Incidental Mutation 'IGL01780:Lipo2'
ID154160
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lipo2
Ensembl Gene ENSMUSG00000087303
Gene Namelipase, member O2
SynonymsGm8981
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.033) question?
Stock #IGL01780
Quality Score
Status
Chromosome19
Chromosomal Location33719670-33769142 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 33730948 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Proline at position 222 (L222P)
Ref Sequence ENSEMBL: ENSMUSP00000118907 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025694] [ENSMUST00000147153]
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 possibly damaging
Transcript: ENSMUST00000147153
AA Change: L222P

PolyPhen 2 Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000118907
Gene: ENSMUSG00000087303
AA Change: L222P

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
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010111I01Rik A G 13: 63,210,125 N648D probably benign Het
Abhd8 A G 8: 71,461,477 V169A probably benign Het
BC024139 C A 15: 76,121,143 L506F probably benign Het
Cfap65 A T 1: 74,928,348 C190* probably null Het
Cib2 A T 9: 54,549,886 H31Q probably damaging Het
Emb A G 13: 117,249,471 probably benign Het
Eml6 T C 11: 29,805,175 M867V probably benign Het
Flnc A T 6: 29,438,493 K129* probably null Het
Gckr C A 5: 31,307,790 H368N possibly damaging Het
Gmds A T 13: 32,225,162 Y106* probably null Het
Homez T C 14: 54,857,898 T118A probably damaging Het
Kcnh7 G A 2: 62,837,163 T344I probably benign Het
Kcnt2 A G 1: 140,351,269 I53V probably benign Het
Krt13 A T 11: 100,119,713 L207Q probably damaging Het
Lrp2 A C 2: 69,486,184 V2151G possibly damaging Het
Mrc2 A G 11: 105,325,721 D112G probably damaging Het
Mrgpra6 T C 7: 47,188,749 T234A probably damaging Het
Mroh2b A G 15: 4,912,000 N338S probably benign Het
Mrpl23 T A 7: 142,536,065 probably benign Het
Myo18a A G 11: 77,850,247 N1442S probably benign Het
Nxn A G 11: 76,274,654 probably benign Het
Olfr1132 T C 2: 87,635,080 I222M possibly damaging Het
Osmr A T 15: 6,828,663 N441K probably benign Het
Patl2 A C 2: 122,121,846 S468R probably damaging Het
Pcdhb1 T C 18: 37,266,522 S509P probably damaging Het
Pmp22 G T 11: 63,158,308 V126F probably benign Het
Prom1 A G 5: 44,029,604 probably benign Het
Prss1 C A 6: 41,463,205 Q159K probably damaging Het
Psd3 G T 8: 67,963,869 H459N probably benign Het
Rasgrp1 A G 2: 117,284,878 L743P probably benign Het
Rpusd4 G A 9: 35,268,424 R71Q probably damaging Het
Rsf1 C T 7: 97,664,770 probably benign Het
Scaf11 T C 15: 96,420,844 T280A possibly damaging Het
Slc16a4 A G 3: 107,303,099 I362V probably benign Het
Syt16 T C 12: 74,266,842 V514A probably benign Het
Tdpoz2 A G 3: 93,652,428 V79A possibly damaging Het
Tenm2 A G 11: 36,046,941 M1635T probably benign Het
Uhrf1bp1 T C 17: 27,893,500 L1221P probably damaging Het
Vmn1r195 A G 13: 22,279,085 T242A probably benign Het
Zfp423 A G 8: 87,781,508 V736A probably damaging Het
Other mutations in Lipo2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01564:Lipo2 APN 19 33721024 missense probably benign 0.03
IGL01868:Lipo2 APN 19 33730838 missense probably benign 0.00
IGL02291:Lipo2 APN 19 33745792 missense possibly damaging 0.80
IGL02350:Lipo2 APN 19 33730948 missense possibly damaging 0.82
IGL02357:Lipo2 APN 19 33730948 missense possibly damaging 0.82
IGL02560:Lipo2 APN 19 33730948 missense possibly damaging 0.82
IGL03354:Lipo2 APN 19 33730870 missense probably benign 0.09
R0183:Lipo2 UTSW 19 33749551 splice site probably null
R0529:Lipo2 UTSW 19 33746935 missense probably benign 0.05
R0576:Lipo2 UTSW 19 33749424 missense probably benign 0.02
R0579:Lipo2 UTSW 19 33746898 missense probably damaging 0.99
R0594:Lipo2 UTSW 19 33746902 missense possibly damaging 0.95
R0621:Lipo2 UTSW 19 33730939 missense probably damaging 1.00
R1019:Lipo2 UTSW 19 33730857 nonsense probably null
R2190:Lipo2 UTSW 19 33748569 missense probably damaging 1.00
R2413:Lipo2 UTSW 19 33751257 missense probably damaging 0.98
R4066:Lipo2 UTSW 19 33720859 missense probably benign 0.01
R4258:Lipo2 UTSW 19 33730928 missense possibly damaging 0.88
R4365:Lipo2 UTSW 19 33721708 missense probably damaging 1.00
R4491:Lipo2 UTSW 19 33721700 missense probably damaging 0.99
R4640:Lipo2 UTSW 19 33720837 missense probably benign 0.04
R4822:Lipo2 UTSW 19 33745751 missense probably benign 0.01
R4872:Lipo2 UTSW 19 33749514 missense probably benign 0.00
R5004:Lipo2 UTSW 19 33721676 critical splice donor site probably null
R5112:Lipo2 UTSW 19 33748465 missense probably benign 0.00
R5440:Lipo2 UTSW 19 33720858 missense probably benign 0.39
R5737:Lipo2 UTSW 19 33721696 missense probably damaging 1.00
R6209:Lipo2 UTSW 19 33749452 missense probably damaging 1.00
R6868:Lipo2 UTSW 19 33748462 missense possibly damaging 0.86
R6893:Lipo2 UTSW 19 33721007 nonsense probably null
X0052:Lipo2 UTSW 19 33720945 missense probably damaging 1.00
Z1088:Lipo2 UTSW 19 33721685 missense probably damaging 1.00
Posted On2014-02-04