Incidental Mutation 'IGL00496:Ppp3r2'
ID13142
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ppp3r2
Ensembl Gene ENSMUSG00000028310
Gene Nameprotein phosphatase 3, regulatory subunit B, alpha isoform (calcineurin B, type II)
SynonymsCnB2, CaNB2, PP2B beta 2
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.131) question?
Stock #IGL00496
Quality Score
Status
Chromosome4
Chromosomal Location49678747-49682024 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 49681773 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Threonine at position 59 (I59T)
Ref Sequence ENSEMBL: ENSMUSP00000029991 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029991] [ENSMUST00000076674] [ENSMUST00000093859]
Predicted Effect possibly damaging
Transcript: ENSMUST00000029991
AA Change: I59T

PolyPhen 2 Score 0.843 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000029991
Gene: ENSMUSG00000028310
AA Change: I59T

DomainStartEndE-ValueType
EFh 22 50 1.72e0 SMART
EFh 54 82 2.37e-3 SMART
EFh 91 119 4.19e-4 SMART
EFh 132 160 1.73e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000076674
SMART Domains Protein: ENSMUSP00000075970
Gene: ENSMUSG00000039579

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
low complexity region 161 181 N/A INTRINSIC
Lig_chan-Glu_bd 557 622 9.62e-22 SMART
PBPe 565 910 1.43e-73 SMART
transmembrane domain 934 956 N/A INTRINSIC
coiled coil region 1063 1105 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000093859
SMART Domains Protein: ENSMUSP00000091381
Gene: ENSMUSG00000039579

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
low complexity region 161 181 N/A INTRINSIC
Lig_chan-Glu_bd 557 622 9.62e-22 SMART
PBPe 565 910 1.43e-73 SMART
transmembrane domain 934 956 N/A INTRINSIC
coiled coil region 1083 1125 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit male infertility due to reduced hyperactivated sperm motility and midpiece rigidity. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933434E20Rik G A 3: 90,053,093 V14M possibly damaging Het
Adgrg6 C A 10: 14,450,578 probably null Het
Ankmy1 A G 1: 92,886,266 L397P probably damaging Het
Atp6v1c1 A G 15: 38,686,856 K232E probably damaging Het
Cnfn G T 7: 25,367,960 probably benign Het
Copb2 A G 9: 98,570,318 T52A probably benign Het
Daw1 A C 1: 83,197,236 L152F probably damaging Het
Gpr87 A T 3: 59,179,790 I98K probably damaging Het
Il17a G A 1: 20,732,283 R72H probably damaging Het
Lmtk2 A G 5: 144,174,694 Q744R probably benign Het
Micall1 G A 15: 79,115,021 probably benign Het
Micall2 T C 5: 139,716,328 T387A probably benign Het
Nckap1 T A 2: 80,506,202 I1057F possibly damaging Het
Nr1h3 T C 2: 91,190,199 D263G probably damaging Het
Nrip1 A T 16: 76,293,703 V322E possibly damaging Het
Pck1 T C 2: 173,154,118 probably null Het
Pradc1 A G 6: 85,447,966 probably null Het
Psmd14 A G 2: 61,760,682 Y32C probably damaging Het
Rrp12 A C 19: 41,878,027 probably null Het
Scaf8 A T 17: 3,171,134 I299F unknown Het
Selenoo A G 15: 89,095,672 D341G probably damaging Het
Slc1a6 C A 10: 78,793,308 N186K probably damaging Het
Smarcc2 T A 10: 128,463,055 S102R probably damaging Het
Stambpl1 T A 19: 34,240,030 V423E probably damaging Het
Svep1 A C 4: 58,069,001 C2928W possibly damaging Het
Tmed9 T C 13: 55,593,521 Y43H probably benign Het
Ttn T C 2: 76,740,747 T24855A possibly damaging Het
Usp7 A G 16: 8,695,113 V795A probably damaging Het
Wdr17 A C 8: 54,659,579 probably benign Het
Other mutations in Ppp3r2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03371:Ppp3r2 APN 4 49681630 missense probably damaging 1.00
R0365:Ppp3r2 UTSW 4 49681902 missense possibly damaging 0.77
R0928:Ppp3r2 UTSW 4 49681439 critical splice donor site probably null
R1957:Ppp3r2 UTSW 4 49681726 missense probably damaging 1.00
R2021:Ppp3r2 UTSW 4 49681723 missense probably benign 0.02
R2022:Ppp3r2 UTSW 4 49681723 missense probably benign 0.02
R2023:Ppp3r2 UTSW 4 49681723 missense probably benign 0.02
R6102:Ppp3r2 UTSW 4 49682022 intron probably benign
R6385:Ppp3r2 UTSW 4 49681767 missense possibly damaging 0.87
Posted On2012-12-06