Incidental Mutation 'IGL02683:Ppp1r14d'
ID303426
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ppp1r14d
Ensembl Gene ENSMUSG00000027317
Gene Nameprotein phosphatase 1, regulatory (inhibitor) subunit 14D
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.040) question?
Stock #IGL02683
Quality Score
Status
Chromosome2
Chromosomal Location119218119-119229906 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 119218822 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 95 (E95G)
Ref Sequence ENSEMBL: ENSMUSP00000075453 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076084] [ENSMUST00000090174] [ENSMUST00000102519] [ENSMUST00000110820]
Predicted Effect probably damaging
Transcript: ENSMUST00000076084
AA Change: E95G

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000075453
Gene: ENSMUSG00000027317
AA Change: E95G

DomainStartEndE-ValueType
low complexity region 3 14 N/A INTRINSIC
Pfam:PP1_inhibitor 22 146 1.3e-46 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000090174
SMART Domains Protein: ENSMUSP00000087636
Gene: ENSMUSG00000068580

DomainStartEndE-ValueType
FYVE 2 59 4.32e-6 SMART
RING 8 53 5.56e-1 SMART
low complexity region 167 187 N/A INTRINSIC
coiled coil region 226 260 N/A INTRINSIC
low complexity region 325 335 N/A INTRINSIC
PDB:2D8V|A 336 389 2e-35 PDB
Blast:RING 339 380 7e-21 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000102519
SMART Domains Protein: ENSMUSP00000099577
Gene: ENSMUSG00000068580

DomainStartEndE-ValueType
FYVE 2 59 4.32e-6 SMART
RING 8 53 5.56e-1 SMART
low complexity region 167 187 N/A INTRINSIC
coiled coil region 226 260 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000110820
AA Change: R117G

PolyPhen 2 Score 0.787 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000106444
Gene: ENSMUSG00000027317
AA Change: R117G

DomainStartEndE-ValueType
low complexity region 3 14 N/A INTRINSIC
Pfam:PP1_inhibitor 22 100 2.1e-12 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123323
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147584
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154057
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154185
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Protein phosphatase-1 (PP1; see MIM 176875) is a major cellular phosphatase that reverses serine/threonine protein phosphorylation. PPP1R14D is a PP1 inhibitor that itself is regulated by phosphorylation (Liu et al., 2004 [PubMed 12974676]).[supplied by OMIM, Feb 2010]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars T C 8: 111,052,531 probably benign Het
Abhd3 A G 18: 10,658,790 S215P probably damaging Het
Adam20 G A 8: 40,795,584 V244M probably damaging Het
Akr1c21 A C 13: 4,576,313 D112A probably damaging Het
Ano6 A T 15: 95,948,312 Y498F probably damaging Het
Aspscr1 T C 11: 120,701,226 F263S probably damaging Het
Capn11 A G 17: 45,653,591 F100S probably damaging Het
Cd63 T C 10: 128,910,430 C9R probably damaging Het
Cenpj T C 14: 56,552,952 K547E possibly damaging Het
Clasp1 A G 1: 118,539,266 D793G probably benign Het
Cmya5 G A 13: 93,090,997 Q2528* probably null Het
Crybg1 A G 10: 43,989,216 S1422P possibly damaging Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Dnal1 G A 12: 84,138,354 G178D probably damaging Het
E2f7 T C 10: 110,782,459 M795T probably benign Het
Glipr1l2 T C 10: 112,083,476 V34A probably benign Het
Gm12800 T C 4: 101,910,354 S267P probably benign Het
Gsdmc2 C T 15: 63,833,412 V151M probably damaging Het
Htr7 T C 19: 35,960,362 T448A probably benign Het
Kcnj5 T C 9: 32,317,780 T41A possibly damaging Het
Kcnt1 T C 2: 25,900,925 M12T possibly damaging Het
Kif1c G A 11: 70,726,452 A871T possibly damaging Het
Map3k10 T C 7: 27,658,937 K571R probably damaging Het
Med23 C A 10: 24,870,717 A45E probably benign Het
Nudt5 C A 2: 5,863,601 S103R probably damaging Het
Olfr1154 T A 2: 87,903,104 T191S possibly damaging Het
Parp3 A G 9: 106,473,185 S369P possibly damaging Het
Plxna4 A T 6: 32,517,606 L25Q probably benign Het
Pon2 A G 6: 5,269,062 V204A probably damaging Het
Ppfia1 A G 7: 144,513,358 M463T probably damaging Het
Prrc2a A G 17: 35,155,993 V1227A probably benign Het
Rabgap1 T A 2: 37,502,939 W536R probably damaging Het
Slco6d1 A G 1: 98,480,672 N431S probably benign Het
Spen C T 4: 141,471,645 V3224I probably benign Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Ssh2 A G 11: 77,398,256 D88G probably damaging Het
Stat5b T G 11: 100,804,946 K70T probably benign Het
Tex44 A G 1: 86,427,743 D458G probably benign Het
Tut1 T A 19: 8,965,258 C570S probably benign Het
Usp42 T C 5: 143,715,346 E974G possibly damaging Het
Vezf1 A T 11: 88,076,327 Q310L probably benign Het
Vmn2r83 A T 10: 79,491,281 R574S probably benign Het
Zfp664 T C 5: 124,886,322 V260A probably benign Het
Other mutations in Ppp1r14d
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03127:Ppp1r14d APN 2 119218360 makesense probably null
R0689:Ppp1r14d UTSW 2 119229612 missense probably damaging 1.00
Posted On2015-04-16