Incidental Mutation 'R6299:Plin1'
ID 508968
Institutional Source Beutler Lab
Gene Symbol Plin1
Ensembl Gene ENSMUSG00000030546
Gene Name perilipin 1
Synonyms perilipin B, Plin, Peri, perilipin A, 6030432J05Rik
MMRRC Submission 044465-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6299 (G1)
Quality Score 135.008
Status Validated
Chromosome 7
Chromosomal Location 79370912-79382652 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 79371224 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glycine at position 500 (V500G)
Ref Sequence ENSEMBL: ENSMUSP00000146028 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032762] [ENSMUST00000178257] [ENSMUST00000205915]
AlphaFold Q8CGN5
Predicted Effect probably benign
Transcript: ENSMUST00000032762
AA Change: V500G

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000032762
Gene: ENSMUSG00000030546
AA Change: V500G

DomainStartEndE-ValueType
Pfam:Perilipin 14 399 7.5e-117 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000178257
AA Change: V500G

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000136996
Gene: ENSMUSG00000030546
AA Change: V500G

DomainStartEndE-ValueType
Pfam:Perilipin 7 400 1.2e-123 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000205553
Predicted Effect probably benign
Transcript: ENSMUST00000205915
AA Change: V500G

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
Predicted Effect probably benign
Transcript: ENSMUST00000206083
Meta Mutation Damage Score 0.0941 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.2%
Validation Efficiency 100% (61/61)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bms1 G A 6: 118,395,476 (GRCm39) R24W probably damaging Het
C130050O18Rik A T 5: 139,400,126 (GRCm39) S60C probably damaging Het
Cabcoco1 A G 10: 68,272,720 (GRCm39) Y222H probably damaging Het
Cc2d1b T C 4: 108,485,335 (GRCm39) V559A probably benign Het
Cgrrf1 T A 14: 47,077,647 (GRCm39) N46K probably damaging Het
Clca3a1 T C 3: 144,464,275 (GRCm39) D114G probably damaging Het
Clcnkb T A 4: 141,138,034 (GRCm39) L279F probably damaging Het
Cr2 T C 1: 194,850,954 (GRCm39) T151A probably damaging Het
Creb3l3 C T 10: 80,924,447 (GRCm39) E236K probably damaging Het
Dcstamp T A 15: 39,618,599 (GRCm39) V336D probably damaging Het
Dop1a T G 9: 86,386,265 (GRCm39) F379V probably damaging Het
Esf1 T C 2: 139,965,554 (GRCm39) K714R possibly damaging Het
Exoc3l4 A T 12: 111,388,513 (GRCm39) M1L possibly damaging Het
Extl3 T C 14: 65,314,121 (GRCm39) R354G probably benign Het
Fastkd3 T C 13: 68,735,855 (GRCm39) L535P probably damaging Het
Gab2 A G 7: 96,731,066 (GRCm39) T12A probably benign Het
Gm10549 C A 18: 33,597,358 (GRCm39) probably benign Het
Golga4 T A 9: 118,386,438 (GRCm39) S1187T probably benign Het
Haus3 A G 5: 34,325,140 (GRCm39) V173A probably benign Het
Herc2 T A 7: 55,784,803 (GRCm39) Y1416N possibly damaging Het
Hspg2 A G 4: 137,272,016 (GRCm39) Y2566C probably damaging Het
Inpp5f A T 7: 128,237,884 (GRCm39) T34S possibly damaging Het
Iqck G A 7: 118,475,485 (GRCm39) G70S unknown Het
Jade1 T C 3: 41,568,160 (GRCm39) F743L probably damaging Het
Kif5a T C 10: 127,069,690 (GRCm39) K845R probably damaging Het
Klhl30 A G 1: 91,285,636 (GRCm39) probably null Het
Map2k1 T C 9: 64,121,772 (GRCm39) D67G possibly damaging Het
Mcm9 A C 10: 53,413,777 (GRCm39) C434W probably damaging Het
Muc4 T G 16: 32,570,853 (GRCm39) S638A possibly damaging Het
Nectin3 A G 16: 46,284,345 (GRCm39) V113A probably damaging Het
Nfya T C 17: 48,699,938 (GRCm39) probably benign Het
Nup155 G T 15: 8,157,922 (GRCm39) A460S possibly damaging Het
Nup210 T C 6: 91,051,270 (GRCm39) E371G possibly damaging Het
Olfm3 T C 3: 114,914,632 (GRCm39) S228P probably damaging Het
Or52n20 C A 7: 104,320,075 (GRCm39) D55E probably benign Het
Or8b51 A T 9: 38,569,073 (GRCm39) I205N possibly damaging Het
Ppfia1 A C 7: 144,064,049 (GRCm39) M513R probably benign Het
Ppp1cb T A 5: 32,640,798 (GRCm39) C27* probably null Het
Prss22 T A 17: 24,215,408 (GRCm39) I123F probably damaging Het
Rbm24 G T 13: 46,572,549 (GRCm39) V15L probably damaging Het
Reln T C 5: 22,491,942 (GRCm39) T97A possibly damaging Het
Sipa1l2 T C 8: 126,180,203 (GRCm39) T1065A possibly damaging Het
Sipa1l3 A C 7: 29,065,974 (GRCm39) probably null Het
Snrnp200 T A 2: 127,064,081 (GRCm39) Y689* probably null Het
Srcap T C 7: 127,129,626 (GRCm39) probably benign Het
Sv2a T C 3: 96,095,565 (GRCm39) probably null Het
Tcf12 A T 9: 71,766,211 (GRCm39) V474D probably damaging Het
Tpcn2 A T 7: 144,815,980 (GRCm39) S403T probably damaging Het
Trim65 C A 11: 116,017,377 (GRCm39) A362S probably benign Het
Trmt1 T A 8: 85,423,919 (GRCm39) C36* probably null Het
Trpm8 T A 1: 88,282,201 (GRCm39) L699Q probably damaging Het
Ube2m A C 7: 12,769,797 (GRCm39) I116R probably damaging Het
Ulk1 T C 5: 110,938,963 (GRCm39) K492E possibly damaging Het
Usp40 T A 1: 87,925,649 (GRCm39) K193N probably damaging Het
Vmn1r3 A G 4: 3,185,098 (GRCm39) S70P possibly damaging Het
Vmn2r2 T A 3: 64,024,074 (GRCm39) K836* probably null Het
Vmn2r75 T A 7: 85,814,482 (GRCm39) H337L probably benign Het
Wars1 G A 12: 108,827,309 (GRCm39) T437M probably benign Het
Zdhhc5 T C 2: 84,520,825 (GRCm39) T451A probably benign Het
Zfp788 T G 7: 41,297,965 (GRCm39) H180Q possibly damaging Het
Zkscan7 A G 9: 122,717,782 (GRCm39) E59G probably 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
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
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'- ACATGATGTGTGCCTCGAG -3'
(R):5'- CGATAACCCTTCAGCAGAGG -3'

Sequencing Primer
(F):5'- ATGTGTGCCTCGAGAGCATC -3'
(R):5'- CCTTCAGCAGAGGCGGAG -3'
Posted On 2018-04-02