Incidental Mutation 'IGL01526:Ppp1r3b'
ID89558
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ppp1r3b
Ensembl Gene ENSMUSG00000046794
Gene Nameprotein phosphatase 1, regulatory (inhibitor) subunit 3B
SynonymsGL
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.377) question?
Stock #IGL01526
Quality Score
Status
Chromosome8
Chromosomal Location35375739-35388139 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 35384718 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Leucine at position 237 (R237L)
Ref Sequence ENSEMBL: ENSMUSP00000147633 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070481] [ENSMUST00000210337] [ENSMUST00000211648]
Predicted Effect probably benign
Transcript: ENSMUST00000070481
AA Change: R237L

PolyPhen 2 Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000065679
Gene: ENSMUSG00000046794
AA Change: R237L

DomainStartEndE-ValueType
Pfam:CBM_21 126 232 1e-38 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000210337
AA Change: R237L

PolyPhen 2 Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)
Predicted Effect probably benign
Transcript: ENSMUST00000211648
AA Change: R237L

PolyPhen 2 Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1500002C15Rik G T 4: 155,734,171 probably benign Het
4933430I17Rik G T 4: 62,532,621 R107L possibly damaging Het
9130204L05Rik T A 3: 91,088,305 probably benign Het
Acvr1 A T 2: 58,458,985 D388E probably benign Het
Art3 T C 5: 92,414,340 S354P probably damaging Het
Bpnt1 C A 1: 185,345,394 S102* probably null Het
C530008M17Rik T A 5: 76,857,631 M613K unknown Het
Ces1a G T 8: 93,045,098 P24T probably damaging Het
Cfap65 A T 1: 74,911,078 S1171T probably damaging Het
Csn2 T C 5: 87,694,979 H47R possibly damaging Het
Gm14496 T A 2: 181,995,665 D177E probably benign Het
Hmbs A G 9: 44,339,548 V126A possibly damaging Het
Ica1l A G 1: 60,015,757 M105T probably damaging Het
Morc2a G A 11: 3,650,428 E17K probably benign Het
Mroh8 T C 2: 157,238,312 probably benign Het
Mroh9 G T 1: 163,055,603 L436I probably damaging Het
Nup54 T C 5: 92,417,475 D461G probably benign Het
Olfr1123 A T 2: 87,418,975 D309V probably damaging Het
Olfr315 A G 11: 58,778,297 T57A probably benign Het
Pcid2 G A 8: 13,085,319 probably benign Het
Prdm11 A G 2: 93,012,757 V119A probably damaging Het
Serpina5 T A 12: 104,101,890 V70E probably damaging Het
Skap2 C T 6: 51,907,914 D249N probably benign Het
Slc22a29 A T 19: 8,207,178 probably benign Het
Slc4a1ap C A 5: 31,528,227 T283K possibly damaging Het
Slc6a21 T G 7: 45,287,796 I575S probably damaging Het
Smpd1 T G 7: 105,554,775 W82G probably benign Het
Snx14 T A 9: 88,381,500 M897L probably damaging Het
Tjp1 A G 7: 65,322,658 V586A probably damaging Het
Tmc8 T C 11: 117,792,084 probably benign Het
Trim34a A G 7: 104,260,499 Y298C probably damaging Het
Ube3c T C 5: 29,667,962 V1000A probably damaging Het
Other mutations in Ppp1r3b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01017:Ppp1r3b APN 8 35384322 missense probably benign 0.16
IGL01417:Ppp1r3b APN 8 35384412 missense probably damaging 1.00
IGL02286:Ppp1r3b APN 8 35384361 missense probably benign 0.01
IGL02429:Ppp1r3b APN 8 35384615 missense probably benign 0.00
IGL03371:Ppp1r3b APN 8 35384249 missense possibly damaging 0.94
R0091:Ppp1r3b UTSW 8 35384667 missense probably damaging 0.99
R0234:Ppp1r3b UTSW 8 35384501 missense probably damaging 1.00
R0234:Ppp1r3b UTSW 8 35384501 missense probably damaging 1.00
R0512:Ppp1r3b UTSW 8 35384417 missense probably damaging 1.00
R2212:Ppp1r3b UTSW 8 35384225 missense possibly damaging 0.92
R6008:Ppp1r3b UTSW 8 35384201 missense probably damaging 1.00
R6915:Ppp1r3b UTSW 8 35384667 missense probably damaging 0.99
R7873:Ppp1r3b UTSW 8 35384175 missense probably benign 0.01
Posted On2013-12-03