Incidental Mutation 'R2272:Lipa'
ID 242610
Institutional Source Beutler Lab
Gene Symbol Lipa
Ensembl Gene ENSMUSG00000024781
Gene Name lysosomal acid lipase A
Synonyms Lal, Lip1, Lip-1
MMRRC Submission 040272-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2272 (G1)
Quality Score 225
Status Not validated
Chromosome 19
Chromosomal Location 34469718-34504874 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 34488290 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Stop codon at position 119 (R119*)
Ref Sequence ENSEMBL: ENSMUSP00000136967 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049572] [ENSMUST00000178114]
AlphaFold Q9Z0M5
Predicted Effect probably null
Transcript: ENSMUST00000049572
AA Change: R119*
SMART Domains Protein: ENSMUSP00000053270
Gene: ENSMUSG00000024781
AA Change: R119*

DomainStartEndE-ValueType
Pfam:Abhydro_lipase 35 97 1.4e-27 PFAM
Pfam:Abhydrolase_5 78 373 2.6e-11 PFAM
Pfam:Abhydrolase_6 80 382 2.2e-10 PFAM
Pfam:Abhydrolase_1 111 388 1e-27 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000178114
AA Change: R119*
SMART Domains Protein: ENSMUSP00000136967
Gene: ENSMUSG00000024781
AA Change: R119*

