Incidental Mutation 'IGL03371:Ppp3r2'
ID420286
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 #IGL03371
Quality Score
Status
Chromosome4
Chromosomal Location49678747-49682024 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 49681630 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 107 (I107F)
Ref Sequence ENSEMBL: ENSMUSP00000029991 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029991] [ENSMUST00000076674] [ENSMUST00000093859]
Predicted Effect probably damaging
Transcript: ENSMUST00000029991
AA Change: I107F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000029991
Gene: ENSMUSG00000028310
AA Change: I107F

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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agk C T 6: 40,394,642 R358C probably benign Het
Ahnak G T 19: 9,004,228 V959F possibly damaging Het
Aoc1 C T 6: 48,906,446 R419C probably benign Het
Brf2 T C 8: 27,125,844 D171G probably benign Het
Cnot1 T C 8: 95,774,716 I75V possibly damaging Het
D430041D05Rik A G 2: 104,248,374 V1199A probably damaging Het
Dpp9 G A 17: 56,187,377 H861Y probably benign Het
Eddm3b G A 14: 51,116,965 D137N probably damaging Het
Erich3 A T 3: 154,727,477 I363F probably damaging Het
F13b T A 1: 139,506,936 C147S probably damaging Het
Fam186b T C 15: 99,280,377 E356G probably benign Het
Fat2 T A 11: 55,311,164 R361S probably benign Het
Fat4 A T 3: 38,983,187 I3663F possibly damaging Het
Haus3 C A 5: 34,166,343 E308* probably null Het
Ifna11 A G 4: 88,820,175 K73E probably benign Het
Itga10 A G 3: 96,654,788 K664E possibly damaging Het
L3mbtl4 G A 17: 68,461,568 V224M probably damaging Het
Mcf2l C A 8: 13,001,298 A378D probably damaging Het
Mixl1 T C 1: 180,694,626 N230S probably benign Het
Ncbp1 T A 4: 46,171,991 C786* probably null Het
Nup153 C T 13: 46,683,152 S1327N probably benign Het
Olfr1049 A T 2: 86,255,591 I34N possibly damaging Het
Olfr1255 A T 2: 89,817,165 T280S possibly damaging Het
Osr2 C A 15: 35,300,854 Y185* probably null Het
Ppp1r3b T C 8: 35,384,249 F81L possibly damaging Het
Rin2 G A 2: 145,885,926 probably benign Het
Rpap1 A T 2: 119,775,057 probably benign Het
Slc12a4 A G 8: 105,950,505 Y466H probably null Het
Slc25a40 C T 5: 8,427,442 P9L probably benign Het
Slc27a1 T C 8: 71,585,408 S567P probably benign Het
Sox8 G A 17: 25,567,440 R430C probably damaging Het
Tacc2 T C 7: 130,626,061 V1492A possibly damaging Het
Taf5l A G 8: 123,997,986 S365P possibly damaging Het
Tet2 T A 3: 133,467,551 H1650L possibly damaging Het
Tmem117 G A 15: 95,011,393 R229H probably damaging Het
Ttc17 A G 2: 94,386,105 L79P probably damaging Het
Usp54 A T 14: 20,589,368 probably benign Het
Zfp455 T A 13: 67,207,002 C111* probably null Het
Zmym4 A C 4: 126,915,088 C389G possibly damaging Het
Other mutations in Ppp3r2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00496:Ppp3r2 APN 4 49681773 missense possibly damaging 0.84
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 On2016-08-02