Incidental Mutation 'IGL02551:Plin2'
ID298097
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Plin2
Ensembl Gene ENSMUSG00000028494
Gene Nameperilipin 2
Synonymsadipophilin, Adrp, Adfp, ADPH
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.235) question?
Stock #IGL02551
Quality Score
Status
Chromosome4
Chromosomal Location86648386-86670060 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 86658692 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Isoleucine at position 265 (M265I)
Ref Sequence ENSEMBL: ENSMUSP00000000466 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000466] [ENSMUST00000140382] [ENSMUST00000147097] [ENSMUST00000149700]
Predicted Effect probably benign
Transcript: ENSMUST00000000466
AA Change: M265I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000000466
Gene: ENSMUSG00000028494
AA Change: M265I

DomainStartEndE-ValueType
Pfam:Perilipin 6 393 5.3e-158 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134437
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138605
Predicted Effect probably benign
Transcript: ENSMUST00000140382
SMART Domains Protein: ENSMUSP00000123456
Gene: ENSMUSG00000028494

DomainStartEndE-ValueType
Pfam:Perilipin 1 196 5.2e-83 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000147097
SMART Domains Protein: ENSMUSP00000119063
Gene: ENSMUSG00000028494

DomainStartEndE-ValueType
Pfam:Perilipin 1 157 3.1e-50 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000149700
SMART Domains Protein: ENSMUSP00000123333
Gene: ENSMUSG00000028494

