Incidental Mutation 'R4491:Ppp2r5c'
ID 330746
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 041747-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4491 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 110413554-110549496 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 110546956 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 522 (D522V)
Ref Sequence ENSEMBL: ENSMUSP00000082053 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084985] [ENSMUST00000109832] [ENSMUST00000221074]
AlphaFold Q60996
Predicted Effect possibly damaging
Transcript: ENSMUST00000084985
AA Change: D522V

PolyPhen 2 Score 0.691 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000082053
Gene: ENSMUSG00000017843
AA Change: D522V

DomainStartEndE-ValueType
Pfam:B56 27 437 1.6e-199 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000109832
AA Change: D483V

PolyPhen 2 Score 0.081 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000105458
Gene: ENSMUSG00000017843
AA Change: D483V

DomainStartEndE-ValueType
Pfam:B56 26 438 3e-178 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000221074
Meta Mutation Damage Score 0.1087 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.8%
Validation Efficiency 98% (64/65)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik C A 5: 64,055,812 (GRCm39) P183T probably damaging Het
Bcan G A 3: 87,897,540 (GRCm39) R682* probably null Het
Bzw1 T A 1: 58,443,418 (GRCm39) L410Q probably damaging Het
Cdh5 A T 8: 104,839,672 (GRCm39) I48F probably damaging Het
Cdhr5 T C 7: 140,853,970 (GRCm39) N173D possibly damaging Het
Cfap74 T C 4: 155,513,628 (GRCm39) M480T probably benign Het
Col6a5 C T 9: 105,817,211 (GRCm39) A367T unknown Het
Cpsf1 A C 15: 76,481,922 (GRCm39) Y1064D possibly damaging Het
Defb6 A T 8: 19,278,090 (GRCm39) H54L probably benign Het
Dmtf1 A G 5: 9,190,379 (GRCm39) probably benign Het
Dnah12 T C 14: 26,455,758 (GRCm39) L827S possibly damaging Het
Dnai4 T C 4: 102,923,596 (GRCm39) E411G probably benign Het
Dsc3 T C 18: 20,134,922 (GRCm39) T21A probably benign Het
Epb41l1 G T 2: 156,364,088 (GRCm39) D866Y probably benign Het
Epha1 T C 6: 42,337,600 (GRCm39) M860V probably damaging Het
Far2 T C 6: 148,074,907 (GRCm39) L380P possibly damaging Het
Fgd5 A G 6: 91,966,280 (GRCm39) I680V possibly damaging Het
Fnbp4 T C 2: 90,583,312 (GRCm39) probably null Het
Focad G A 4: 88,278,142 (GRCm39) probably null Het
Gm14180 T A 11: 99,621,139 (GRCm39) probably benign Het
Hbb-bh2 T C 7: 103,489,622 (GRCm39) T5A probably benign Het
Ighv7-2 A G 12: 113,876,100 (GRCm39) F2L probably benign Het
Igsf5 A G 16: 96,165,281 (GRCm39) T19A probably benign Het
Kcnd3 C T 3: 105,566,082 (GRCm39) A421V probably damaging Het
Klb A G 5: 65,533,137 (GRCm39) N482S probably benign Het
Lipo2 A C 19: 33,699,100 (GRCm39) L310R probably damaging Het
Mc3r A G 2: 172,091,123 (GRCm39) H115R possibly damaging Het
Meioc A G 11: 102,565,746 (GRCm39) D398G possibly damaging Het
Or10ag60 G A 2: 87,437,736 (GRCm39) M1I probably null Het
Or56a5 A T 7: 104,792,983 (GRCm39) C172* probably null Het
Or7a37 T C 10: 78,806,151 (GRCm39) S223P probably damaging Het
Pds5a T C 5: 65,792,780 (GRCm39) T718A probably benign Het
Pdzd2 C T 15: 12,385,723 (GRCm39) D1016N possibly damaging Het
Pla2g2c T C 4: 138,461,719 (GRCm39) probably null Het
Plch1 T C 3: 63,648,160 (GRCm39) I404V probably damaging Het
Pou2af3 A G 9: 51,181,955 (GRCm39) F206L probably benign Het
Prex2 T A 1: 11,232,487 (GRCm39) S851R probably benign Het
Rapgef1 C T 2: 29,609,668 (GRCm39) P702S possibly damaging Het
Rasal3 T A 17: 32,610,359 (GRCm39) D976V probably damaging Het
Rasef A C 4: 73,652,740 (GRCm39) L587R probably damaging Het
Rptn A T 3: 93,303,818 (GRCm39) R384* probably null Het
Sema6a G A 18: 47,439,524 (GRCm39) probably benign Het
Sycp2 G T 2: 178,016,778 (GRCm39) T608K probably damaging Het
Syde1 C T 10: 78,426,062 (GRCm39) R35H probably benign Het
Taf1 G T X: 100,586,665 (GRCm39) M313I possibly damaging Het
Taf15 A T 11: 83,375,520 (GRCm39) T31S probably benign Het
Tktl2 T C 8: 66,964,664 (GRCm39) V74A probably damaging Het
Tle4 A G 19: 14,432,229 (GRCm39) V489A probably damaging Het
Tmem30a T C 9: 79,684,567 (GRCm39) H95R probably damaging Het
Trmt9b G A 8: 36,972,760 (GRCm39) C70Y probably damaging Het
Vmn1r75 C A 7: 11,614,909 (GRCm39) Q214K probably damaging Het
Vps13c C T 9: 67,817,475 (GRCm39) T1049M probably benign Het
Zfp37 T C 4: 62,110,365 (GRCm39) Q274R probably benign Het
Zfp648 T G 1: 154,080,873 (GRCm39) L344R 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
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
R6059:Ppp2r5c UTSW 12 110,541,222 (GRCm39) missense probably benign
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'- TCGGTTAGCCTAGTGCATAGC -3'
(R):5'- GTGATGACACTGTCACCGAC -3'

Sequencing Primer
(F):5'- GTTAGCCTAGTGCATAGCCAACTG -3'
(R):5'- GCCAGAGAAGCCACCATTGTTTG -3'
Posted On 2015-07-21