Incidental Mutation 'U24488:Plin2'
ID 509859
Institutional Source Beutler Lab
Gene Symbol Plin2
Ensembl Gene ENSMUSG00000028494
Gene Name perilipin 2
Synonyms Adrp, ADPH, adipophilin, Adfp
Accession Numbers
Essential gene? Probably non essential (E-score: 0.205) question?
Stock # U24488 (G0')
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 86566623-86588297 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 86580314 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 60 (V60A)
Ref Sequence ENSEMBL: ENSMUSP00000119063 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000466] [ENSMUST00000140382] [ENSMUST00000147097] [ENSMUST00000149700]
AlphaFold P43883
Predicted Effect probably damaging
Transcript: ENSMUST00000000466
AA Change: V149A

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000000466
Gene: ENSMUSG00000028494
AA Change: V149A

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 damaging
Transcript: ENSMUST00000140382
AA Change: V149A

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000123456
Gene: ENSMUSG00000028494
AA Change: V149A

DomainStartEndE-ValueType
Pfam:Perilipin 1 196 5.2e-83 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000147097
AA Change: V60A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000119063
Gene: ENSMUSG00000028494
AA Change: V60A

DomainStartEndE-ValueType
Pfam:Perilipin 1 157 3.1e-50 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000149700
AA Change: V149A

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000123333
Gene: ENSMUSG00000028494
AA Change: V149A

