Incidental Mutation 'R6672:Ppp1r3d'
ID 527159
Institutional Source Beutler Lab
Gene Symbol Ppp1r3d
Ensembl Gene ENSMUSG00000049999
Gene Name protein phosphatase 1, regulatory subunit 3D
Synonyms 2610024M03Rik, LOC228966
MMRRC Submission 044792-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.313) question?
Stock # R6672 (G1)
Quality Score 96.0077
Status Validated
Chromosome 2
Chromosomal Location 178052999-178056256 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 178055552 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 150 (E150G)
Ref Sequence ENSEMBL: ENSMUSP00000061402 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058678] [ENSMUST00000094251]
AlphaFold A2AJW4
Predicted Effect possibly damaging
Transcript: ENSMUST00000058678
AA Change: E150G

PolyPhen 2 Score 0.558 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000061402
Gene: ENSMUSG00000049999
AA Change: E150G

DomainStartEndE-ValueType
low complexity region 31 46 N/A INTRINSIC
low complexity region 63 76 N/A INTRINSIC
Pfam:CBM_21 151 258 1e-30 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000094251
SMART Domains Protein: ENSMUSP00000091805
Gene: ENSMUSG00000070476

DomainStartEndE-ValueType
Pfam:FAM217 103 331 2.2e-91 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129003
Meta Mutation Damage Score 0.1629 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.4%
  • 20x: 95.6%
Validation Efficiency 100% (31/31)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Phosphorylation of serine and threonine residues in proteins is a crucial step in the regulation of many cellular functions ranging from hormonal regulation to cell division and even short-term memory. The level of phosphorylation is controlled by the opposing actions of protein kinases and protein phosphatases. Protein phosphatase 1 (PP1) is 1 of 4 major serine/threonine-specific protein phosphatases which have been identified in eukaryotic cells. PP1 associates with various regulatory subunits that dictate its subcellular localization and modulate its substrate specificity. Several subunits that target PP1 to glycogen have been identified. This gene encodes a glycogen-targeting subunit of PP1. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actmap C T 7: 26,903,489 (GRCm39) probably benign Het
Adam24 A G 8: 41,134,572 (GRCm39) E680G probably benign Het
Adam7 T A 14: 68,742,151 (GRCm39) probably null Het
Arid2 C T 15: 96,260,226 (GRCm39) T351I probably benign Het
Asz1 T A 6: 18,075,817 (GRCm39) E252V possibly damaging Het
Chrm5 C T 2: 112,310,141 (GRCm39) C325Y probably benign Het
Cimap1a A G 7: 140,428,340 (GRCm39) S25G probably benign Het
Cyp2c65 A G 19: 39,076,118 (GRCm39) R357G probably damaging Het
Dhx36 A G 3: 62,402,957 (GRCm39) V265A probably damaging Het
Dhx36 T A 3: 62,408,300 (GRCm39) E179D probably benign Het
Dip2c G A 13: 9,617,866 (GRCm39) probably null Het
Dock10 A T 1: 80,490,248 (GRCm39) M1958K probably benign Het
Dpf1 T C 7: 29,015,693 (GRCm39) C357R probably damaging Het
Dync1h1 C T 12: 110,624,568 (GRCm39) R3703C probably damaging Het
Eef1g A G 19: 8,944,411 (GRCm39) probably null Het
Gnl2 T C 4: 124,942,186 (GRCm39) V397A probably damaging Het
Gramd2b A G 18: 56,565,408 (GRCm39) E21G possibly damaging Het
Grik3 C A 4: 125,517,309 (GRCm39) Q51K probably benign Het
Hectd2 G T 19: 36,564,780 (GRCm39) Q20H probably damaging Het
Krtap5-1 A G 7: 141,850,233 (GRCm39) C192R unknown Het
Lrpap1 A T 5: 35,256,577 (GRCm39) M135K probably benign Het
Lrrc9 G A 12: 72,520,710 (GRCm39) R664H possibly damaging Het
Mef2c T G 13: 83,800,975 (GRCm39) V225G probably damaging Het
Nlrp9b T C 7: 19,753,263 (GRCm39) L56P probably damaging Het
Nup133 T C 8: 124,643,020 (GRCm39) probably null Het
Or12j4 G A 7: 140,046,648 (GRCm39) C178Y probably damaging Het
Or5ak23 T A 2: 85,244,948 (GRCm39) I92L possibly damaging Het
Smpd1 A G 7: 105,204,480 (GRCm39) M120V probably benign Het
Zbtb46 A G 2: 181,053,629 (GRCm39) L361P probably benign Het
Zfp605 A G 5: 110,275,863 (GRCm39) H327R probably damaging Het
Other mutations in Ppp1r3d
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01997:Ppp1r3d APN 2 178,055,447 (GRCm39) missense possibly damaging 0.67
R4391:Ppp1r3d UTSW 2 178,055,880 (GRCm39) missense probably damaging 0.99
R7634:Ppp1r3d UTSW 2 178,055,165 (GRCm39) missense probably damaging 1.00
R9377:Ppp1r3d UTSW 2 178,055,669 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTGTCCCAGTACTCAGCACC -3'
(R):5'- GCAGGTCAAGGTGTTTAACGC -3'

Sequencing Primer
(F):5'- GAAGATGTCCTCGGTACCTTCAG -3'
(R):5'- TGTTTAACGCAGGCGACGATC -3'
Posted On 2018-07-23