Incidental Mutation 'R7342:Lbr'
ID 569908
Institutional Source Beutler Lab
Gene Symbol Lbr
Ensembl Gene ENSMUSG00000004880
Gene Name lamin B receptor
Synonyms
MMRRC Submission 045432-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.923) question?
Stock # R7342 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 181642880-181669966 bp(-) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) C to T at 181653186 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000005003 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005003]
AlphaFold Q3U9G9
Predicted Effect probably null
Transcript: ENSMUST00000005003
SMART Domains Protein: ENSMUSP00000005003
Gene: ENSMUSG00000004880

DomainStartEndE-ValueType
TUDOR 4 62 6.7e-9 SMART
low complexity region 63 101 N/A INTRINSIC
low complexity region 111 121 N/A INTRINSIC
Pfam:ERG4_ERG24 194 626 4.6e-161 PFAM
Pfam:DUF1295 452 617 1.1e-9 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000194415
Meta Mutation Damage Score 0.9582 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the ERG4/ERG24 family. It localized in the nuclear envelope inner membrane and anchors the lamina and the heterochromatin to the membrane. It may mediate interaction between chromatin and lamin B. Mutations of this gene has been associated with autosomal recessive HEM/Greenberg skeletal dysplasia. Alternative splicing occurs at this locus and two transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mutations in this gene result in abnormal skin and hair and impair growth. [provided by MGI curators]
Allele List at MGI

All alleles(23) : Gene trapped(17) Spontaneous(6)

Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aarsd1 T G 11: 101,308,018 (GRCm39) T28P probably benign Het
Abcc1 C A 16: 14,283,033 (GRCm39) R1170S probably damaging Het
Adam8 T C 7: 139,566,304 (GRCm39) N568S probably benign Het
Arhgap17 T C 7: 122,926,467 (GRCm39) R65G probably damaging Het
Arid4b A C 13: 14,310,804 (GRCm39) I136L probably benign Het
Ash1l G T 3: 88,873,304 (GRCm39) G29V possibly damaging Het
Atp6v0a2 A G 5: 124,784,676 (GRCm39) T320A probably damaging Het
B4gat1 G A 19: 5,089,686 (GRCm39) V228M probably benign Het
Calcr T A 6: 3,691,536 (GRCm39) H450L probably benign Het
Cand1 A T 10: 119,047,692 (GRCm39) N599K possibly damaging Het
Cblif A T 19: 11,740,587 (GRCm39) H407L probably benign Het
Cel A T 2: 28,450,649 (GRCm39) Y125* probably null Het
Cfi T A 3: 129,668,781 (GRCm39) N602K probably damaging Het
Clstn1 G A 4: 149,713,887 (GRCm39) A190T probably damaging Het
Cmklr1 C T 5: 113,752,354 (GRCm39) V216M probably benign Het
Cntnap5a A G 1: 115,987,852 (GRCm39) T128A probably benign Het
Creld2 A G 15: 88,710,610 (GRCm39) T342A probably benign Het
Ctbp2 T C 7: 132,616,041 (GRCm39) E298G probably damaging Het
Ctsh A T 9: 89,957,040 (GRCm39) E307V probably benign Het
Cxcl10 T A 5: 92,496,029 (GRCm39) D36V probably benign Het
Dgkb A G 12: 38,150,432 (GRCm39) T73A probably benign Het
Dnah3 T G 7: 119,629,208 (GRCm39) E1449A probably damaging Het
Dpp6 T C 5: 27,919,552 (GRCm39) M683T probably benign Het
