Incidental Mutation 'R5492:Plin1'
ID 432118
Institutional Source Beutler Lab
Gene Symbol Plin1
Ensembl Gene ENSMUSG00000030546
Gene Name perilipin 1
Synonyms perilipin B, Plin, Peri, perilipin A, 6030432J05Rik
MMRRC Submission 043053-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5492 (G1)
Quality Score 147
Status Not validated
Chromosome 7
Chromosomal Location 79370912-79382652 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to A at 79375460 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Stop codon at position 151 (R151*)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032762] [ENSMUST00000178257] [ENSMUST00000205413] [ENSMUST00000205747] [ENSMUST00000205915]
AlphaFold Q8CGN5
Predicted Effect probably null
Transcript: ENSMUST00000032762
AA Change: R230*
SMART Domains Protein: ENSMUSP00000032762
Gene: ENSMUSG00000030546
AA Change: R230*

DomainStartEndE-ValueType
Pfam:Perilipin 14 399 7.5e-117 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000178257
AA Change: R230*
SMART Domains Protein: ENSMUSP00000136996
Gene: ENSMUSG00000030546
AA Change: R230*

DomainStartEndE-ValueType
Pfam:Perilipin 7 400 1.2e-123 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000205413
Predicted Effect probably benign
Transcript: ENSMUST00000205553
Predicted Effect probably benign
Transcript: ENSMUST00000205747
Predicted Effect probably null
Transcript: ENSMUST00000205915
AA Change: R230*
Predicted Effect probably null
Transcript: ENSMUST00000206083
AA Change: R151*
Coding Region Coverage
  • 1x: 98.2%
  • 3x: 97.1%
  • 10x: 94.5%
  • 20x: 89.3%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene coats lipid storage droplets in adipocytes, thereby protecting them until they can be broken down by hormone-sensitive lipase. The encoded protein is the major cAMP-dependent protein kinase substrate in adipocytes and, when unphosphorylated, may play a role in the inhibition of lipolysis. Alternatively spliced transcript variants varying in the 5' UTR, but encoding the same protein, have been found for this gene. [provided by RefSeq, Feb 2009]
PHENOTYPE: Homozygous inactivation of this gene leads to increased lean body mass and altered adipocyte lipolysis, leptin production and susceptibility to diet-induced obesity. Increased oxygen and food consumption, impaired cold adaptation, and altered glucose andblood homeostasis have also been observed. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A830018L16Rik C T 1: 11,615,431 (GRCm39) R135C probably damaging Het
Abcd2 A G 15: 91,073,176 (GRCm39) Y328H probably benign Het
Abcg4 T C 9: 44,189,355 (GRCm39) T381A probably benign Het
Adamts12 A G 15: 11,336,384 (GRCm39) N1490D probably benign Het
Aldh18a1 C T 19: 40,539,734 (GRCm39) R747Q probably damaging Het
Armc8 G T 9: 99,409,184 (GRCm39) C169* probably null Het
Birc6 A C 17: 74,977,369 (GRCm39) N4388T probably damaging Het
Bsn G A 9: 107,989,714 (GRCm39) P2013S probably damaging Het
Cdc16 A G 8: 13,813,915 (GRCm39) probably null Het
Cmtr1 T A 17: 29,909,316 (GRCm39) F408L probably damaging Het
Col4a2 C T 8: 11,488,608 (GRCm39) R1104W possibly damaging Het
Drg2 A C 11: 60,352,422 (GRCm39) H208P probably damaging Het
Frem3 A T 8: 81,339,306 (GRCm39) D533V probably damaging Het
