Incidental Mutation 'R6008:Ppp1r3b'
ID 479600
Institutional Source Beutler Lab
Gene Symbol Ppp1r3b
Ensembl Gene ENSMUSG00000046794
Gene Name protein phosphatase 1, regulatory subunit 3B
Synonyms GL
MMRRC Submission 044185-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.249) question?
Stock # R6008 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 35842893-35855293 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 35851355 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 65 (A65T)
Ref Sequence ENSEMBL: ENSMUSP00000147633 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070481] [ENSMUST00000210337] [ENSMUST00000211648]
AlphaFold Q8C767
Predicted Effect probably damaging
Transcript: ENSMUST00000070481
AA Change: A65T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000065679
Gene: ENSMUSG00000046794
AA Change: A65T

DomainStartEndE-ValueType
Pfam:CBM_21 126 232 1e-38 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000210337
AA Change: A65T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211472
Predicted Effect probably damaging
Transcript: ENSMUST00000211648
AA Change: A65T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.8575 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.8%
  • 20x: 93.2%
Validation Efficiency 98% (55/56)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc4 A G 14: 118,727,978 (GRCm39) L1268P possibly damaging Het
Acot3 T A 12: 84,103,860 (GRCm39) V223E probably damaging Het
Afap1 T G 5: 36,154,895 (GRCm39) S680A probably damaging Het
Aox1 C T 1: 58,116,672 (GRCm39) A801V probably damaging Het
Atp8b1 G T 18: 64,710,687 (GRCm39) T155K probably damaging Het
Bard1 C A 1: 71,069,909 (GRCm39) V690F possibly damaging Het
Btnl9 C A 11: 49,073,792 (GRCm39) probably null Het
C1rl A G 6: 124,470,147 (GRCm39) N13S probably benign Het
Cad C A 5: 31,226,456 (GRCm39) T1166K probably damaging Het
Ckap5 T A 2: 91,393,334 (GRCm39) M405K probably damaging Het
Csn1s1 T C 5: 87,825,944 (GRCm39) probably null Het
Ctnna2 A G 6: 76,892,811 (GRCm39) L792P probably damaging Het
Dennd3 T A 15: 73,438,929 (GRCm39) V1099D possibly damaging Het
Dnai2 A G 11: 114,643,816 (GRCm39) N482S probably benign Het
Dock10 T C 1: 80,583,890 (GRCm39) T184A probably damaging Het
Ear2 T A 14: 44,340,546 (GRCm39) L68H probably damaging Het
Edn3 A G 2: 174,621,525 (GRCm39) T149A probably benign Het
Erf C T 7: 24,945,041 (GRCm39) V131M probably benign Het
Esp34 A G 17: 38,865,118 (GRCm39) probably benign Het
Gm7247 C T 14: 51,601,805 (GRCm39) S26F probably benign Het
Golga1 A G 2: 38,937,099 (GRCm39) V161A probably benign Het
Gpr17 T A 18: 32,080,530 (GRCm39) T178S probably benign Het
Gsg1l2 T A 11: 67,665,537 (GRCm39) I35N possibly damaging Het
Hmgn3 T A 9: 82,994,284 (GRCm39) T46S probably damaging Het
Hydin A C 8: 111,325,717 (GRCm39) I4709L probably benign Het
Ifna9 A T 4: 88,510,600 (GRCm39) L8Q probably null Het
Iftap A T 2: 101,413,898 (GRCm39) M133K possibly damaging Het
Kpna4 T C 3: 69,034,066 (GRCm39) E125G probably null Het
Lrriq1 A G 10: 103,006,325 (GRCm39) S1267P probably damaging Het
Mab21l1 G T 3: 55,690,518 (GRCm39) C35F possibly damaging Het
Map3k2 A G 18: 32,336,104 (GRCm39) D97G probably damaging Het
Matcap2 G A 9: 22,335,422 (GRCm39) W13* probably null Het
Mdn1 T A 4: 32,741,073 (GRCm39) I3799N probably damaging Het
Mki67 G A 7: 135,299,158 (GRCm39) R1959C probably damaging Het
Mroh1 A T 15: 76,335,557 (GRCm39) H1400L possibly damaging Het
Mroh4 T A 15: 74,497,321 (GRCm39) K167* probably null Het
Mroh8 A G 2: 157,094,984 (GRCm39) I334T probably benign Het
Or51a25 T A 7: 102,373,574 (GRCm39) Y41F probably damaging Het
Phf11d T A 14: 59,602,898 (GRCm39) probably benign Het
Phf21a C T 2: 92,182,097 (GRCm39) T342I possibly damaging Het
Pira12 G T 7: 3,897,599 (GRCm39) H499N probably damaging Het
Plekhh3 T C 11: 101,055,591 (GRCm39) E483G possibly damaging Het
Pramel30 C T 4: 144,057,777 (GRCm39) T128I probably benign Het
Prkcq A G 2: 11,261,097 (GRCm39) H383R probably damaging Het
Pum1 T C 4: 130,496,158 (GRCm39) V961A probably damaging Het
Scgb2b27 T C 7: 33,711,561 (GRCm39) E96G probably benign Het
Sel1l2 T A 2: 140,086,025 (GRCm39) E522V probably damaging Het
Socs4 T G 14: 47,527,618 (GRCm39) C184W probably damaging Het
Spdye4c A T 2: 128,438,553 (GRCm39) I304F probably benign Het
Sptbn2 A G 19: 4,789,306 (GRCm39) I1249V possibly damaging Het
Sys1 T C 2: 164,306,507 (GRCm39) S154P probably benign Het
Taf6l T C 19: 8,755,530 (GRCm39) Q275R possibly damaging Het
Tas2r107 A G 6: 131,636,875 (GRCm39) V58A possibly damaging Het
Thada T A 17: 84,744,062 (GRCm39) I749F probably damaging Het
Tubb1 T A 2: 174,299,567 (GRCm39) H416Q probably benign Het
Vmn2r109 G A 17: 20,760,981 (GRCm39) T792I probably damaging Het
Zfp988 A G 4: 147,416,259 (GRCm39) Q231R probably benign Het
Zmynd8 T C 2: 165,684,707 (GRCm39) I182V possibly damaging Het
Zzz3 T C 3: 152,133,788 (GRCm39) V282A probably benign 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
R2212:Ppp1r3b UTSW 8 35,851,379 (GRCm39) missense possibly damaging 0.92
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'- TACAGCTACAGCAGTATGGCCC -3'
(R):5'- TCAGCACACAGTTTTCTAGGC -3'

Sequencing Primer
(F):5'- GCCCCTTCTTTACGCAGAGAG -3'
(R):5'- CACACAGTTTTCTAGGCAGACGTG -3'
Posted On 2017-06-26