Foxn4 C A 5: 114,396,760 (GRCm39) W241L probably damaging Het
Gosr1 T C 11: 76,621,033 (GRCm39) I219V probably benign Het
Gtf2f2 T C 14: 76,144,317 (GRCm39) D179G probably damaging Het
Ighg2b A G 12: 113,270,050 (GRCm39) Y323H Het
Itpr2 A T 6: 146,228,685 (GRCm39) H1303Q probably damaging Het
Kif1b A C 4: 149,298,547 (GRCm39) Y1040D possibly damaging Het
Lrp2 A G 2: 69,309,634 (GRCm39) V2755A possibly damaging Het
Lrp6 G T 6: 134,427,781 (GRCm39) P1604T probably damaging Het
Lrrcc1 T A 3: 14,619,431 (GRCm39) C606S probably benign Het
Macf1 T C 4: 123,275,917 (GRCm39) E6217G probably damaging Het
Ms4a6d G A 19: 11,567,437 (GRCm39) Q155* probably null Het
Myo9b T C 8: 71,808,418 (GRCm39) V1687A probably damaging Het
Naip2 A T 13: 100,325,864 (GRCm39) F15I probably benign Het
Neb A T 2: 52,171,679 (GRCm39) S1605T probably damaging Het
Nuak1 T C 10: 84,210,831 (GRCm39) E419G probably damaging Het
Or14a260 G A 7: 85,985,295 (GRCm39) T103I probably benign Het
Or8c18 A G 9: 38,203,574 (GRCm39) Y111C probably damaging Het
Paip2b T A 6: 83,791,808 (GRCm39) S25C probably damaging Het
Pgbd5 G A 8: 125,160,709 (GRCm39) R53C probably benign Het
Plin4 T C 17: 56,411,608 (GRCm39) T808A probably benign Het
Pramel11 A T 4: 143,623,520 (GRCm39) I218K probably benign Het
Prex2 A G 1: 11,232,549 (GRCm39) D872G probably benign Het
Ptf1a A G 2: 19,451,977 (GRCm39) *325W probably null Het
Ptprg T C 14: 12,237,151 (GRCm38) V1390A possibly damaging Het
Rhpn2 A G 7: 35,033,771 (GRCm39) T2A probably damaging Het
Rpl18a T C 8: 71,348,042 (GRCm39) N214D unknown Het
Scp2 T A 4: 107,948,518 (GRCm39) Y197F probably benign Het
Sftpb G A 6: 72,286,858 (GRCm39) R254H probably benign Het
Slc17a9 T C 2: 180,378,555 (GRCm39) L246P probably damaging Het
Slc38a9 G T 13: 112,806,125 (GRCm39) probably benign Het
Slc4a1ap C T 5: 31,693,634 (GRCm39) L523F possibly damaging Het
Spats2l C A 1: 57,925,106 (GRCm39) T168K possibly damaging Het
Sstr1 A G 12: 58,260,456 (GRCm39) S360G possibly damaging Het
Taf1b A T 12: 24,608,343 (GRCm39) K581* probably null Het
Tfip11 T A 5: 112,475,838 (GRCm39) M1K probably null Het
Tgoln1 G C 6: 72,593,261 (GRCm39) T73R probably benign Het
Ttc23l G A 15: 10,551,583 (GRCm39) H48Y probably benign Het
Uggt2 T A 14: 119,232,384 (GRCm39) H1489L possibly damaging Het
Unc13b T C 4: 43,258,703 (GRCm39) L1346P probably damaging Het
Vmac T C 17: 57,022,644 (GRCm39) E122G probably benign Het
Vmn2r125 T C 4: 156,703,138 (GRCm39) V172A probably damaging Het
Zfp54 A G 17: 21,648,014 (GRCm39) probably benign Het
Other mutations in Lbr
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01585:Lbr APN 1 181,653,208 (GRCm39) nonsense probably null
IGL01680:Lbr APN 1 181,663,759 (GRCm39) missense probably damaging 1.00
IGL02738:Lbr APN 1 181,659,778 (GRCm39) missense probably benign 0.16
IGL03048:Lbr APN 1 181,666,109 (GRCm39) utr 5 prime probably benign
IGL03227:Lbr APN 1 181,663,620 (GRCm39) splice site probably null
IGL03337:Lbr APN 1 181,659,788 (GRCm39) missense possibly damaging 0.92
