Incidental Mutation 'R5499:Ppp2r3c'
ID 430532
Institutional Source Beutler Lab
Gene Symbol Ppp2r3c
Ensembl Gene ENSMUSG00000021022
Gene Name protein phosphatase 2, regulatory subunit B'', gamma
Synonyms G5pr, G4-1, 4930511A21Rik, 5730412A08Rik
MMRRC Submission 043060-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.963) question?
Stock # R5499 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 55327594-55350024 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 55335411 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 243 (I243V)
Ref Sequence ENSEMBL: ENSMUSP00000021410 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021410]
AlphaFold Q9JK24
Predicted Effect probably benign
Transcript: ENSMUST00000021410
AA Change: I243V

PolyPhen 2 Score 0.095 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000021410
Gene: ENSMUSG00000021022
AA Change: I243V

DomainStartEndE-ValueType
PDB:4I5K|B 188 437 1e-25 PDB
SCOP:d1dgua_ 258 413 4e-8 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219809
Coding Region Coverage
  • 1x: 98.3%
  • 3x: 97.3%
  • 10x: 95.3%
  • 20x: 91.0%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a regulatory subunit of the serine/threonine phosphatase, protein phosphatase 2. This protein is localized to both nuclear and cytoplasmic regions depending on cell cycle phase. Homozygous conditional knockout mice for this gene exhibit reduced numbers and impaired proliferation of immune system B cells. This protein may regulate the expression of the P-glycoprotein ATP-binding cassette transporter through its phosphatase activity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2015]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933409G03Rik G A 2: 68,432,137 (GRCm39) E74K unknown Het
Adam10 A T 9: 70,647,399 (GRCm39) H176L probably benign Het
Anapc5 C T 5: 122,926,476 (GRCm39) E621K probably damaging Het
Asf1a T A 10: 53,482,266 (GRCm39) L26Q probably damaging Het
Atxn1l A G 8: 110,458,264 (GRCm39) L666P probably damaging Het
Cep290 G A 10: 100,373,515 (GRCm39) R1265H probably damaging Het
Chd8 A G 14: 52,441,888 (GRCm39) probably null Het
Ctse T A 1: 131,600,251 (GRCm39) Y333* probably null Het
Diras2 C T 13: 52,661,786 (GRCm39) V174M probably benign Het
Dnah11 A T 12: 118,070,209 (GRCm39) V1532D possibly damaging Het
Dnai7 A T 6: 145,123,157 (GRCm39) W570R probably damaging Het
Ercc6 G A 14: 32,238,916 (GRCm39) M1I probably null Het
Fbxl4 A G 4: 22,386,017 (GRCm39) E208G probably damaging Het
Fstl4 G T 11: 52,959,374 (GRCm39) M138I probably benign Het
Galnt17 T A 5: 130,929,466 (GRCm39) Q447L probably benign Het
H2-Q7 T A 17: 35,658,916 (GRCm39) C122* probably null Het
Herpud1 C T 8: 95,116,041 (GRCm39) L69F probably damaging Het
Hnrnpa3 A G 2: 75,495,584 (GRCm39) Y365C probably benign Het
Ino80 A T 2: 119,272,128 (GRCm39) V553E probably damaging Het
Kif13a A G 13: 46,986,212 (GRCm39) Y38H probably damaging Het
Klk1b21 A G 7: 43,755,100 (GRCm39) I132V probably benign Het
Lamb2 T C 9: 108,365,001 (GRCm39) S1252P possibly damaging Het
Lct T A 1: 128,214,414 (GRCm39) D1786V probably damaging Het
