Incidental Mutation 'IGL01522:Plin3'
ID 89454
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Plin3
Ensembl Gene ENSMUSG00000024197
Gene Name perilipin 3
Synonyms Tip47, M6prbp1, 1300012C15Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.089) question?
Stock # IGL01522
Quality Score
Status
Chromosome 17
Chromosomal Location 56278962-56290511 bp(-) (GRCm38)
Type of Mutation nonsense
DNA Base Change (assembly) C to T at 56280799 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Stop codon at position 305 (W305*)
Ref Sequence ENSEMBL: ENSMUSP00000019726 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019726] [ENSMUST00000058136]
AlphaFold Q9DBG5
PDB Structure Crystal Structure of the C-terminus of TIP47 [X-RAY DIFFRACTION]
Predicted Effect probably null
Transcript: ENSMUST00000019726
AA Change: W305*
SMART Domains Protein: ENSMUSP00000019726
Gene: ENSMUSG00000024197
AA Change: W305*

DomainStartEndE-ValueType
Pfam:Perilipin 19 415 1.5e-166 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000058136
SMART Domains Protein: ENSMUSP00000055104
Gene: ENSMUSG00000047123

DomainStartEndE-ValueType
PDB:4BSX|D 5 153 3e-52 PDB
low complexity region 345 384 N/A INTRINSIC
SCOP:d1fyva_ 386 491 8e-3 SMART
PDB:2M1X|A 391 547 1e-74 PDB
Pfam:RHIM 610 698 4.7e-13 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Mannose 6-phophate receptors (MPRs) deliver lysosomal hydrolase from the Golgi to endosomes and then return to the Golgi complex. The protein encoded by this gene interacts with the cytoplasmic domains of both cation-independent and cation-dependent MPRs, and is required for endosome-to-Golgi transport. This protein also binds directly to the GTPase RAB9 (RAB9A), a member of the RAS oncogene family. The interaction with RAB9 has been shown to increase the affinity of this protein for its cargo. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Aug 2009]
PHENOTYPE: Mice homozygous for a null mutation display enhanced cold tolerance and increased beige adipocyte formation and thermogenic activity. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610010F05Rik A G 11: 23,582,865 probably null Het
Adamts12 T C 15: 11,065,159 probably null Het
Adamts3 T C 5: 89,702,943 N579S probably benign Het
Akr1c19 A G 13: 4,239,099 probably benign Het
Ankrd39 T A 1: 36,542,061 H69L probably damaging Het
Apcdd1 T A 18: 62,952,115 M461K possibly damaging Het
Bpifa3 G A 2: 154,137,582 C209Y probably damaging Het
Cep131 T C 11: 120,067,163 E779G probably benign Het
Cep85 T C 4: 134,152,255 Q394R probably damaging Het
Cep85 G T 4: 134,152,256 Q394K probably damaging Het
Clcn6 T C 4: 148,017,535 Y364C probably benign Het
Fetub G A 16: 22,929,641 M1I probably null Het
Greb1 T C 12: 16,701,201 I1003V probably damaging Het
Hsf3 A G X: 96,320,594 probably benign Het
Jcad A G 18: 4,673,312 N358S probably damaging Het
Kndc1 T C 7: 139,913,972 probably benign Het
Lama1 A T 17: 67,752,774 probably benign Het
Mark2 A G 19: 7,281,238 V50A probably benign Het
Mmp7 T C 9: 7,692,228 W35R probably damaging Het
Ndc80 A G 17: 71,499,325 V578A probably benign Het
Nfyc T C 4: 120,781,524 E42G probably damaging Het
Olfr1164 T C 2: 88,093,016 K307E possibly damaging Het
Olfr1504 A T 19: 13,887,358 L284* probably null Het
Olfr344 A G 2: 36,569,221 T208A probably benign Het
Olfr547 A T 7: 102,535,184 I146F probably damaging Het
Olfr935 A T 9: 38,995,100 C112S probably benign Het
Pcdha11 T C 18: 37,185,008 F925L probably damaging Het
Pdcd1 T G 1: 94,040,846 R154S probably benign Het
Pepd T A 7: 34,924,440 D87E probably benign Het
Pfn4 A G 12: 4,770,240 T30A probably benign Het
Pgpep1l A G 7: 68,237,708 M48T possibly damaging Het
Pla2g15 A G 8: 106,163,116 N340S probably benign Het
Plcb4 A G 2: 136,002,627 D155G probably damaging Het
Plg G A 17: 12,404,069 G499S probably damaging Het
Polq C A 16: 37,027,903 L291I probably damaging Het
Sdf2l1 T A 16: 17,132,150 H54L probably damaging Het
Slc38a2 C T 15: 96,693,055 D276N possibly damaging Het
Syk A G 13: 52,643,061 T576A probably benign Het
Tas2r119 G A 15: 32,178,193 V302I probably benign Het
Uso1 T C 5: 92,181,419 F389L probably damaging Het
Wwc2 T A 8: 47,868,633 Y482F unknown Het
Other mutations in Plin3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01295:Plin3 APN 17 56279814 missense probably damaging 1.00
IGL01793:Plin3 APN 17 56281540 missense probably benign
IGL02355:Plin3 APN 17 56286636 missense probably benign 0.24
IGL02362:Plin3 APN 17 56286636 missense probably benign 0.24
R0053:Plin3 UTSW 17 56279892 missense probably damaging 1.00
R0053:Plin3 UTSW 17 56279892 missense probably damaging 1.00
R1458:Plin3 UTSW 17 56284337 missense probably benign 0.05
R1900:Plin3 UTSW 17 56279824 missense possibly damaging 0.47
R2107:Plin3 UTSW 17 56284391 missense probably benign 0.01
R2173:Plin3 UTSW 17 56279891 missense possibly damaging 0.77
R3030:Plin3 UTSW 17 56284184 missense possibly damaging 0.64
R3808:Plin3 UTSW 17 56286275 missense probably damaging 1.00
R3872:Plin3 UTSW 17 56284181 missense probably damaging 1.00
R4426:Plin3 UTSW 17 56286555 missense probably damaging 1.00
R5991:Plin3 UTSW 17 56286576 missense probably damaging 0.99
R6261:Plin3 UTSW 17 56281488 nonsense probably null
R6516:Plin3 UTSW 17 56286223 missense probably damaging 0.99
R7225:Plin3 UTSW 17 56286541 missense possibly damaging 0.46
R7574:Plin3 UTSW 17 56284192 missense possibly damaging 0.95
R7786:Plin3 UTSW 17 56279757 missense probably benign 0.04
R8325:Plin3 UTSW 17 56286268 missense probably benign 0.04
R8738:Plin3 UTSW 17 56286490 missense probably benign 0.03
R9229:Plin3 UTSW 17 56284315 missense probably damaging 1.00
Posted On 2013-12-03