Incidental Mutation 'R0490:Lpl'
ID 43446
Institutional Source Beutler Lab
Gene Symbol Lpl
Ensembl Gene ENSMUSG00000015568
Gene Name lipoprotein lipase
Synonyms O 1-4-5
MMRRC Submission 038688-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0490 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 69333207-69359584 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 69349343 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glycine at position 290 (R290G)
Ref Sequence ENSEMBL: ENSMUSP00000132259 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015712] [ENSMUST00000168401]
AlphaFold P11152
Predicted Effect probably damaging
Transcript: ENSMUST00000015712
AA Change: R290G

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000015712
Gene: ENSMUSG00000015568
AA Change: R290G

DomainStartEndE-ValueType
Pfam:Lipase 19 338 7.8e-133 PFAM
LH2 341 465 2.65e-27 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000168401
AA Change: R290G

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000132259
Gene: ENSMUSG00000015568
AA Change: R290G

DomainStartEndE-ValueType
Pfam:Lipase 19 338 1.1e-117 PFAM
Pfam:Abhydrolase_6 76 264 3e-10 PFAM
LH2 341 465 2.65e-27 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000169749
Meta Mutation Damage Score 0.1451 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 96.2%
  • 20x: 92.2%
Validation Efficiency 100% (60/60)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] LPL encodes lipoprotein lipase, which is expressed in heart, muscle, and adipose tissue. LPL functions as a homodimer, and has the dual functions of triglyceride hydrolase and ligand/bridging factor for receptor-mediated lipoprotein uptake. Severe mutations that cause LPL deficiency result in type I hyperlipoproteinemia, while less extreme mutations in LPL are linked to many disorders of lipoprotein metabolism. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations become cyanotic and die within 2 days of birth due to chylomicron engorgement of capillaries. Mutants show hypertriglyceridemia and reduced fat stores. Heterozygotes show 1.5-2-fold elevated triglyceride levels. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9330159F19Rik T A 10: 29,103,338 (GRCm39) Y640N probably damaging Het
Adamts9 T A 6: 92,849,847 (GRCm39) Q402L probably benign Het
Als2cl A G 9: 110,724,414 (GRCm39) T750A probably benign Het
Ank1 C A 8: 23,597,890 (GRCm39) probably benign Het
Ap4e1 T A 2: 126,888,106 (GRCm39) N404K probably damaging Het
Atf7ip G T 6: 136,586,190 (GRCm39) probably benign Het
Bean1 A T 8: 104,941,660 (GRCm39) T169S possibly damaging Het
Bod1l G T 5: 41,979,235 (GRCm39) T693N probably damaging Het
Ccdc81 A T 7: 89,536,970 (GRCm39) V226D probably benign Het
Cd48 A G 1: 171,532,445 (GRCm39) *241W probably null Het
Cdon C A 9: 35,363,978 (GRCm39) S32Y probably damaging Het
Cers3 A G 7: 66,423,438 (GRCm39) S128G possibly damaging Het
Cntn6 T C 6: 104,810,879 (GRCm39) V641A possibly damaging Het
Col6a4 G A 9: 105,890,969 (GRCm39) T1775I probably damaging Het
Dnah8 T C 17: 30,919,393 (GRCm39) V1122A probably benign Het
Dst G T 1: 34,346,449 (GRCm39) G5102* probably null Het
Dvl3 C T 16: 20,346,173 (GRCm39) probably benign Het
Epha5 G T 5: 84,255,833 (GRCm39) probably benign Het
Fscb G A 12: 64,519,661 (GRCm39) P602S unknown Het
Fxn A G 19: 24,254,543 (GRCm39) probably null Het
Gipc2 A G 3: 151,808,291 (GRCm39) L254P possibly damaging Het
Gm973 C T 1: 59,597,393 (GRCm39) probably benign Het
Gng8 A G 7: 16,628,908 (GRCm39) T14A probably benign Het
Gsdmc3 C T 15: 63,732,099 (GRCm39) G309D possibly damaging Het
Gsr T A 8: 34,161,540 (GRCm39) probably benign Het
Gtdc1 A T 2: 44,525,052 (GRCm39) D152E probably benign Het
Herc1 A G 9: 66,392,281 (GRCm39) D4063G probably damaging Het
Hsdl2 C T 4: 59,612,814 (GRCm39) probably benign Het
Iqgap3 T C 3: 88,021,363 (GRCm39) probably benign Het
Kcnj10 A G 1: 172,197,019 (GRCm39) T178A probably damaging Het
Lama5 T A 2: 179,821,962 (GRCm39) I2958F possibly damaging Het
Lnx1 T A 5: 74,781,008 (GRCm39) probably null Het
Mamdc4 C T 2: 25,453,593 (GRCm39) R1196K probably benign Het
Mogat2 T C 7: 98,872,351 (GRCm39) S167G probably benign Het
Nek8 T A 11: 78,058,555 (GRCm39) I582F probably benign Het
Notch4 T A 17: 34,801,864 (GRCm39) D1237E probably damaging Het
Or2y8 A G 11: 52,035,493 (GRCm39) I288T probably damaging Het
