Incidental Mutation 'R8728:Lmnb2'
ID 662587
Institutional Source Beutler Lab
Gene Symbol Lmnb2
Ensembl Gene ENSMUSG00000062075
Gene Name lamin B2
Synonyms lamin B3
MMRRC Submission 068576-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8728 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 80737197-80754079 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 80740913 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000057291 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020440] [ENSMUST00000057623] [ENSMUST00000105332] [ENSMUST00000179022] [ENSMUST00000218481] [ENSMUST00000219896]
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 null
Transcript: ENSMUST00000057623
SMART Domains Protein: ENSMUSP00000057291
Gene: ENSMUSG00000062075

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 benign
Transcript: ENSMUST00000105332
SMART Domains Protein: ENSMUSP00000100969
Gene: ENSMUSG00000062075

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: ENSMUST00000179022
SMART Domains Protein: ENSMUSP00000136524
Gene: ENSMUSG00000062075

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 probably benign
Transcript: ENSMUST00000218481
Predicted Effect probably benign
Transcript: ENSMUST00000219896
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (67/67)
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam2 A G 14: 66,295,086 (GRCm39) L253P probably damaging Het
Adamts20 C T 15: 94,229,281 (GRCm39) G946D probably benign Het
Afdn A G 17: 14,119,207 (GRCm39) R1648G probably damaging Het
Ak9 G A 10: 41,282,959 (GRCm39) A1242T Het
Anxa9 T C 3: 95,209,979 (GRCm39) K127E probably damaging Het
Atp6v0a2 T C 5: 124,796,152 (GRCm39) S739P probably benign Het
Bloc1s6 A T 2: 122,588,026 (GRCm39) M122L possibly damaging Het
Bltp3b A T 10: 89,618,582 (GRCm39) M274L probably benign Het
Bms1 A G 6: 118,369,331 (GRCm39) I990T possibly damaging Het
Ccdc9b T C 2: 118,587,793 (GRCm39) T514A probably benign Het
Cdk14 G A 5: 5,470,117 (GRCm39) silent Het
Celsr3 T C 9: 108,723,940 (GRCm39) L2899S probably benign Het
Ces1b A T 8: 93,798,576 (GRCm39) D203E probably benign Het
Cnnm1 A G 19: 43,473,365 (GRCm39) N753S probably benign Het
Col19a1 C T 1: 24,365,113 (GRCm39) G501R probably damaging Het
Cym A G 3: 107,125,991 (GRCm39) F91L possibly damaging Het
Cyp2c67 T G 19: 39,614,605 (GRCm39) R307S probably damaging Het
Cyp3a59 G A 5: 146,035,122 (GRCm39) probably null Het
Cyp4a31 G A 4: 115,422,225 (GRCm39) E70K probably benign Het
Dagla G A 19: 10,225,771 (GRCm39) R798C probably damaging Het
Dcaf1 C T 9: 106,724,005 (GRCm39) R478C possibly damaging Het
Dcbld1 T C 10: 52,109,929 (GRCm39) L28P probably benign Het
Ddr2 T C 1: 169,829,552 (GRCm39) D234G possibly damaging Het
Fam83a T A 15: 57,873,062 (GRCm39) M297K possibly damaging Het
Galnt18 T A 7: 111,119,243 (GRCm39) D426V probably damaging Het
Gm43302 T C 5: 105,438,793 (GRCm39) I32V probably benign Het
Gm9944 T C 4: 144,179,601 (GRCm39) Y96C unknown Het
Hdac1-ps A G 17: 78,800,332 (GRCm39) K441R probably benign Het
Impdh2 C T 9: 108,437,562 (GRCm39) probably benign Het
Iws1 G A 18: 32,216,334 (GRCm39) R358Q probably damaging Het
Kctd18 G T 1: 58,002,289 (GRCm39) D179E probably damaging Het
Krt13 T G 11: 100,012,318 (GRCm39) S2R probably null Het
Krt78 A T 15: 101,856,225 (GRCm39) S529T probably benign Het
Krtap4-7 C G 11: 99,534,788 (GRCm39) C25S unknown Het
Lama1 T C 17: 68,125,663 (GRCm39) I2940T Het
Lrrc27 A T 7: 138,822,555 (GRCm39) E482V probably damaging Het
Lrrc72 G A 12: 36,258,656 (GRCm39) T67M probably benign Het
Malrd1 T A 2: 15,701,753 (GRCm39) C789* probably null Het
Mei1 T G 15: 81,966,182 (GRCm39) V268G Het
Mical3 C A 6: 120,950,514 (GRCm39) A966S probably damaging Het
Mmp10 C T 9: 7,502,480 (GRCm39) P29L probably benign Het
Mroh2b T C 15: 4,935,122 (GRCm39) F186L probably damaging Het
Muc4 A T 16: 32,754,952 (GRCm38) T1609S unknown Het
Myrfl A T 10: 116,634,545 (GRCm39) C616* probably null Het
Ncor1 C T 11: 62,221,685 (GRCm39) A946T probably benign Het
Or10al6 C A 17: 38,082,642 (GRCm39) L33M probably damaging Het
Or2t48 T C 11: 58,420,027 (GRCm39) T262A probably benign Het
Pbp2 T C 6: 135,287,104 (GRCm39) Y81C probably benign Het
Plekhh1 C A 12: 79,115,862 (GRCm39) Q802K possibly damaging Het
Pnldc1 A T 17: 13,116,165 (GRCm39) F279Y probably damaging Het
Psmb5 A T 14: 54,855,261 (GRCm39) L63Q probably damaging Het
Rasa3 C T 8: 13,636,873 (GRCm39) probably null Het
Rbm4b G A 19: 4,812,219 (GRCm39) M209I probably benign Het
Rnf38 A G 4: 44,131,615 (GRCm39) S421P probably benign Het
Sema5a T C 15: 32,562,703 (GRCm39) V238A probably damaging Het
Sesn1 G T 10: 41,779,771 (GRCm39) G402W probably damaging Het
Six4 A G 12: 73,159,180 (GRCm39) V260A probably benign Het
Srrm2 G A 17: 24,038,831 (GRCm39) R1825Q unknown Het
Stat1 G A 1: 52,178,353 (GRCm39) W262* probably null Het
Tcf20 A T 15: 82,739,158 (GRCm39) D764E probably damaging Het
Tgm2 T C 2: 157,962,065 (GRCm39) N585D probably benign Het
Tmf1 A T 6: 97,133,821 (GRCm39) L1039H probably damaging Het
Trak2 A G 1: 58,974,934 (GRCm39) V86A probably benign Het
Ttc39b A G 4: 83,171,247 (GRCm39) I202T probably damaging Het
Vmn1r30 A G 6: 58,412,460 (GRCm39) F124S probably benign Het
Vwa7 T A 17: 35,236,133 (GRCm39) F29Y probably damaging Het
Wdr64 A T 1: 175,559,079 (GRCm39) M281L probably benign Het
Zfand2a C T 5: 139,467,753 (GRCm39) V40M possibly damaging Het
Zfp865 G C 7: 5,034,819 (GRCm39) A935P probably 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
R8230:Lmnb2 UTSW 10 80,740,982 (GRCm39) missense probably damaging 0.97
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 2021-03-08