Incidental Mutation 'IGL03005:Pnpla3'
ID 407522
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 # IGL03005
Quality Score
Status
Chromosome 15
Chromosomal Location 84052038-84071437 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 84058469 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Tryptophan at position 163 (R163W)
Ref Sequence ENSEMBL: ENSMUSP00000043826 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045289]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000045289
AA Change: R163W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000043826
Gene: ENSMUSG00000041653
AA Change: R163W

DomainStartEndE-ValueType
Pfam:Patatin 10 179 4.1e-17 PFAM
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akt3 A T 1: 176,894,793 (GRCm39) V268E probably damaging Het
Aoc1l1 T A 6: 48,953,480 (GRCm39) Y468* probably null Het
Apob A G 12: 8,043,059 (GRCm39) probably benign Het
Arhgap19 T C 19: 41,772,856 (GRCm39) probably benign Het
C2cd2 A G 16: 97,660,632 (GRCm39) L672P probably damaging Het
Cars1 A G 7: 143,112,906 (GRCm39) F774L probably damaging Het
Cd200r3 T A 16: 44,773,973 (GRCm39) S128R probably damaging Het
Chd9 A G 8: 91,738,075 (GRCm39) N1569S probably damaging Het
Chmp7 G A 14: 69,957,277 (GRCm39) R294C probably damaging Het
Col10a1 A T 10: 34,271,734 (GRCm39) I569F probably damaging Het
Cspg4 T A 9: 56,795,772 (GRCm39) V1169D probably damaging Het
Emg1 G A 6: 124,681,557 (GRCm39) T229I probably damaging Het
Fmo9 C T 1: 166,502,088 (GRCm39) S179N probably benign Het
Frem1 T C 4: 82,912,371 (GRCm39) Y667C probably damaging Het
Gpsm2 A G 3: 108,594,322 (GRCm39) probably benign Het
Gsdma A T 11: 98,567,085 (GRCm39) E395V probably damaging Het
Gsdmd C T 15: 75,739,015 (GRCm39) T464M possibly damaging Het
Iqschfp C A 3: 68,526,010 (GRCm39) Q395K possibly damaging Het
Lipo3 T C 19: 33,763,136 (GRCm39) I36V possibly damaging Het
Lrrtm1 A G 6: 77,221,139 (GRCm39) S199G probably damaging Het
Lypla1 C T 1: 4,902,613 (GRCm39) probably benign Het
Mst1r C T 9: 107,791,748 (GRCm39) Q809* probably null Het
Mtr T A 13: 12,250,335 (GRCm39) probably benign Het
Or4a39 G A 2: 89,237,315 (GRCm39) T36I possibly damaging Het
Pax7 T A 4: 139,556,007 (GRCm39) I156F probably damaging Het
Pcdhb8 T A 18: 37,490,587 (GRCm39) L755Q probably damaging Het
Pdzd2 G A 15: 12,385,351 (GRCm39) P1140S probably damaging Het
Pdzrn4 T C 15: 92,668,272 (GRCm39) L808P probably damaging Het
Pex1 G T 5: 3,680,292 (GRCm39) Q971H probably null Het
Pgap6 C T 17: 26,337,911 (GRCm39) L432F probably benign Het
Pld1 T A 3: 28,141,402 (GRCm39) V655E possibly damaging Het
Rabgef1 T C 5: 130,237,638 (GRCm39) L237P probably damaging Het
Setbp1 A T 18: 78,902,340 (GRCm39) N442K possibly damaging Het
Sorl1 T G 9: 41,968,621 (GRCm39) D544A probably damaging Het
Spire2 C A 8: 124,090,107 (GRCm39) P490T probably benign Het
Zeb1 T A 18: 5,767,150 (GRCm39) S554T probably benign Het
Other mutations in Pnpla3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01510:Pnpla3 APN 15 84,055,273 (GRCm39) splice site probably benign
IGL01969:Pnpla3 APN 15 84,063,425 (GRCm39) missense probably benign
IGL02665:Pnpla3 APN 15 84,055,406 (GRCm39) missense probably benign 0.09
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 2016-08-02