Incidental Mutation 'R2566:Lbr'
ID 254436
Institutional Source Beutler Lab
Gene Symbol Lbr
Ensembl Gene ENSMUSG00000004880
Gene Name lamin B receptor
Synonyms
MMRRC Submission 040425-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.923) question?
Stock # R2566 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 181642880-181669966 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 181663692 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 109 (D109E)
Ref Sequence ENSEMBL: ENSMUSP00000141335 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005003] [ENSMUST00000191878] [ENSMUST00000193028] [ENSMUST00000193030] [ENSMUST00000195299]
AlphaFold Q3U9G9
Predicted Effect probably benign
Transcript: ENSMUST00000005003
AA Change: D109E

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000005003
Gene: ENSMUSG00000004880
AA Change: D109E

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 noncoding transcript
Transcript: ENSMUST00000158804
Predicted Effect unknown
Transcript: ENSMUST00000191878
AA Change: D109E
SMART Domains Protein: ENSMUSP00000142133
Gene: ENSMUSG00000004880
AA Change: D109E

DomainStartEndE-ValueType
TUDOR 4 62 4.1e-11 SMART
low complexity region 63 101 N/A INTRINSIC
low complexity region 111 121 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000193028
Predicted Effect probably damaging
Transcript: ENSMUST00000193030
AA Change: D109E

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000141335
Gene: ENSMUSG00000004880
AA Change: D109E

DomainStartEndE-ValueType
TUDOR 4 62 4.1e-11 SMART
low complexity region 63 101 N/A INTRINSIC
low complexity region 111 121 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000195299
SMART Domains Protein: ENSMUSP00000142167
Gene: ENSMUSG00000004880

