Incidental Mutation 'R8230:Lmnb2'
ID 637110
Institutional Source Beutler Lab
Gene Symbol Lmnb2
Ensembl Gene ENSMUSG00000062075
Gene Name lamin B2
Synonyms lamin B3
MMRRC Submission 067662-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8230 (G1)
Quality Score 225.009
Status Not validated
Chromosome 10
Chromosomal Location 80737197-80754079 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 80740982 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 260 (L260Q)
Ref Sequence ENSEMBL: ENSMUSP00000057291 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020440] [ENSMUST00000057623] [ENSMUST00000105332] [ENSMUST00000179022]
AlphaFold P21619
Predicted Effect probably benign
Transcript: ENSMUST00000020440
SMART Domains Protein: ENSMUSP00000020440
Gene: ENSMUSG00000020219

low complexity region 2 15 N/A INTRINSIC
Pfam:zf-Tim10_DDP 23 87 4.6e-26 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000057623
AA Change: L260Q

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000057291
Gene: ENSMUSG00000062075
AA Change: L260Q

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 probably damaging
Transcript: ENSMUST00000105332
AA Change: L119Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000100969
Gene: ENSMUSG00000062075
AA Change: L119Q

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 damaging
Transcript: ENSMUST00000179022
AA Change: L241Q

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000136524
Gene: ENSMUSG00000062075
AA Change: L241Q

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 99.5%
  • 20x: 98.9%
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aaas A G 15: 102,246,904 (GRCm39) Y485H probably benign Het
Actl7a T A 4: 56,743,768 (GRCm39) H98Q probably damaging Het
Adam15 G A 3: 89,252,917 (GRCm39) T267I probably benign Het
Ankrd17 T C 5: 90,391,835 (GRCm39) H1945R possibly damaging Het
Baiap3 A G 17: 25,465,827 (GRCm39) I585T probably benign Het
Bcl6 T C 16: 23,791,652 (GRCm39) D234G probably damaging Het
Cbx3 T C 6: 51,452,281 (GRCm39) V32A probably damaging Het
Ccdc127 T C 13: 74,508,751 (GRCm39) F50S unknown Het
Ccdc15 T C 9: 37,226,555 (GRCm39) E473G probably benign Het
Clasp2 A G 9: 113,721,482 (GRCm39) D763G possibly damaging Het
Dab2 T A 15: 6,451,824 (GRCm39) F147I probably damaging Het
Dcaf1 G A 9: 106,735,914 (GRCm39) G954D probably damaging Het
Etv1 T C 12: 38,830,935 (GRCm39) M1T probably null Het
F2r T A 13: 95,741,247 (GRCm39) D96V possibly damaging Het
Fancm A G 12: 65,149,424 (GRCm39) D730G probably benign Het
Fbf1 T C 11: 116,037,565 (GRCm39) I892V probably benign Het
Gbp8 T C 5: 105,198,735 (GRCm39) N60S probably benign Het
Gm12790 T C 4: 101,825,280 (GRCm39) I45V probably benign Het
Herc1 G A 9: 66,377,598 (GRCm39) V3455I probably damaging Het
Hic1 T C 11: 75,056,411 (GRCm39) D826G possibly damaging Het
Hmcn2 A G 2: 31,234,485 (GRCm39) Y300C possibly damaging Het
Ifit1 A G 19: 34,625,068 (GRCm39) Q68R probably benign Het
Igdcc4 A G 9: 65,030,020 (GRCm39) Y309C probably damaging Het
Itpr3 T C 17: 27,326,711 (GRCm39) probably null Het
Kat7 T C 11: 95,168,415 (GRCm39) K414E probably damaging Het
Mapk1 T C 16: 16,843,930 (GRCm39) I215T noncoding transcript Het
Ntpcr G T 8: 126,464,159 (GRCm39) probably null Het
Ntrk3 C A 7: 77,900,518 (GRCm39) C607F probably damaging Het
Or10ag54 A T 2: 87,099,545 (GRCm39) H119L probably benign Het
Or56a4 A G 7: 104,806,631 (GRCm39) I86T probably damaging Het
Or5w13 T A 2: 87,523,705 (GRCm39) I174F probably damaging Het
Pcdh15 T C 10: 74,191,707 (GRCm39) V601A probably damaging Het
Plagl2 A G 2: 153,074,239 (GRCm39) C221R probably damaging Het
Shf A G 2: 122,179,968 (GRCm39) Y195H probably damaging Het
Tapbpl T A 6: 125,203,684 (GRCm39) Y332F probably damaging Het
Tbx15 G T 3: 99,259,305 (GRCm39) C392F probably damaging Het
Ubxn7 T C 16: 32,194,094 (GRCm39) L222P probably benign Het
Vsig8 A T 1: 172,389,078 (GRCm39) D222V probably damaging Het
Xirp2 A G 2: 67,346,009 (GRCm39) E2750G probably damaging Het
Zfp870 A G 17: 33,102,663 (GRCm39) V222A possibly damaging Het
Other mutations in Lmnb2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00087:Lmnb2 APN 10 80,739,871 (GRCm39) missense possibly damaging 0.92
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
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
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2020-07-13