Incidental Mutation 'IGL03371:Ppp3r2'
ID 420286
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ppp3r2
Ensembl Gene ENSMUSG00000028310
Gene Name protein phosphatase 3, regulatory subunit B, alpha isoform (calcineurin B, type II)
Synonyms CnB2, CaNB2, PP2B beta 2
Accession Numbers
Essential gene? Probably non essential (E-score: 0.073) question?
Stock # IGL03371
Quality Score
Status
Chromosome 4
Chromosomal Location 49678747-49681983 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 49681630 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q63811
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: 40,371,576 (GRCm39) R358C probably benign Het
Ahnak G T 19: 8,981,592 (GRCm39) V959F possibly damaging Het
Aoc1 C T 6: 48,883,380 (GRCm39) R419C probably benign Het
Brf2 T C 8: 27,615,872 (GRCm39) D171G probably benign Het
Cnot1 T C 8: 96,501,344 (GRCm39) I75V possibly damaging Het
D430041D05Rik A G 2: 104,078,719 (GRCm39) V1199A probably damaging Het
Dpp9 G A 17: 56,494,377 (GRCm39) H861Y probably benign Het
Eddm3b G A 14: 51,354,422 (GRCm39) D137N probably damaging Het
Erich3 A T 3: 154,433,114 (GRCm39) I363F probably damaging Het
F13b T A 1: 139,434,674 (GRCm39) C147S probably damaging Het
Fam186b T C 15: 99,178,258 (GRCm39) E356G probably benign Het
Fat2 T A 11: 55,201,990 (GRCm39) R361S probably benign Het
Fat4 A T 3: 39,037,336 (GRCm39) I3663F possibly damaging Het
Haus3 C A 5: 34,323,687 (GRCm39) E308* probably null Het
Ifna11 A G 4: 88,738,412 (GRCm39) K73E probably benign Het
Itga10 A G 3: 96,562,104 (GRCm39) K664E possibly damaging Het
L3mbtl4 G A 17: 68,768,563 (GRCm39) V224M probably damaging Het
Mcf2l C A 8: 13,051,298 (GRCm39) A378D probably damaging Het
Mixl1 T C 1: 180,522,191 (GRCm39) N230S probably benign Het
Ncbp1 T A 4: 46,171,991 (GRCm39) C786* probably null Het
Nup153 C T 13: 46,836,628 (GRCm39) S1327N probably benign Het
Or4c12b A T 2: 89,647,509 (GRCm39) T280S possibly damaging Het
Or8k18 A T 2: 86,085,935 (GRCm39) I34N possibly damaging Het
Osr2 C A 15: 35,301,000 (GRCm39) Y185* probably null Het
Ppp1r3b T C 8: 35,851,403 (GRCm39) F81L possibly damaging Het
Rin2 G A 2: 145,727,846 (GRCm39) probably benign Het
Rpap1 A T 2: 119,605,538 (GRCm39) probably benign Het
Slc12a4 A G 8: 106,677,137 (GRCm39) Y466H probably null Het
Slc25a40 C T 5: 8,477,442 (GRCm39) P9L probably benign Het
Slc27a1 T C 8: 72,038,052 (GRCm39) S567P probably benign Het
Sox8 G A 17: 25,786,414 (GRCm39) R430C probably damaging Het
Tacc2 T C 7: 130,227,791 (GRCm39) V1492A possibly damaging Het
Taf5l A G 8: 124,724,725 (GRCm39) S365P possibly damaging Het
Tet2 T A 3: 133,173,312 (GRCm39) H1650L possibly damaging Het
Tmem117 G A 15: 94,909,274 (GRCm39) R229H probably damaging Het
Ttc17 A G 2: 94,216,450 (GRCm39) L79P probably damaging Het
Usp54 A T 14: 20,639,436 (GRCm39) probably benign Het
Zfp455 T A 13: 67,355,066 (GRCm39) C111* probably null Het
Zmym4 A C 4: 126,808,881 (GRCm39) C389G possibly damaging Het
Other mutations in Ppp3r2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00496:Ppp3r2 APN 4 49,681,773 (GRCm39) missense possibly damaging 0.84
R0365:Ppp3r2 UTSW 4 49,681,902 (GRCm39) missense possibly damaging 0.77
R0928:Ppp3r2 UTSW 4 49,681,439 (GRCm39) critical splice donor site probably null
R1957:Ppp3r2 UTSW 4 49,681,726 (GRCm39) missense probably damaging 1.00
R2021:Ppp3r2 UTSW 4 49,681,723 (GRCm39) missense probably benign 0.02
R2022:Ppp3r2 UTSW 4 49,681,723 (GRCm39) missense probably benign 0.02
R2023:Ppp3r2 UTSW 4 49,681,723 (GRCm39) missense probably benign 0.02
R6102:Ppp3r2 UTSW 4 49,682,022 (GRCm39) intron probably benign
R6385:Ppp3r2 UTSW 4 49,681,767 (GRCm39) missense possibly damaging 0.87
R8046:Ppp3r2 UTSW 4 49,681,913 (GRCm39) nonsense probably null
R8315:Ppp3r2 UTSW 4 49,681,705 (GRCm39) missense probably damaging 1.00
Posted On 2016-08-02