Incidental Mutation 'IGL01554:Lmbrd2'
ID90686
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lmbrd2
Ensembl Gene ENSMUSG00000039704
Gene NameLMBR1 domain containing 2
Synonyms9930036E21Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.178) question?
Stock #IGL01554
Quality Score
Status
Chromosome15
Chromosomal Location9140550-9202483 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 9165819 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Cysteine at position 260 (Y260C)
Ref Sequence ENSEMBL: ENSMUSP00000154020 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090380] [ENSMUST00000227556]
Predicted Effect probably damaging
Transcript: ENSMUST00000090380
AA Change: Y260C

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000087858
Gene: ENSMUSG00000039704
AA Change: Y260C

DomainStartEndE-ValueType
Pfam:LMBR1 8 546 4.2e-192 PFAM
low complexity region 574 598 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226149
Predicted Effect possibly damaging
Transcript: ENSMUST00000227556
AA Change: Y260C

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933406M09Rik A G 1: 134,389,958 N156S probably damaging Het
Abca8a T C 11: 110,042,166 I1211V probably benign Het
Adgre4 A G 17: 55,817,090 S497G probably damaging Het
Ankrd55 T C 13: 112,323,067 M65T possibly damaging Het
Ermard A G 17: 15,051,593 D338G possibly damaging Het
Espl1 T C 15: 102,313,225 L983P probably damaging Het
Ext2 A C 2: 93,811,949 L192V probably damaging Het
Fam189b A G 3: 89,185,581 T257A probably damaging Het
Fam83b T A 9: 76,502,121 Y241F probably benign Het
Fbxl12 G A 9: 20,638,919 P170S possibly damaging Het
Fsip2 C A 2: 82,977,278 P1314T possibly damaging Het
Greb1l A G 18: 10,522,144 R747G probably benign Het
Hspa1a G T 17: 34,970,524 P468T probably damaging Het
Lamb1 T C 12: 31,306,977 C1028R probably damaging Het
Lcn8 C T 2: 25,654,186 A40V possibly damaging Het
Mex3d G T 10: 80,382,035 N449K possibly damaging Het
Ncam2 A G 16: 81,512,935 K438E possibly damaging Het
Nudt7 A G 8: 114,147,885 probably benign Het
Nup214 C A 2: 32,051,072 S39* probably null Het
Olfr821 T C 10: 130,034,183 S186P probably damaging Het
Olfr866 T C 9: 20,027,408 I177V possibly damaging Het
Opn5 A G 17: 42,607,198 S58P probably damaging Het
Pcsk1 T A 13: 75,132,307 N750K probably benign Het
Pdzrn3 T C 6: 101,150,541 N1055D probably damaging Het
Phf2 T A 13: 48,805,879 K884* probably null Het
Prkdc A G 16: 15,652,302 N191S probably benign Het
Prpf8 A T 11: 75,495,646 Q987L probably damaging Het
Prrc2c G A 1: 162,710,786 P425L probably damaging Het
Rab36 T C 10: 75,050,688 I166T possibly damaging Het
Rab3gap1 G T 1: 127,928,008 L461F possibly damaging Het
Rnls A T 19: 33,391,099 Y27N possibly damaging Het
Sncaip A T 18: 52,868,934 I176F possibly damaging Het
Tagap G A 17: 7,932,948 G322S probably benign Het
Tas2r130 C T 6: 131,630,083 A250T probably benign Het
Tgs1 A G 4: 3,593,632 S507G probably null Het
Ttn T C 2: 76,875,712 probably benign Het
Zp2 T C 7: 120,138,325 K246E possibly damaging Het
Other mutations in Lmbrd2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00586:Lmbrd2 APN 15 9157295 missense probably damaging 1.00
IGL00864:Lmbrd2 APN 15 9175210 missense probably damaging 1.00
IGL02142:Lmbrd2 APN 15 9186685 missense probably damaging 1.00
IGL02176:Lmbrd2 APN 15 9182574 missense probably damaging 1.00
IGL02293:Lmbrd2 APN 15 9172189 missense probably benign
IGL02692:Lmbrd2 APN 15 9149068 missense possibly damaging 0.94
IGL03101:Lmbrd2 APN 15 9186608 missense probably damaging 1.00
R0102:Lmbrd2 UTSW 15 9183952 missense probably damaging 1.00
R0370:Lmbrd2 UTSW 15 9165852 missense probably damaging 0.97
R0379:Lmbrd2 UTSW 15 9149479 missense probably benign 0.00
R0513:Lmbrd2 UTSW 15 9194729 missense probably damaging 1.00
R1610:Lmbrd2 UTSW 15 9186612 missense probably benign 0.19
R1628:Lmbrd2 UTSW 15 9182506 missense probably damaging 1.00
R1844:Lmbrd2 UTSW 15 9177751 nonsense probably null
R2422:Lmbrd2 UTSW 15 9194765 missense possibly damaging 0.83
R3614:Lmbrd2 UTSW 15 9177711 missense probably damaging 1.00
R3924:Lmbrd2 UTSW 15 9149537 missense probably benign
R4014:Lmbrd2 UTSW 15 9151585 splice site probably benign
R4298:Lmbrd2 UTSW 15 9165795 missense possibly damaging 0.92
R5126:Lmbrd2 UTSW 15 9194701 missense possibly damaging 0.91
R5699:Lmbrd2 UTSW 15 9175182 missense probably benign 0.40
R5841:Lmbrd2 UTSW 15 9182570 missense possibly damaging 0.94
R5974:Lmbrd2 UTSW 15 9172115 missense probably benign 0.25
R5988:Lmbrd2 UTSW 15 9182406 splice site probably null
R6179:Lmbrd2 UTSW 15 9149175 missense probably damaging 0.99
R6666:Lmbrd2 UTSW 15 9151569 missense probably benign 0.06
R7180:Lmbrd2 UTSW 15 9175196 missense possibly damaging 0.90
R7269:Lmbrd2 UTSW 15 9194684 missense probably damaging 1.00
R7341:Lmbrd2 UTSW 15 9165819 missense possibly damaging 0.96
R8017:Lmbrd2 UTSW 15 9172230 missense probably benign 0.00
R8066:Lmbrd2 UTSW 15 9172085 missense probably benign 0.35
R8110:Lmbrd2 UTSW 15 9175192 missense probably damaging 1.00
R8393:Lmbrd2 UTSW 15 9178350 missense probably damaging 1.00
R8401:Lmbrd2 UTSW 15 9156207 missense possibly damaging 0.85
Posted On2013-12-09