Incidental Mutation 'R3808:Plin3'
ID 275069
Institutional Source Beutler Lab
Gene Symbol Plin3
Ensembl Gene ENSMUSG00000024197
Gene Name perilipin 3
Synonyms M6prbp1, 1300012C15Rik, Tip47
MMRRC Submission 040765-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.122) question?
Stock # R3808 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 56585962-56597511 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 56593275 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Serine at position 96 (A96S)
Ref Sequence ENSEMBL: ENSMUSP00000019726 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019726]
AlphaFold Q9DBG5
PDB Structure Crystal Structure of the C-terminus of TIP47 [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000019726
AA Change: A96S

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000019726
Gene: ENSMUSG00000024197
AA Change: A96S

DomainStartEndE-ValueType
Pfam:Perilipin 19 415 1.5e-166 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 95.8%
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik G T 12: 71,211,320 (GRCm39) E685* probably null Het
2700049A03Rik A T 12: 71,211,321 (GRCm39) E685V possibly damaging Het
Aldh3a2 G T 11: 61,149,623 (GRCm39) L248M probably damaging Het
Als2 A G 1: 59,209,609 (GRCm39) S1458P probably benign Het
Aoc1l3 C T 6: 48,964,928 (GRCm39) P312L possibly damaging Het
Arhgap5 A G 12: 52,613,970 (GRCm39) E192G possibly damaging Het
Atg2a A G 19: 6,302,846 (GRCm39) K1019R possibly damaging Het
Atp2b1 A G 10: 98,839,010 (GRCm39) K613E possibly damaging Het
Carm1 T C 9: 21,498,258 (GRCm39) C421R probably damaging Het
Cdh17 A T 4: 11,795,671 (GRCm39) Y417F probably damaging Het
Cers1 A G 8: 70,782,660 (GRCm39) D10G possibly damaging Het
Clptm1l A C 13: 73,760,573 (GRCm39) M319L probably benign Het
Cntnap3 A G 13: 64,929,618 (GRCm39) V527A probably damaging Het
Creb3l2 A G 6: 37,332,625 (GRCm39) S290P probably damaging Het
Dock4 T G 12: 40,722,809 (GRCm39) V305G probably damaging Het
Dtl A C 1: 191,280,466 (GRCm39) L356R probably damaging Het
Eftud2 A T 11: 102,732,289 (GRCm39) probably null Het
Eif2b4 A G 5: 31,348,512 (GRCm39) S88P possibly damaging Het
Fat4 T G 3: 39,036,587 (GRCm39) V3413G possibly damaging Het
Fgfr2 T C 7: 129,801,578 (GRCm39) M218V probably benign Het
Grin2b A G 6: 135,900,269 (GRCm39) L204P probably damaging Het
Kcnj12 A G 11: 60,961,103 (GRCm39) N467S probably benign Het
Klhdc3 T A 17: 46,988,858 (GRCm39) N111Y possibly damaging Het
Lin9 A G 1: 180,486,676 (GRCm39) I81V probably null Het
Lrp2 T C 2: 69,331,892 (GRCm39) D1621G probably damaging Het
Lrp4 T A 2: 91,307,047 (GRCm39) D389E probably damaging Het
Med15 C T 16: 17,473,598 (GRCm39) probably benign Het
Nbea T C 3: 55,625,269 (GRCm39) N2274S probably benign Het
Nr3c2 G A 8: 77,635,343 (GRCm39) G148D probably damaging Het
Or10s1 A T 9: 39,985,605 (GRCm39) M5L probably benign Het
Or14j6 T C 17: 38,214,464 (GRCm39) V9A probably benign Het
Or4c112 G T 2: 88,853,770 (GRCm39) H192Q probably benign Het
Paxip1 A G 5: 27,977,027 (GRCm39) probably benign Het
Pfas T C 11: 68,880,779 (GRCm39) probably benign Het
Pnck T A X: 72,700,550 (GRCm39) I288F probably damaging Het
Ppp4c C T 7: 126,386,499 (GRCm39) G166D probably damaging Het
Prss43 A T 9: 110,656,840 (GRCm39) R115S probably damaging Het
Rassf2 T C 2: 131,840,180 (GRCm39) probably null Het
Rdh16f1 T A 10: 127,624,568 (GRCm39) D135E probably benign Het
Rdh16f1 G A 10: 127,624,569 (GRCm39) V136M probably damaging Het
Rgs12 A G 5: 35,189,698 (GRCm39) E702G probably damaging Het
Rnf213 A G 11: 119,370,384 (GRCm39) K4728E probably damaging Het
Ros1 T G 10: 51,996,944 (GRCm39) T1243P probably benign Het
Sall1 G A 8: 89,758,101 (GRCm39) Q668* probably null Het
Sbf2 C A 7: 110,088,487 (GRCm39) *45L probably null Het
Serpina3j A T 12: 104,286,086 (GRCm39) I414F probably benign Het
Sh2d3c T C 2: 32,636,108 (GRCm39) Y159H probably damaging Het
Slamf1 A G 1: 171,625,745 (GRCm39) D307G probably null Het
Slc22a13 T C 9: 119,025,143 (GRCm39) T178A probably benign Het
Smchd1 A T 17: 71,736,536 (GRCm39) L588H probably damaging Het
Trim12a G A 7: 103,956,201 (GRCm39) A113V probably benign Het
Vil1 T C 1: 74,466,772 (GRCm39) V654A probably benign Het
Vmn1r202 T C 13: 22,686,070 (GRCm39) T116A possibly damaging Het
Zfp267 T G 3: 36,219,792 (GRCm39) probably null Het
Zfp607a G A 7: 27,578,826 (GRCm39) R632H probably benign 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
R2173:Plin3 UTSW 17 56,586,891 (GRCm39) missense possibly damaging 0.77
R3030:Plin3 UTSW 17 56,591,184 (GRCm39) missense possibly damaging 0.64
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'- GATCCAGAGGGCATTCTTGAC -3'
(R):5'- AGTGAGTTGAGGACCCCAAG -3'

Sequencing Primer
(F):5'- TTGACTGAATGTGGCCAACC -3'
(R):5'- GGTGTGGAGGGAGAATGCCTC -3'
Posted On 2015-04-02