Incidental Mutation 'IGL02429:Ppp1r3b'
ID 293055
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 # IGL02429
Quality Score
Status
Chromosome 8
Chromosomal Location 35842893-35855293 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 35851769 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 203 (S203P)
Ref Sequence ENSEMBL: ENSMUSP00000147633 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070481] [ENSMUST00000210337] [ENSMUST00000211648]
AlphaFold Q8C767
Predicted Effect probably benign
Transcript: ENSMUST00000070481
AA Change: S203P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000065679
Gene: ENSMUSG00000046794
AA Change: S203P

DomainStartEndE-ValueType
Pfam:CBM_21 126 232 1e-38 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000210337
AA Change: S203P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect probably benign
Transcript: ENSMUST00000211648
AA Change: S203P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acmsd A T 1: 127,687,453 (GRCm39) D245V probably damaging Het
Adamts16 G A 13: 70,935,289 (GRCm39) probably benign Het
Arhgap36 A G X: 48,583,583 (GRCm39) D77G possibly damaging Het
Asap1 A T 15: 64,039,589 (GRCm39) M187K probably damaging Het
Aspm T C 1: 139,407,548 (GRCm39) V2145A probably benign Het
Ccn6 T C 10: 39,030,989 (GRCm39) N178S probably benign Het
Cd46 T C 1: 194,767,732 (GRCm39) T110A probably benign Het
Chl1 T A 6: 103,641,770 (GRCm39) probably benign Het
Clca3b A G 3: 144,533,896 (GRCm39) L493S probably damaging Het
Col11a2 C T 17: 34,261,266 (GRCm39) T72M probably damaging Het
Cyfip1 T A 7: 55,521,730 (GRCm39) probably benign Het
Frmd4b T C 6: 97,302,390 (GRCm39) probably benign Het
Glyr1 A G 16: 4,837,240 (GRCm39) M397T probably benign Het
Golm2 A G 2: 121,742,468 (GRCm39) T306A probably benign Het
Gtf2a1l G T 17: 88,976,141 (GRCm39) M1I probably null Het
Hdac4 A G 1: 91,940,417 (GRCm39) L154P probably benign Het
Ints8 A T 4: 11,231,720 (GRCm39) C422S probably damaging Het
Kng2 T A 16: 22,830,829 (GRCm39) K160I probably damaging Het
Lrrc23 C A 6: 124,755,130 (GRCm39) A136S probably damaging Het
Ltf T C 9: 110,855,193 (GRCm39) I402T possibly damaging Het
Lyst G A 13: 13,835,541 (GRCm39) C1741Y probably benign Het
Mfsd4a T C 1: 131,956,237 (GRCm39) H509R probably benign Het
Mthfd1l A G 10: 4,039,334 (GRCm39) K782E probably damaging Het
Mvb12b G A 2: 33,717,800 (GRCm39) R114W probably damaging Het
Myh4 A T 11: 67,149,808 (GRCm39) K1818* probably null Het
Myo1h C T 5: 114,497,799 (GRCm39) probably benign Het
Ncapd3 T A 9: 27,000,598 (GRCm39) S1402T probably benign Het
Nutm2 A G 13: 50,623,516 (GRCm39) N71S probably benign Het
Oas1c C A 5: 120,940,133 (GRCm39) M344I probably benign Het
Or10g7 T A 9: 39,905,138 (GRCm39) F11I probably benign Het
Phldb1 A G 9: 44,612,247 (GRCm39) L1019P probably damaging Het
Plxnc1 T C 10: 94,718,453 (GRCm39) E494G probably benign Het
Pole T C 5: 110,447,666 (GRCm39) I734T probably benign Het
Pth2r G T 1: 65,385,998 (GRCm39) M240I probably benign Het
Ptprr T A 10: 116,109,672 (GRCm39) F394I probably damaging Het
Rabgef1 T C 5: 130,239,329 (GRCm39) S265P possibly damaging Het
Rbpjl A G 2: 164,255,815 (GRCm39) D353G possibly damaging Het
Rfc3 A G 5: 151,574,596 (GRCm39) Y8H probably benign Het
Rph3a A T 5: 121,118,187 (GRCm39) probably null Het
Runx1t1 A T 4: 13,865,294 (GRCm39) probably benign Het
Slc37a1 T A 17: 31,519,483 (GRCm39) probably null Het
Slc38a10 T C 11: 120,025,714 (GRCm39) probably benign Het
Slc38a6 T C 12: 73,397,342 (GRCm39) V328A probably benign Het
Slf2 T C 19: 44,930,167 (GRCm39) S415P probably benign Het
Spata17 C A 1: 186,872,631 (GRCm39) R60L possibly damaging Het
Svil T A 18: 5,118,369 (GRCm39) D2237E probably benign Het
Swap70 T A 7: 109,863,179 (GRCm39) N169K probably benign Het
Tnfrsf11a A G 1: 105,755,443 (GRCm39) D505G probably benign Het
Traf1 A G 2: 34,839,115 (GRCm39) V70A probably benign Het
Traf3 T A 12: 111,209,899 (GRCm39) V165E probably benign Het
Trpc5 T C X: 143,194,795 (GRCm39) E570G probably damaging Het
Ubash3a A G 17: 31,460,279 (GRCm39) N601S probably benign Het
Vmn2r30 C T 7: 7,337,243 (GRCm39) C131Y possibly damaging Het
Vmn2r43 T C 7: 8,258,551 (GRCm39) I221V probably benign Het
Vmn2r97 T A 17: 19,150,596 (GRCm39) V481E 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
IGL03371:Ppp1r3b APN 8 35,851,403 (GRCm39) missense possibly damaging 0.94
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 2015-04-16