Incidental Mutation 'IGL01969:Pnpla3'
ID 181635
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pnpla3
Ensembl Gene ENSMUSG00000041653
Gene Name patatin-like phospholipase domain containing 3
Synonyms Adpn
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01969
Quality Score
Status
Chromosome 15
Chromosomal Location 84052038-84071437 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 84063425 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 268 (A268T)
Ref Sequence ENSEMBL: ENSMUSP00000043826 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045289]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000045289
AA Change: A268T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000043826
Gene: ENSMUSG00000041653
AA Change: A268T

DomainStartEndE-ValueType
Pfam:Patatin 10 179 4.1e-17 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229976
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231124
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 is a triacylglycerol lipase that mediates triacylglycerol hydrolysis in adipocytes. The encoded protein, which appears to be membrane bound, may be involved in the balance of energy usage/storage in adipocytes. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal energy, glucose, and lipid homeostasis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afg3l1 C A 8: 124,207,170 (GRCm39) P74H probably damaging Het
Aire T A 10: 77,878,816 (GRCm39) D77V probably damaging Het
Ank2 T A 3: 126,746,872 (GRCm39) H571L possibly damaging Het
Apol10b T C 15: 77,472,885 (GRCm39) probably null Het
Cacna2d2 A T 9: 107,386,415 (GRCm39) M181L probably benign Het
Ccnl1 T C 3: 65,855,908 (GRCm39) probably benign Het
Chd9 A G 8: 91,760,138 (GRCm39) E1961G possibly damaging Het
Dnajc12 C A 10: 63,231,609 (GRCm39) H42N probably damaging Het
Eml4 T C 17: 83,753,409 (GRCm39) V248A possibly damaging Het
Epha10 A C 4: 124,779,670 (GRCm39) K172T probably damaging Het
Fat1 T C 8: 45,405,636 (GRCm39) Y796H probably damaging Het
Gpr176 A C 2: 118,110,118 (GRCm39) F380L probably damaging Het
Guca1a A T 17: 47,711,268 (GRCm39) M26K probably damaging Het
Gucy2g T G 19: 55,215,870 (GRCm39) M501L probably benign Het
Herc2 T C 7: 55,835,579 (GRCm39) probably benign Het
Itgav A G 2: 83,633,627 (GRCm39) E1028G probably damaging Het
Itpr1 A G 6: 108,354,652 (GRCm39) T179A probably damaging Het
Lpin2 A G 17: 71,538,502 (GRCm39) T383A probably benign Het
Midn A G 10: 79,991,093 (GRCm39) T325A probably benign Het
Mpdz A G 4: 81,276,961 (GRCm39) Y788H probably damaging Het
Muc1 A T 3: 89,139,313 (GRCm39) D571V probably damaging Het
Myo3a A T 2: 22,302,499 (GRCm39) H316L probably benign Het
Nagpa T C 16: 5,013,753 (GRCm39) K362E probably benign Het
Ola1 G A 2: 72,930,490 (GRCm39) A266V probably benign Het
Or1e33 T C 11: 73,738,435 (GRCm39) N172S possibly damaging Het
Or4a47 A G 2: 89,666,064 (GRCm39) I75T probably benign Het
Or5b97 C A 19: 12,878,416 (GRCm39) A243S possibly damaging Het
Otof A G 5: 30,539,827 (GRCm39) probably benign Het
Pi4ka A C 16: 17,196,347 (GRCm39) V105G probably benign Het
Plppr4 G T 3: 117,122,008 (GRCm39) T190K probably damaging Het
Ppp6r2 C T 15: 89,159,713 (GRCm39) H467Y probably damaging Het
Prkd2 C T 7: 16,599,682 (GRCm39) T715M probably damaging Het
Rusc2 A G 4: 43,415,738 (GRCm39) N348S probably benign Het
Ska3 A G 14: 58,049,119 (GRCm39) V284A probably benign Het
Slc23a1 A T 18: 35,757,807 (GRCm39) V199D possibly damaging Het
Slc6a13 T C 6: 121,312,601 (GRCm39) L445P probably damaging Het
Smo A T 6: 29,755,171 (GRCm39) probably null Het
Tmem131 A G 1: 36,864,541 (GRCm39) L564S possibly damaging Het
Ttc23l G A 15: 10,551,520 (GRCm39) Q69* probably null Het
Other mutations in Pnpla3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01510:Pnpla3 APN 15 84,055,273 (GRCm39) splice site probably benign
IGL02665:Pnpla3 APN 15 84,055,406 (GRCm39) missense probably benign 0.09
IGL03005:Pnpla3 APN 15 84,058,469 (GRCm39) missense probably damaging 1.00
IGL03037:Pnpla3 APN 15 84,056,960 (GRCm39) missense probably damaging 1.00
R0136:Pnpla3 UTSW 15 84,058,679 (GRCm39) critical splice donor site probably null
R0666:Pnpla3 UTSW 15 84,063,506 (GRCm39) missense probably benign
R1544:Pnpla3 UTSW 15 84,065,247 (GRCm39) missense probably benign 0.36
R4226:Pnpla3 UTSW 15 84,063,391 (GRCm39) missense probably benign 0.02
R4227:Pnpla3 UTSW 15 84,063,391 (GRCm39) missense probably benign 0.02
R6178:Pnpla3 UTSW 15 84,065,132 (GRCm39) missense probably benign 0.32
R6332:Pnpla3 UTSW 15 84,056,983 (GRCm39) critical splice donor site probably null
R8871:Pnpla3 UTSW 15 84,063,509 (GRCm39) missense probably benign 0.11
R9262:Pnpla3 UTSW 15 84,055,363 (GRCm39) missense probably benign 0.03
X0026:Pnpla3 UTSW 15 84,056,929 (GRCm39) missense probably damaging 1.00
Z1177:Pnpla3 UTSW 15 84,070,278 (GRCm39) missense possibly damaging 0.69
Z1177:Pnpla3 UTSW 15 84,055,465 (GRCm39) missense probably damaging 1.00
Posted On 2014-05-07