Incidental Mutation 'R7126:Plin1'
ID 568401
Institutional Source Beutler Lab
Gene Symbol Plin1
Ensembl Gene ENSMUSG00000030546
Gene Name perilipin 1
Synonyms perilipin B, Plin, Peri, perilipin A, 6030432J05Rik
MMRRC Submission 045213-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7126 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 79370912-79382652 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 79376412 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000032762] [ENSMUST00000178257] [ENSMUST00000205413] [ENSMUST00000205747] [ENSMUST00000205915]
AlphaFold Q8CGN5
Predicted Effect probably null
Transcript: ENSMUST00000032762
SMART Domains Protein: ENSMUSP00000032762
Gene: ENSMUSG00000030546

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

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 null
Transcript: ENSMUST00000205747
Predicted Effect probably null
Transcript: ENSMUST00000205915
Predicted Effect probably null
Transcript: ENSMUST00000206083
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 97% (73/75)
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810062G17Rik T C 3: 36,535,988 (GRCm39) C85R unknown Het
3110082I17Rik G T 5: 139,347,005 (GRCm39) H153Q unknown Het
Acadsb T C 7: 131,039,177 (GRCm39) I316T probably benign Het
Acsbg2 A T 17: 57,153,633 (GRCm39) N523K probably damaging Het
Ahnak C T 19: 8,979,723 (GRCm39) P336S possibly damaging Het
Ankdd1b A G 13: 96,566,370 (GRCm39) V277A possibly damaging Het
Aspm A G 1: 139,408,541 (GRCm39) Y2476C probably benign Het
Atg13 G A 2: 91,510,765 (GRCm39) R321W probably damaging Het
B4galt2 A G 4: 117,734,735 (GRCm39) F211S probably damaging Het
Baiap3 T A 17: 25,464,119 (GRCm39) T913S possibly damaging Het
Btbd18 A T 2: 84,496,546 (GRCm39) E61D possibly damaging Het
Btnl9 G T 11: 49,060,082 (GRCm39) S555R probably damaging Het
Cbs T A 17: 31,838,113 (GRCm39) M379L probably benign Het
Chd9 G A 8: 91,741,853 (GRCm39) G1614D unknown Het
Cmya5 G A 13: 93,226,448 (GRCm39) P2880L probably benign Het
Cnnm1 T C 19: 43,473,292 (GRCm39) S729P probably damaging Het
Cox16 T A 12: 81,518,940 (GRCm39) E70D probably benign Het
Cp A G 3: 20,034,788 (GRCm39) H699R probably damaging Het
Cyp2d26 T C 15: 82,678,209 (GRCm39) N56D probably benign Het
Dennd4c A G 4: 86,725,667 (GRCm39) Y707C probably damaging Het
Dnah5 A T 15: 28,349,983 (GRCm39) E2555D probably benign Het
Ess2 T C 16: 17,729,154 (GRCm39) T6A unknown Het
Filip1 A G 9: 79,805,577 (GRCm39) L59P possibly damaging Het
Fsip2 A G 2: 82,813,485 (GRCm39) N3268S possibly damaging Het
Gja10 A T 4: 32,601,014 (GRCm39) C457S probably benign Het
Gm4779 TCGGGGCCGGGGCCGGGGCCG TCGGGGCCGGGGCCGGGGCCGGGGCCG X: 100,837,777 (GRCm39) probably benign Het
Gm47959 G A 1: 82,978,503 (GRCm39) G57S unknown Het
Grep1 C T 17: 23,939,538 (GRCm39) V8I probably benign Het
Grid2 T A 6: 64,053,794 (GRCm39) V331E probably damaging Het
Inpp4a C A 1: 37,413,353 (GRCm39) H123Q probably benign Het
