Incidental Mutation 'IGL03371:Ppp1r3b'
ID 420297
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ppp1r3b
Ensembl Gene ENSMUSG00000046794
Gene Name protein phosphatase 1, regulatory subunit 3B
Synonyms GL
Accession Numbers
Essential gene? Probably non essential (E-score: 0.249) question?
Stock # IGL03371
Quality Score
Status
Chromosome 8
Chromosomal Location 35842893-35855293 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 35851403 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 81 (F81L)
Ref Sequence ENSEMBL: ENSMUSP00000147633 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070481] [ENSMUST00000210337] [ENSMUST00000211648]
AlphaFold Q8C767
Predicted Effect possibly damaging
Transcript: ENSMUST00000070481
AA Change: F81L

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000065679
Gene: ENSMUSG00000046794
AA Change: F81L

DomainStartEndE-ValueType
Pfam:CBM_21 126 232 1e-38 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000210337
AA Change: F81L

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211472
Predicted Effect possibly damaging
Transcript: ENSMUST00000211648
AA Change: F81L

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the catalytic subunit of the serine/theonine phosphatase, protein phosphatase-1. The encoded protein is expressed in liver and skeletal muscle tissue and may be involved in regulating glycogen synthesis in these tissues. This gene may be a involved in type 2 diabetes and maturity-onset diabetes of the young. Alternate splicing results in multiple transcript variants that encode the same protein.[provided by RefSeq, Jan 2011]
PHENOTYPE: Mice homozygous for a knock-in point mutation exhibit improved glucose tolerance and increased weight loss and serum glucose level in response to a 36 hour fast. [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
Ppp3r2 T A 4: 49,681,630 (GRCm39) I107F probably 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 Ppp1r3b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01017:Ppp1r3b APN 8 35,851,476 (GRCm39) missense probably benign 0.16
IGL01417:Ppp1r3b APN 8 35,851,566 (GRCm39) missense probably damaging 1.00
IGL01526:Ppp1r3b APN 8 35,851,872 (GRCm39) missense probably benign 0.07
IGL02286:Ppp1r3b APN 8 35,851,515 (GRCm39) missense probably benign 0.01
IGL02429:Ppp1r3b APN 8 35,851,769 (GRCm39) missense probably benign 0.00
R0091:Ppp1r3b UTSW 8 35,851,821 (GRCm39) missense probably damaging 0.99
R0234:Ppp1r3b UTSW 8 35,851,655 (GRCm39) missense probably damaging 1.00
R0234:Ppp1r3b UTSW 8 35,851,655 (GRCm39) missense probably damaging 1.00
R0512:Ppp1r3b UTSW 8 35,851,571 (GRCm39) missense probably damaging 1.00
R2212:Ppp1r3b UTSW 8 35,851,379 (GRCm39) missense possibly damaging 0.92
R6008:Ppp1r3b UTSW 8 35,851,355 (GRCm39) missense probably damaging 1.00
R6915:Ppp1r3b UTSW 8 35,851,821 (GRCm39) missense probably damaging 0.99
R7873:Ppp1r3b UTSW 8 35,851,329 (GRCm39) missense probably benign 0.01
R8832:Ppp1r3b UTSW 8 35,851,419 (GRCm39) missense probably damaging 0.98
Posted On 2016-08-02