Incidental Mutation 'R1722:Lpl'
ID 191553
Institutional Source Beutler Lab
Gene Symbol Lpl
Ensembl Gene ENSMUSG00000015568
Gene Name lipoprotein lipase
Synonyms O 1-4-5
MMRRC Submission 039754-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1722 (G1)
Quality Score 186
Status Not validated
Chromosome 8
Chromosomal Location 69333207-69359584 bp(+) (GRCm39)
Type of Mutation frame shift
DNA Base Change (assembly) TGG to TG at 69349254 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000132259 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015712] [ENSMUST00000168401]
AlphaFold P11152
Predicted Effect probably null
Transcript: ENSMUST00000015712
SMART Domains Protein: ENSMUSP00000015712
Gene: ENSMUSG00000015568

DomainStartEndE-ValueType
Pfam:Lipase 19 338 7.8e-133 PFAM
LH2 341 465 2.65e-27 SMART
Predicted Effect probably null
Transcript: ENSMUST00000168401
SMART Domains Protein: ENSMUSP00000132259
Gene: ENSMUSG00000015568

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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.3%
Validation Efficiency
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931422A03Rik A T 2: 103,824,273 (GRCm39) probably null Het
Adss1 A T 12: 112,602,915 (GRCm39) I346F possibly damaging Het
Ahnak T A 19: 8,988,019 (GRCm39) L3101H probably damaging Het
Aldh3b3 A G 19: 4,014,871 (GRCm39) I123V possibly damaging Het
Angptl1 C T 1: 156,684,655 (GRCm39) P275S possibly damaging Het
Apoa5 C T 9: 46,181,847 (GRCm39) Q308* probably null Het
Arhgef12 T C 9: 42,932,013 (GRCm39) *106W probably null Het
Atp2c1 A G 9: 105,316,599 (GRCm39) Y485H probably benign Het
Atp6v1b1 C T 6: 83,720,074 (GRCm39) T3I possibly damaging Het
Btbd7 A T 12: 102,778,913 (GRCm39) I451N possibly damaging Het
Clasp1 T G 1: 118,518,194 (GRCm39) L1080R probably damaging Het
Clec4f A G 6: 83,623,915 (GRCm39) V408A probably benign Het
Clint1 T A 11: 45,797,233 (GRCm39) M438K possibly damaging Het
Cuzd1 A T 7: 130,913,373 (GRCm39) Y415N probably damaging Het
Ddias A G 7: 92,509,250 (GRCm39) F222L possibly damaging Het
Efcab7 A T 4: 99,757,815 (GRCm39) T321S probably benign Het
Elp3 A T 14: 65,788,846 (GRCm39) D393E probably benign Het
Fbn2 T C 18: 58,181,124 (GRCm39) probably null Het
Fcgr3 T C 1: 170,881,688 (GRCm39) R146G possibly damaging Het
Fkrp G A 7: 16,544,719 (GRCm39) A381V probably benign Het
Gatad2b T G 3: 90,262,986 (GRCm39) I476S probably damaging Het
Gm1527 C T 3: 28,975,783 (GRCm39) H557Y probably benign Het
Gm2431 A T 7: 141,811,599 (GRCm39) C102S unknown Het
Hoxd13 A G 2: 74,500,389 (GRCm39) N310S probably benign Het
Il9 T A 13: 56,627,208 (GRCm39) T135S probably benign Het
Ints4 A C 7: 97,162,786 (GRCm39) N476T probably benign Het
Kcnq4 A C 4: 120,559,624 (GRCm39) D525E probably benign Het
Kncn A T 4: 115,743,096 (GRCm39) Y57F probably damaging Het
Lrrfip2 A G 9: 111,028,829 (GRCm39) T351A probably damaging Het
Madd T C 2: 90,997,982 (GRCm39) E682G probably benign Het
Marchf7 A C 2: 60,064,526 (GRCm39) R267S probably damaging Het
Mmp16 T A 4: 18,051,767 (GRCm39) L252Q probably damaging Het
Mri1 A T 8: 84,980,554 (GRCm39) V296D possibly damaging Het
Myo3a A G 2: 22,404,638 (GRCm39) T665A probably benign Het
N4bp2 T C 5: 65,964,225 (GRCm39) V758A probably benign Het
Nbea T C 3: 55,573,116 (GRCm39) D2489G probably damaging Het
Neb T C 2: 52,146,757 (GRCm39) T2836A probably damaging Het
Nedd4l T A 18: 65,291,010 (GRCm39) V203E probably damaging Het
Nkpd1 C A 7: 19,257,846 (GRCm39) Q392K possibly damaging Het
Nploc4 G T 11: 120,273,395 (GRCm39) A576E probably benign Het
Nxph1 T A 6: 9,247,516 (GRCm39) N162K probably damaging Het
Or3a1 T C 11: 74,225,271 (GRCm39) Y262C probably damaging Het
Or7c70 T A 10: 78,682,805 (GRCm39) T315S probably benign Het
Pabpc2 T G 18: 39,908,169 (GRCm39) I478S probably benign Het
Pde7b G T 10: 20,311,990 (GRCm39) H190Q probably damaging Het
Plekha2 A T 8: 25,532,976 (GRCm39) S332T probably benign Het
Rapgef6 TG TGG 11: 54,437,223 (GRCm39) probably null Het
Rasl11a A T 5: 146,782,052 (GRCm39) H9L probably benign Het
Rer1 A T 4: 155,159,458 (GRCm39) F177I probably damaging Het
Rinl T C 7: 28,491,669 (GRCm39) L74P probably damaging Het
Rsf1 CG CGACGGCGGTG 7: 97,229,115 (GRCm39) probably benign Het
Rttn T C 18: 88,991,655 (GRCm39) V78A probably benign Het
Skint5 A T 4: 113,703,508 (GRCm39) probably null Het
Tenm2 A C 11: 35,898,930 (GRCm39) Y2743D probably damaging Het
Tmem101 T C 11: 102,045,519 (GRCm39) Y110C probably damaging Het
Trim9 T C 12: 70,295,148 (GRCm39) N658S probably benign Het
Ucp1 A T 8: 84,017,317 (GRCm39) T36S probably benign Het
Vmn2r43 A G 7: 8,258,067 (GRCm39) I382T probably damaging Het
Zfp142 C T 1: 74,608,935 (GRCm39) R1620Q probably damaging Het
Zfp386 T C 12: 116,023,526 (GRCm39) S380P probably 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
R0490:Lpl UTSW 8 69,349,343 (GRCm39) missense probably damaging 0.98
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
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'- TCCATAAATATAAAATGGCAGGGGC -3'
(R):5'- AGCGAGTCTTCAGGTACATC -3'
Posted On 2014-05-14