Incidental Mutation 'R2145:Pnlip'
ID 233787
Institutional Source Beutler Lab
Gene Symbol Pnlip
Ensembl Gene ENSMUSG00000046008
Gene Name pancreatic lipase
Synonyms 1810007A24Rik, PTL, pancreatic triglyceride lipase
MMRRC Submission 040148-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.080) question?
Stock # R2145 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 58658797-58670231 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 58664876 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 235 (S235G)
Ref Sequence ENSEMBL: ENSMUSP00000056377 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057270]
AlphaFold Q6P8U6
Predicted Effect probably benign
Transcript: ENSMUST00000057270
AA Change: S235G

PolyPhen 2 Score 0.110 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000056377
Gene: ENSMUSG00000046008
AA Change: S235G

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
Pfam:Lipase 17 352 2.4e-164 PFAM
LH2 355 465 4.47e-25 SMART
Meta Mutation Damage Score 0.2057 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.6%
Validation Efficiency 97% (101/104)
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: 104 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca15 A G 7: 119,953,701 (GRCm39) N535S probably benign Het
Abcc6 A T 7: 45,648,165 (GRCm39) L717Q probably benign Het
Abraxas2 C A 7: 132,484,790 (GRCm39) Q278K probably benign Het
Acap2 A T 16: 30,924,342 (GRCm39) D637E probably benign Het
AI661453 A G 17: 47,777,023 (GRCm39) probably benign Het
Aoah A T 13: 21,024,266 (GRCm39) E74V probably damaging Het
Aoc1l1 A T 6: 48,953,629 (GRCm39) D518V probably damaging Het
Appl1 A G 14: 26,671,576 (GRCm39) L292S possibly damaging Het
Astl T A 2: 127,189,109 (GRCm39) V166E probably damaging Het
Bbs1 T G 19: 4,953,735 (GRCm39) K143Q possibly damaging Het
Bbx T C 16: 50,094,907 (GRCm39) probably benign Het
Birc6 A T 17: 74,967,408 (GRCm39) Q4103L possibly damaging Het
C1qtnf2 T G 11: 43,381,811 (GRCm39) F178V probably damaging Het
Camta2 A G 11: 70,562,401 (GRCm39) F999L probably benign Het
Cfap68 T C 9: 50,676,174 (GRCm39) Y32C probably damaging Het
Clcn7 A G 17: 25,363,425 (GRCm39) I34V probably benign Het
Cntn5 G T 9: 9,748,420 (GRCm39) P487Q probably damaging Het
Ctu2 T A 8: 123,205,891 (GRCm39) I213K probably benign Het
Des C A 1: 75,340,108 (GRCm39) probably benign Het
Dgcr8 A T 16: 18,098,094 (GRCm39) D432E probably benign Het
Dlgap5 G A 14: 47,633,380 (GRCm39) R549* probably null Het
Dmac2l A G 12: 69,787,828 (GRCm39) Q88R probably damaging Het
Dmxl2 T C 9: 54,323,194 (GRCm39) T1397A probably damaging Het
Dnmt1 T A 9: 20,848,451 (GRCm39) probably benign Het
Dstyk T A 1: 132,391,113 (GRCm39) M838K probably damaging Het
Dtwd1 C A 2: 126,001,904 (GRCm39) T208N probably damaging Het
Dvl1 G A 4: 155,932,273 (GRCm39) V28I possibly damaging Het
Dync1i2 T A 2: 71,044,907 (GRCm39) probably benign Het
Fer1l6 T A 15: 58,499,383 (GRCm39) M1251K probably benign Het
Fmod T C 1: 133,968,256 (GRCm39) Y99H probably benign Het
Fn1 A T 1: 71,645,163 (GRCm39) V1552D probably damaging Het
Fnip2 A T 3: 79,407,739 (GRCm39) S281T probably damaging Het
