Incidental Mutation 'R1742:Lipc'
ID 200434
Institutional Source Beutler Lab
Gene Symbol Lipc
Ensembl Gene ENSMUSG00000032207
Gene Name lipase, hepatic
Synonyms HL, Hpl
MMRRC Submission 039774-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.104) question?
Stock # R1742 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 70705410-70859503 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 70727811 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 12 (L12Q)
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: L97Q

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000034731
Gene: ENSMUSG00000032207
AA Change: L97Q

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: L12Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 96.9%
  • 10x: 95.4%
  • 20x: 92.7%
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankhd1 C A 18: 36,758,318 (GRCm39) A1004E probably damaging Het
Arfgef2 A G 2: 166,708,900 (GRCm39) S1071G probably damaging Het
Arhgef5 T A 6: 43,257,133 (GRCm39) I1228N probably damaging Het
Auh G A 13: 52,989,532 (GRCm39) P308L probably benign Het
Bptf A G 11: 107,001,777 (GRCm39) V445A probably damaging Het
Btf3 C T 13: 98,452,804 (GRCm39) M1I probably null Het
Bves C T 10: 45,223,961 (GRCm39) T207M probably damaging Het
Ccdc171 T A 4: 83,599,521 (GRCm39) S779T probably damaging Het
Ccdc54 T C 16: 50,410,601 (GRCm39) K222E possibly damaging Het
Cebpe A G 14: 54,949,057 (GRCm39) V120A probably benign Het
Clhc1 T A 11: 29,507,647 (GRCm39) probably null Het
Col22a1 C T 15: 71,673,762 (GRCm39) G985S unknown Het
Col6a3 T A 1: 90,741,516 (GRCm39) I639F probably damaging Het
Cryga C A 1: 65,142,280 (GRCm39) V38L probably benign Het
Dll3 T C 7: 27,993,848 (GRCm39) T530A probably benign Het
Dnaaf9 A T 2: 130,582,315 (GRCm39) probably null Het
Dnah7a G A 1: 53,495,843 (GRCm39) P3205S probably benign Het
Dpp10 T A 1: 123,372,935 (GRCm39) Y224F probably damaging Het
Eif1ad10 C T 12: 88,216,453 (GRCm39) D140N unknown Het
Fcrl2 T C 3: 87,166,350 (GRCm39) T142A possibly damaging Het
Fyttd1 C T 16: 32,725,923 (GRCm39) R175* probably null Het
Gm10277 TC T 11: 77,676,828 (GRCm39) probably null Het
Gpr33 T C 12: 52,071,045 (GRCm39) probably null Het
Gse1 T A 8: 121,293,689 (GRCm39) V205E probably damaging Het
Herc4 C A 10: 63,123,728 (GRCm39) N461K probably benign Het
Ifi206 G A 1: 173,309,537 (GRCm39) T153I probably benign Het
Iqca1 T C 1: 90,025,773 (GRCm39) I341V probably benign Het
Itsn1 T G 16: 91,613,847 (GRCm39) probably null Het
Kcnk5 T A 14: 20,191,925 (GRCm39) Y412F probably benign Het
Lemd1 T A 1: 132,156,036 (GRCm39) I26K probably damaging Het
Lrrtm1 C A 6: 77,221,074 (GRCm39) P177Q probably damaging Het
Mcph1 G A 8: 18,657,379 (GRCm39) G73R probably benign Het
Msantd5f6 T C 4: 73,319,447 (GRCm39) D99G probably damaging Het
Myh11 A T 16: 14,037,908 (GRCm39) L899Q probably damaging Het
Myo18a G T 11: 77,732,293 (GRCm39) R822L probably damaging Het
Nav3 T C 10: 109,605,074 (GRCm39) T1000A probably benign Het
Nox4 T C 7: 86,945,026 (GRCm39) V94A possibly damaging Het
Or10ag53 T A 2: 87,083,122 (GRCm39) N280K probably benign Het
Or4c123 G T 2: 89,126,768 (GRCm39) P282H probably damaging Het
Or7g32 A G 9: 19,389,337 (GRCm39) S67P probably damaging Het
Oxr1 T C 15: 41,713,955 (GRCm39) L679P probably damaging Het
Pcdhb17 T C 18: 37,619,629 (GRCm39) I473T probably damaging Het
Pgbd5 T A 8: 125,107,046 (GRCm39) E165D probably damaging Het
Pgpep1l A T 7: 67,886,802 (GRCm39) V169D probably damaging Het
Phf12 C T 11: 77,900,312 (GRCm39) T136I probably benign Het
Pif1 T A 9: 65,495,132 (GRCm39) M14K probably benign Het
Pigr A G 1: 130,772,823 (GRCm39) E347G probably damaging Het
Plekha3 G A 2: 76,513,223 (GRCm39) E103K possibly damaging Het
Ptgs2 A G 1: 149,980,150 (GRCm39) I363V probably damaging Het
Rasl11a T A 5: 146,783,805 (GRCm39) probably null Het
Recql T C 6: 142,310,298 (GRCm39) T511A probably damaging Het
Rgl2 T A 17: 34,156,197 (GRCm39) probably null Het
Rpp25l T C 4: 41,712,763 (GRCm39) Y4C probably damaging Het
Sass6 T G 3: 116,401,126 (GRCm39) C156G probably damaging Het
Sgta T G 10: 80,882,111 (GRCm39) N288T probably damaging Het
Slco1a4 T A 6: 141,770,771 (GRCm39) T282S probably benign Het
Smad4 T C 18: 73,808,968 (GRCm39) R100G probably damaging Het
Sox8 C T 17: 25,786,915 (GRCm39) V263M probably damaging Het
Sp8 A G 12: 118,813,552 (GRCm39) H469R probably benign Het
Spata1 A T 3: 146,175,378 (GRCm39) probably null Het
Taar7a G A 10: 23,869,117 (GRCm39) S88F probably damaging Het
Tnks2 T C 19: 36,853,661 (GRCm39) L749S probably damaging Het
Tollip C A 7: 141,446,592 (GRCm39) R19L probably damaging Het
Tox2 G A 2: 163,067,446 (GRCm39) R55H probably benign Het
Vmn2r27 T C 6: 124,177,636 (GRCm39) E456G possibly damaging Het
Vmn2r77 T A 7: 86,444,543 (GRCm39) N65K probably benign Het
Vwf T C 6: 125,644,513 (GRCm39) M2456T probably benign Het
Zfp526 A G 7: 24,923,939 (GRCm39) N66S possibly damaging Het
Zic1 T C 9: 91,243,629 (GRCm39) Y446C 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
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
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'- TTACCTCCAGCCATAGGAGAAGAGC -3'
(R):5'- GACGGACTGACCAATGTACAGGAC -3'

Sequencing Primer
(F):5'- AAGAGCAGCCACGTCCTG -3'
(R):5'- TATCCTCAGCACGAGGAGGTC -3'
Posted On 2014-05-23