DomainStartEndE-ValueType
Pfam:Perilipin 1 196 5.2e-83 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154999
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 99.3%
  • 20x: 98.0%
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd36 A G 11: 5,580,772 (GRCm39) Y922C probably damaging Het
Arhgef40 A G 14: 52,235,673 (GRCm39) T1185A probably benign Het
Atf7ip2 A G 16: 10,022,537 (GRCm39) N72S probably damaging Het
Carmil3 A G 14: 55,734,636 (GRCm39) D455G probably benign Het
Ccdc171 A T 4: 83,579,954 (GRCm39) E567V probably damaging Het
Chmp1b T A 18: 67,338,945 (GRCm39) L125Q probably damaging Het
Cnr1 T A 4: 33,944,927 (GRCm39) N438K probably benign Het
Cplane1 G T 15: 8,211,694 (GRCm39) G345C probably damaging Het
Csmd3 G A 15: 47,573,795 (GRCm39) T2091M probably damaging Het
Cyp4a29 A T 4: 115,108,204 (GRCm39) H342L possibly damaging Het
Dnah10 G A 5: 124,891,044 (GRCm39) D3212N probably damaging Het
Dnah2 G A 11: 69,374,648 (GRCm39) T1447I probably damaging Het
F11 A G 8: 45,695,349 (GRCm39) S540P probably benign Het
Fcrl6 T A 1: 172,426,437 (GRCm39) H120L probably damaging Het
Frmd6 T C 12: 70,940,653 (GRCm39) S433P probably damaging Het
Fundc1 G T X: 17,434,342 (GRCm39) A64E probably damaging Het
Garin2 A T 12: 78,761,811 (GRCm39) K158N probably damaging Het
Grid1 A G 14: 35,302,534 (GRCm39) E933G probably benign Het
Haus5 C T 7: 30,358,401 (GRCm39) W298* probably null Het
Hoxb3 C A 11: 96,235,456 (GRCm39) Q128K probably benign Het
Il6st C T 13: 112,631,168 (GRCm39) T369M possibly damaging Het
Itk A C 11: 46,228,971 (GRCm39) M403R probably damaging Het
Katnip A T 7: 125,369,853 (GRCm39) D147V probably damaging Het
Kif2c T C 4: 117,039,639 (GRCm39) Q17R probably benign Het
Kifap3 T C 1: 163,610,604 (GRCm39) I28T possibly damaging Het
Kit A T 5: 75,783,674 (GRCm39) R384* probably null Het
Ksr1 T A 11: 78,938,267 (GRCm39) I42F probably damaging Het
Lhcgr T A 17: 89,079,513 (GRCm39) probably null Het
Lrrc36 C T 8: 106,176,384 (GRCm39) H253Y probably benign Het
Mad1l1 T A 5: 140,300,840 (GRCm39) N19Y probably damaging Het
Marf1 A T 16: 13,950,230 (GRCm39) L1022* probably null Het
Mical3 T G 6: 120,978,457 (GRCm39) Q225P possibly damaging Het
Minar1 C A 9: 89,485,100 (GRCm39) G99V probably damaging Het
Myt1l T A 12: 29,876,895 (GRCm39) M182K unknown Het
Nepro A G 16: 44,554,949 (GRCm39) T342A probably benign Het
Nlrp5 A T 7: 23,117,653 (GRCm39) D459V possibly damaging Het
Nrcam C T 12: 44,584,042 (GRCm39) P39S probably damaging Het
Or2ag1b A T 7: 106,288,296 (GRCm39) I214N probably damaging Het
Ostm1 A G 10: 42,555,227 (GRCm39) D83G possibly damaging Het
Otoa A T 7: 120,717,763 (GRCm39) probably null Het
Pi4ka A G 16: 17,143,040 (GRCm39) I824T probably damaging Het
Plec C T 15: 76,061,930 (GRCm39) R2534H probably benign Het
Rps6ka4 A G 19: 6,809,724 (GRCm39) L367P probably damaging Het
Senp7 A G 16: 56,005,182 (GRCm39) N912D probably damaging Het
Slc25a21 G T 12: 56,785,282 (GRCm39) N198K possibly damaging Het
Slc4a10 A G 2: 61,877,002 (GRCm39) D5G probably benign Het
Tex16 T C X: 111,028,815 (GRCm39) V438A probably benign Het
Tmem37 T C 1: 119,995,684 (GRCm39) Y131C probably benign Het
Top2a A C 11: 98,913,252 (GRCm39) M60R probably damaging Het
Ush2a C T 1: 188,162,963 (GRCm39) T1015I probably damaging Het
Vmn1r172 A T 7: 23,359,171 (GRCm39) I19F probably benign Het
Vmn1r230 A C 17: 21,067,014 (GRCm39) I68L probably benign Het
Vmn2r45 A C 7: 8,475,361 (GRCm39) C556G probably damaging Het
Vmn2r54 A G 7: 12,349,356 (GRCm39) I742T possibly damaging Het
Vps13c A G 9: 67,813,198 (GRCm39) K960E probably benign Het
Wdcp T A 12: 4,900,405 (GRCm39) V87E probably damaging Het
Wiz C T 17: 32,606,649 (GRCm39) E29K probably damaging Het
Wnk3 C T X: 149,992,456 (GRCm39) T298I probably damaging Het
Yif1b A C 7: 28,943,594 (GRCm39) Q56P probably benign Het
Zbtb25 A G 12: 76,396,014 (GRCm39) W403R probably benign Het
Zcrb1 A T 15: 93,285,515 (GRCm39) S155R probably damaging Het
Zmym4 A T 4: 126,819,453 (GRCm39) I150K possibly damaging Het
Other mutations in Plin2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00826:Plin2 APN 4 86,582,683 (GRCm39) missense possibly damaging 0.88
IGL02501:Plin2 APN 4 86,582,723 (GRCm39) nonsense probably null
IGL02551:Plin2 APN 4 86,576,929 (GRCm39) missense probably benign 0.00
IGL03294:Plin2 APN 4 86,580,315 (GRCm39) missense probably damaging 0.96
R1484:Plin2 UTSW 4 86,575,481 (GRCm39) missense probably benign 0.00
R2165:Plin2 UTSW 4 86,586,669 (GRCm39) missense probably damaging 1.00
R2870:Plin2 UTSW 4 86,586,915 (GRCm39) start codon destroyed probably null 0.99
R2870:Plin2 UTSW 4 86,586,915 (GRCm39) start codon destroyed probably null 0.99
R2871:Plin2 UTSW 4 86,586,915 (GRCm39) start codon destroyed probably null 0.99
R2871:Plin2 UTSW 4 86,586,915 (GRCm39) start codon destroyed probably null 0.99
R2872:Plin2 UTSW 4 86,586,915 (GRCm39) start codon destroyed probably null 0.99
R2872:Plin2 UTSW 4 86,586,915 (GRCm39) start codon destroyed probably null 0.99
R2873:Plin2 UTSW 4 86,586,915 (GRCm39) start codon destroyed probably null 0.99
R3125:Plin2 UTSW 4 86,575,381 (GRCm39) nonsense probably null
R4948:Plin2 UTSW 4 86,580,228 (GRCm39) missense probably benign 0.00
R5189:Plin2 UTSW 4 86,575,383 (GRCm39) missense probably damaging 1.00
R5563:Plin2 UTSW 4 86,580,341 (GRCm39) missense probably benign 0.01
R6229:Plin2 UTSW 4 86,586,903 (GRCm39) missense probably benign
R6258:Plin2 UTSW 4 86,575,526 (GRCm39) missense probably damaging 0.97
R6260:Plin2 UTSW 4 86,575,526 (GRCm39) missense probably damaging 0.97
R6391:Plin2 UTSW 4 86,580,236 (GRCm39) missense probably null 0.99
R6470:Plin2 UTSW 4 86,586,607 (GRCm39) missense probably damaging 1.00
R6493:Plin2 UTSW 4 86,580,224 (GRCm39) missense possibly damaging 0.80
R6562:Plin2 UTSW 4 86,576,832 (GRCm39) missense probably benign 0.07
R6706:Plin2 UTSW 4 86,578,357 (GRCm39) missense probably benign 0.02
R7310:Plin2 UTSW 4 86,586,628 (GRCm39) missense probably benign 0.03
R8057:Plin2 UTSW 4 86,575,638 (GRCm39) missense possibly damaging 0.80
R8171:Plin2 UTSW 4 86,575,349 (GRCm39) missense probably damaging 0.99
R9003:Plin2 UTSW 4 86,580,324 (GRCm39) missense probably benign 0.08
R9041:Plin2 UTSW 4 86,578,504 (GRCm39) missense probably benign
R9789:Plin2 UTSW 4 86,576,914 (GRCm39) missense probably damaging 1.00
R9800:Plin2 UTSW 4 86,586,742 (GRCm39) missense possibly damaging 0.78
Predicted Primers PCR Primer
(F):5'- TGTCTGAGTGAGAGTGTCCC -3'
(R):5'- TAAGCCGGCTTGTCTGTTTC -3'

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