Incidental Mutation 'R0579:Lipo2'
ID 56376
Institutional Source Beutler Lab
Gene Symbol Lipo2
Ensembl Gene ENSMUSG00000087303
Gene Name lipase, member O2
Synonyms Gm8981
MMRRC Submission 038769-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.055) question?
Stock # R0579 (G1)
Quality Score 175
Status Validated
Chromosome 19
Chromosomal Location 33697070-33728759 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 33724298 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 156 (L156Q)
Ref Sequence ENSEMBL: ENSMUSP00000118907 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025694] [ENSMUST00000147153]
AlphaFold D3YY49
Predicted Effect probably benign
Transcript: ENSMUST00000025694
SMART Domains Protein: ENSMUSP00000025694
Gene: ENSMUSG00000024766

DomainStartEndE-ValueType
Pfam:Abhydro_lipase 33 95 4.2e-24 PFAM
Pfam:Abhydrolase_1 76 213 7.3e-16 PFAM
Pfam:Abhydrolase_5 76 370 4.8e-12 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000147153
AA Change: L156Q

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000118907
Gene: ENSMUSG00000087303
AA Change: L156Q

DomainStartEndE-ValueType
Pfam:Abhydro_lipase 33 95 4.4e-24 PFAM
Pfam:Abhydrolase_1 76 213 1.7e-15 PFAM
Pfam:Abhydrolase_5 76 370 1.5e-11 PFAM
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.4%
  • 20x: 94.7%
Validation Efficiency 89% (34/38)
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921517D22Rik GCC GC 13: 59,839,412 (GRCm39) probably null Het
Abcf3 G A 16: 20,369,398 (GRCm39) R260Q probably benign Het
Abcg3 A G 5: 105,121,969 (GRCm39) V136A probably damaging Het
Acr C G 15: 89,453,678 (GRCm39) H72Q probably damaging Het
Ambra1 A G 2: 91,654,810 (GRCm39) N783S possibly damaging Het
Cd300ld2 A G 11: 114,903,125 (GRCm39) F240S probably benign Het
Cep83 A G 10: 94,584,915 (GRCm39) D340G possibly damaging Het
Crybg2 T A 4: 133,800,049 (GRCm39) I403N probably damaging Het
Dnah14 T A 1: 181,572,312 (GRCm39) M2881K possibly damaging Het
Erbb4 T C 1: 68,081,621 (GRCm39) M1138V probably benign Het
Evi5 A G 5: 107,969,575 (GRCm39) V112A probably benign Het
F2r A G 13: 95,754,857 (GRCm39) V9A probably benign Het
Flot1 C A 17: 36,141,900 (GRCm39) S337R probably benign Het
Glt28d2 G A 3: 85,779,440 (GRCm39) T11I probably damaging Het
Gm19345 A G 7: 19,588,901 (GRCm39) probably benign Het
Gm6605 C A 7: 38,147,699 (GRCm39) noncoding transcript Het
Hmgcs2 A T 3: 98,198,264 (GRCm39) I56F probably damaging Het
Ifna9 T A 4: 88,510,508 (GRCm39) T39S possibly damaging Het
Il21 T G 3: 37,281,923 (GRCm39) K74Q possibly damaging Het
Itpripl1 G T 2: 126,983,011 (GRCm39) Y370* probably null Het
Kif24 G A 4: 41,393,706 (GRCm39) P1056S probably damaging Het
L2hgdh A T 12: 69,748,046 (GRCm39) probably benign Het
Nlrp4c T A 7: 6,063,844 (GRCm39) M84K probably benign Het
Npy4r G A 14: 33,868,640 (GRCm39) T216I probably benign Het
Or12d17 T C 17: 37,777,238 (GRCm39) V47A probably benign Het
Or2h2c G C 17: 37,422,347 (GRCm39) L176V probably benign Het
Or6c1 A T 10: 129,518,106 (GRCm39) C167* probably null Het
Pafah1b2 T C 9: 45,880,011 (GRCm39) E222G probably benign Het
Pop1 T A 15: 34,510,115 (GRCm39) D406E possibly damaging Het
Proser1 A G 3: 53,374,572 (GRCm39) Y32C probably damaging Het
Ptprj C A 2: 90,266,913 (GRCm39) probably null Het
Slc1a3 T A 15: 8,717,793 (GRCm39) I100F probably damaging Het
Slc25a22 T C 7: 141,011,272 (GRCm39) D176G probably damaging Het
Stard7 T C 2: 127,126,473 (GRCm39) V99A probably damaging Het
