R0069:Ppp2r5c UTSW 12 110,534,204 (GRCm39) missense probably benign 0.01
R0069:Ppp2r5c UTSW 12 110,534,204 (GRCm39) missense probably benign 0.01
R0456:Ppp2r5c UTSW 12 110,489,013 (GRCm39) missense probably damaging 0.99
R1521:Ppp2r5c UTSW 12 110,521,320 (GRCm39) missense probably damaging 1.00
R1697:Ppp2r5c UTSW 12 110,527,906 (GRCm39) splice site probably benign
R1697:Ppp2r5c UTSW 12 110,512,057 (GRCm39) nonsense probably null
R2248:Ppp2r5c UTSW 12 110,452,357 (GRCm39) missense probably benign 0.00
R3817:Ppp2r5c UTSW 12 110,510,621 (GRCm39) critical splice donor site probably null
R4491:Ppp2r5c UTSW 12 110,546,956 (GRCm39) missense possibly damaging 0.69
R5575:Ppp2r5c UTSW 12 110,519,266 (GRCm39) missense probably damaging 1.00
R5828:Ppp2r5c UTSW 12 110,537,134 (GRCm39) missense probably benign 0.01
R6351:Ppp2r5c UTSW 12 110,521,313 (GRCm39) missense probably damaging 1.00
R6807:Ppp2r5c UTSW 12 110,535,456 (GRCm39) missense possibly damaging 0.80
R6976:Ppp2r5c UTSW 12 110,510,579 (GRCm39) missense probably damaging 1.00
R7236:Ppp2r5c UTSW 12 110,432,323 (GRCm39) missense probably benign 0.01
R7360:Ppp2r5c UTSW 12 110,541,272 (GRCm39) missense probably benign
R7363:Ppp2r5c UTSW 12 110,489,041 (GRCm39) missense probably benign 0.01
R7467:Ppp2r5c UTSW 12 110,519,317 (GRCm39) missense probably damaging 1.00
R7948:Ppp2r5c UTSW 12 110,432,420 (GRCm39) missense probably benign
R8117:Ppp2r5c UTSW 12 110,517,519 (GRCm39) missense possibly damaging 0.47
R8310:Ppp2r5c UTSW 12 110,512,259 (GRCm39) missense possibly damaging 0.95
R8352:Ppp2r5c UTSW 12 110,510,511 (GRCm39) missense probably benign 0.02
R8452:Ppp2r5c UTSW 12 110,510,511 (GRCm39) missense probably benign 0.02
R8692:Ppp2r5c UTSW 12 110,489,032 (GRCm39) missense probably benign 0.00
R8858:Ppp2r5c UTSW 12 110,519,329 (GRCm39) critical splice donor site probably null
R9108:Ppp2r5c UTSW 12 110,521,303 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GTCCCTTTCTAGCAGCCTACAG -3'
(R):5'- TTCCTAGCAATCCGATGGC -3'

Sequencing Primer
(F):5'- AAGCGTGTCTCCCACTACGTG -3'
(R):5'- TAGCAATCCGATGGCTCAGC -3'
Posted On 2017-07-14