Glb1 A G 9: 114,293,233 (GRCm39) H536R probably benign Het
Glis2 T A 16: 4,431,506 (GRCm39) S344R possibly damaging Het
Gm4847 A T 1: 166,462,472 (GRCm39) S339R probably benign Het
Gpr155 A G 2: 73,187,002 (GRCm39) S44P probably benign Het
Gprin1 G A 13: 54,886,445 (GRCm39) P610S probably damaging Het
Gvin3 T A 7: 106,202,215 (GRCm39) H343L possibly damaging Het
H2-Ob A T 17: 34,461,554 (GRCm39) M98L probably benign Het
H3c6 T C 13: 23,746,530 (GRCm39) T4A probably benign Het
Hmcn2 T C 2: 31,223,943 (GRCm39) probably benign Het
Ikbke C A 1: 131,201,211 (GRCm39) V176L probably damaging Het
Il13 T C 11: 53,523,351 (GRCm39) T85A possibly damaging Het
Inpp5k A T 11: 75,538,017 (GRCm39) probably null Het
Irgm2 T C 11: 58,111,355 (GRCm39) S361P possibly damaging Het
Itga11 C T 9: 62,639,486 (GRCm39) probably benign Het
Kalrn G T 16: 33,829,632 (GRCm39) probably benign Het
Kcng1 C A 2: 168,110,952 (GRCm39) G71C probably damaging Het
Kcnq5 T A 1: 21,575,573 (GRCm39) D291V probably damaging Het
Klhl7 A T 5: 24,305,861 (GRCm39) M37L probably benign Het
Letm1 A AG 5: 33,926,859 (GRCm39) probably null Het
Lhx6 C T 2: 35,977,478 (GRCm39) V325I probably benign Het
Lipc A G 9: 70,841,817 (GRCm39) I9T possibly damaging Het
Lsmem1 GTACATACATACATACATACATACATACA GTACATACATACATACATACATACATACATACA 12: 40,235,260 (GRCm39) probably null Het
Mast1 C A 8: 85,648,107 (GRCm39) G458V probably damaging Het
Mga T C 2: 119,794,638 (GRCm39) V2565A possibly damaging Het
Mpzl2 C G 9: 44,955,471 (GRCm39) D127E probably benign Het
Mrtfb T C 16: 13,230,450 (GRCm39) I1045T probably damaging Het
Myh3 T A 11: 66,981,882 (GRCm39) C793S probably benign Het
Nomo1 T C 7: 45,715,928 (GRCm39) L765P probably damaging Het
Nup210 A G 6: 91,005,858 (GRCm39) I1335T possibly damaging Het
Or52b3 T C 7: 102,204,267 (GRCm39) probably null Het
Oxr1 T A 15: 41,683,340 (GRCm39) S254R probably damaging Het
Pan3 A G 5: 147,466,908 (GRCm39) I592V possibly damaging Het
Pask C T 1: 93,249,019 (GRCm39) A794T probably benign Het
Pex2 T C 3: 5,626,650 (GRCm39) E53G probably damaging Het
Pfkfb2 T C 1: 130,626,460 (GRCm39) T438A probably benign Het
Phactr4 T C 4: 132,098,095 (GRCm39) E391G probably damaging Het
Pira2 A T 7: 3,847,344 (GRCm39) L115Q probably damaging Het
Pkhd1l1 A T 15: 44,376,273 (GRCm39) probably null Het
Prkd1 A G 12: 50,536,694 (GRCm39) V130A possibly damaging Het
Ptpn13 A G 5: 103,703,999 (GRCm39) T1344A probably benign Het
Ptprc T C 1: 138,001,419 (GRCm39) Y780C probably damaging Het
Pxn T A 5: 115,690,815 (GRCm39) probably benign Het
Rap1gap2 G A 11: 74,316,802 (GRCm39) T245M probably damaging Het
Rc3h1 G T 1: 160,757,827 (GRCm39) K48N probably damaging Het
Rfwd3 T C 8: 112,009,245 (GRCm39) I444V probably benign Het
Rictor C T 15: 6,794,588 (GRCm39) R293C probably damaging Het
Rif1 T A 2: 52,001,412 (GRCm39) I1622N possibly damaging Het
Rnf213 T C 11: 119,306,019 (GRCm39) V609A probably benign Het
Scgb1b2 G T 7: 30,991,188 (GRCm39) probably benign Het
Serac1 A T 17: 6,101,060 (GRCm39) I448N probably damaging Het
Sh3kbp1 C A X: 158,607,492 (GRCm39) T200K probably benign Het
Sned1 T A 1: 93,199,406 (GRCm39) F495L probably damaging Het
