Incidental Mutation 'R5710:Lipc'
ID 452173
Institutional Source Beutler Lab
Gene Symbol Lipc
Ensembl Gene ENSMUSG00000032207
Gene Name lipase, hepatic
Synonyms HL, Hpl
MMRRC Submission 044396-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.104) question?
Stock # R5710 (G1)
Quality Score 123
Status Not validated
Chromosome 9
Chromosomal Location 70705410-70859503 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 70719979 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 343 (I343F)
Ref Sequence ENSEMBL: ENSMUSP00000034731 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034731] [ENSMUST00000216798]
AlphaFold P27656
Predicted Effect probably benign
Transcript: ENSMUST00000034731
AA Change: I343F

PolyPhen 2 Score 0.300 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000034731
Gene: ENSMUSG00000032207
AA Change: I343F

DomainStartEndE-ValueType
Pfam:Lipase 14 350 1.1e-136 PFAM
LH2 353 488 4.62e-18 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000216798
AA Change: I258F

PolyPhen 2 Score 0.255 (Sensitivity: 0.91; Specificity: 0.88)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] LIPC encodes hepatic triglyceride lipase, which is expressed in liver. LIPC has the dual functions of triglyceride hydrolase and ligand/bridging factor for receptor-mediated lipoprotein uptake. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit elevated plasma total cholesterol, phospholipids, and high density lipoprotein cholesterol. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam28 G A 14: 68,847,357 (GRCm39) H713Y probably damaging Het
Adam39 A T 8: 41,277,684 (GRCm39) Y25F probably benign Het
Ankfn1 T C 11: 89,394,751 (GRCm39) N278S probably benign Het
Aqp7 G A 4: 41,035,510 (GRCm39) T115I probably benign Het
Arhgap18 G A 10: 26,736,729 (GRCm39) probably null Het
Bcl2a1b A C 9: 89,081,732 (GRCm39) Q107P probably benign Het
Btbd9 A G 17: 30,447,842 (GRCm39) S525P probably benign Het
Cabin1 A G 10: 75,482,852 (GRCm39) S2093P probably benign Het
Ccnd1 T C 7: 144,491,781 (GRCm39) D86G possibly damaging Het
Chdh C A 14: 29,756,584 (GRCm39) Q337K probably damaging Het
Cldn9 T C 17: 23,902,421 (GRCm39) D68G probably damaging Het
Cpt1b T A 15: 89,309,409 (GRCm39) K41N probably damaging Het
Dsg1c T C 18: 20,405,408 (GRCm39) Y274H probably benign Het
Eif2ak3 T A 6: 70,860,717 (GRCm39) I431N probably damaging Het
Erbb2 T A 11: 98,317,906 (GRCm39) W416R probably damaging Het
Fgd3 T A 13: 49,450,205 (GRCm39) I15F probably benign Het
Fkbp14 T A 6: 54,566,255 (GRCm39) probably null Het
Havcr1 T C 11: 46,643,353 (GRCm39) V91A probably damaging Het
Kmt2d T C 15: 98,751,987 (GRCm39) probably benign Het
Madd T C 2: 90,984,821 (GRCm39) T1331A probably damaging Het
Mcm5 A C 8: 75,847,538 (GRCm39) D445A probably damaging Het
Mdga2 C A 12: 66,553,556 (GRCm39) L98F probably damaging Het
Micall1 C A 15: 79,011,290 (GRCm39) H553Q probably damaging Het
Mxd4 A G 5: 34,344,671 (GRCm39) probably null Het
Peg10 CC CCCCATCAGGC 6: 4,756,350 (GRCm39) probably benign Het
Peg10 C CCCATCAGGA 6: 4,756,351 (GRCm39) probably benign Het
Prtg T A 9: 72,716,922 (GRCm39) Y88N probably damaging Het
Saxo1 C T 4: 86,363,272 (GRCm39) V404I possibly damaging Het
