Incidental Mutation 'R2173:Plin3'
ID 237656
Institutional Source Beutler Lab
Gene Symbol Plin3
Ensembl Gene ENSMUSG00000024197
Gene Name perilipin 3
Synonyms M6prbp1, 1300012C15Rik, Tip47
MMRRC Submission 040175-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.122) question?
Stock # R2173 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 56585962-56597511 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 56586891 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 385 (D385E)
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 possibly damaging
Transcript: ENSMUST00000019726
AA Change: D385E

PolyPhen 2 Score 0.769 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000019726
Gene: ENSMUSG00000024197
AA Change: D385E

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
Meta Mutation Damage Score 0.1061 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.6%
Validation Efficiency 97% (66/68)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alpk1 T A 3: 127,477,239 (GRCm39) H273L probably damaging Het
Alpk3 A G 7: 80,726,648 (GRCm39) Y111C probably damaging Het
Anapc2 T G 2: 25,163,288 (GRCm39) V175G probably benign Het
Arhgap30 T C 1: 171,235,335 (GRCm39) S570P probably damaging Het
AU040320 T C 4: 126,686,069 (GRCm39) L215P probably benign Het
Ccdc59 A T 10: 105,677,388 (GRCm39) K9M possibly damaging Het
Ccdc65 A G 15: 98,618,914 (GRCm39) N298D probably benign Het
Cfap70 T A 14: 20,458,630 (GRCm39) N727Y probably benign Het
Clcn7 A G 17: 25,364,583 (GRCm39) H63R probably benign Het
Corin A T 5: 72,661,422 (GRCm39) C24S probably benign Het
Cyp1a2 A G 9: 57,584,798 (GRCm39) W419R probably damaging Het
Dlgap4 C A 2: 156,604,732 (GRCm39) A256D probably damaging Het
Eif4enif1 A G 11: 3,192,367 (GRCm39) probably null Het
Eri2 A G 7: 119,385,766 (GRCm39) V245A possibly damaging Het
Erich6b T C 14: 75,896,332 (GRCm39) F73L probably benign Het
Fam110a A G 2: 151,812,429 (GRCm39) C114R probably damaging Het
Fam149a T C 8: 45,806,991 (GRCm39) D288G probably damaging Het
Fam171a1 T A 2: 3,226,656 (GRCm39) Y596* probably null Het
Fsd1 A G 17: 56,298,223 (GRCm39) T183A possibly damaging Het
Fut10 T A 8: 31,726,159 (GRCm39) Y305N probably damaging Het
Ganab A T 19: 8,879,624 (GRCm39) probably benign Het
Gm9922 G T 14: 101,967,012 (GRCm39) probably benign Het
Gp9 A G 6: 87,756,035 (GRCm39) T17A probably benign Het
Gxylt2 T C 6: 100,775,115 (GRCm39) Y345H probably damaging Het
Herc2 A G 7: 55,835,699 (GRCm39) H3269R probably benign Het
Hpx A T 7: 105,241,290 (GRCm39) S374T probably benign Het
Hspa5 T C 2: 34,664,674 (GRCm39) V376A probably damaging Het
Hyi T C 4: 118,219,381 (GRCm39) probably benign Het
Impdh2 G A 9: 108,442,593 (GRCm39) probably null Het
Kremen2 A C 17: 23,961,770 (GRCm39) W246G probably damaging Het
Krt87 A G 15: 101,385,818 (GRCm39) V259A probably damaging Het
L3mbtl4 A T 17: 68,894,188 (GRCm39) H398L probably damaging Het
Lama5 C A 2: 179,838,035 (GRCm39) V894L probably benign Het
Maml2 A G 9: 13,532,912 (GRCm39) probably benign Het
Nup153 A T 13: 46,855,076 (GRCm39) probably benign Het
Or10g6 T G 9: 39,934,550 (GRCm39) I287S probably damaging Het
Or2y15 G T 11: 49,350,967 (GRCm39) V154L probably benign Het
Or5k14 A G 16: 58,692,982 (GRCm39) F177S probably damaging Het
Or8b3b T C 9: 38,584,240 (GRCm39) I180V probably benign Het
Or9r7 G A 10: 129,962,372 (GRCm39) P185S probably benign Het
Otof C T 5: 30,543,718 (GRCm39) R582H probably damaging Het
