Incidental Mutation 'R2368:Plin5'
ID 246417
Institutional Source Beutler Lab
Gene Symbol Plin5
Ensembl Gene ENSMUSG00000011305
Gene Name perilipin 5
Synonyms Lsdp5, MLDP, 2310076L09Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.168) question?
Stock # R2368 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 56418601-56424596 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 56422588 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 116 (E116G)
Ref Sequence ENSEMBL: ENSMUSP00000108695 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019808] [ENSMUST00000041357] [ENSMUST00000113072]
AlphaFold Q8BVZ1
Predicted Effect probably damaging
Transcript: ENSMUST00000019808
AA Change: E116G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000019808
Gene: ENSMUSG00000011305
AA Change: E116G

DomainStartEndE-ValueType
Pfam:Perilipin 31 383 1.2e-119 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000041357
SMART Domains Protein: ENSMUSP00000038048
Gene: ENSMUSG00000037095

DomainStartEndE-ValueType
signal peptide 1 32 N/A INTRINSIC
LRR 84 107 1.86e0 SMART
LRR_TYP 108 131 3.63e-3 SMART
LRR 133 155 5.89e1 SMART
LRR_TYP 156 179 1.45e-2 SMART
LRR_TYP 180 203 8.47e-4 SMART
LRR 205 227 2.08e1 SMART
LRR 229 251 1.91e1 SMART
LRR 252 275 5.34e-1 SMART
LRRCT 292 342 9.69e-9 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000113072
AA Change: E116G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000108695
Gene: ENSMUSG00000011305
AA Change: E116G

DomainStartEndE-ValueType
Pfam:Perilipin 27 384 2.3e-128 PFAM
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.0%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Members of the perilipin family, such as PLIN5, coat intracellular lipid storage droplets and protect them from lipolytic degradation (Dalen et al., 2007 [PubMed 17234449]).[supplied by OMIM, Feb 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit excessive fatty acid oxidation, abnormal lipid levels in organs depending on fed or fasted state, increased oxygen consumption and activity in the dark phase, and decreased cardiac muscle contractility in aged mice. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 18 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arid2 A G 15: 96,247,893 (GRCm39) K102E possibly damaging Het
Bsn G A 9: 107,988,229 (GRCm39) Q2508* probably null Het
Cc2d2a A G 5: 43,861,230 (GRCm39) T549A probably benign Het
Lyst A T 13: 13,871,248 (GRCm39) S2662C probably damaging Het
Nek9 A G 12: 85,376,661 (GRCm39) V240A possibly damaging Het
Nol4l T C 2: 153,259,959 (GRCm39) D165G probably damaging Het
Or10ak12 A G 4: 118,667,019 (GRCm39) V14A probably benign Het
Or14j5 A T 17: 38,161,509 (GRCm39) M9L probably benign Het
Or5p69 A G 7: 107,967,576 (GRCm39) Y293C probably damaging Het
Or8h8 A T 2: 86,753,451 (GRCm39) Y142N probably benign Het
Slc35d2 C T 13: 64,277,119 (GRCm39) M1I probably null Het
Srgap1 A T 10: 121,665,194 (GRCm39) S493T probably benign Het
Syt9 T A 7: 107,035,906 (GRCm39) Y308N probably damaging Het
Ttc23l CT CTTGGATT 15: 10,537,648 (GRCm39) probably benign Het
Ttc23l G A 15: 10,537,652 (GRCm39) S206L probably benign Het
Vmn2r74 C T 7: 85,610,522 (GRCm39) D57N probably benign Het
Vstm5 A T 9: 15,169,027 (GRCm39) M166L probably benign Het
Zbtb12 T C 17: 35,114,674 (GRCm39) L153P possibly damaging Het
Other mutations in Plin5
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0304:Plin5 UTSW 17 56,422,597 (GRCm39) missense probably damaging 1.00
R0981:Plin5 UTSW 17 56,421,020 (GRCm39) missense probably damaging 1.00
R1966:Plin5 UTSW 17 56,419,186 (GRCm39) missense probably damaging 1.00
R2153:Plin5 UTSW 17 56,423,836 (GRCm39) missense probably benign 0.02
R4809:Plin5 UTSW 17 56,423,855 (GRCm39) missense probably benign 0.00
R5173:Plin5 UTSW 17 56,422,548 (GRCm39) splice site probably null
R5315:Plin5 UTSW 17 56,421,066 (GRCm39) missense probably benign 0.15
R5836:Plin5 UTSW 17 56,422,549 (GRCm39) critical splice donor site probably null
R7129:Plin5 UTSW 17 56,422,174 (GRCm39) missense probably null
R7510:Plin5 UTSW 17 56,420,975 (GRCm39) missense probably damaging 0.97
R8305:Plin5 UTSW 17 56,422,221 (GRCm39) missense probably benign 0.00
R9190:Plin5 UTSW 17 56,419,462 (GRCm39) missense probably damaging 1.00
R9248:Plin5 UTSW 17 56,419,324 (GRCm39) missense probably damaging 0.99
R9723:Plin5 UTSW 17 56,423,290 (GRCm39) missense probably damaging 1.00
X0028:Plin5 UTSW 17 56,423,324 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- ACCCCTAACAGTCCTTGAGAAG -3'
(R):5'- TGAACTGAGAGACCCAGCAG -3'

Sequencing Primer
(F):5'- GTTTCCCTCCATTAAATAGACAGC -3'
(R):5'- CTGAGAGACCCAGCAGAGGATG -3'
Posted On 2014-10-30