Incidental Mutation 'R5197:Lipc'
ID 400370
Institutional Source Beutler Lab
Gene Symbol Lipc
Ensembl Gene ENSMUSG00000032207
Gene Name lipase, hepatic
Synonyms HL, Hpl
MMRRC Submission 042773-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.104) question?
Stock # R5197 (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 70705673 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Valine at position 470 (E470V)
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: E470V

PolyPhen 2 Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000034731
Gene: ENSMUSG00000032207
AA Change: E470V

DomainStartEndE-ValueType
Pfam:Lipase 14 350 1.1e-136 PFAM
LH2 353 488 4.62e-18 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000157119
Predicted Effect probably benign
Transcript: ENSMUST00000216798
AA Change: E385V

PolyPhen 2 Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)
Meta Mutation Damage Score 0.3556 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.5%
Validation Efficiency 99% (67/68)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsbg1 T C 9: 54,529,866 (GRCm39) E247G possibly damaging Het
Adgra3 A G 5: 50,118,096 (GRCm39) F1151L probably benign Het
Afg3l2 G T 18: 67,554,329 (GRCm39) L458M probably damaging Het
Aldh4a1 A C 4: 139,375,612 (GRCm39) probably benign Het
Anln A T 9: 22,264,077 (GRCm39) probably null Het
Aste1 T C 9: 105,282,253 (GRCm39) S74P probably damaging Het
Atp6v0e2 G A 6: 48,517,051 (GRCm39) R77H probably benign Het
Brpf1 A G 6: 113,296,902 (GRCm39) D962G possibly damaging Het
Btbd2 T C 10: 80,482,253 (GRCm39) D249G probably damaging Het
Catsper3 T C 13: 55,955,989 (GRCm39) probably null Het
Cfap43 A G 19: 47,885,811 (GRCm39) L268P probably damaging Het
Cftr T C 6: 18,255,413 (GRCm39) V540A probably benign Het
Col22a1 C T 15: 71,881,255 (GRCm39) G32D probably damaging Het
Col5a2 G T 1: 45,432,241 (GRCm39) P804Q probably benign Het
Cyp2d41-ps A G 15: 82,662,981 (GRCm39) noncoding transcript Het
Cyp39a1 T G 17: 44,057,429 (GRCm39) L423V possibly damaging Het
Elmo1 T G 13: 20,748,607 (GRCm39) V484G probably benign Het
Eps8 C A 6: 137,467,288 (GRCm39) Q656H probably damaging Het
Eps8 T C 6: 137,467,289 (GRCm39) Q656R possibly damaging Het
Fshb T C 2: 106,887,854 (GRCm39) D55G possibly damaging Het
Garin1a G T 6: 29,281,221 (GRCm39) probably benign Het
H3c4 T A 13: 23,760,304 (GRCm39) L110Q probably damaging Het
Herc1 C A 9: 66,355,786 (GRCm39) Q2346K probably damaging Het
Htr3b T C 9: 48,856,815 (GRCm39) D221G probably benign Het
Ift74 T A 4: 94,550,833 (GRCm39) D328E probably benign Het
Kif21b A T 1: 136,072,363 (GRCm39) K23M probably damaging Het
Lgr6 C T 1: 134,921,748 (GRCm39) A199T probably damaging Het
Lrrc4 G T 6: 28,830,142 (GRCm39) T68K probably damaging Het
Lrrc63 T A 14: 75,322,322 (GRCm39) H594L possibly damaging Het
Mfsd14a A T 3: 116,442,150 (GRCm39) probably benign Het
Mob2 T C 7: 141,563,274 (GRCm39) probably null Het
Nckap5 T A 1: 126,150,410 (GRCm39) H105L possibly damaging Het
Ngef C A 1: 87,437,090 (GRCm39) G133* probably null Het
Or14j2 T G 17: 37,886,111 (GRCm39) I68L probably benign Het
Or1e16 AGCGGTCGTAGGC AGC 11: 73,286,480 (GRCm39) probably null Het
Or2t1 T A 14: 14,328,462 (GRCm38) M117K probably damaging Het
Or52s1 G A 7: 102,861,207 (GRCm39) V47I probably benign Het
Or5b120 G T 19: 13,479,748 (GRCm39) V14F possibly damaging Het
Or5g23 T C 2: 85,438,791 (GRCm39) I154M probably benign Het
Pard3 A G 8: 127,800,040 (GRCm39) probably null Het
Pgm2 C T 5: 64,263,175 (GRCm39) A274V possibly damaging Het
Ppp1r9a T A 6: 5,156,177 (GRCm39) S1144R probably damaging Het
Pramel23 A C 4: 143,424,632 (GRCm39) C270W possibly damaging Het
Prkcq C T 2: 11,304,227 (GRCm39) P590L probably damaging Het
Psmd13 T A 7: 140,474,374 (GRCm39) probably null Het
Rab3gap1 T A 1: 127,816,931 (GRCm39) D63E probably benign Het
Rag2 C A 2: 101,461,085 (GRCm39) T465K probably damaging Het
Rnase6 A G 14: 51,367,670 (GRCm39) M21V unknown Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Ryr2 A T 13: 11,653,316 (GRCm39) probably null Het
Sash1 T G 10: 8,615,989 (GRCm39) R624S probably damaging Het
Slc1a2 A G 2: 102,586,460 (GRCm39) I355V probably benign Het
Srrm2 T C 17: 24,036,358 (GRCm39) S1097P probably benign Het
Sugct C T 13: 17,497,861 (GRCm39) A271T probably damaging Het
Tdrd7 T C 4: 46,034,350 (GRCm39) V1065A probably damaging Het
Tmprss6 T A 15: 78,338,389 (GRCm39) Y307F probably damaging Het
Tram1 T C 1: 13,642,126 (GRCm39) N216S probably benign Het
Ttk T C 9: 83,721,394 (GRCm39) V93A probably benign Het
Ubr4 A G 4: 139,195,408 (GRCm39) Y1210C probably damaging Het
Wdr7 A G 18: 63,871,937 (GRCm39) K364E probably benign Het
Xrcc2 G T 5: 25,897,656 (GRCm39) H98N probably benign Het
Zdhhc11 A G 13: 74,113,688 (GRCm39) I77V probably benign Het
Zfp54 C T 17: 21,654,442 (GRCm39) S312L probably benign Het
Zfp647 G A 15: 76,796,285 (GRCm39) P125L 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
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'- CCTGCTGAGTCATCTCACAC -3'
(R):5'- ACGGCTTTCACTGACTCAAG -3'

Sequencing Primer
(F):5'- CTGCTGAGTCATCTCACACAATATAG -3'
(R):5'- CACTGACTCAAGTTTTATTTTTCCTC -3'
Posted On 2016-07-06