Incidental Mutation 'R3880:Lipc'
ID 312789
Institutional Source Beutler Lab
Gene Symbol Lipc
Ensembl Gene ENSMUSG00000032207
Gene Name lipase, hepatic
Synonyms HL, Hpl
MMRRC Submission 040794-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.104) question?
Stock # R3880 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 70705410-70859503 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 70727800 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 16 (I16F)
Ref Sequence ENSEMBL: ENSMUSP00000149185 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034731] [ENSMUST00000214995] [ENSMUST00000216798]
AlphaFold P27656
Predicted Effect probably damaging
Transcript: ENSMUST00000034731
AA Change: I101F

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000034731
Gene: ENSMUSG00000032207
AA Change: I101F

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 noncoding transcript
Transcript: ENSMUST00000215814
Predicted Effect probably damaging
Transcript: ENSMUST00000216798
AA Change: I16F

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
Meta Mutation Damage Score 0.7869 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.5%
Validation Efficiency 92% (35/38)
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc9 A G 6: 142,584,959 (GRCm39) W872R probably damaging Het
Abcg3 T C 5: 105,086,046 (GRCm39) probably benign Het
Adgrv1 T A 13: 81,583,824 (GRCm39) Q4627L probably benign Het
Armc2 T C 10: 41,839,721 (GRCm39) I415V possibly damaging Het
Atp1b1 C T 1: 164,270,874 (GRCm39) R35H probably benign Het
Bcas3 A G 11: 85,261,948 (GRCm39) M107V probably benign Het
Ccdc43 T C 11: 102,583,029 (GRCm39) probably null Het
Dtx4 A C 19: 12,463,820 (GRCm39) S321A probably benign Het
Enox1 A T 14: 77,848,826 (GRCm39) H379L possibly damaging Het
Evx1 A T 6: 52,290,846 (GRCm39) D6V probably damaging Het
Fubp1 T A 3: 151,926,133 (GRCm39) V286E probably damaging Het
Itgav T C 2: 83,598,645 (GRCm39) V234A probably damaging Het
Khdc3 T C 9: 73,010,872 (GRCm39) S241P possibly damaging Het
Mael T C 1: 166,064,437 (GRCm39) probably benign Het
Myo7b T G 18: 32,102,567 (GRCm39) E1487A probably damaging Het
Or52a33 T G 7: 103,288,831 (GRCm39) K172T probably benign Het
Osgin1 A G 8: 120,168,191 (GRCm39) H6R probably benign Het
Otog C T 7: 45,937,445 (GRCm39) T1718I possibly damaging Het
Otogl T C 10: 107,663,565 (GRCm39) E1002G probably damaging Het
Pkd1l1 T C 11: 8,911,983 (GRCm39) N241S unknown Het
Psmd9 C T 5: 123,372,653 (GRCm39) probably benign Het
Secisbp2l C T 2: 125,582,657 (GRCm39) G933D possibly damaging Het
Slc6a2 C A 8: 93,716,846 (GRCm39) N337K probably damaging Het
Snx19 A T 9: 30,373,688 (GRCm39) Q917L probably damaging Het
Srsf3 T C 17: 29,255,257 (GRCm39) V14A probably damaging Het
Sspo G A 6: 48,471,874 (GRCm39) V4729I probably benign Het
Syngap1 T A 17: 27,172,038 (GRCm39) I82N probably damaging Het
Telo2 A T 17: 25,325,807 (GRCm39) M407K probably damaging Het
Thsd7b G A 1: 129,523,107 (GRCm39) G47D probably damaging Het
Tradd A T 8: 105,987,287 (GRCm39) N6K possibly damaging Het
Trim30a C A 7: 104,060,396 (GRCm39) C460F probably benign Het
Trip13 T C 13: 74,066,597 (GRCm39) Y318C probably damaging Het
Ubfd1 T A 7: 121,667,999 (GRCm39) probably benign Het
Uggt1 A G 1: 36,215,885 (GRCm39) probably benign Het
Wdr7 T A 18: 63,857,226 (GRCm39) C101S possibly damaging Het
Zfp345 T C 2: 150,314,075 (GRCm39) I487M 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
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
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'- AGGAGAGGCCTCATATCTGC -3'
(R):5'- AGCACGAGGAGGTCTTTCTG -3'

Sequencing Primer
(F):5'- ACTTGCAGTCTGGGCACTG -3'
(R):5'- TTCTGGTGGGGAGAAAGATCTAGC -3'
Posted On 2015-04-30