Otud4 T C 8: 80,395,093 (GRCm39) S543P probably damaging Het
Pde6a A G 18: 61,387,453 (GRCm39) D448G probably damaging Het
Phgdh A G 3: 98,222,427 (GRCm39) V388A probably benign Het
Polg G T 7: 79,105,341 (GRCm39) D734E probably damaging Het
Pomt1 T C 2: 32,140,912 (GRCm39) Y515H probably damaging Het
Prr35 A C 17: 26,167,461 (GRCm39) H25Q probably damaging Het
Pwwp2a G A 11: 43,573,313 (GRCm39) A132T probably benign Het
Rbm6 A T 9: 107,729,390 (GRCm39) F419L possibly damaging Het
Rfx5 A G 3: 94,864,027 (GRCm39) probably null Het
Rnf135 G A 11: 80,080,066 (GRCm39) S119N probably benign Het
Scfd1 T A 12: 51,433,862 (GRCm39) D51E probably benign Het
Smox A T 2: 131,353,944 (GRCm39) E5D possibly damaging Het
Srpk2 T C 5: 23,723,613 (GRCm39) probably null Het
Syne2 T A 12: 76,147,763 (GRCm39) probably benign Het
Tcf20 A G 15: 82,738,893 (GRCm39) S853P possibly damaging Het
Tmem131l A G 3: 83,833,452 (GRCm39) F804L probably damaging Het
Ttll8 A G 15: 88,798,800 (GRCm39) L645P probably damaging Het
Ubr3 T A 2: 69,727,743 (GRCm39) H35Q probably benign Het
Uck1 GCCAACACC GCC 2: 32,146,088 (GRCm39) probably benign Het
Vmn2r70 A T 7: 85,214,290 (GRCm39) H287Q probably benign Het
Vps26a A T 10: 62,304,171 (GRCm39) I150N probably damaging Het
Zfp605 G A 5: 110,275,323 (GRCm39) R147H probably benign Het
Zfyve16 A G 13: 92,631,596 (GRCm39) M1333T probably damaging Het
Other mutations in Plin3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01295:Plin3 APN 17 56,586,814 (GRCm39) missense probably damaging 1.00
IGL01522:Plin3 APN 17 56,587,799 (GRCm39) nonsense probably null
IGL01793:Plin3 APN 17 56,588,540 (GRCm39) missense probably benign
IGL02355:Plin3 APN 17 56,593,636 (GRCm39) missense probably benign 0.24
IGL02362:Plin3 APN 17 56,593,636 (GRCm39) missense probably benign 0.24
R0053:Plin3 UTSW 17 56,586,892 (GRCm39) missense probably damaging 1.00
R0053:Plin3 UTSW 17 56,586,892 (GRCm39) missense probably damaging 1.00
R1458:Plin3 UTSW 17 56,591,337 (GRCm39) missense probably benign 0.05
R1900:Plin3 UTSW 17 56,586,824 (GRCm39) missense possibly damaging 0.47
R2107:Plin3 UTSW 17 56,591,391 (GRCm39) missense probably benign 0.01
R3030:Plin3 UTSW 17 56,591,184 (GRCm39) missense possibly damaging 0.64
R3808:Plin3 UTSW 17 56,593,275 (GRCm39) missense probably damaging 1.00
R3872:Plin3 UTSW 17 56,591,181 (GRCm39) missense probably damaging 1.00
R4426:Plin3 UTSW 17 56,593,555 (GRCm39) missense probably damaging 1.00
R5991:Plin3 UTSW 17 56,593,576 (GRCm39) missense probably damaging 0.99
R6261:Plin3 UTSW 17 56,588,488 (GRCm39) nonsense probably null
R6516:Plin3 UTSW 17 56,593,223 (GRCm39) missense probably damaging 0.99
R7225:Plin3 UTSW 17 56,593,541 (GRCm39) missense possibly damaging 0.46
R7574:Plin3 UTSW 17 56,591,192 (GRCm39) missense possibly damaging 0.95
R7786:Plin3 UTSW 17 56,586,757 (GRCm39) missense probably benign 0.04
R8325:Plin3 UTSW 17 56,593,268 (GRCm39) missense probably benign 0.04
R8738:Plin3 UTSW 17 56,593,490 (GRCm39) missense probably benign 0.03
R9229:Plin3 UTSW 17 56,591,315 (GRCm39) missense probably damaging 1.00
R9495:Plin3 UTSW 17 56,587,824 (GRCm39) missense probably benign 0.27
R9511:Plin3 UTSW 17 56,591,225 (GRCm39) missense probably damaging 0.98
R9514:Plin3 UTSW 17 56,587,824 (GRCm39) missense probably benign 0.27
Predicted Primers PCR Primer
(F):5'- GATAGATGTTGGCCCTGAACC -3'
(R):5'- TACTGGCCCTCAATACCCTGAC -3'

Sequencing Primer
(F):5'- ATAGATGTTGGCCCTGAACCTTCTC -3'
(R):5'- AATCTCCCCCTTCCAGCAGG -3'
Posted On 2014-10-02