Stk33 C T 7: 108,924,904 (GRCm39) V184I probably damaging Het
Timmdc1 A G 16: 38,342,745 (GRCm39) L51P probably benign Het
Tppp T C 13: 74,169,352 (GRCm39) S31P probably benign Het
Upf2 A T 2: 5,993,240 (GRCm39) R599W unknown Het
Vav1 G T 17: 57,586,271 (GRCm39) W25L probably benign Het
Other mutations in Lipo2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01564:Lipo2 APN 19 33,698,424 (GRCm39) missense probably benign 0.03
IGL01780:Lipo2 APN 19 33,708,348 (GRCm39) missense possibly damaging 0.82
IGL01868:Lipo2 APN 19 33,708,238 (GRCm39) missense probably benign 0.00
IGL02291:Lipo2 APN 19 33,723,192 (GRCm39) missense possibly damaging 0.80
IGL02350:Lipo2 APN 19 33,708,348 (GRCm39) missense possibly damaging 0.82
IGL02357:Lipo2 APN 19 33,708,348 (GRCm39) missense possibly damaging 0.82
IGL02560:Lipo2 APN 19 33,708,348 (GRCm39) missense possibly damaging 0.82
IGL03354:Lipo2 APN 19 33,708,270 (GRCm39) missense probably benign 0.09
R0183:Lipo2 UTSW 19 33,726,951 (GRCm39) splice site probably null
R0529:Lipo2 UTSW 19 33,724,335 (GRCm39) missense probably benign 0.05
R0576:Lipo2 UTSW 19 33,726,824 (GRCm39) missense probably benign 0.02
R0594:Lipo2 UTSW 19 33,724,302 (GRCm39) missense possibly damaging 0.95
R0621:Lipo2 UTSW 19 33,708,339 (GRCm39) missense probably damaging 1.00
R1019:Lipo2 UTSW 19 33,708,257 (GRCm39) nonsense probably null
R2190:Lipo2 UTSW 19 33,725,969 (GRCm39) missense probably damaging 1.00
R2413:Lipo2 UTSW 19 33,728,657 (GRCm39) missense probably damaging 0.98
R4066:Lipo2 UTSW 19 33,698,259 (GRCm39) missense probably benign 0.01
R4258:Lipo2 UTSW 19 33,708,328 (GRCm39) missense possibly damaging 0.88
R4365:Lipo2 UTSW 19 33,699,108 (GRCm39) missense probably damaging 1.00
R4491:Lipo2 UTSW 19 33,699,100 (GRCm39) missense probably damaging 0.99
R4640:Lipo2 UTSW 19 33,698,237 (GRCm39) missense probably benign 0.04
R4822:Lipo2 UTSW 19 33,723,151 (GRCm39) missense probably benign 0.01
R4872:Lipo2 UTSW 19 33,726,914 (GRCm39) missense probably benign 0.00
R5004:Lipo2 UTSW 19 33,699,076 (GRCm39) critical splice donor site probably null
R5112:Lipo2 UTSW 19 33,725,865 (GRCm39) missense probably benign 0.00
R5440:Lipo2 UTSW 19 33,698,258 (GRCm39) missense probably benign 0.39
R5737:Lipo2 UTSW 19 33,699,096 (GRCm39) missense probably damaging 1.00
R6209:Lipo2 UTSW 19 33,726,852 (GRCm39) missense probably damaging 1.00
R6868:Lipo2 UTSW 19 33,725,862 (GRCm39) missense possibly damaging 0.86
R6893:Lipo2 UTSW 19 33,698,407 (GRCm39) nonsense probably null
R7176:Lipo2 UTSW 19 33,723,207 (GRCm39) missense possibly damaging 0.71
R7853:Lipo2 UTSW 19 33,737,344 (GRCm39) start gained probably benign
R8092:Lipo2 UTSW 19 33,726,880 (GRCm39) missense probably benign 0.00
R8101:Lipo2 UTSW 19 33,698,394 (GRCm39) missense possibly damaging 0.79
R8464:Lipo2 UTSW 19 33,726,023 (GRCm39) missense probably benign 0.02
R8958:Lipo2 UTSW 19 33,698,361 (GRCm39) nonsense probably null
R8968:Lipo2 UTSW 19 33,726,917 (GRCm39) missense probably damaging 1.00
R9752:Lipo2 UTSW 19 33,723,221 (GRCm39) missense possibly damaging 0.78
X0052:Lipo2 UTSW 19 33,698,345 (GRCm39) missense probably damaging 1.00
Z1088:Lipo2 UTSW 19 33,699,085 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGTATAGCCAGCTCACTCGTGCAG -3'
(R):5'- ACCACTTTGTGAACCATGTCCACC -3'

Sequencing Primer
(F):5'- TCTGTTTGAGACCTGACCAAG -3'
(R):5'- TGTCCACCTTCACATAGATCACATAG -3'
Posted On 2013-07-11