Incidental Mutation 'R4391:Ppp1r3d'
ID 326356
Institutional Source Beutler Lab
Gene Symbol Ppp1r3d
Ensembl Gene ENSMUSG00000049999
Gene Name protein phosphatase 1, regulatory subunit 3D
Synonyms 2610024M03Rik, LOC228966
MMRRC Submission 041682-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.372) question?
Stock # R4391 (G1)
Quality Score 108
Status Validated
Chromosome 2
Chromosomal Location 178052999-178056256 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 178055880 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Asparagine at position 41 (D41N)
Ref Sequence ENSEMBL: ENSMUSP00000061402 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058678] [ENSMUST00000094251]
AlphaFold A2AJW4
Predicted Effect probably damaging
Transcript: ENSMUST00000058678
AA Change: D41N

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000061402
Gene: ENSMUSG00000049999
AA Change: D41N

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 0.0718 question?
Coding Region Coverage
  • 1x: 99.6%
  • 3x: 98.6%
  • 10x: 96.4%
  • 20x: 91.6%
Validation Efficiency 100% (40/40)
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6030469F06Rik A T 12: 31,234,622 (GRCm39) noncoding transcript Het
Actn2 C T 13: 12,305,634 (GRCm39) R394Q probably damaging Het
Atg16l1 A G 1: 87,687,842 (GRCm39) D62G probably damaging Het
Atp2b1 A G 10: 98,839,076 (GRCm39) T635A probably benign Het
Chil4 G A 3: 106,111,043 (GRCm39) P284S possibly damaging Het
Dnah1 G A 14: 31,016,792 (GRCm39) T1575I probably damaging Het
Dnah7b A G 1: 46,376,754 (GRCm39) probably null Het
Dnajc12 A G 10: 63,242,838 (GRCm39) T37A probably benign Het
Efcab5 T A 11: 76,981,284 (GRCm39) N1354I probably damaging Het
Epas1 T C 17: 87,117,091 (GRCm39) L218P probably benign Het
Fbxw15 T A 9: 109,397,300 (GRCm39) probably benign Het
Filip1l C A 16: 57,391,155 (GRCm39) S581* probably null Het
Focad T A 4: 88,104,195 (GRCm39) I358K probably damaging Het
Gm382 T A X: 125,968,942 (GRCm39) S376T probably benign Het
Gpsm1 C T 2: 26,214,009 (GRCm39) R179C probably damaging Het
Hjurp A G 1: 88,194,283 (GRCm39) probably benign Het
Homer3 G A 8: 70,742,793 (GRCm39) probably null Het
Krt39 C T 11: 99,405,578 (GRCm39) A441T probably benign Het
Nrdc T A 4: 108,903,841 (GRCm39) N662K probably damaging Het
Obox5 C T 7: 15,491,899 (GRCm39) Q105* probably null Het
Or56a3b T A 7: 104,770,793 (GRCm39) M43K possibly damaging Het
Or5af1 T A 11: 58,722,841 (GRCm39) V287D possibly damaging Het
Or8c13 A T 9: 38,091,645 (GRCm39) V158D probably damaging Het
Pcdhb5 T A 18: 37,455,789 (GRCm39) L723Q possibly damaging Het
Pou3f3 G T 1: 42,736,618 (GRCm39) A105S unknown Het
Ppp4r1 A G 17: 66,131,749 (GRCm39) N497S probably benign Het
Rad54b T G 4: 11,615,570 (GRCm39) N859K probably benign Het
Sh3bp2 C T 5: 34,707,062 (GRCm39) S29L probably benign Het
Smarcad1 A T 6: 65,033,443 (GRCm39) N142I probably benign Het
Sp140l1 G A 1: 85,062,852 (GRCm39) probably benign Het
Stat3 G A 11: 100,796,378 (GRCm39) probably benign Het
Stmn3 T C 2: 180,950,576 (GRCm39) R77G probably benign Het
Ugt1a1 CAGAGAGAGAGAGA CAGAGAGAGAGA 1: 88,139,706 (GRCm39) probably benign Het
Vmn2r79 A G 7: 86,651,099 (GRCm39) H166R possibly damaging Het
Xlr3a T C X: 72,135,450 (GRCm39) I87V possibly damaging Het
Other mutations in Ppp1r3d
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01997:Ppp1r3d APN 2 178,055,447 (GRCm39) missense possibly damaging 0.67
R6672:Ppp1r3d UTSW 2 178,055,552 (GRCm39) missense possibly damaging 0.56
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'- TGCGTTAAACACCTTGACCTGC -3'
(R):5'- AACACAGTCTCCGTGTTGG -3'

Sequencing Primer
(F):5'- ACACCTTGACCTGCGCCAG -3'
(R):5'- GCTTCCAGAGGCTGTCAAG -3'
Posted On 2015-07-06