Incidental Mutation 'R8407:Plin1'
ID 652469
Institutional Source Beutler Lab
Gene Symbol Plin1
Ensembl Gene ENSMUSG00000030546
Gene Name perilipin 1
Synonyms perilipin B, Plin, Peri, perilipin A, 6030432J05Rik
MMRRC Submission 067814-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8407 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 79370912-79382652 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 79373051 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 306 (D306G)
Ref Sequence ENSEMBL: ENSMUSP00000146028 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032762] [ENSMUST00000178257] [ENSMUST00000205747] [ENSMUST00000205915]
AlphaFold Q8CGN5
Predicted Effect probably benign
Transcript: ENSMUST00000032762
AA Change: D306G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000032762
Gene: ENSMUSG00000030546
AA Change: D306G

DomainStartEndE-ValueType
Pfam:Perilipin 14 399 7.5e-117 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000178257
AA Change: D306G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000136996
Gene: ENSMUSG00000030546
AA Change: D306G

DomainStartEndE-ValueType
Pfam:Perilipin 7 400 1.2e-123 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000205553
Predicted Effect probably benign
Transcript: ENSMUST00000205747
Predicted Effect probably benign
Transcript: ENSMUST00000205915
AA Change: D306G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000206083
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acly T C 11: 100,384,897 (GRCm39) I629V possibly damaging Het
Ahnak C T 19: 8,993,037 (GRCm39) P4774S probably benign Het
Arhgef12 C T 9: 42,937,475 (GRCm39) probably null Het
BC048562 T A 9: 108,315,631 (GRCm39) S12R possibly damaging Het
Calhm2 G A 19: 47,098,755 (GRCm39) Q310* probably null Het
Celsr3 A G 9: 108,706,256 (GRCm39) E913G probably damaging Het
Cep68 T C 11: 20,190,446 (GRCm39) S189G possibly damaging Het
Cilp C A 9: 65,181,898 (GRCm39) P336T probably damaging Het
Cnot4 A G 6: 35,033,154 (GRCm39) S288P probably benign Het
Cst13 T C 2: 148,665,124 (GRCm39) S40P probably damaging Het
Cyp4f37 A T 17: 32,853,158 (GRCm39) D374V probably damaging Het
Ddit3 A G 10: 127,131,318 (GRCm39) T37A probably benign Het
Dnah2 T C 11: 69,350,104 (GRCm39) N2343S probably benign Het
Emp3 G A 7: 45,569,445 (GRCm39) P32L probably damaging Het
Esyt1 G T 10: 128,347,796 (GRCm39) L965M probably damaging Het
Fbxw28 T A 9: 109,155,269 (GRCm39) I406L probably benign Het
Fgf10 A G 13: 118,851,938 (GRCm39) T7A possibly damaging Het
Frs3 A T 17: 48,009,552 (GRCm39) D11V probably damaging Het
Glmn A G 5: 107,718,057 (GRCm39) S287P probably benign Het
Glyctk C T 9: 106,033,141 (GRCm39) A291T probably benign Het
H2bc12 G T 13: 22,220,217 (GRCm39) G54V probably damaging Het
Ibtk A T 9: 85,603,119 (GRCm39) F629I possibly damaging Het
Kcnh8 C A 17: 53,212,101 (GRCm39) A633E probably damaging Het
Kif24 T C 4: 41,394,488 (GRCm39) N929S probably benign Het
Ldlrap1 T C 4: 134,484,736 (GRCm39) K86R probably damaging Het
Lfng G A 5: 140,598,981 (GRCm39) E297K probably damaging Het
Lmod1 C A 1: 135,292,734 (GRCm39) P530T possibly damaging Het
Lmod1 A G 1: 135,291,763 (GRCm39) K206R probably benign Het
Lnp1 A T 16: 56,748,251 (GRCm39) S14T probably benign Het
Map3k6 T A 4: 132,974,904 (GRCm39) Y646N possibly damaging Het
Mapk14 G A 17: 28,963,983 (GRCm39) V290I probably benign Het
Mrpl22 C A 11: 58,066,156 (GRCm39) Y83* probably null Het
Myh6 T C 14: 55,201,388 (GRCm39) N104D probably benign Het
Nalcn T A 14: 123,554,683 (GRCm39) M903L probably damaging Het
Nfat5 C T 8: 108,094,047 (GRCm39) Q763* probably null Het
Or5w19 A C 2: 87,698,437 (GRCm39) Y34S probably damaging Het
Ppp1r12a T A 10: 108,076,042 (GRCm39) probably null Het
Prelid1 T A 13: 55,470,672 (GRCm39) H33Q probably damaging Het
Prkcz C T 4: 155,352,673 (GRCm39) A485T probably damaging Het
Ptch1 T C 13: 63,662,057 (GRCm39) E1169G probably null Het
Rps19 C A 7: 24,588,517 (GRCm39) T181K unknown Het
Skic2 G A 17: 35,060,103 (GRCm39) A889V probably benign Het
Slc22a3 A C 17: 12,640,368 (GRCm39) C538G probably benign Het
Slc2a10 T A 2: 165,356,787 (GRCm39) F149Y possibly damaging Het
Smarcal1 A G 1: 72,640,554 (GRCm39) I516M probably benign Het
Smarcc2 T A 10: 128,318,190 (GRCm39) W601R probably damaging Het
Son AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG 16: 91,457,222 (GRCm39) probably benign Het
Srp68 A G 11: 116,143,589 (GRCm39) S369P probably benign Het
Tex2 C T 11: 106,459,221 (GRCm39) E70K probably damaging Het
Ticam2 A G 18: 46,693,590 (GRCm39) S166P probably damaging Het
Trpv5 A G 6: 41,652,272 (GRCm39) S138P probably benign Het
Ttll8 C T 15: 88,798,741 (GRCm39) V665I probably benign Het
Vmn2r81 T C 10: 79,104,028 (GRCm39) L217P possibly damaging Het
Zbtb4 T C 11: 69,669,101 (GRCm39) V608A probably benign Het
Zfp957 A G 14: 79,451,352 (GRCm39) V149A 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
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
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'- CCCACTGAGTGACATAGTGAC -3'
(R):5'- TGGGCTTTTCACCCTAGAGG -3'

Sequencing Primer
(F):5'- GACATAGTGACACTTTGTCCGCTG -3'
(R):5'- CCTAGAGGGGTCTGCTGAG -3'
Posted On 2020-10-20