Incidental Mutation 'R4360:Lipc'
ID 324861
Institutional Source Beutler Lab
Gene Symbol Lipc
Ensembl Gene ENSMUSG00000032207
Gene Name lipase, hepatic
Synonyms HL, Hpl
MMRRC Submission 041111-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.104) question?
Stock # R4360 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 70705410-70859503 bp(-) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) T to C at 70759864 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000149185 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034731] [ENSMUST00000214995] [ENSMUST00000216798]
AlphaFold P27656
Predicted Effect probably benign
Transcript: ENSMUST00000034731
SMART Domains Protein: ENSMUSP00000034731
Gene: ENSMUSG00000032207

DomainStartEndE-ValueType
Pfam:Lipase 14 350 1.1e-136 PFAM
LH2 353 488 4.62e-18 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000179930
Predicted Effect probably benign
Transcript: ENSMUST00000214995
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215814
Predicted Effect probably benign
Transcript: ENSMUST00000216798
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.6%
Validation Efficiency 100% (50/50)
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930578I07Rik T C 14: 67,175,850 (GRCm39) noncoding transcript Het
Adgra3 T C 5: 50,147,552 (GRCm39) E496G possibly damaging Het
Atg14 C G 14: 47,805,827 (GRCm39) E13Q probably benign Het
BC023105 G T 18: 60,575,073 (GRCm39) noncoding transcript Het
Chd6 A G 2: 160,791,776 (GRCm39) V2527A possibly damaging Het
Csn1s2a G T 5: 87,929,700 (GRCm39) V100L possibly damaging Het
Fah G A 7: 84,238,856 (GRCm39) L330F probably damaging Het
Fmo2 T C 1: 162,709,583 (GRCm39) N268S probably damaging Het
Foxg1 CCAGCAGCAGCAGCAGCAGC CCAGCAGCAGCAGCAGC 12: 49,431,475 (GRCm39) probably benign Het
Frmd4a A T 2: 4,606,052 (GRCm39) H287L probably damaging Het
G2e3 T A 12: 51,410,197 (GRCm39) probably benign Het
Gm1758 A T 16: 14,324,215 (GRCm39) noncoding transcript Het
Gm7204 T C 16: 48,039,196 (GRCm39) noncoding transcript Het
Gm829 T C 4: 45,718,819 (GRCm39) noncoding transcript Het
Hspa14 A G 2: 3,503,560 (GRCm39) V116A possibly damaging Het
Hspa4 T C 11: 53,155,919 (GRCm39) Y662C probably damaging Het
Islr T A 9: 58,064,887 (GRCm39) N207Y probably damaging Het
Ncor2 A G 5: 125,106,036 (GRCm39) S1546P probably damaging Het
Or13a25 T C 7: 140,247,730 (GRCm39) F170L probably damaging Het
Or56a3 A C 7: 104,735,460 (GRCm39) E179A probably damaging Het
Or7g18 G A 9: 18,787,013 (GRCm39) C127Y probably damaging Het
Parp4 A G 14: 56,866,661 (GRCm39) D1075G possibly damaging Het
Pkp2 A G 16: 16,086,546 (GRCm39) I736V probably benign Het
Plekha8 T C 6: 54,599,171 (GRCm39) I235T probably benign Het
Polq A G 16: 36,880,701 (GRCm39) D955G probably benign Het
Pramel16 A G 4: 143,677,433 (GRCm39) F49L possibly damaging Het
Psmd1 A G 1: 86,061,459 (GRCm39) K890E probably damaging Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Scpep1 A G 11: 88,821,070 (GRCm39) Y366H possibly damaging Het
Slc18a3 A G 14: 32,185,882 (GRCm39) V167A probably benign Het
Sp8 A G 12: 118,812,400 (GRCm39) D85G possibly damaging Het
Stard3nl G A 13: 19,554,654 (GRCm39) S144L probably damaging Het
Stk4 A G 2: 163,930,879 (GRCm39) E160G possibly damaging Het
Tbcb T C 7: 29,926,460 (GRCm39) N119S probably benign Het
Tnc G T 4: 63,935,161 (GRCm39) R592S probably benign Het
Trem3 T A 17: 48,556,801 (GRCm39) S91T probably benign Het
Trpc6 A G 9: 8,610,267 (GRCm39) E245G probably benign Het
Usp40 C T 1: 87,880,083 (GRCm39) R1036H probably damaging Het
Usp47 G T 7: 111,654,139 (GRCm39) G112C probably damaging Het
Wdr35 T C 12: 9,024,149 (GRCm39) probably benign Het
Zc3h14 A G 12: 98,746,456 (GRCm39) K555R probably benign Het
Zfp26 T C 9: 20,349,869 (GRCm39) S232G probably benign Het
Zfp811 T C 17: 33,017,432 (GRCm39) T202A probably benign 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
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
R5710:Lipc UTSW 9 70,719,979 (GRCm39) missense probably benign 0.30
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'- GCATTCACTTGCTGCAGGTC -3'
(R):5'- TCTTGATGGTGCCGCAACAG -3'

Sequencing Primer
(F):5'- CATTCACTTGCTGCAGGTCATGAG -3'
(R):5'- AGGCTCTCCTGTGTGCAGTAC -3'
Posted On 2015-07-06