Aconcagua UTSW 1 181,656,467 (GRCm39) missense probably benign 0.02
kosciuszko UTSW 1 181,653,186 (GRCm39) critical splice donor site probably null
Mont_blanc UTSW 1 181,648,267 (GRCm39) missense probably damaging 1.00
seven UTSW 1 181,659,778 (GRCm39) missense probably benign 0.16
Strzelecki UTSW 1 181,644,571 (GRCm39) missense possibly damaging 0.85
thredbo UTSW 1 181,645,086 (GRCm39) missense probably damaging 1.00
1mM(1):Lbr UTSW 1 181,659,244 (GRCm39) missense possibly damaging 0.65
H8562:Lbr UTSW 1 181,648,233 (GRCm39) splice site probably benign
IGL02991:Lbr UTSW 1 181,649,117 (GRCm39) missense probably damaging 1.00
R0597:Lbr UTSW 1 181,659,778 (GRCm39) missense probably benign 0.16
R1118:Lbr UTSW 1 181,648,233 (GRCm39) splice site probably benign
R1727:Lbr UTSW 1 181,647,481 (GRCm39) missense probably benign 0.01
R2566:Lbr UTSW 1 181,663,692 (GRCm39) missense probably damaging 0.96
R3699:Lbr UTSW 1 181,646,485 (GRCm39) missense probably damaging 1.00
R3854:Lbr UTSW 1 181,659,280 (GRCm39) missense probably benign 0.05
R4290:Lbr UTSW 1 181,648,267 (GRCm39) missense probably damaging 1.00
R4292:Lbr UTSW 1 181,648,267 (GRCm39) missense probably damaging 1.00
R4293:Lbr UTSW 1 181,648,267 (GRCm39) missense probably damaging 1.00
R4294:Lbr UTSW 1 181,648,267 (GRCm39) missense probably damaging 1.00
R4295:Lbr UTSW 1 181,648,267 (GRCm39) missense probably damaging 1.00
R4771:Lbr UTSW 1 181,665,986 (GRCm39) missense probably damaging 1.00
R4890:Lbr UTSW 1 181,645,133 (GRCm39) missense probably benign 0.10
R5011:Lbr UTSW 1 181,647,453 (GRCm39) nonsense probably null
R5402:Lbr UTSW 1 181,647,526 (GRCm39) missense probably benign 0.00
R5486:Lbr UTSW 1 181,646,403 (GRCm39) critical splice donor site probably null
R5617:Lbr UTSW 1 181,656,467 (GRCm39) missense probably benign 0.02
R5630:Lbr UTSW 1 181,644,529 (GRCm39) splice site probably null
R6360:Lbr UTSW 1 181,659,720 (GRCm39) missense probably benign 0.00
R6575:Lbr UTSW 1 181,663,763 (GRCm39) missense probably damaging 1.00
R7069:Lbr UTSW 1 181,656,354 (GRCm39) missense probably damaging 1.00
R7590:Lbr UTSW 1 181,649,076 (GRCm39) missense probably damaging 1.00
R7686:Lbr UTSW 1 181,645,086 (GRCm39) missense probably damaging 1.00
R8477:Lbr UTSW 1 181,644,539 (GRCm39) missense possibly damaging 0.60
R8742:Lbr UTSW 1 181,644,571 (GRCm39) missense possibly damaging 0.85
R8838:Lbr UTSW 1 181,648,294 (GRCm39) missense possibly damaging 0.74
R8998:Lbr UTSW 1 181,646,512 (GRCm39) missense probably damaging 1.00
R8999:Lbr UTSW 1 181,646,512 (GRCm39) missense probably damaging 1.00
R9040:Lbr UTSW 1 181,644,910 (GRCm39) missense probably damaging 1.00
R9059:Lbr UTSW 1 181,645,119 (GRCm39) missense
R9111:Lbr UTSW 1 181,645,068 (GRCm39) missense possibly damaging 0.94
R9195:Lbr UTSW 1 181,663,837 (GRCm39) missense probably benign 0.00
R9709:Lbr UTSW 1 181,666,034 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GGTGACATGGTGATGCCTTATCT -3'
(R):5'- TTAAAGGTGTGTGAGTGTCGTGC -3'

Sequencing Primer
(F):5'- TGATGCCTTATCTCAAAGTA -3'
(R):5'- TGCCACACACCTTTAATCCC -3'
Posted On 2019-09-13