Incidental Mutation 'IGL01510:Pnpla3'
ID89200
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pnpla3
Ensembl Gene ENSMUSG00000041653
Gene Namepatatin-like phospholipase domain containing 3
SynonymsAdpn
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01510
Quality Score
Status
Chromosome15
Chromosomal Location84167837-84187236 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) T to A at 84171072 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000043826 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045289]
Predicted Effect probably benign
Transcript: ENSMUST00000045289
SMART Domains Protein: ENSMUSP00000043826
Gene: ENSMUSG00000041653

DomainStartEndE-ValueType
Pfam:Patatin 10 179 4.1e-17 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184924
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca1 T C 4: 53,143,979 Q6R probably damaging Het
Adam5 A T 8: 24,804,465 C373S probably damaging Het
Adgre4 T C 17: 55,818,760 probably null Het
Akap10 A T 11: 61,878,020 M614K possibly damaging Het
Amigo2 T C 15: 97,245,081 T487A probably benign Het
Asap1 T C 15: 64,158,928 D300G probably damaging Het
Atp4a C A 7: 30,720,791 L788M probably benign Het
Bcl3 T A 7: 19,809,614 H309L probably damaging Het
Cblc T C 7: 19,785,275 N376S probably benign Het
Cd200r2 A T 16: 44,909,311 I110L probably benign Het
Ceacam3 T C 7: 17,159,842 M426T probably benign Het
Cep295 G A 9: 15,354,626 R29* probably null Het
Ces1a G T 8: 93,045,098 P24T probably damaging Het
Ctps G T 4: 120,558,844 T194K probably damaging Het
Cul3 A G 1: 80,282,679 S318P probably damaging Het
Fasl A T 1: 161,781,953 S155T possibly damaging Het
Gldc C T 19: 30,113,721 probably null Het
Gpr21 T A 2: 37,518,421 C326* probably null Het
Gtf2a1 A G 12: 91,567,833 S216P probably benign Het
Hoxb5 A T 11: 96,303,992 S127C possibly damaging Het
Htt A T 5: 34,907,512 Q3023L probably damaging Het
Kalrn T A 16: 34,235,330 H855L possibly damaging Het
Lars T C 18: 42,242,109 I289V probably benign Het
Lrig3 C A 10: 126,008,698 T677K probably damaging Het
Mapk7 A T 11: 61,491,160 W309R probably damaging Het
Mmp12 A G 9: 7,358,307 T468A possibly damaging Het
Muc5b A T 7: 141,859,061 N1915Y unknown Het
Naprt A G 15: 75,890,988 probably benign Het
Nfatc1 T C 18: 80,698,188 Y199C probably damaging Het
Olfr857 A T 9: 19,713,279 I151F probably benign Het
Olfr919 T C 9: 38,697,905 I158V probably benign Het
Phip T A 9: 82,913,871 I566F probably benign Het
Ptpn13 C T 5: 103,562,300 T1567I probably damaging Het
Ptpn20 A G 14: 33,638,386 probably null Het
Ptprq G T 10: 107,712,048 T163K probably damaging Het
Slc8a1 A G 17: 81,648,365 C415R probably damaging Het
Slco4c1 A G 1: 96,867,953 S127P probably damaging Het
Tcerg1l A T 7: 138,394,305 probably benign Het
Thbd C T 2: 148,406,974 V325M probably damaging Het
Trim37 G A 11: 87,177,860 R344H probably damaging Het
Ttn T C 2: 76,872,765 probably benign Het
Uvrag G A 7: 99,004,589 Q65* probably null Het
Wrap53 G A 11: 69,562,740 S342L possibly damaging Het
Zbtb11 T G 16: 55,990,343 V288G probably damaging Het
Other mutations in Pnpla3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01969:Pnpla3 APN 15 84179224 missense probably benign
IGL02665:Pnpla3 APN 15 84171205 missense probably benign 0.09
IGL03005:Pnpla3 APN 15 84174268 missense probably damaging 1.00
IGL03037:Pnpla3 APN 15 84172759 missense probably damaging 1.00
R0136:Pnpla3 UTSW 15 84174478 critical splice donor site probably null
R0666:Pnpla3 UTSW 15 84179305 missense probably benign
R1544:Pnpla3 UTSW 15 84181046 missense probably benign 0.36
R4226:Pnpla3 UTSW 15 84179190 missense probably benign 0.02
R4227:Pnpla3 UTSW 15 84179190 missense probably benign 0.02
R6178:Pnpla3 UTSW 15 84180931 missense probably benign 0.32
R6332:Pnpla3 UTSW 15 84172782 critical splice donor site probably null
X0026:Pnpla3 UTSW 15 84172728 missense probably damaging 1.00
Z1177:Pnpla3 UTSW 15 84171264 missense probably damaging 1.00
Z1177:Pnpla3 UTSW 15 84186077 missense possibly damaging 0.69
Posted On2013-12-03