Incidental Mutation 'IGL00087:Lmnb2'
ID 1229
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lmnb2
Ensembl Gene ENSMUSG00000062075
Gene Name lamin B2
Synonyms lamin B3
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL00087
Quality Score
Status
Chromosome 10
Chromosomal Location 80737197-80754079 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 80739871 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 490 (D490G)
Ref Sequence ENSEMBL: ENSMUSP00000057291 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020440] [ENSMUST00000057623] [ENSMUST00000105332] [ENSMUST00000105333] [ENSMUST00000179022] [ENSMUST00000218481] [ENSMUST00000219896] [ENSMUST00000219817]
AlphaFold P21619
Predicted Effect probably benign
Transcript: ENSMUST00000020440
SMART Domains Protein: ENSMUSP00000020440
Gene: ENSMUSG00000020219

DomainStartEndE-ValueType
low complexity region 2 15 N/A INTRINSIC
Pfam:zf-Tim10_DDP 23 87 4.6e-26 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000057623
AA Change: D490G

PolyPhen 2 Score 0.920 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000057291
Gene: ENSMUSG00000062075
AA Change: D490G

DomainStartEndE-ValueType
Filament 42 398 1.97e-47 SMART
low complexity region 402 422 N/A INTRINSIC
internal_repeat_1 427 442 1.72e-5 PROSPERO
low complexity region 444 458 N/A INTRINSIC
Pfam:LTD 462 575 9.3e-16 PFAM
low complexity region 579 596 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000105332
AA Change: D349G

PolyPhen 2 Score 0.841 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000100969
Gene: ENSMUSG00000062075
AA Change: D349G

DomainStartEndE-ValueType
Pfam:Filament 77 257 1.2e-49 PFAM
low complexity region 261 281 N/A INTRINSIC
Pfam:LTD 317 435 6.7e-23 PFAM
low complexity region 438 455 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000105333
SMART Domains Protein: ENSMUSP00000100970
Gene: ENSMUSG00000059406

DomainStartEndE-ValueType
Pfam:SEA 62 155 1.7e-10 PFAM
LDLa 189 227 1.15e-4 SMART
Tryp_SPc 238 467 2.43e-96 SMART
low complexity region 477 502 N/A INTRINSIC
Tryp_SPc 539 767 7.28e-86 SMART
Tryp_SPc 867 1093 1.62e-92 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000179022
AA Change: D471G

PolyPhen 2 Score 0.498 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000136524
Gene: ENSMUSG00000062075
AA Change: D471G

