Incidental Mutation 'IGL02293:Lmbrd2'
ID290113
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 #IGL02293
Quality Score
Status
Chromosome15
Chromosomal Location9140550-9202483 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 9172189 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 357 (S357P)
Ref Sequence ENSEMBL: ENSMUSP00000154020 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090380] [ENSMUST00000227556]
Predicted Effect probably benign
Transcript: ENSMUST00000090380
AA Change: S357P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000087858
Gene: ENSMUSG00000039704
AA Change: S357P

DomainStartEndE-ValueType
Pfam:LMBR1 8 546 4.2e-192 PFAM
low complexity region 574 598 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227216
Predicted Effect probably benign
Transcript: ENSMUST00000227556
AA Change: S357P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610507B11Rik T A 11: 78,271,910 L866H probably damaging Het
Agtr1a A G 13: 30,381,357 K135R probably benign Het
Ahdc1 C T 4: 133,065,618 A1390V possibly damaging Het
Aldh1a2 A G 9: 71,285,277 probably null Het
C6 T A 15: 4,755,303 I217K probably benign Het
Ccr1l1 G A 9: 123,977,936 T158I possibly damaging Het
Dnah6 A T 6: 73,133,650 probably benign Het
Ect2l A G 10: 18,140,511 probably null Het
Endov T C 11: 119,505,173 probably benign Het
Fpr-rs7 A G 17: 20,113,970 V86A probably benign Het
Gle1 A G 2: 29,957,760 I660V probably benign Het
Gm2056 A G 12: 88,027,263 N87S probably benign Het
Hk2 A T 6: 82,743,975 D159E probably benign Het
Hmcn1 A G 1: 150,664,915 V2881A probably damaging Het
Hspa14 T C 2: 3,511,034 K68E probably damaging Het
Ifi207 A T 1: 173,723,748 I974N probably damaging Het
Igkv4-71 A C 6: 69,243,322 S42A possibly damaging Het
Itgb4 G A 11: 115,988,926 V635I probably damaging Het
Klhl32 A G 4: 24,626,935 Y555H probably damaging Het
Mfsd1 T A 3: 67,598,092 V380D probably damaging Het
Ndc80 A G 17: 71,514,278 F225S probably damaging Het
Olfr134 G T 17: 38,175,686 V201L probably benign Het
Olfr320 T C 11: 58,684,170 V99A probably benign Het
Plxnd1 A G 6: 115,963,913 V1355A probably damaging Het
Prkd1 A G 12: 50,489,978 S108P probably damaging Het
Ptges3 C T 10: 128,075,335 probably benign Het
Rabggta G T 14: 55,721,696 L5M probably benign Het
Rag1 C T 2: 101,643,046 D584N probably benign Het
Rasl12 A G 9: 65,408,311 D79G probably benign Het
Rhoj A G 12: 75,375,412 probably benign Het
Slc4a9 T C 18: 36,533,215 L483P probably benign 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
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 On2015-04-16