DomainStartEndE-ValueType
Pfam:Perilipin 1 196 5.2e-83 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154999
Coding Region Coverage
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 belongs to the perilipin family, members of which coat intracellular lipid storage droplets. This protein is associated with the lipid globule surface membrane material, and maybe involved in development and maintenance of adipose tissue. However, it is not restricted to adipocytes as previously thought, but is found in a wide range of cultured cell lines, including fibroblasts, endothelial and epithelial cells, and tissues, such as lactating mammary gland, adrenal cortex, Sertoli and Leydig cells, and hepatocytes in alcoholic liver cirrhosis, suggesting that it may serve as a marker of lipid accumulation in diverse cell types and diseases. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2011]
PHENOTYPE: Homozygotes for null mutations are resistant to diet-induced obesity and hepatic steatosis and may exhibit altered milk composition, vision abnormalities, or small sebaceous glands. Male mice homozygous for a gene trap allele are infertile. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1600012P17Rik G A 1: 158,969,048 noncoding transcript Het
Abca8a T C 11: 110,084,242 I109V probably benign Het
Acsm2 C T 7: 119,573,284 P117S probably damaging Het
Adamts18 C A 8: 113,699,072 C1186F probably damaging Het
Adamts5 A T 16: 85,870,038 V522E possibly damaging Het
Adcy10 A G 1: 165,543,233 T694A probably damaging Het
Adgra2 G A 8: 27,119,222 V609I probably benign Het
Agbl3 A G 6: 34,823,071 K638R possibly damaging Het
Alpk2 T A 18: 65,372,751 N66I probably damaging Het
Ap3b1 T A 13: 94,418,091 I245N probably damaging Het
Aqp9 A G 9: 71,132,640 V120A probably damaging Het
Arhgef17 T C 7: 100,930,346 E465G probably damaging Het
Btrc G T 19: 45,423,134 C31F possibly damaging Het
Calhm2 G A 19: 47,133,100 S210L probably damaging Het
Cnksr3 C A 10: 7,152,912 K153N probably damaging Het
Cnr1 T C 4: 33,943,686 S25P probably benign Het
Dnajc6 T A 4: 101,639,353 W838R probably damaging Het
Fam78a T A 2: 32,069,556 T181S probably damaging Het
Fat1 A G 8: 45,051,398 T4600A probably damaging Het
Fbxo31 A T 8: 121,566,344 Y101N probably damaging Het
Glmp A G 3: 88,325,082 M1V probably null Het
Gsdmc T A 15: 63,801,933 T168S probably benign Het
Has1 C T 17: 17,848,298 V265I probably damaging Het
Hmcn2 A G 2: 31,454,811 D4670G possibly damaging Het
Kcnj4 C T 15: 79,484,902 M292I probably benign Het
Kmo A T 1: 175,637,919 S80C probably damaging Het
Lrrc8d C T 5: 105,813,548 T608I possibly damaging Het
Mical2 A T 7: 112,323,990 N635I probably benign Het
Nags T C 11: 102,147,941 S403P probably damaging Het
Nalcn T A 14: 123,323,338 I776F probably benign Het
Ncan A T 8: 70,102,462 N1018K probably damaging Het
Notch3 T A 17: 32,154,731 probably benign Het
Nup93 C T 8: 94,227,833 Q53* probably null Het
Pdk2 T A 11: 95,028,586 M288L probably benign Het
Pkd1 A G 17: 24,573,815 Y1492C probably damaging Het
Pla2g12b T A 10: 59,403,870 W34R probably damaging Het
Pla2g6 T A 15: 79,299,094 D511V possibly damaging Het
Ppp6c A T 2: 39,206,657 F78I probably damaging Het
Prop1 A T 11: 50,950,946 M211K possibly damaging Het
Prr14l T A 5: 32,831,484 E222D probably damaging Het
Rtkn A T 6: 83,151,924 I454F probably damaging Het
Serinc2 T C 4: 130,260,774 I226V probably benign Het
Sh3bp1 T A 15: 78,904,338 H229Q probably benign Het
Slc13a3 G T 2: 165,424,573 F348L probably damaging Het
Slc6a15 T A 10: 103,404,275 probably benign Het
Spg7 G A 8: 123,076,978 G249E probably damaging Het
Tbc1d2 T C 4: 46,649,916 D40G probably benign Het
Tmcc2 A G 1: 132,357,579 L683P probably damaging Het
Triobp T C 15: 78,973,489 S1097P probably benign Het
Tspan9 T C 6: 127,965,763 D167G probably null Het
Ttll6 T C 11: 96,154,700 I581T probably benign Het
Usp29 A G 7: 6,963,353 probably null Het
Vgll4 A G 6: 114,862,293 W246R probably damaging Het
Vmn2r26 T C 6: 124,026,141 V170A probably benign Het
Vmn2r62 T C 7: 42,788,506 T185A probably benign Het
Vwce A G 19: 10,645,036 H234R possibly damaging Het
Zfp292 T C 4: 34,806,462 E2194G possibly damaging Het
Other mutations in Plin2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00826:Plin2 APN 4 86664446 missense possibly damaging 0.88
IGL02501:Plin2 APN 4 86664486 nonsense probably null
IGL03294:Plin2 APN 4 86662078 missense probably damaging 0.96
R1484:Plin2 UTSW 4 86657244 missense probably benign 0.00
R2165:Plin2 UTSW 4 86668432 missense probably damaging 1.00
R2870:Plin2 UTSW 4 86668678 start codon destroyed probably null 0.99
R2870:Plin2 UTSW 4 86668678 start codon destroyed probably null 0.99
R2871:Plin2 UTSW 4 86668678 start codon destroyed probably null 0.99
R2871:Plin2 UTSW 4 86668678 start codon destroyed probably null 0.99
R2872:Plin2 UTSW 4 86668678 start codon destroyed probably null 0.99
R2872:Plin2 UTSW 4 86668678 start codon destroyed probably null 0.99
R2873:Plin2 UTSW 4 86668678 start codon destroyed probably null 0.99
R3125:Plin2 UTSW 4 86657144 nonsense probably null
R4948:Plin2 UTSW 4 86661991 missense probably benign 0.00
R5189:Plin2 UTSW 4 86657146 missense probably damaging 1.00
R5563:Plin2 UTSW 4 86662104 missense probably benign 0.01
R6229:Plin2 UTSW 4 86668666 missense probably benign
R6258:Plin2 UTSW 4 86657289 missense probably damaging 0.97
R6260:Plin2 UTSW 4 86657289 missense probably damaging 0.97
R6391:Plin2 UTSW 4 86661999 missense probably null 0.99
R6470:Plin2 UTSW 4 86668370 missense probably damaging 1.00
R6493:Plin2 UTSW 4 86661987 missense possibly damaging 0.80
R6562:Plin2 UTSW 4 86658595 missense probably benign 0.07
R6706:Plin2 UTSW 4 86660120 missense probably benign 0.02
R7310:Plin2 UTSW 4 86668391 missense probably benign 0.03
U24488:Plin2 UTSW 4 86662077 missense probably damaging 1.00
Posted On2015-04-16