Incidental Mutation 'R6849:Lipc'
ID 534919
Institutional Source Beutler Lab
Gene Symbol Lipc
Ensembl Gene ENSMUSG00000032207
Gene Name lipase, hepatic
Synonyms HL, Hpl
MMRRC Submission 044953-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.104) question?
Stock # R6849 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 70705410-70859503 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 70726129 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 null
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 probably benign
Transcript: ENSMUST00000214995
Predicted Effect probably null
Transcript: ENSMUST00000216798
Meta Mutation Damage Score 0.9491 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.5%
Validation Efficiency 100% (55/55)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310022B05Rik G T 8: 125,366,261 (GRCm39) Q161K probably damaging Het
4930578I06Rik A T 14: 64,223,687 (GRCm39) W30R probably damaging Het
4930578I06Rik G T 14: 64,223,688 (GRCm39) N29K probably benign Het
Aldh6a1 A G 12: 84,490,561 (GRCm39) V18A probably benign Het
Apoa5 A G 9: 46,181,298 (GRCm39) K125E probably benign Het
Atosa A C 9: 74,916,594 (GRCm39) N398H probably damaging Het
Bphl T A 13: 34,234,252 (GRCm39) probably null Het
C2cd3 T A 7: 100,056,134 (GRCm39) V514E probably damaging Het
Cacna1s G A 1: 136,020,432 (GRCm39) R823Q probably benign Het
Cep192 A G 18: 67,945,506 (GRCm39) D202G probably benign Het
Chd5 A T 4: 152,462,995 (GRCm39) N1420Y probably damaging Het
Cnot10 A T 9: 114,461,004 (GRCm39) D55E probably benign Het
Cntn1 T A 15: 92,203,127 (GRCm39) I803N probably damaging Het
Col7a1 G T 9: 108,804,121 (GRCm39) V2217L unknown Het
Cpne9 T G 6: 113,279,079 (GRCm39) V491G probably damaging Het
Cracd C A 5: 77,004,857 (GRCm39) A406E unknown Het
Cracd C T 5: 77,005,004 (GRCm39) A455V unknown Het
Csnk2a1 C A 2: 152,092,484 (GRCm39) H18Q probably benign Het
D130040H23Rik T A 8: 69,755,303 (GRCm39) Y253* probably null Het
Dnah14 A T 1: 181,636,510 (GRCm39) M4321L probably benign Het
Dnah5 A G 15: 28,278,770 (GRCm39) T1122A probably benign Het
Eif4g1 A G 16: 20,499,495 (GRCm39) I515V probably benign Het
Fbn1 T C 2: 125,163,611 (GRCm39) K2082E possibly damaging Het
Fstl1 A G 16: 37,641,521 (GRCm39) K99R probably benign Het
Gar1 T C 3: 129,623,038 (GRCm39) N117S probably damaging Het
Gm3238 A T 10: 77,606,744 (GRCm39) probably benign Het
Gm32742 C T 9: 51,050,014 (GRCm39) M1528I probably benign Het
H2-T3 T C 17: 36,500,697 (GRCm39) I49V probably benign Het
Hyou1 A G 9: 44,298,561 (GRCm39) I581V probably damaging Het
Itk T C 11: 46,222,762 (GRCm39) N563S probably damaging Het
Lingo1 A G 9: 56,526,900 (GRCm39) L563P probably damaging Het
Map4k3 A C 17: 80,937,842 (GRCm39) probably null Het
Mctp2 C T 7: 71,861,466 (GRCm39) C393Y probably damaging Het
Mei1 T A 15: 81,964,146 (GRCm39) L229M possibly damaging Het
Or13g1 T C 7: 85,956,248 (GRCm39) I24M possibly damaging Het
Or9i2 G T 19: 13,816,203 (GRCm39) C111* probably null Het
Pcnx2 A G 8: 126,587,949 (GRCm39) V833A probably damaging Het
Pde8b T C 13: 95,184,307 (GRCm39) N388D possibly damaging Het
Pi4ka G A 16: 17,121,285 (GRCm39) A1197V possibly damaging Het
Psd A G 19: 46,306,185 (GRCm39) Y36H probably damaging Het
Scn8a T A 15: 100,853,468 (GRCm39) probably null Het
Shisa6 A G 11: 66,416,327 (GRCm39) V155A probably benign Het
Slc45a3 T A 1: 131,905,702 (GRCm39) C242S probably damaging Het
Sorbs1 G C 19: 40,365,244 (GRCm39) R180G probably benign Het
Tmc3 T A 7: 83,235,565 (GRCm39) I54K probably damaging Het
Tmprss11g T A 5: 86,644,491 (GRCm39) I118F probably benign Het
Ttn T A 2: 76,744,687 (GRCm39) D5454V possibly damaging Het
Ube2f A G 1: 91,181,935 (GRCm39) probably null Het
Ubr7 T C 12: 102,724,342 (GRCm39) S19P probably damaging Het
Vav3 T C 3: 109,428,782 (GRCm39) V371A probably damaging Het
Vmn2r28 A G 7: 5,483,806 (GRCm39) V798A probably damaging Het
Vmn2r95 T G 17: 18,664,181 (GRCm39) C467G probably damaging Het
Vmn2r95 G T 17: 18,664,182 (GRCm39) C467F probably damaging Het
Vps13b A G 15: 35,905,455 (GRCm39) D3325G probably damaging Het
Wnk2 T C 13: 49,220,834 (GRCm39) T1158A probably damaging Het
Zfp616 T A 11: 73,976,276 (GRCm39) N848K possibly 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
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
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'- AGAGCTGTCCTTTGTTCTGC -3'
(R):5'- AACACCTGATCTGTGGGCAG -3'

Sequencing Primer
(F):5'- TCTGCGCTCTCATGGGATAGC -3'
(R):5'- AAGCATGGATGGGTGCCC -3'
Posted On 2018-09-12