DomainStartEndE-ValueType
Pfam:Filament 23 379 8.9e-96 PFAM
low complexity region 383 403 N/A INTRINSIC
internal_repeat_1 408 423 1.1e-5 PROSPERO
Pfam:LTD 439 557 1.3e-23 PFAM
low complexity region 560 577 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218149
Predicted Effect probably benign
Transcript: ENSMUST00000218481
Predicted Effect probably benign
Transcript: ENSMUST00000219896
Predicted Effect probably benign
Transcript: ENSMUST00000219817
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a B type nuclear lamin. The nuclear lamina consists of a two-dimensional matrix of proteins located next to the inner nuclear membrane. The lamin family of proteins make up the matrix and are highly conserved in evolution. During mitosis, the lamina matrix is reversibly disassembled as the lamin proteins are phosphorylated. Lamin proteins are thought to be involved in nuclear stability, chromatin structure and gene expression. Vertebrate lamins consist of two types, A and B. Mutations in this gene are associated with acquired partial lipodystrophy. [provided by RefSeq, May 2012]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit neonatal death with abnormal brain development. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930432M17Rik C A 3: 121,473,282 (GRCm39) probably benign Het
Actr2 C A 11: 20,044,370 (GRCm39) V79L probably benign Het
Ankrd36 A C 11: 5,570,131 (GRCm39) Y533S probably benign Het
Btnl1 A T 17: 34,600,091 (GRCm39) D198V probably damaging Het
Carmil2 T A 8: 106,418,038 (GRCm39) I684N probably benign Het
Cdk17 T A 10: 93,062,633 (GRCm39) V257D probably damaging Het
Ctsj T G 13: 61,149,232 (GRCm39) S271R possibly damaging Het
Cul9 T A 17: 46,836,635 (GRCm39) Q1130L probably damaging Het
Daam1 G T 12: 71,988,993 (GRCm39) S131I unknown Het
Dab1 G A 4: 104,536,007 (GRCm39) V139M probably damaging Het
Dab1 A T 4: 104,535,950 (GRCm39) I120F possibly damaging Het
Dnah2 A G 11: 69,383,498 (GRCm39) V1142A possibly damaging Het
Dsg1b C T 18: 20,529,533 (GRCm39) T326I probably damaging Het
Eif3k A C 7: 28,674,101 (GRCm39) probably benign Het
Fam76b T C 9: 13,748,180 (GRCm39) V3A possibly damaging Het
Fitm2 A G 2: 163,311,712 (GRCm39) V167A probably benign Het
Gfap T A 11: 102,779,544 (GRCm39) I418F possibly damaging Het
Grm5 T C 7: 87,779,989 (GRCm39) V1143A probably benign Het
Itpr2 A G 6: 146,298,510 (GRCm39) I317T probably damaging Het
Itprid1 T A 6: 55,945,022 (GRCm39) L581Q possibly damaging Het
Kcnn2 A C 18: 45,725,303 (GRCm39) R266S probably damaging Het
Kntc1 T A 5: 123,928,222 (GRCm39) S1240T probably benign Het
Muc4 G A 16: 32,754,086 (GRCm38) G1321R probably benign Het
Or3a1b A T 11: 74,012,705 (GRCm39) I197F probably benign Het
Pax9 A G 12: 56,746,860 (GRCm39) N232S probably benign Het
Pdcd6ip A G 9: 113,526,586 (GRCm39) S108P possibly damaging Het
Pitpnc1 T C 11: 107,103,469 (GRCm39) E210G possibly damaging Het
Prdm10 T C 9: 31,272,108 (GRCm39) probably benign Het
Prl4a1 G A 13: 28,205,443 (GRCm39) G136E probably damaging Het
Pstpip2 A G 18: 77,961,994 (GRCm39) S255G probably benign Het
Rimbp3 T G 16: 17,027,607 (GRCm39) S344A probably benign Het
Rint1 A G 5: 23,999,429 (GRCm39) T73A probably benign Het
Rnf145 T C 11: 44,446,039 (GRCm39) V291A possibly damaging Het
Rrm1 T A 7: 102,103,714 (GRCm39) L221* probably null Het
Scn11a A G 9: 119,599,572 (GRCm39) L1114P probably benign Het
Slc44a4 A G 17: 35,149,216 (GRCm39) probably benign Het
Sorl1 A C 9: 41,885,390 (GRCm39) N2070K probably damaging Het
Spaca7 C T 8: 12,630,941 (GRCm39) probably benign Het
Speer1k C T 5: 10,997,805 (GRCm39) probably benign Het
Speer4c2 C A 5: 15,861,884 (GRCm39) probably benign Het
Srsf6 G T 2: 162,773,627 (GRCm39) V13F probably damaging Het
Stab1 G T 14: 30,883,314 (GRCm39) T336N probably benign Het
Strbp A G 2: 37,476,516 (GRCm39) probably benign Het
Tbc1d4 A G 14: 101,845,548 (GRCm39) F117L probably damaging Het
Tcf20 A G 15: 82,739,096 (GRCm39) V785A probably damaging Het
Ticrr A G 7: 79,327,031 (GRCm39) K580E probably damaging Het
Ubr4 A T 4: 139,192,633 (GRCm39) E4225D possibly damaging Het
Uck1 A T 2: 32,149,681 (GRCm39) V66D probably damaging Het
Vmn2r25 A G 6: 123,830,130 (GRCm39) F7S probably benign Het
Zan C T 5: 137,386,082 (GRCm39) probably null Het
Zfp819 T A 7: 43,261,403 (GRCm39) probably benign Het
Other mutations in Lmnb2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00908:Lmnb2 APN 10 80,745,821 (GRCm39) missense probably damaging 0.99
IGL01365:Lmnb2 APN 10 80,740,818 (GRCm39) missense probably benign 0.07
IGL01598:Lmnb2 APN 10 80,742,999 (GRCm39) missense probably benign 0.00
R0761:Lmnb2 UTSW 10 80,742,088 (GRCm39) start codon destroyed probably null 0.03
R1143:Lmnb2 UTSW 10 80,740,149 (GRCm39) unclassified probably benign
R1324:Lmnb2 UTSW 10 80,740,005 (GRCm39) missense possibly damaging 0.60
R1763:Lmnb2 UTSW 10 80,743,025 (GRCm39) missense probably damaging 1.00
R2229:Lmnb2 UTSW 10 80,740,226 (GRCm39) unclassified probably benign
R5001:Lmnb2 UTSW 10 80,753,946 (GRCm39) missense probably damaging 0.98
R5053:Lmnb2 UTSW 10 80,740,489 (GRCm39) missense probably damaging 1.00
R5334:Lmnb2 UTSW 10 80,739,791 (GRCm39) missense probably benign 0.08
R5713:Lmnb2 UTSW 10 80,741,921 (GRCm39) missense probably damaging 0.97
R5975:Lmnb2 UTSW 10 80,740,962 (GRCm39) nonsense probably null
R6314:Lmnb2 UTSW 10 80,745,804 (GRCm39) missense probably damaging 1.00
R6835:Lmnb2 UTSW 10 80,745,794 (GRCm39) missense probably damaging 1.00
R7663:Lmnb2 UTSW 10 80,740,573 (GRCm39) missense probably damaging 1.00
R7776:Lmnb2 UTSW 10 80,753,991 (GRCm39) missense possibly damaging 0.52
R8230:Lmnb2 UTSW 10 80,740,982 (GRCm39) missense probably damaging 0.97
R8728:Lmnb2 UTSW 10 80,740,913 (GRCm39) critical splice donor site probably null
R9032:Lmnb2 UTSW 10 80,740,091 (GRCm39) missense probably benign 0.03
R9063:Lmnb2 UTSW 10 80,742,005 (GRCm39) missense probably benign 0.00
R9085:Lmnb2 UTSW 10 80,740,091 (GRCm39) missense probably benign 0.03
Z1176:Lmnb2 UTSW 10 80,739,072 (GRCm39) missense probably damaging 0.99
Posted On 2011-07-12