Incidental Mutation 'R7129:Plin5'
ID 552547
Institutional Source Beutler Lab
Gene Symbol Plin5
Ensembl Gene ENSMUSG00000011305
Gene Name perilipin 5
Synonyms Lsdp5, MLDP, 2310076L09Rik
MMRRC Submission 045214-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.138) question?
Stock # R7129 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 56418601-56424596 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 56422174 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 162 (M162V)
Ref Sequence ENSEMBL: ENSMUSP00000019808 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019808] [ENSMUST00000041357] [ENSMUST00000113072]
AlphaFold Q8BVZ1
Predicted Effect probably null
Transcript: ENSMUST00000019808
AA Change: M162V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000019808
Gene: ENSMUSG00000011305
AA Change: M162V

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 null
Transcript: ENSMUST00000113072
AA Change: M162V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000108695
Gene: ENSMUSG00000011305
AA Change: M162V

DomainStartEndE-ValueType
Pfam:Perilipin 27 384 2.3e-128 PFAM
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 98% (58/59)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700030K09Rik A G 8: 73,209,199 (GRCm39) E443G probably damaging Het
2700049A03Rik A G 12: 71,263,004 (GRCm39) probably null Het
3110082I17Rik A G 5: 139,349,738 (GRCm39) Y104H probably damaging Het
Abcg4 T C 9: 44,190,681 (GRCm39) K282E probably benign Het
Adamts17 T C 7: 66,770,758 (GRCm39) S956P probably damaging Het
Adh1 T C 3: 137,986,235 (GRCm39) V74A probably damaging Het
Akt1 A T 12: 112,626,083 (GRCm39) M63K probably benign Het
Arfrp1 G A 2: 181,001,344 (GRCm39) R177* probably null Het
Arl11 A G 14: 61,548,346 (GRCm39) E52G possibly damaging Het
BC051019 T C 7: 109,319,825 (GRCm39) S10G Het
Bfsp2 T A 9: 103,357,118 (GRCm39) E103V probably damaging Het
Bms1 G T 6: 118,380,122 (GRCm39) C728* probably null Het
Cachd1 T G 4: 100,775,263 (GRCm39) N159K probably null Het
Cd38 A G 5: 44,067,651 (GRCm39) N294S probably benign Het
Cfap54 T C 10: 92,852,433 (GRCm39) N891S probably benign Het
Chsy3 A T 18: 59,543,370 (GRCm39) H836L probably damaging Het
Cldn16 A T 16: 26,301,388 (GRCm39) D232V probably damaging Het
Dhx33 A T 11: 70,884,689 (GRCm39) I425N probably damaging Het
Dock4 A G 12: 40,878,878 (GRCm39) N1506D probably damaging Het
Dok7 T C 5: 35,236,392 (GRCm39) S227P probably damaging Het
Elf2 T C 3: 51,168,432 (GRCm39) R201G probably damaging Het
Elp1 T C 4: 56,787,944 (GRCm39) H329R probably damaging Het
Etaa1 T C 11: 17,890,339 (GRCm39) R841G possibly damaging Het
Exoc4 T C 6: 33,948,934 (GRCm39) Y926H probably damaging Het
Fras1 A G 5: 96,929,143 (GRCm39) H3849R probably benign Het
Hapln3 C T 7: 78,771,572 (GRCm39) G106R probably damaging Het
Hmcn1 A C 1: 150,452,961 (GRCm39) probably null Het
Ifitm7 A T 16: 13,801,600 (GRCm39) I53N possibly damaging Het
Il6ra T C 3: 89,778,554 (GRCm39) N433D probably damaging Het
Iqch C T 9: 63,329,191 (GRCm39) V1048I probably benign Het
Kif20a A G 18: 34,765,588 (GRCm39) T862A probably benign Het
Mcrs1 G A 15: 99,146,609 (GRCm39) L141F probably damaging Het
Nkx3-2 A G 5: 41,919,017 (GRCm39) S324P probably damaging Het
Nmi A T 2: 51,845,936 (GRCm39) probably null Het
Nufip1 A G 14: 76,372,325 (GRCm39) K480E possibly damaging Het
Oit3 T A 10: 59,264,166 (GRCm39) I323F probably damaging Het
Or2ag17 T C 7: 106,389,690 (GRCm39) K173E probably benign Het
Or5b98 A T 19: 12,931,478 (GRCm39) H175L possibly damaging Het
Pcdha11 A G 18: 37,140,291 (GRCm39) E640G probably benign Het
Phip C T 9: 82,759,353 (GRCm39) V1366I probably damaging Het
Podxl2 A G 6: 88,820,487 (GRCm39) probably null Het
Ptprb GAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT GAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT 10: 116,119,582 (GRCm39) probably benign Het
Rab4a A T 8: 124,554,069 (GRCm39) D40V probably benign Het
Scn7a A G 2: 66,530,537 (GRCm39) F603L probably benign Het
Slfn5 A T 11: 82,851,976 (GRCm39) K701* probably null Het
Speer4f2 A G 5: 17,582,446 (GRCm39) D223G Het
Stip1 C T 19: 6,999,178 (GRCm39) G467S possibly damaging Het
Tas2r117 A T 6: 132,780,350 (GRCm39) T163S probably benign Het
Tecta T C 9: 42,259,287 (GRCm39) D1532G probably damaging Het
Tmem63a T C 1: 180,782,441 (GRCm39) I146T probably damaging Het
Ttn C A 2: 76,646,515 (GRCm39) G12844W probably damaging Het
Usp22 T C 11: 61,053,775 (GRCm39) I190V probably damaging Het
Usp24 T C 4: 106,219,412 (GRCm39) I536T probably damaging Het
Vmn1r23 A G 6: 57,903,061 (GRCm39) V239A possibly damaging Het
Vmn1r9 A C 6: 57,048,611 (GRCm39) T229P probably damaging Het
Zbtb21 AGCTGCTGCTGCTGCTGCTGCTGCTACTGCTGCTGCTGCTGC AGCTGCTGCTGCTGCTGCTGCTACTGCTGCTGCTGCTGC 16: 97,752,887 (GRCm39) probably benign Het
Zbtb8a G C 4: 129,254,188 (GRCm39) A102G probably damaging Het
Zfp51 T C 17: 21,681,971 (GRCm39) W57R probably 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
R2368:Plin5 UTSW 17 56,422,588 (GRCm39) missense probably damaging 1.00
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
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'- AAAGCCCCATGTGTCTTTGG -3'
(R):5'- TTCTCAAGGACTGTTAGGGGTAAAC -3'

Sequencing Primer
(F):5'- TGGAGGGAGAAATCCAACCTG -3'
(R):5'- GGGTAAACAGAGTCACTAGCCC -3'
Posted On 2019-05-15