Incidental Mutation 'R2212:Ppp1r3b'
ID 239454
Institutional Source Beutler Lab
Gene Symbol Ppp1r3b
Ensembl Gene ENSMUSG00000046794
Gene Name protein phosphatase 1, regulatory subunit 3B
Synonyms GL
MMRRC Submission 040214-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.218) question?
Stock # R2212 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 35842893-35855293 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 35851379 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 73 (T73A)
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: T73A

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000065679
Gene: ENSMUSG00000046794
AA Change: T73A

DomainStartEndE-ValueType
Pfam:CBM_21 126 232 1e-38 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000210337
AA Change: T73A

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211472
Predicted Effect possibly damaging
Transcript: ENSMUST00000211648
AA Change: T73A

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.2%
  • 20x: 94.9%
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700062C07Rik A G 18: 24,603,977 (GRCm39) Y6C probably damaging Het
3425401B19Rik T A 14: 32,383,559 (GRCm39) Q802L probably benign Het
Adarb2 T C 13: 8,802,654 (GRCm39) F643S probably damaging Het
Angptl4 A G 17: 33,994,392 (GRCm39) I401T probably damaging Het
Ap2a2 T A 7: 141,178,689 (GRCm39) N105K probably benign Het
Atp8b4 C A 2: 126,217,677 (GRCm39) W613L probably damaging Het
Cibar1 A G 4: 12,171,696 (GRCm39) probably null Het
Coq10a A G 10: 128,200,998 (GRCm39) V93A possibly damaging Het
Cyp4f39 A T 17: 32,706,037 (GRCm39) E376V possibly damaging Het
Deup1 A T 9: 15,511,139 (GRCm39) D213E probably benign Het
Ehmt2 A G 17: 35,118,341 (GRCm39) S39G probably benign Het
Eya1 T A 1: 14,344,433 (GRCm39) probably null Het
Fcna G C 2: 25,517,505 (GRCm39) P49A probably damaging Het
Flnb AAGGAG AAG 14: 7,881,652 (GRCm38) probably benign Het
Fscn2 G T 11: 120,252,417 (GRCm39) probably benign Het
Gckr T A 5: 31,458,211 (GRCm39) probably null Het
Golgb1 A G 16: 36,707,709 (GRCm39) K68E probably damaging Het
H2-M11 G A 17: 36,859,822 (GRCm39) V272M probably damaging Het
Hace1 T A 10: 45,524,771 (GRCm39) D234E possibly damaging Het
Il18r1 A T 1: 40,530,227 (GRCm39) D318V probably damaging Het
Il4i1 T C 7: 44,486,082 (GRCm39) L22P probably damaging Het
Kcnq3 A T 15: 65,892,142 (GRCm39) F411Y probably benign Het
Kcnt2 A G 1: 140,458,538 (GRCm39) Y775C probably damaging Het
Krt84 A C 15: 101,440,973 (GRCm39) V73G probably benign Het
Lcp2 A C 11: 34,020,995 (GRCm39) D117A probably benign Het
Lemd1 C A 1: 132,156,024 (GRCm39) T22K probably benign Het
Mdm4 T C 1: 132,922,260 (GRCm39) D294G probably damaging Het
Mep1a G A 17: 43,788,154 (GRCm39) A634V probably benign Het
Myh15 A G 16: 48,959,095 (GRCm39) D989G probably benign Het
Myo1g G T 11: 6,467,870 (GRCm39) H188Q possibly damaging Het
Nsmaf C A 4: 6,396,732 (GRCm39) L918F probably damaging Het
Or10d4 T A 9: 39,580,524 (GRCm39) M57K probably damaging Het
Or2v2 C T 11: 49,004,043 (GRCm39) C170Y probably damaging Het
Or51f5 T C 7: 102,423,962 (GRCm39) L77P possibly damaging Het
Or51q1 T C 7: 103,628,609 (GRCm39) L76P probably damaging Het
Pfkfb2 A T 1: 130,635,269 (GRCm39) N97K probably damaging Het
Phlda1 A T 10: 111,343,029 (GRCm39) E255V probably damaging Het
Pla2g4f T C 2: 120,133,587 (GRCm39) S579G probably benign Het
Plcz1 C T 6: 139,947,807 (GRCm39) R525Q probably damaging Het
Ppargc1b G A 18: 61,444,291 (GRCm39) Q291* probably null Het
Ppef2 T G 5: 92,376,581 (GRCm39) S649R probably damaging Het
Prss43 G C 9: 110,658,532 (GRCm39) Q277H probably damaging Het
Rusc2 T G 4: 43,415,935 (GRCm39) S414A probably damaging Het
Serpina3j G A 12: 104,280,985 (GRCm39) D53N probably damaging Het
Sez6l A G 5: 112,623,227 (GRCm39) L108P possibly damaging Het
Slc1a7 A G 4: 107,868,191 (GRCm39) E497G probably benign Het
Spag8 T A 4: 43,651,606 (GRCm39) S423C probably damaging Het
Spata13 A G 14: 60,944,172 (GRCm39) T522A probably benign Het
Spryd3 A G 15: 102,038,711 (GRCm39) probably null Het
Sry T A Y: 2,663,339 (GRCm39) N107I probably damaging Het
St6galnac1 A G 11: 116,656,682 (GRCm39) W486R probably damaging Het
Syt1 G T 10: 108,340,275 (GRCm39) P348T possibly damaging Het
Taok2 T C 7: 126,470,030 (GRCm39) I933V possibly damaging Het
Tex9 C A 9: 72,385,040 (GRCm39) Q265H possibly damaging Het
Tmem63a G A 1: 180,790,679 (GRCm39) D446N possibly damaging Het
Trim59 T C 3: 68,944,876 (GRCm39) T155A probably benign Het
Trim69 T C 2: 122,009,125 (GRCm39) V395A probably benign Het
Tusc1 C A 4: 93,223,173 (GRCm39) R162L probably damaging Het
Ubash3a A T 17: 31,437,008 (GRCm39) Q208H probably damaging Het
Ubn2 A G 6: 38,475,674 (GRCm39) T1211A probably benign Het
Vmn2r110 A T 17: 20,794,209 (GRCm39) probably null Het
Vrk3 C T 7: 44,424,866 (GRCm39) T427M probably benign Het
Zfyve28 C T 5: 34,357,028 (GRCm39) M723I probably benign Het
Zmynd8 A T 2: 165,657,371 (GRCm39) M533K probably 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
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
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
Predicted Primers PCR Primer
(F):5'- ACAGCTACAGCAGTATGGCC -3'
(R):5'- TTCAGCACACAGTTTTCTAGGCAG -3'

Sequencing Primer
(F):5'- GCCCCTTCTTTACGCAGAGAG -3'
(R):5'- CACACAGTTTTCTAGGCAGACGTG -3'
Posted On 2014-10-15