Incidental Mutation 'IGL02692:Lmbrd2'
ID303797
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 #IGL02692
Quality Score
Status
Chromosome15
Chromosomal Location9140550-9202483 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 9149068 bp
ZygosityHeterozygous
Amino Acid Change Valine to Isoleucine at position 13 (V13I)
Ref Sequence ENSEMBL: ENSMUSP00000154020 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090380] [ENSMUST00000190131] [ENSMUST00000227556]
Predicted Effect possibly damaging
Transcript: ENSMUST00000090380
AA Change: V13I

PolyPhen 2 Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000087858
Gene: ENSMUSG00000039704
AA Change: V13I

DomainStartEndE-ValueType
Pfam:LMBR1 8 546 4.2e-192 PFAM
low complexity region 574 598 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000190131
SMART Domains Protein: ENSMUSP00000139997
Gene: ENSMUSG00000054115

DomainStartEndE-ValueType
FBOX 65 105 2.3e-10 SMART
LRR 170 194 5.3e-1 SMART
LRR 195 219 5.3e-2 SMART
LRR 220 245 1.2e-1 SMART
LRR 299 324 1.2e-1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000190406
Predicted Effect possibly damaging
Transcript: ENSMUST00000227556
AA Change: V13I

PolyPhen 2 Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017N19Rik A C 10: 100,603,548 S72R probably benign Het
4930544G11Rik T C 6: 65,952,808 V9A probably damaging Het
Actl11 A G 9: 107,929,308 N277D probably benign Het
Adam2 T A 14: 66,074,087 I57F probably damaging Het
Adgrf1 T C 17: 43,303,778 F251S probably damaging Het
Anapc15-ps T C 10: 95,673,227 I64V probably benign Het
Anapc4 T C 5: 52,864,529 V651A probably damaging Het
Atl2 T C 17: 79,865,053 N163D probably benign Het
B4galnt3 G A 6: 120,210,311 R708C probably damaging Het
Capza2 C T 6: 17,654,116 Q56* probably null Het
Cspg4 T A 9: 56,887,454 H824Q probably benign Het
Dock7 G A 4: 98,987,386 P1106S probably damaging Het
Fat4 A G 3: 38,951,086 Y1878C probably damaging Het
Grk2 A T 19: 4,290,688 probably benign Het
Loxhd1 G T 18: 77,356,913 C336F probably damaging Het
Morc1 T A 16: 48,510,233 F355L probably null Het
Mov10 C A 3: 104,800,803 E503* probably null Het
Nt5dc3 T A 10: 86,804,778 probably null Het
Olfr317 A G 11: 58,732,517 V216A probably benign Het
Phf20 T A 2: 156,298,578 M724K probably damaging Het
Pla2g2e G T 4: 138,882,559 probably benign Het
Polq T A 16: 37,060,627 V772E probably damaging Het
Rhoh A G 5: 65,892,800 R138G probably benign Het
Rnf123 G A 9: 108,068,302 R390* probably null Het
Sept7 A G 9: 25,296,490 probably benign Het
Serpina9 A C 12: 104,008,406 F163V probably damaging Het
Slc2a13 A T 15: 91,321,658 F442Y probably benign Het
Slc34a1 G A 13: 55,403,236 probably benign Het
Slc6a11 T C 6: 114,162,139 F236S probably damaging Het
Usp1 A G 4: 98,928,960 K130E probably benign Het
Zfp386 A G 12: 116,059,235 E156G probably damaging Het
Zfp957 C T 14: 79,213,385 V325I unknown 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
IGL01554:Lmbrd2 APN 15 9165819 missense possibly damaging 0.96
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
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 On2015-04-16