Incidental Mutation 'IGL02257:Pnlip'
ID286624
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pnlip
Ensembl Gene ENSMUSG00000046008
Gene Namepancreatic lipase
Synonymspancreatic triglyceride lipase, PTL, 1810007A24Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.163) question?
Stock #IGL02257
Quality Score
Status
Chromosome19
Chromosomal Location58670365-58681786 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 58673874 bp
ZygosityHeterozygous
Amino Acid Change Valine to Isoleucine at position 151 (V151I)
Ref Sequence ENSEMBL: ENSMUSP00000056377 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057270]
Predicted Effect probably benign
Transcript: ENSMUST00000057270
AA Change: V151I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000056377
Gene: ENSMUSG00000046008
AA Change: V151I

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
Pfam:Lipase 17 352 2.4e-164 PFAM
LH2 355 465 4.47e-25 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the lipase family of proteins. The encoded enzyme is secreted by the pancreas and hydrolyzes triglycerides in the small intestine, and is essential for the efficient digestion of dietary fats. Inhibition of the encoded enzyme may prevent high-fat diet-induced obesity in mice and result in weight loss in human patients with obesity. Mutations in this gene cause congenital pancreatic lipase deficiency, a rare disorder characterized by steatorrhea. [provided by RefSeq, Jul 2016]
PHENOTYPE: Homozygous null mice show impaired dietary cholesterol, triglyceride and retinyl ester absorption, resistance to diet-induced obesity, and insulin resistance. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aanat C T 11: 116,595,709 Q25* probably null Het
Adam8 A T 7: 139,987,648 V394D possibly damaging Het
Ahnak2 A G 12: 112,785,285 F314S possibly damaging Het
Arsg T C 11: 109,521,647 probably benign Het
Atp13a2 T G 4: 141,006,089 V958G probably benign Het
BC003331 A T 1: 150,386,404 I95N probably damaging Het
Ces5a T C 8: 93,525,598 D218G probably benign Het
Cntnap4 T A 8: 112,616,494 L63Q probably damaging Het
Cped1 A G 6: 22,145,607 T655A possibly damaging Het
Ddc A T 11: 11,873,171 L133* probably null Het
Fat4 C T 3: 39,001,139 A4169V probably benign Het
Gnpat T C 8: 124,886,848 probably benign Het
Gpd2 A G 2: 57,364,524 D678G probably benign Het
Hk1 T C 10: 62,271,643 D851G probably benign Het
Hsd11b2 G A 8: 105,523,222 V322I probably benign Het
Hsd17b3 G A 13: 64,059,462 T255M probably benign Het
Hsp90b1 T C 10: 86,698,589 S284G probably damaging Het
Med1 T A 11: 98,180,270 I69L probably damaging Het
Morn3 T G 5: 123,037,725 D200A probably damaging Het
Mtss1 A G 15: 58,956,545 V173A probably damaging Het
Mut C T 17: 40,938,734 T200I possibly damaging Het
Myl6b T C 10: 128,497,341 probably benign Het
Nin A G 12: 70,102,691 V48A possibly damaging Het
Olfr134 G T 17: 38,175,686 V201L probably benign Het
Olfr1490 G A 19: 13,655,265 V279I probably benign Het
Phlpp2 T A 8: 109,920,099 V529E possibly damaging Het
Pus7 A C 5: 23,762,461 H247Q probably damaging Het
Setd6 T C 8: 95,716,692 Y188H probably damaging Het
Siglecg T C 7: 43,411,904 S444P probably benign Het
Sox9 C A 11: 112,784,985 H333Q possibly damaging Het
Specc1 T A 11: 62,118,417 I333N probably damaging Het
Tmprss11e G A 5: 86,724,180 T59I probably damaging Het
Vmn2r93 A C 17: 18,325,508 probably benign Het
Vrk2 A T 11: 26,534,266 V163D probably damaging Het
Other mutations in Pnlip
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02733:Pnlip APN 19 58680788 missense probably benign
R1121:Pnlip UTSW 19 58680908 splice site probably null
R2145:Pnlip UTSW 19 58676444 missense probably benign 0.11
R2213:Pnlip UTSW 19 58673770 missense probably benign 0.07
R3405:Pnlip UTSW 19 58680759 missense probably benign
R4703:Pnlip UTSW 19 58676467 missense probably damaging 1.00
R4731:Pnlip UTSW 19 58676487 missense probably benign 0.00
R4909:Pnlip UTSW 19 58676240 missense possibly damaging 0.85
R5386:Pnlip UTSW 19 58679607 missense probably benign 0.25
R5444:Pnlip UTSW 19 58673163 missense probably benign 0.00
R5851:Pnlip UTSW 19 58673792 nonsense probably null
R6515:Pnlip UTSW 19 58673115 missense probably damaging 1.00
R6605:Pnlip UTSW 19 58671742 missense probably benign 0.20
R6974:Pnlip UTSW 19 58679635 critical splice donor site probably null
R7057:Pnlip UTSW 19 58676263 missense probably damaging 1.00
R7312:Pnlip UTSW 19 58681702 missense probably damaging 0.97
R7358:Pnlip UTSW 19 58676544 missense probably damaging 1.00
R7476:Pnlip UTSW 19 58679634 critical splice donor site probably null
R7674:Pnlip UTSW 19 58675154 missense possibly damaging 0.70
R7800:Pnlip UTSW 19 58681702 missense probably benign 0.18
X0025:Pnlip UTSW 19 58680810 nonsense probably null
Posted On2015-04-16