Gm9930 T A 10: 9,410,337 (GRCm39) noncoding transcript Het
Haus5 A G 7: 30,358,380 (GRCm39) V305A possibly damaging Het
Hint3 C A 10: 30,494,245 (GRCm39) R30L probably benign Het
Hltf T A 3: 20,152,231 (GRCm39) probably null Het
Hmcn2 T A 2: 31,310,318 (GRCm39) L3304Q probably benign Het
Hspa2 A G 12: 76,451,308 (GRCm39) M1V probably null Het
Htr5b T C 1: 121,455,387 (GRCm39) T178A possibly damaging Het
Ighv1-11 A G 12: 114,576,084 (GRCm39) S44P probably damaging Het
Larp1b C T 3: 40,924,334 (GRCm39) R104W probably damaging Het
Map3k2 A G 18: 32,361,189 (GRCm39) T550A probably damaging Het
Map4 T A 9: 109,881,450 (GRCm39) S105T possibly damaging Het
Mgam T C 6: 40,733,297 (GRCm39) C691R probably damaging Het
Mms19 A G 19: 41,944,270 (GRCm39) I310T possibly damaging Het
Myh2 A C 11: 67,071,701 (GRCm39) K506T probably benign Het
Ngdn T C 14: 55,260,509 (GRCm39) V239A probably benign Het
Rbpjl GCC GC 2: 164,256,330 (GRCm39) probably null Het
Rdh16f2 G T 10: 127,702,623 (GRCm39) E67* probably null Het
Slc25a36 A C 9: 96,982,259 (GRCm39) C25W probably damaging Het
Stk31 G A 6: 49,375,177 (GRCm39) A49T probably damaging Het
Tigar T A 6: 127,066,167 (GRCm39) T124S possibly damaging Het
Tsn A G 1: 118,232,443 (GRCm39) V144A probably damaging Het
Zfp703 C T 8: 27,469,233 (GRCm39) P299L probably damaging Het
Zfp943 T A 17: 22,212,056 (GRCm39) C381S probably damaging Het
Zfyve19 A T 2: 119,039,595 (GRCm39) probably benign Het
Other mutations in Plin1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00231:Plin1 APN 7 79,376,408 (GRCm39) splice site probably benign
IGL03248:Plin1 APN 7 79,372,382 (GRCm39) missense probably damaging 1.00
R0408:Plin1 UTSW 7 79,372,394 (GRCm39) missense probably damaging 0.97
R1163:Plin1 UTSW 7 79,379,719 (GRCm39) missense probably damaging 1.00
R1524:Plin1 UTSW 7 79,376,338 (GRCm39) missense probably benign 0.07
R2004:Plin1 UTSW 7 79,375,378 (GRCm39) critical splice donor site probably benign
R2363:Plin1 UTSW 7 79,376,139 (GRCm39) critical splice donor site probably null
R5115:Plin1 UTSW 7 79,379,692 (GRCm39) unclassified probably benign
R5226:Plin1 UTSW 7 79,372,447 (GRCm39) missense probably damaging 0.99
R5354:Plin1 UTSW 7 79,375,469 (GRCm39) missense possibly damaging 0.89
R5545:Plin1 UTSW 7 79,376,257 (GRCm39) missense probably benign 0.27
R5647:Plin1 UTSW 7 79,371,320 (GRCm39) missense probably benign 0.25
R6191:Plin1 UTSW 7 79,371,347 (GRCm39) missense probably benign 0.00
R6299:Plin1 UTSW 7 79,371,224 (GRCm39) missense probably benign 0.04
R7126:Plin1 UTSW 7 79,376,412 (GRCm39) splice site probably null
R7203:Plin1 UTSW 7 79,373,192 (GRCm39) missense probably damaging 0.98
R8125:Plin1 UTSW 7 79,379,599 (GRCm39) missense possibly damaging 0.80
R8190:Plin1 UTSW 7 79,373,028 (GRCm39) missense probably benign 0.00
R8407:Plin1 UTSW 7 79,373,051 (GRCm39) missense probably benign
R9374:Plin1 UTSW 7 79,372,544 (GRCm39) missense probably benign 0.17
R9499:Plin1 UTSW 7 79,372,544 (GRCm39) missense probably benign 0.17
Z1177:Plin1 UTSW 7 79,371,299 (GRCm39) missense probably benign 0.43
Predicted Primers PCR Primer
(F):5'- TGTTTCCAAGACAGAAGGGAC -3'
(R):5'- CCCAAAATGTCACATGTATGAGTG -3'

Sequencing Primer
(F):5'- CTAGGAAACCCACAGAGCAGG -3'
(R):5'- GTTGTCTGAATGCCTGAAAAAGCC -3'
Posted On 2016-10-05