Socs7 T C 11: 97,263,950 (GRCm39) F281L probably benign Het
Spta1 C T 1: 174,040,180 (GRCm39) L1214F probably benign Het
Ssu72 A G 4: 155,789,900 (GRCm39) E21G probably damaging Het
Syngr4 A G 7: 45,536,464 (GRCm39) V186A probably benign Het
Tars3 G A 7: 65,305,539 (GRCm39) M254I possibly damaging Het
Tmem130 C A 5: 144,680,595 (GRCm39) V270L probably benign Het
Trim66 A T 7: 109,074,320 (GRCm39) I647N probably damaging Het
Tspyl2 A T X: 151,121,890 (GRCm39) D572E probably benign Het
Unc45b G A 11: 82,808,580 (GRCm39) R222H probably benign Het
Uxs1 T C 1: 43,866,783 (GRCm39) Y29C probably damaging Het
Virma T A 4: 11,548,726 (GRCm39) probably benign Het
Vmn1r202 C T 13: 22,685,953 (GRCm39) G155S possibly damaging Het
Vmn2r24 T A 6: 123,755,972 (GRCm39) F15I probably benign Het
Wdr64 A G 1: 175,594,661 (GRCm39) T471A probably benign Het
Zfa-ps T A 10: 52,419,373 (GRCm39) noncoding transcript Het
Zfp260 A G 7: 29,804,765 (GRCm39) K222E probably damaging Het
Zfp300 A G X: 20,948,190 (GRCm39) S525P possibly damaging Het
Zfp821 A G 8: 110,450,979 (GRCm39) D324G probably damaging Het
Zfp934 T C 13: 62,665,648 (GRCm39) D331G probably damaging Het
Zscan29 T C 2: 121,000,587 (GRCm39) R7G probably damaging Het
Other mutations in Pnlip
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02257:Pnlip APN 19 58,662,306 (GRCm39) missense probably benign 0.00
IGL02733:Pnlip APN 19 58,669,220 (GRCm39) missense probably benign
R1121:Pnlip UTSW 19 58,669,340 (GRCm39) splice site probably null
R2213:Pnlip UTSW 19 58,662,202 (GRCm39) missense probably benign 0.07
R3405:Pnlip UTSW 19 58,669,191 (GRCm39) missense probably benign
R4703:Pnlip UTSW 19 58,664,899 (GRCm39) missense probably damaging 1.00
R4731:Pnlip UTSW 19 58,664,919 (GRCm39) missense probably benign 0.00
R4909:Pnlip UTSW 19 58,664,672 (GRCm39) missense possibly damaging 0.85
R5386:Pnlip UTSW 19 58,668,039 (GRCm39) missense probably benign 0.25
R5444:Pnlip UTSW 19 58,661,595 (GRCm39) missense probably benign 0.00
R5851:Pnlip UTSW 19 58,662,224 (GRCm39) nonsense probably null
R6515:Pnlip UTSW 19 58,661,547 (GRCm39) missense probably damaging 1.00
R6605:Pnlip UTSW 19 58,660,174 (GRCm39) missense probably benign 0.20
R6974:Pnlip UTSW 19 58,668,067 (GRCm39) critical splice donor site probably null
R7057:Pnlip UTSW 19 58,664,695 (GRCm39) missense probably damaging 1.00
R7312:Pnlip UTSW 19 58,670,134 (GRCm39) missense probably damaging 0.97
R7358:Pnlip UTSW 19 58,664,976 (GRCm39) missense probably damaging 1.00
R7476:Pnlip UTSW 19 58,668,066 (GRCm39) critical splice donor site probably null
R7674:Pnlip UTSW 19 58,663,586 (GRCm39) missense possibly damaging 0.70
R7800:Pnlip UTSW 19 58,670,134 (GRCm39) missense probably benign 0.18
R7983:Pnlip UTSW 19 58,668,491 (GRCm39) missense probably benign 0.04
R9252:Pnlip UTSW 19 58,669,273 (GRCm39) missense possibly damaging 0.94
R9425:Pnlip UTSW 19 58,669,290 (GRCm39) nonsense probably null
X0025:Pnlip UTSW 19 58,669,242 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- CCGATGCTCAGTTTGTGGAC -3'
(R):5'- ACAACGGAACTTATGTTTCAGGG -3'

Sequencing Primer
(F):5'- GTTTGTGGACGCAATTCACACAG -3'
(R):5'- GCATCCTGGCATTTCGAT -3'
Posted On 2014-10-01