Ireb2 T A 9: 54,793,851 (GRCm39) Y260* probably null Het
Itpr2 G A 6: 146,259,294 (GRCm39) Q628* probably null Het
Kbtbd11 G A 8: 15,078,759 (GRCm39) A453T probably damaging Het
Kcnj2 A G 11: 110,963,648 (GRCm39) T347A probably damaging Het
Kif19b A T 5: 140,477,073 (GRCm39) D874V probably benign Het
Klhl12 A G 1: 134,395,521 (GRCm39) H161R probably damaging Het
Krt78 T C 15: 101,856,871 (GRCm39) E412G probably damaging Het
Lzic A G 4: 149,573,132 (GRCm39) I95V probably damaging Het
Mme C T 3: 63,276,322 (GRCm39) P700S probably damaging Het
Mroh2a G T 1: 88,182,657 (GRCm39) R1195L possibly damaging Het
Mthfd2 A G 6: 83,290,472 (GRCm39) V53A probably benign Het
Mtus1 A G 8: 41,468,439 (GRCm39) L210P probably damaging Het
Muc16 T C 9: 18,552,512 (GRCm39) T4594A probably benign Het
Niban1 T A 1: 151,590,318 (GRCm39) C537* probably null Het
Olfm5 A T 7: 103,809,187 (GRCm39) C208S probably damaging Het
Or10q1 T A 19: 13,726,887 (GRCm39) I139N possibly damaging Het
Or2ad1 A T 13: 21,326,888 (GRCm39) L113H probably damaging Het
Or7a39 T C 10: 78,715,411 (GRCm39) V135A possibly damaging Het
Parp12 T C 6: 39,088,670 (GRCm39) I189V probably benign Het
Prl7a1 C T 13: 27,826,402 (GRCm39) probably null Het
Ptpn23 T C 9: 110,217,812 (GRCm39) D711G probably benign Het
Rgs22 A T 15: 36,103,954 (GRCm39) I169N probably damaging Het
Scn7a G T 2: 66,587,630 (GRCm39) H24Q possibly damaging Het
Scrt2 C T 2: 151,935,006 (GRCm39) P53L probably damaging Het
Sh3rf1 A T 8: 61,802,458 (GRCm39) I264L probably benign Het
Smarcd1 A T 15: 99,607,206 (GRCm39) D393V probably damaging Het
Spag17 T G 3: 100,008,751 (GRCm39) N1960K probably benign Het
Ssb A G 2: 69,696,845 (GRCm39) T62A possibly damaging Het
Taar7b T A 10: 23,875,960 (GRCm39) Y42N possibly damaging Het
Terf1 A T 1: 15,883,363 (GRCm39) I159L probably benign Het
Tff3 T G 17: 31,346,410 (GRCm39) N54T probably benign Het
Top2a A G 11: 98,905,818 (GRCm39) L285P probably benign Het
Trim24 A G 6: 37,896,392 (GRCm39) Y283C probably damaging Het
Trim58 T C 11: 58,531,405 (GRCm39) C38R probably damaging Het
Trpa1 T A 1: 14,960,648 (GRCm39) T647S probably benign Het
Trpm4 A T 7: 44,960,133 (GRCm39) probably null Het
Trpm6 C T 19: 18,831,397 (GRCm39) Q1421* probably null Het
Ubr2 A T 17: 47,284,982 (GRCm39) probably null Het
Vmn1r46 T G 6: 89,953,976 (GRCm39) I275S possibly damaging Het
Vmn2r54 A G 7: 12,366,088 (GRCm39) F282S possibly damaging Het
Vmn2r57 A G 7: 41,049,218 (GRCm39) S844P possibly damaging Het
Vps13a A C 19: 16,688,243 (GRCm39) C855G probably benign Het
Wdr31 T A 4: 62,381,666 (GRCm39) Q55L 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
R5492:Plin1 UTSW 7 79,375,460 (GRCm39) nonsense probably null
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
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'- ATGCTTCCCAGAGCCAGATC -3'
(R):5'- TAGTTGGCACAGCAAAGGTG -3'

Sequencing Primer
(F):5'- GAGCCAGATCAGCCCCTC -3'
(R):5'- AGACAGGGTCTCATTATGTAGCCC -3'
Posted On 2019-07-16