DomainStartEndE-ValueType
Pfam:Abhydro_lipase 35 97 1.3e-27 PFAM
Pfam:Abhydrolase_5 78 373 2.5e-11 PFAM
Pfam:Abhydrolase_1 78 379 3.9e-31 PFAM
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.3%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes lipase A, the lysosomal acid lipase (also known as cholesterol ester hydrolase). This enzyme functions in the lysosome to catalyze the hydrolysis of cholesteryl esters and triglycerides. Mutations in this gene can result in Wolman disease and cholesteryl ester storage disease. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2014]
PHENOTYPE: Homozygous null mice show massive accumulation of triglycerides and cholesteryl esters in several organs, depletion of white and brown fat, hepatosplenomegaly, increased energy intake and plasma free fatty acid levels, insulin resistance, lung inflammation, alveolar destruction and premature death. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy10 A T 1: 165,337,866 (GRCm39) E160V probably damaging Het
Ago1 C A 4: 126,347,443 (GRCm39) M435I probably benign Het
Apol7b G A 15: 77,307,910 (GRCm39) A195V probably damaging Het
Arid3c T A 4: 41,724,744 (GRCm39) I364F probably damaging Het
Atg2b C T 12: 105,604,267 (GRCm39) V1545I probably benign Het
Atp4a C A 7: 30,414,925 (GRCm39) S238* probably null Het
Birc6 T C 17: 74,909,966 (GRCm39) V1453A probably benign Het
Bmal2 T C 6: 146,723,612 (GRCm39) F314S probably damaging Het
Brinp3 A G 1: 146,777,142 (GRCm39) R530G possibly damaging Het
Carnmt1 T C 19: 18,680,734 (GRCm39) L336P probably damaging Het
Cdh22 A T 2: 164,985,767 (GRCm39) probably null Het
Cdk5rap2 A C 4: 70,184,915 (GRCm39) S1178R probably benign Het
Cdkl3 T C 11: 51,923,322 (GRCm39) V45A probably benign Het
Cracr2a T A 6: 127,584,261 (GRCm39) F107I probably damaging Het
Cyfip1 G T 7: 55,549,705 (GRCm39) R624L probably null Het
Ddc T C 11: 11,785,764 (GRCm39) N308D probably damaging Het
Dnah10 A G 5: 124,808,530 (GRCm39) N195S probably benign Het
Dnah9 T C 11: 66,003,188 (GRCm39) D872G probably benign Het
Fmo1 A T 1: 162,661,424 (GRCm39) D286E probably damaging Het
Fmo4 A T 1: 162,626,616 (GRCm39) I310N possibly damaging Het
Garin5b T A 7: 4,761,186 (GRCm39) T509S probably benign Het
Hydin A T 8: 111,035,764 (GRCm39) I152L probably benign Het
Itpr1 T A 6: 108,470,716 (GRCm39) C2214S probably damaging Het
Kcnq3 T A 15: 65,900,529 (GRCm39) D242V probably damaging Het
Klhl1 T C 14: 96,755,344 (GRCm39) D137G probably benign Het
Lama5 T C 2: 179,820,396 (GRCm39) D3282G possibly damaging Het
Lhx8 A G 3: 154,022,399 (GRCm39) L254S probably damaging Het
Matn4 A T 2: 164,239,162 (GRCm39) C232S possibly damaging Het
Mios C T 6: 8,226,865 (GRCm39) R614C possibly damaging Het
Mrc2 G A 11: 105,239,257 (GRCm39) probably null Het
Muc6 T A 7: 141,217,423 (GRCm39) T2417S possibly damaging Het
Mycbp2 T C 14: 103,381,774 (GRCm39) H3612R probably null Het
Myo5b G T 18: 74,866,996 (GRCm39) L1382F probably damaging Het
Myo7b C T 18: 32,110,096 (GRCm39) S1122N probably benign Het
Myo9a T A 9: 59,722,584 (GRCm39) F549I probably damaging Het
Ncbp2 T C 16: 31,775,769 (GRCm39) Y138H probably damaging Het
Neil1 A G 9: 57,054,069 (GRCm39) S84P probably damaging Het
Nfix A G 8: 85,453,804 (GRCm39) I256T probably damaging Het
Nlrp4f A T 13: 65,342,222 (GRCm39) D474E probably benign Het
Or5ac21 T G 16: 59,123,807 (GRCm39) M98R possibly damaging Het
Or8b12i T A 9: 20,082,705 (GRCm39) H54L possibly damaging Het
Pcnx1 T C 12: 82,042,088 (GRCm39) V2240A probably benign Het
Per3 T A 4: 151,103,342 (GRCm39) Y530F probably damaging Het
Pes1 C A 11: 3,919,524 (GRCm39) L66I probably damaging Het
Pramel22 G A 4: 143,380,712 (GRCm39) T437I probably damaging Het
Prkdc A G 16: 15,472,681 (GRCm39) probably null Het
Prpf8 T A 11: 75,386,189 (GRCm39) V946E probably damaging Het
Prrc1 G T 18: 57,514,718 (GRCm39) D312Y probably damaging Het
Prss54 C T 8: 96,297,735 (GRCm39) W45* probably null Het
Psg29 A T 7: 16,944,621 (GRCm39) N377I probably benign Het
Rab3gap2 T A 1: 185,015,739 (GRCm39) probably null Het
Serpinb9c C T 13: 33,338,524 (GRCm39) G125E probably damaging Het
Skint4 A G 4: 111,977,065 (GRCm39) T152A probably benign Het
Slc26a2 A G 18: 61,331,650 (GRCm39) C594R possibly damaging Het
Slc47a2 A T 11: 61,219,352 (GRCm39) probably null Het
Ttc39d A G 17: 80,524,675 (GRCm39) K445E probably damaging Het
Ttn T A 2: 76,594,864 (GRCm39) E20394V probably damaging Het
Ugt2b36 A G 5: 87,214,114 (GRCm39) V510A possibly damaging Het
Usf1 T C 1: 171,245,628 (GRCm39) L291P possibly damaging Het
Usp7 T C 16: 8,516,333 (GRCm39) S649G probably benign Het
Vmn1r172 A C 7: 23,359,616 (GRCm39) D167A probably damaging Het
Wnt10b T A 15: 98,672,228 (GRCm39) Q163L probably damaging Het
Other mutations in Lipa
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02469:Lipa APN 19 34,471,435 (GRCm39) missense probably damaging 1.00
IGL02517:Lipa APN 19 34,471,522 (GRCm39) missense possibly damaging 0.47
IGL02869:Lipa APN 19 34,471,371 (GRCm39) utr 3 prime probably benign
IGL02869:Lipa APN 19 34,471,397 (GRCm39) missense probably benign 0.01
buckboard UTSW 19 34,502,146 (GRCm39) missense probably benign 0.04
Pashtun UTSW 19 34,488,328 (GRCm39) missense probably damaging 1.00
suri UTSW 19 34,479,034 (GRCm39) nonsense probably null
R0071:Lipa UTSW 19 34,472,482 (GRCm39) missense probably damaging 1.00
R0244:Lipa UTSW 19 34,478,941 (GRCm39) missense probably damaging 1.00
R1871:Lipa UTSW 19 34,488,328 (GRCm39) missense probably damaging 1.00
R1929:Lipa UTSW 19 34,488,290 (GRCm39) nonsense probably null
R2189:Lipa UTSW 19 34,502,199 (GRCm39) missense probably benign 0.13
R2270:Lipa UTSW 19 34,488,290 (GRCm39) nonsense probably null
R2271:Lipa UTSW 19 34,488,290 (GRCm39) nonsense probably null
R4737:Lipa UTSW 19 34,479,034 (GRCm39) nonsense probably null
R5713:Lipa UTSW 19 34,500,832 (GRCm39) missense probably benign 0.00
R6381:Lipa UTSW 19 34,502,146 (GRCm39) missense probably benign 0.04
R8338:Lipa UTSW 19 34,471,477 (GRCm39) missense probably benign 0.01
RF012:Lipa UTSW 19 34,486,498 (GRCm39) missense probably damaging 1.00
X0067:Lipa UTSW 19 34,486,420 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- CTGGTTTTAAATCCCTGACAAGC -3'
(R):5'- GCATCATGTTTGCTGAGAAGG -3'

Sequencing Primer
(F):5'- CCTGACAAGCTTTACAACTTTTCAAG -3'
(R):5'- TTGCTGAGAAGGTTGGAGCTAAC -3'
Posted On 2014-10-16