Lrig2 T A 3: 104,368,873 (GRCm39) M572L probably benign Het
Lrp1 C T 10: 127,408,813 (GRCm39) V1710I possibly damaging Het
Mmp12 C A 9: 7,353,000 (GRCm39) S250R probably benign Het
Mycbp2 T C 14: 103,479,615 (GRCm39) D1226G probably damaging Het
Myocd A G 11: 65,069,575 (GRCm39) I755T possibly damaging Het
Nup210l T C 3: 90,081,677 (GRCm39) L1003P probably damaging Het
Or11h23 G A 14: 50,948,324 (GRCm39) C179Y probably damaging Het
Or1af1 T C 2: 37,109,777 (GRCm39) I92T possibly damaging Het
Or52e8b A T 7: 104,674,184 (GRCm39) M1K probably null Het
Palmd T A 3: 116,717,481 (GRCm39) M339L probably benign Het
Phtf1 T A 3: 103,898,491 (GRCm39) N307K probably benign Het
Ptafr A G 4: 132,306,646 (GRCm39) E12G probably damaging Het
Rpgrip1 T A 14: 52,378,042 (GRCm39) N463K probably benign Het
Sgcb T C 5: 73,801,748 (GRCm39) N39S probably damaging Het
Skint5 A G 4: 113,799,700 (GRCm39) probably null Het
Slc45a2 C T 15: 11,027,871 (GRCm39) T480I probably damaging Het
Slfn8 C A 11: 82,895,042 (GRCm39) S588I probably damaging Het
Tcea2 A G 2: 181,322,227 (GRCm39) I10V probably damaging Het
Tlr3 C T 8: 45,851,851 (GRCm39) D349N possibly damaging Het
Top2a C T 11: 98,913,202 (GRCm39) V77I probably benign Het
Vps51 T G 19: 6,121,063 (GRCm39) E283D probably benign Het
Vrk1 A G 12: 106,018,024 (GRCm39) K98E possibly damaging Het
Zcchc2 C T 1: 105,958,322 (GRCm39) T931I possibly damaging Het
Zfc3h1 T A 10: 115,246,598 (GRCm39) L895H probably damaging Het
Zfp101 T C 17: 33,601,318 (GRCm39) E108G probably benign Het
Zfp609 A G 9: 65,610,137 (GRCm39) V942A probably benign Het
Other mutations in Ppp2r3c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00928:Ppp2r3c APN 12 55,339,283 (GRCm39) splice site probably null
IGL01122:Ppp2r3c APN 12 55,344,587 (GRCm39) missense probably benign 0.20
IGL01954:Ppp2r3c APN 12 55,339,353 (GRCm39) missense probably damaging 1.00
IGL02939:Ppp2r3c APN 12 55,345,192 (GRCm39) unclassified probably benign
R0045:Ppp2r3c UTSW 12 55,340,606 (GRCm39) missense probably damaging 0.99
R0129:Ppp2r3c UTSW 12 55,345,207 (GRCm39) missense probably damaging 0.96
R2411:Ppp2r3c UTSW 12 55,345,269 (GRCm39) missense probably benign 0.19
R4468:Ppp2r3c UTSW 12 55,344,668 (GRCm39) nonsense probably null
R4746:Ppp2r3c UTSW 12 55,349,420 (GRCm39) splice site probably null
R5724:Ppp2r3c UTSW 12 55,344,617 (GRCm39) missense probably benign 0.45
R6724:Ppp2r3c UTSW 12 55,335,281 (GRCm39) missense probably benign 0.02
R6776:Ppp2r3c UTSW 12 55,345,252 (GRCm39) nonsense probably null
R7706:Ppp2r3c UTSW 12 55,328,490 (GRCm39) missense probably benign 0.23
R8111:Ppp2r3c UTSW 12 55,344,634 (GRCm39) missense probably benign
R8698:Ppp2r3c UTSW 12 55,328,499 (GRCm39) missense probably benign 0.10
R8892:Ppp2r3c UTSW 12 55,336,453 (GRCm39) missense possibly damaging 0.80
R9349:Ppp2r3c UTSW 12 55,345,268 (GRCm39) missense probably benign 0.36
RF006:Ppp2r3c UTSW 12 55,340,600 (GRCm39) missense probably benign 0.24
Predicted Primers PCR Primer
(F):5'- TTAGAAAGCAGAGCCTACCATAG -3'
(R):5'- TGCAGTTGGAGGCATTCAAG -3'

Sequencing Primer
(F):5'- GAGCCTACCATAGACCCTCAGG -3'
(R):5'- CAGAAGAGGGTGTCGTATTCCATTAC -3'
Posted On 2016-10-05