Sclt1 C A 3: 41,618,398 (GRCm39) E14* probably null Het
Shfl G T 9: 20,784,192 (GRCm39) R138L possibly damaging Het
Strn G A 17: 78,995,028 (GRCm39) L162F probably damaging Het
T T C 17: 8,660,474 (GRCm39) S221P probably benign Het
Tbl1xr1 A G 3: 22,264,578 (GRCm39) D511G probably damaging Het
Ttc7 A C 17: 87,597,674 (GRCm39) N82T probably damaging Het
Ttn C T 2: 76,747,786 (GRCm39) R4421H possibly damaging Het
Uaca T A 9: 60,779,093 (GRCm39) L1158Q probably damaging Het
Vdr T C 15: 97,757,008 (GRCm39) Y288C probably damaging Het
Vdr A T 15: 97,765,089 (GRCm39) S217T probably benign Het
Zhx2 T A 15: 57,684,866 (GRCm39) Y78* probably null Het
Znhit1 C T 5: 137,011,456 (GRCm39) C119Y probably damaging Het
Other mutations in Lipc
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00234:Lipc APN 9 70,727,719 (GRCm39) missense possibly damaging 0.56
IGL02431:Lipc APN 9 70,841,750 (GRCm39) intron probably benign
Immunobolic UTSW 9 70,730,668 (GRCm39) missense probably damaging 1.00
R0112:Lipc UTSW 9 70,727,709 (GRCm39) missense probably damaging 1.00
R0114:Lipc UTSW 9 70,711,063 (GRCm39) missense probably damaging 0.99
R0545:Lipc UTSW 9 70,719,987 (GRCm39) missense probably damaging 1.00
R1051:Lipc UTSW 9 70,709,398 (GRCm39) missense probably benign 0.00
R1069:Lipc UTSW 9 70,730,819 (GRCm39) missense probably benign 0.03
R1350:Lipc UTSW 9 70,705,649 (GRCm39) missense probably benign 0.00
R1742:Lipc UTSW 9 70,727,811 (GRCm39) missense probably damaging 1.00
R2145:Lipc UTSW 9 70,841,817 (GRCm39) missense possibly damaging 0.94
R3880:Lipc UTSW 9 70,727,800 (GRCm39) missense probably damaging 0.99
R4360:Lipc UTSW 9 70,759,864 (GRCm39) intron probably benign
R4999:Lipc UTSW 9 70,724,013 (GRCm39) missense probably benign 0.00
R5159:Lipc UTSW 9 70,720,192 (GRCm39) missense probably benign 0.03
R5197:Lipc UTSW 9 70,705,673 (GRCm39) missense probably benign 0.11
R5458:Lipc UTSW 9 70,759,864 (GRCm39) intron probably benign
R6645:Lipc UTSW 9 70,711,030 (GRCm39) missense probably damaging 1.00
R6749:Lipc UTSW 9 70,730,668 (GRCm39) missense probably damaging 1.00
R6849:Lipc UTSW 9 70,726,129 (GRCm39) critical splice donor site probably null
R7011:Lipc UTSW 9 70,726,236 (GRCm39) missense probably benign 0.09
R7346:Lipc UTSW 9 70,720,029 (GRCm39) missense probably damaging 1.00
R7426:Lipc UTSW 9 70,709,450 (GRCm39) missense probably benign 0.21
R7587:Lipc UTSW 9 70,726,206 (GRCm39) missense probably damaging 1.00
R7830:Lipc UTSW 9 70,720,183 (GRCm39) missense probably damaging 1.00
R8269:Lipc UTSW 9 70,727,655 (GRCm39) missense probably damaging 1.00
R9087:Lipc UTSW 9 70,709,390 (GRCm39) missense probably benign 0.06
R9297:Lipc UTSW 9 70,727,736 (GRCm39) missense probably damaging 0.99
R9431:Lipc UTSW 9 70,723,889 (GRCm39) missense probably damaging 1.00
R9517:Lipc UTSW 9 70,709,560 (GRCm39) missense probably benign 0.00
R9528:Lipc UTSW 9 70,841,841 (GRCm39) start codon destroyed probably null 0.98
R9547:Lipc UTSW 9 70,728,146 (GRCm39) missense unknown
X0054:Lipc UTSW 9 70,720,030 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CCCTGAAATAGGCTGTCAGC -3'
(R):5'- AAATGTGCCCATGAGCGCTC -3'

Sequencing Primer
(F):5'- CACTGTTGGTAAGACAATGCTG -3'
(R):5'- ATGAGCGCTCCGTGCAC -3'
Posted On 2017-01-03