Incidental Mutation 'R5545:Plin1'
ID 436188
Institutional Source Beutler Lab
Gene Symbol Plin1
Ensembl Gene ENSMUSG00000030546
Gene Name perilipin 1
Synonyms perilipin B, Plin, Peri, perilipin A, 6030432J05Rik
MMRRC Submission 043103-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5545 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 79370912-79382652 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 79376257 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 160 (T160A)
Ref Sequence ENSEMBL: ENSMUSP00000146028 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032762] [ENSMUST00000178257] [ENSMUST00000205413] [ENSMUST00000205747] [ENSMUST00000205915]
AlphaFold Q8CGN5
Predicted Effect probably benign
Transcript: ENSMUST00000032762
AA Change: T160A

PolyPhen 2 Score 0.272 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000032762
Gene: ENSMUSG00000030546
AA Change: T160A

DomainStartEndE-ValueType
Pfam:Perilipin 14 399 7.5e-117 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000178257
AA Change: T160A

PolyPhen 2 Score 0.272 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000136996
Gene: ENSMUSG00000030546
AA Change: T160A

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
AA Change: T160A

PolyPhen 2 Score 0.108 (Sensitivity: 0.93; Specificity: 0.86)
Predicted Effect probably benign
Transcript: ENSMUST00000205915
AA Change: T160A

PolyPhen 2 Score 0.272 (Sensitivity: 0.91; Specificity: 0.88)
Predicted Effect unknown
Transcript: ENSMUST00000206083
AA Change: T81A
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 95.9%
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: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410004B18Rik T C 3: 145,644,853 (GRCm39) probably null Het
Acot5 G A 12: 84,116,380 (GRCm39) R47Q possibly damaging Het
Akr1c19 A T 13: 4,292,594 (GRCm39) Y205F probably benign Het
Cdh6 T C 15: 13,041,235 (GRCm39) Y564C probably damaging Het
Cngb1 A G 8: 95,978,801 (GRCm39) S551P Het
Cyp20a1 T C 1: 60,415,241 (GRCm39) I289T possibly damaging Het
Herc6 A T 6: 57,634,992 (GRCm39) probably null Het
Ifnar2 G A 16: 91,181,913 (GRCm39) probably null Het
Kcnd2 A G 6: 21,217,018 (GRCm39) T241A probably damaging Het
Nfatc2ip T A 7: 125,989,642 (GRCm39) E247D possibly damaging Het
Or2k2 T G 4: 58,785,585 (GRCm39) I46L probably benign Het
Or2o1 G A 11: 49,051,453 (GRCm39) C204Y probably damaging Het
Pate10 A G 9: 35,652,940 (GRCm39) I61V probably benign Het
Plekhg2 T C 7: 28,061,886 (GRCm39) E638G probably damaging Het
Prox1 T A 1: 189,879,339 (GRCm39) N613I probably damaging Het
Ptpn13 A G 5: 103,709,830 (GRCm39) S1498G probably damaging Het
Ralbp1 C T 17: 66,157,099 (GRCm39) R598Q possibly damaging Het
Robo2 A C 16: 73,758,635 (GRCm39) V712G probably damaging Het
Rsl1d1 A G 16: 11,017,514 (GRCm39) F151L probably damaging Het
Scrn3 T A 2: 73,166,125 (GRCm39) I386N possibly damaging Het
Sorl1 T A 9: 41,902,921 (GRCm39) Y1591F probably benign Het
Tbr1 T G 2: 61,637,720 (GRCm39) V93G possibly damaging Het
Tmem229b A G 12: 79,011,583 (GRCm39) I116T probably damaging Het
Ttn T C 2: 76,594,720 (GRCm39) Q12115R possibly damaging Het
Ube3a C T 7: 58,921,772 (GRCm39) T48M probably damaging Het
Vnn3 A G 10: 23,742,992 (GRCm39) I401V probably benign Het
Wdr90 C T 17: 26,064,830 (GRCm39) R1744H probably damaging Het
Zc3h7a T C 16: 10,966,315 (GRCm39) D604G possibly damaging 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
R5492:Plin1 UTSW 7 79,375,460 (GRCm39) nonsense probably null
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'- CTGAAGATGCTGAGGGGTATC -3'
(R):5'- GATTCCACATAGCTCACCGC -3'

Sequencing Primer
(F):5'- CAGGGCCAGTAAGACCTGTATC -3'
(R):5'- ATAGCTCACCGCCTCCC -3'
Posted On 2016-10-24