Incidental Mutation 'IGL03127:Ppp1r14d'
ID 410195
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ppp1r14d
Ensembl Gene ENSMUSG00000027317
Gene Name protein phosphatase 1, regulatory inhibitor subunit 14D
Synonyms 2010107K19Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.040) question?
Stock # IGL03127
Quality Score
Status
Chromosome 2
Chromosomal Location 119048600-119060387 bp(-) (GRCm39)
Type of Mutation makesense
DNA Base Change (assembly) A to G at 119048841 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Stop codon to Glutamine at position 147 (*147Q)
Ref Sequence ENSEMBL: ENSMUSP00000075453 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076084] [ENSMUST00000090174] [ENSMUST00000102519] [ENSMUST00000110820]
AlphaFold Q7TT52
Predicted Effect probably null
Transcript: ENSMUST00000076084
AA Change: *147Q
SMART Domains Protein: ENSMUSP00000075453
Gene: ENSMUSG00000027317
AA Change: *147Q

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 silent
Transcript: ENSMUST00000110820
SMART Domains Protein: ENSMUSP00000106444
Gene: ENSMUSG00000027317

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: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acvr1b A G 15: 101,100,959 (GRCm39) R374G probably damaging Het
Amdhd2 A G 17: 24,376,712 (GRCm39) probably null Het
Apol7c A G 15: 77,410,106 (GRCm39) M280T probably benign Het
Atl2 T C 17: 80,160,283 (GRCm39) M264V probably damaging Het
Ccdc141 C T 2: 76,859,579 (GRCm39) probably null Het
Dtx4 T C 19: 12,463,864 (GRCm39) probably benign Het
Dyrk4 G A 6: 126,874,134 (GRCm39) T152I possibly damaging Het
F5 T A 1: 164,021,107 (GRCm39) I1194N probably benign Het
Gadl1 C T 9: 115,777,732 (GRCm39) T126M probably damaging Het
Gcnt7 A T 2: 172,296,331 (GRCm39) C110* probably null Het
H2-M9 C T 17: 36,951,714 (GRCm39) V254M possibly damaging Het
Hadha A T 5: 30,339,184 (GRCm39) probably benign Het
Kit T C 5: 75,801,848 (GRCm39) M621T probably benign Het
Krt73 T C 15: 101,704,275 (GRCm39) M422V probably benign Het
Neil2 T C 14: 63,429,257 (GRCm39) H12R probably benign Het
Nrsn1 A G 13: 25,437,700 (GRCm39) L76P probably damaging Het
Or2y1g T G 11: 49,171,599 (GRCm39) V208G possibly damaging Het
Or8b1 C A 9: 38,399,882 (GRCm39) Q186K probably benign Het
Or8d2 T A 9: 38,759,505 (GRCm39) Y32N probably damaging Het
Pot1a G A 6: 25,794,615 (GRCm39) A23V probably benign Het
Ptger2 T C 14: 45,239,462 (GRCm39) probably benign Het
Syne3 A T 12: 104,909,687 (GRCm39) D716E probably benign Het
Tbc1d9 A G 8: 83,976,102 (GRCm39) N554D probably damaging Het
Ushbp1 T A 8: 71,847,020 (GRCm39) Q204L possibly damaging Het
Other mutations in Ppp1r14d
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02683:Ppp1r14d APN 2 119,049,303 (GRCm39) missense probably damaging 1.00
R0689:Ppp1r14d UTSW 2 119,060,093 (GRCm39) missense probably damaging 1.00
R9224:Ppp1r14d UTSW 2 119,060,222 (GRCm39) missense probably benign 0.00
Posted On 2016-08-02