Incidental Mutation 'R6470:Plin2'
ID 516461
Institutional Source Beutler Lab
Gene Symbol Plin2
Ensembl Gene ENSMUSG00000028494
Gene Name perilipin 2
Synonyms Adrp, ADPH, adipophilin, Adfp
MMRRC Submission 044603-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.205) question?
Stock # R6470 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 86566623-86588297 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 86586607 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Lysine at position 75 (Q75K)
Ref Sequence ENSEMBL: ENSMUSP00000123456 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000466] [ENSMUST00000140382] [ENSMUST00000147097] [ENSMUST00000149700]
AlphaFold P43883
Predicted Effect probably damaging
Transcript: ENSMUST00000000466
AA Change: Q75K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000000466
Gene: ENSMUSG00000028494
AA Change: Q75K

DomainStartEndE-ValueType
Pfam:Perilipin 6 393 5.3e-158 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134094
Predicted Effect probably damaging
Transcript: ENSMUST00000140382
AA Change: Q75K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000123456
Gene: ENSMUSG00000028494
AA Change: Q75K

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 damaging
Transcript: ENSMUST00000149700
AA Change: Q75K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000123333
Gene: ENSMUSG00000028494
AA Change: Q75K

DomainStartEndE-ValueType
Pfam:Perilipin 1 196 5.2e-83 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.7%
  • 20x: 92.8%
Validation Efficiency 100% (45/45)
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933402J07Rik G T 8: 88,290,656 (GRCm39) V5L probably benign Het
Bptf A G 11: 106,963,593 (GRCm39) V1804A probably damaging Het
Brinp3 A G 1: 146,777,644 (GRCm39) D697G probably damaging Het
Carns1 T C 19: 4,221,782 (GRCm39) T158A possibly damaging Het
Cd300lg A G 11: 101,941,331 (GRCm39) N244S possibly damaging Het
Ces3b A T 8: 105,815,285 (GRCm39) Q12L possibly damaging Het
Chd9 A G 8: 91,659,426 (GRCm39) T129A probably damaging Het
Clca3a2 T A 3: 144,510,024 (GRCm39) probably null Het
Cubn G T 2: 13,327,804 (GRCm39) R2674S possibly damaging Het
Cyp2b10 T C 7: 25,611,081 (GRCm39) I146T possibly damaging Het
Cyp4v3 C T 8: 45,770,773 (GRCm39) W244* probably null Het
Dnah6 T A 6: 73,051,569 (GRCm39) D3075V probably damaging Het
Dpy19l2 A T 9: 24,572,039 (GRCm39) I327N possibly damaging Het
Dst T A 1: 34,334,318 (GRCm39) F4849I probably damaging Het
Dysf A G 6: 84,043,926 (GRCm39) I256V possibly damaging Het
Enpp5 G A 17: 44,396,155 (GRCm39) G356S probably damaging Het
Garin5b T C 7: 4,760,850 (GRCm39) T621A probably benign Het
Gba1 C T 3: 89,111,388 (GRCm39) P51L probably benign Het
Gm9936 T C 5: 114,995,482 (GRCm39) probably benign Het
Gria4 A G 9: 4,503,680 (GRCm39) F312S probably damaging Het
Ifna2 T C 4: 88,601,751 (GRCm39) N89S probably benign Het
Il17rb A G 14: 29,724,866 (GRCm39) S207P probably benign Het
Itga9 A T 9: 118,726,335 (GRCm39) I430F probably damaging Het
Kif1b T C 4: 149,277,053 (GRCm39) M1337V probably benign Het
Ltk A T 2: 119,583,516 (GRCm39) probably null Het
Nat8l C T 5: 34,155,836 (GRCm39) T164M probably damaging Het
Nrf1 A G 6: 30,102,199 (GRCm39) D166G probably damaging Het
Nxph3 A G 11: 95,401,919 (GRCm39) I165T possibly damaging Het
Or10a4 T C 7: 106,696,951 (GRCm39) I93T probably damaging Het
Phlpp2 A G 8: 110,663,826 (GRCm39) D955G probably benign Het
Pianp T A 6: 124,976,232 (GRCm39) probably benign Het
Qrich1 T C 9: 108,411,717 (GRCm39) V414A probably damaging Het
Ros1 A G 10: 52,042,140 (GRCm39) probably null Het
Sardh C T 2: 27,134,384 (GRCm39) R44Q probably damaging Het
Scaf4 C T 16: 90,026,526 (GRCm39) W1072* probably null Het
Sh3rf3 A G 10: 58,819,791 (GRCm39) K201E probably damaging Het
Shprh G T 10: 11,047,681 (GRCm39) A1010S probably damaging Het
Slc35d1 A G 4: 103,047,019 (GRCm39) S260P probably damaging Het
Smap2 GACTCTAC GAC 4: 120,830,282 (GRCm39) probably benign Het
Sptb A G 12: 76,659,603 (GRCm39) L1099P probably damaging Het
Srrt T C 5: 137,300,918 (GRCm39) D90G probably damaging Het
Syt10 T C 15: 89,676,804 (GRCm39) D394G probably damaging Het
Tlr3 T C 8: 45,850,422 (GRCm39) D301G probably damaging Het
Ubr3 T A 2: 69,795,804 (GRCm39) M916K probably benign 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
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
U24488:Plin2 UTSW 4 86,580,314 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CTATTAGAGTAATAAGAGTGAGCACCG -3'
(R):5'- ACTCCTCCGTGTTTGCAGAG -3'

Sequencing Primer
(F):5'- CACCGGTATGGCTGTGAAG -3'
(R):5'- TGATGAGAGTGGCCAACCTGC -3'
Posted On 2018-05-21