Or5b104 A G 19: 13,072,176 (GRCm39) Y279H probably damaging Het
Or5b119 G A 19: 13,456,857 (GRCm39) A235V probably damaging Het
Or9i14 A G 19: 13,792,219 (GRCm39) L245P probably damaging Het
Pcdhb8 T C 18: 37,489,833 (GRCm39) S504P probably damaging Het
Pigs T C 11: 78,226,451 (GRCm39) S223P probably damaging Het
Prkch A G 12: 73,806,450 (GRCm39) I566V probably damaging Het
Ptpn22 T C 3: 103,793,495 (GRCm39) S549P probably damaging Het
Rita1 A T 5: 120,749,630 (GRCm39) F28I probably damaging Het
Rpgrip1l A T 8: 92,026,473 (GRCm39) probably benign Het
Slc1a1 A G 19: 28,874,931 (GRCm39) K170E probably benign Het
Spag17 C T 3: 99,889,727 (GRCm39) R199W probably damaging Het
Tas2r116 T C 6: 132,832,984 (GRCm39) V195A probably benign Het
Trav7d-3 C A 14: 52,982,007 (GRCm39) probably benign Het
Trim15 T C 17: 37,177,247 (GRCm39) K138E probably benign Het
Ttn T A 2: 76,539,174 (GRCm39) H34604L probably benign Het
Ttn C T 2: 76,577,876 (GRCm39) R16012K probably damaging Het
Zfp948 T C 17: 21,808,296 (GRCm39) V496A probably benign Het
Zfy2 A T Y: 2,106,620 (GRCm39) S671R possibly damaging Het
Zswim1 T A 2: 164,667,203 (GRCm39) Y152N possibly damaging Het
Other mutations in Lpl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00806:Lpl APN 8 69,355,018 (GRCm39) missense probably benign 0.00
IGL01161:Lpl APN 8 69,345,277 (GRCm39) nonsense probably null
IGL01370:Lpl APN 8 69,340,220 (GRCm39) missense possibly damaging 0.92
IGL01420:Lpl APN 8 69,340,085 (GRCm39) splice site probably benign
IGL02034:Lpl APN 8 69,333,424 (GRCm39) missense possibly damaging 0.64
IGL02227:Lpl APN 8 69,348,452 (GRCm39) missense probably damaging 0.99
IGL02949:Lpl APN 8 69,345,400 (GRCm39) missense probably damaging 1.00
IGL03237:Lpl APN 8 69,347,378 (GRCm39) missense possibly damaging 0.90
Bensadoun UTSW 8 69,349,459 (GRCm39) missense probably benign 0.03
R0064:Lpl UTSW 8 69,345,356 (GRCm39) missense probably damaging 1.00
R0064:Lpl UTSW 8 69,345,356 (GRCm39) missense probably damaging 1.00
R1252:Lpl UTSW 8 69,345,311 (GRCm39) missense probably benign 0.03
R1331:Lpl UTSW 8 69,349,281 (GRCm39) missense probably damaging 0.99
R1376:Lpl UTSW 8 69,340,250 (GRCm39) missense probably damaging 1.00
R1376:Lpl UTSW 8 69,340,250 (GRCm39) missense probably damaging 1.00
R1444:Lpl UTSW 8 69,345,399 (GRCm39) missense probably damaging 0.99
R1722:Lpl UTSW 8 69,349,254 (GRCm39) frame shift probably null
R1826:Lpl UTSW 8 69,354,943 (GRCm39) missense possibly damaging 0.62
R1867:Lpl UTSW 8 69,349,254 (GRCm39) frame shift probably null
R1874:Lpl UTSW 8 69,349,271 (GRCm39) missense probably damaging 1.00
R1970:Lpl UTSW 8 69,349,454 (GRCm39) nonsense probably null
R2401:Lpl UTSW 8 69,353,895 (GRCm39) missense possibly damaging 0.52
R2516:Lpl UTSW 8 69,340,170 (GRCm39) missense probably benign 0.00
R2850:Lpl UTSW 8 69,352,164 (GRCm39) nonsense probably null
R4688:Lpl UTSW 8 69,352,077 (GRCm39) missense probably damaging 1.00
R4773:Lpl UTSW 8 69,349,403 (GRCm39) missense probably damaging 1.00
R4962:Lpl UTSW 8 69,347,345 (GRCm39) missense probably damaging 1.00
R4993:Lpl UTSW 8 69,348,445 (GRCm39) missense probably benign 0.23
R5343:Lpl UTSW 8 69,348,389 (GRCm39) missense probably damaging 1.00
R6018:Lpl UTSW 8 69,353,940 (GRCm39) missense probably benign
R6082:Lpl UTSW 8 69,349,301 (GRCm39) missense probably damaging 0.98
R6137:Lpl UTSW 8 69,345,399 (GRCm39) missense probably damaging 0.99
R6589:Lpl UTSW 8 69,349,459 (GRCm39) missense probably benign 0.03
R7730:Lpl UTSW 8 69,340,100 (GRCm39) nonsense probably null
R8214:Lpl UTSW 8 69,345,257 (GRCm39) missense probably damaging 1.00
R8274:Lpl UTSW 8 69,345,250 (GRCm39) missense possibly damaging 0.94
R8353:Lpl UTSW 8 69,348,433 (GRCm39) missense probably damaging 1.00
R8453:Lpl UTSW 8 69,348,433 (GRCm39) missense probably damaging 1.00
R8805:Lpl UTSW 8 69,340,215 (GRCm39) missense probably damaging 1.00
R8807:Lpl UTSW 8 69,345,280 (GRCm39) missense probably damaging 1.00
R9323:Lpl UTSW 8 69,340,196 (GRCm39) missense possibly damaging 0.90
R9395:Lpl UTSW 8 69,353,952 (GRCm39) missense probably damaging 0.99
R9568:Lpl UTSW 8 69,340,235 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- GGGAAACAACTTCTCCCTCAGGTG -3'
(R):5'- GGCCCATGATAACAGAGATGGCAC -3'

Sequencing Primer
(F):5'- GGGCCAAAAGTTCTTGTCAAC -3'
(R):5'- GAGATGGCACTAAGCAATTTCC -3'
Posted On 2013-05-23