Incidental Mutation 'R2229:Lmnb2'
ID 239615
Institutional Source Beutler Lab
Gene Symbol Lmnb2
Ensembl Gene ENSMUSG00000062075
Gene Name lamin B2
Synonyms lamin B3
MMRRC Submission 040230-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2229 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 80737197-80754079 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) T to C at 80740226 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000151696 (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

low complexity region 2 15 N/A INTRINSIC
Pfam:zf-Tim10_DDP 23 87 4.6e-26 PFAM
Predicted Effect probably benign
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: ENSMUST00000105333
SMART Domains Protein: ENSMUSP00000100970
Gene: ENSMUSG00000059406

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 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 noncoding transcript
Transcript: ENSMUST00000218149
Predicted Effect probably benign
Transcript: ENSMUST00000218481
Predicted Effect probably benign
Transcript: ENSMUST00000219896
Predicted Effect probably benign
Transcript: ENSMUST00000219817
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
Validation Efficiency 99% (78/79)
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam24 A T 8: 41,133,404 (GRCm39) I291L probably benign Het
Adcy8 C A 15: 64,694,056 (GRCm39) R407L possibly damaging Het
Adgb A T 10: 10,311,795 (GRCm39) V212E probably damaging Het
Adgrg7 C T 16: 56,572,766 (GRCm39) S350N probably benign Het
Agbl1 A G 7: 76,083,126 (GRCm39) T448A probably benign Het
Aldh1l1 C G 6: 90,560,168 (GRCm39) T605R probably damaging Het
Arfip1 A T 3: 84,455,280 (GRCm39) N18K probably damaging Het
Atp6v1b2 C A 8: 69,555,411 (GRCm39) probably null Het
Banp G A 8: 122,705,424 (GRCm39) S98N probably damaging Het
Btnl9 T C 11: 49,059,945 (GRCm39) D601G probably damaging Het
C9 T C 15: 6,474,901 (GRCm39) I20T possibly damaging Het
Cacna1b A G 2: 24,575,816 (GRCm39) V744A probably damaging Het
Catsper3 A G 13: 55,955,867 (GRCm39) E311G probably damaging Het
Ccdc180 G T 4: 45,948,856 (GRCm39) probably null Het
Cdc5l A G 17: 45,718,772 (GRCm39) Y615H probably benign Het
Crybg2 TGGAGGAGGAGGAGGAGGAG TGGAGGAGGAGGAGGAG 4: 133,801,837 (GRCm39) probably benign Het
Eml4 C T 17: 83,758,485 (GRCm39) P502S probably benign Het
Fsip1 T C 2: 118,052,925 (GRCm39) E367G probably benign Het
Gja3 T C 14: 57,274,171 (GRCm39) D67G probably damaging Het
Gm4894 T C 9: 49,185,490 (GRCm39) probably benign Het
Gm7853 A G 14: 35,811,484 (GRCm39) noncoding transcript Het
Gmps T G 3: 63,921,684 (GRCm39) Y562* probably null Het
Golga2 C A 2: 32,196,477 (GRCm39) P976T probably benign Het
Gpr182 T A 10: 127,586,010 (GRCm39) I314F possibly damaging Het
Gprc6a A G 10: 51,502,891 (GRCm39) V324A possibly damaging Het
Gykl1 A G 18: 52,828,339 (GRCm39) T516A probably benign Het
H2ac21 T C 3: 96,127,422 (GRCm39) L64P possibly damaging Het
Ifit1bl2 G T 19: 34,596,630 (GRCm39) L329M possibly damaging Het
Igsf9b T C 9: 27,244,792 (GRCm39) S920P probably damaging Het
Kif3c T A 12: 3,416,671 (GRCm39) S231T probably benign Het
Kpna7 A T 5: 144,926,507 (GRCm39) Y482N probably damaging Het
Lrrc69 T C 4: 14,773,694 (GRCm39) S121G probably benign Het
Mppe1 A G 18: 67,361,082 (GRCm39) probably null Het
Muc5b T A 7: 141,415,381 (GRCm39) C2776S possibly damaging Het
Myh8 T G 11: 67,199,174 (GRCm39) N1893K probably damaging Het
Myo7a T C 7: 97,704,117 (GRCm39) T1932A probably benign Het
Nbn A G 4: 15,970,904 (GRCm39) T296A probably benign Het
Nckap1l T C 15: 103,364,361 (GRCm39) probably null Het
Nek5 A T 8: 22,603,648 (GRCm39) N151K possibly damaging Het
Nup93 C T 8: 95,030,819 (GRCm39) T305I probably benign Het
Oca2 T A 7: 56,006,903 (GRCm39) H663Q probably benign Het
Optn T A 2: 5,028,928 (GRCm39) H525L probably damaging Het
Pdzph1 A G 17: 59,239,407 (GRCm39) probably benign Het
Pikfyve A G 1: 65,307,014 (GRCm39) K1801E probably damaging Het
Pkd2l2 G A 18: 34,563,382 (GRCm39) V478M probably damaging Het
Pmepa1 G A 2: 173,069,926 (GRCm39) R210W probably damaging Het
Ppp1r3c C A 19: 36,711,098 (GRCm39) R224L probably benign Het
Prpf19 A G 19: 10,874,962 (GRCm39) T39A probably benign Het
Pwwp2b T C 7: 138,835,104 (GRCm39) C182R probably damaging Het
Rcan3 T C 4: 135,152,688 (GRCm39) D11G probably benign Het
Rgsl1 C A 1: 153,698,104 (GRCm39) W482L possibly damaging Het
Sfxn4 C T 19: 60,839,458 (GRCm39) G200E probably damaging Het
Slc4a8 T C 15: 100,707,180 (GRCm39) I848T probably damaging Het
Slc7a13 T C 4: 19,839,399 (GRCm39) V334A probably benign Het
Smarcc2 A G 10: 128,324,210 (GRCm39) probably benign Het
Spata18 A T 5: 73,824,244 (GRCm39) I156L possibly damaging Het
Spats2 T C 15: 99,072,334 (GRCm39) probably null Het
Tas2r104 G A 6: 131,662,095 (GRCm39) H205Y probably damaging Het
Tcof1 A G 18: 60,965,249 (GRCm39) probably benign Het
Tex15 C A 8: 34,061,265 (GRCm39) H232N probably benign Het
Tg A T 15: 66,545,860 (GRCm39) Q194L probably damaging Het
Tnfrsf22 C T 7: 143,198,513 (GRCm39) probably null Het
Trim25 T A 11: 88,907,447 (GRCm39) V602E probably damaging Het
Ttll9 A G 2: 152,824,983 (GRCm39) E54G probably damaging Het
Ttn T C 2: 76,559,668 (GRCm39) T29578A probably damaging Het
Tubgcp5 A G 7: 55,480,629 (GRCm39) Q960R probably damaging Het
Ugcg C T 4: 59,207,798 (GRCm39) P46S probably benign Het
Usp13 A G 3: 32,971,700 (GRCm39) I727V probably benign Het
Vmn2r67 T A 7: 84,801,250 (GRCm39) I229F probably benign Het
Vmn2r92 A C 17: 18,387,654 (GRCm39) I220L probably benign Het
Wnk4 T A 11: 101,166,467 (GRCm39) probably benign Het
Wwp1 A T 4: 19,641,745 (GRCm39) Y437N probably damaging Het
Zdhhc5 A G 2: 84,520,557 (GRCm39) I540T probably damaging Het
Zfp729b T C 13: 67,743,384 (GRCm39) I60M 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
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
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2014-10-15