Incidental Mutation 'IGL01969:Pnpla3'
ID181635
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 #IGL01969
Quality Score
Status
Chromosome15
Chromosomal Location84167837-84187236 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 84179224 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Threonine at position 268 (A268T)
Ref Sequence ENSEMBL: ENSMUSP00000043826 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045289]
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: 123,480,431 P74H probably damaging Het
Aire T A 10: 78,042,982 D77V probably damaging Het
Ank2 T A 3: 126,953,223 H571L possibly damaging Het
Apol10b T C 15: 77,588,685 probably null Het
Cacna2d2 A T 9: 107,509,216 M181L probably benign Het
Ccnl1 T C 3: 65,948,487 probably benign Het
Chd9 A G 8: 91,033,510 E1961G possibly damaging Het
Dnajc12 C A 10: 63,395,830 H42N probably damaging Het
Eml4 T C 17: 83,445,980 V248A possibly damaging Het
Epha10 A C 4: 124,885,877 K172T probably damaging Het
Fat1 T C 8: 44,952,599 Y796H probably damaging Het
Gpr176 A C 2: 118,279,637 F380L probably damaging Het
Guca1a A T 17: 47,400,343 M26K probably damaging Het
Gucy2g T G 19: 55,227,438 M501L probably benign Het
Herc2 T C 7: 56,185,831 probably benign Het
Itgav A G 2: 83,803,283 E1028G probably damaging Het
Itpr1 A G 6: 108,377,691 T179A probably damaging Het
Lpin2 A G 17: 71,231,507 T383A probably benign Het
Midn A G 10: 80,155,259 T325A probably benign Het
Mpdz A G 4: 81,358,724 Y788H probably damaging Het
Muc1 A T 3: 89,232,006 D571V probably damaging Het
Myo3a A T 2: 22,297,688 H316L probably benign Het
Nagpa T C 16: 5,195,889 K362E probably benign Het
Ola1 G A 2: 73,100,146 A266V probably benign Het
Olfr1256 A G 2: 89,835,720 I75T probably benign Het
Olfr1447 C A 19: 12,901,052 A243S possibly damaging Het
Olfr393 T C 11: 73,847,609 N172S possibly damaging Het
Otof A G 5: 30,382,483 probably benign Het
Pi4ka A C 16: 17,378,483 V105G probably benign Het
Plppr4 G T 3: 117,328,359 T190K probably damaging Het
Ppp6r2 C T 15: 89,275,510 H467Y probably damaging Het
Prkd2 C T 7: 16,865,757 T715M probably damaging Het
Rusc2 A G 4: 43,415,738 N348S probably benign Het
Ska3 A G 14: 57,811,662 V284A probably benign Het
Slc23a1 A T 18: 35,624,754 V199D possibly damaging Het
Slc6a13 T C 6: 121,335,642 L445P probably damaging Het
Smo A T 6: 29,755,172 probably null Het
Tmem131 A G 1: 36,825,460 L564S possibly damaging Het
Ttc23l G A 15: 10,551,434 Q69* probably null Het
Other mutations in Pnpla3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01510:Pnpla3 APN 15 84171072 splice site 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 On2014-05-07