DomainStartEndE-ValueType
TUDOR 4 62 4.1e-11 SMART
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.2%
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010315B03Rik T C 9: 124,055,701 (GRCm39) K408E probably damaging Het
2010315B03Rik T A 9: 124,055,783 (GRCm39) K380N probably damaging Het
9230104M06Rik C T 12: 112,964,359 (GRCm39) probably benign Het
Ahi1 T A 10: 20,846,810 (GRCm39) C413* probably null Het
Alms1 T A 6: 85,599,464 (GRCm39) M1430K possibly damaging Het
Ankrd52 G T 10: 128,225,220 (GRCm39) A894S probably benign Het
Arhgap33 C A 7: 30,226,654 (GRCm39) V494L probably damaging Het
Atic G T 1: 71,608,130 (GRCm39) V275F probably damaging Het
Atoh1 T A 6: 64,706,668 (GRCm39) V121E probably damaging Het
Atp5pd T A 11: 115,306,864 (GRCm39) probably null Het
Baiap2l2 A T 15: 79,146,174 (GRCm39) probably null Het
Brca2 A T 5: 150,465,227 (GRCm39) T1664S probably benign Het
Cdh15 G A 8: 123,588,763 (GRCm39) R279Q probably damaging Het
Celf3 ACAGCAGCAGCAGCAGCAGCAGCA ACAGCAGCAGCAGCAGCAGCA 3: 94,395,537 (GRCm39) probably benign Het
Cep350 A T 1: 155,835,464 (GRCm39) probably null Het
Ces2g T C 8: 105,692,621 (GRCm39) probably null Het
Csmd3 CCTTTGCGCTT CCTT 15: 47,604,632 (GRCm39) probably null Het
Cyp2d34 A G 15: 82,500,368 (GRCm39) F457S probably damaging Het
Disp3 T A 4: 148,325,880 (GRCm39) T1293S probably damaging Het
Dock10 T A 1: 80,517,970 (GRCm39) I1348F possibly damaging Het
Dsp A T 13: 38,380,380 (GRCm39) H1776L probably damaging Het
Efhd1 A T 1: 87,237,477 (GRCm39) Q228L possibly damaging Het
Entpd2 T A 2: 25,289,295 (GRCm39) I259N probably benign Het
Fam149b A T 14: 20,425,578 (GRCm39) M138L probably damaging Het
Fastkd5 T C 2: 130,458,285 (GRCm39) K102E probably benign Het
Fzd7 C A 1: 59,523,695 (GRCm39) T526K possibly damaging Het
G6pd2 T A 5: 61,966,330 (GRCm39) I35N probably damaging Het
Gars1 T A 6: 55,042,548 (GRCm39) M427K probably damaging Het
Gimap4 C T 6: 48,667,799 (GRCm39) R57C probably damaging Het
Gm11232 C A 4: 71,676,022 (GRCm39) W41L probably benign Het
Gm15737 T A 6: 92,856,701 (GRCm39) C43* probably null Het
Gpr180 T C 14: 118,377,185 (GRCm39) V62A probably benign Het
H2-M11 C T 17: 36,859,042 (GRCm39) T194I possibly damaging Het
Jakmip3 A T 7: 138,591,197 (GRCm39) E27V possibly damaging Het
Kcnq3 T C 15: 65,903,276 (GRCm39) T145A probably damaging Het
Krt8 A G 15: 101,906,459 (GRCm39) M350T probably benign Het
Krtap4-9 T A 11: 99,676,492 (GRCm39) probably benign Het
Ldc1 A T 4: 130,103,681 (GRCm39) L420Q probably benign Het
Med23 A G 10: 24,764,473 (GRCm39) H42R probably damaging Het
Mgat5 A T 1: 127,234,741 (GRCm39) M77L probably benign Het
Mlf1 A T 3: 67,291,919 (GRCm39) N28I possibly damaging Het
Mroh3 A C 1: 136,125,864 (GRCm39) L343R probably damaging Het
Mrpl37 T A 4: 106,921,690 (GRCm39) I180F possibly damaging Het
Mrps27 T A 13: 99,536,836 (GRCm39) C116* probably null Het
Muc6 A G 7: 141,226,651 (GRCm39) S1354P possibly damaging Het
Myh7 A T 14: 55,220,699 (GRCm39) D1033E probably damaging Het
Myo16 A T 8: 10,644,820 (GRCm39) E1717D probably benign Het
Myo1g T A 11: 6,462,539 (GRCm39) probably null Het
Or51ag1 A G 7: 103,155,367 (GRCm39) M262T probably benign Het
Or6c217 A C 10: 129,737,964 (GRCm39) L205R probably damaging Het
Pan2 T C 10: 128,149,766 (GRCm39) L576P probably damaging Het
Parp8 A G 13: 117,032,223 (GRCm39) S278P possibly damaging Het
Pdk2 A G 11: 94,918,028 (GRCm39) probably null Het
Phf1 T C 17: 27,156,062 (GRCm39) S450P probably damaging Het
Pkd1l2 T C 8: 117,746,233 (GRCm39) Y1919C probably damaging Het
Postn T A 3: 54,284,374 (GRCm39) S614T probably damaging Het
Psmg1 A T 16: 95,783,395 (GRCm39) Y213* probably null Het
Rab11b T A 17: 33,966,692 (GRCm39) T203S probably benign Het
Rad54l2 T A 9: 106,580,825 (GRCm39) T899S possibly damaging Het
Ramp2 TTGCTGCTGCTGCTGCTGCTGCTG TTGCTGCTGCTGCTGCTGCTG 11: 101,137,371 (GRCm39) probably benign Het
Rapgef6 A G 11: 54,578,537 (GRCm39) T1028A possibly damaging Het
Rbm6 A G 9: 107,669,197 (GRCm39) S58P possibly damaging Het
Rreb1 G T 13: 38,113,768 (GRCm39) A376S possibly damaging Het
Rsbn1l T A 5: 21,124,767 (GRCm39) N345I probably benign Het
Sf3b2 A T 19: 5,325,118 (GRCm39) S785T possibly damaging Het
Sh2b1 C T 7: 126,068,098 (GRCm39) D519N probably damaging Het
Slitrk6 T C 14: 110,987,704 (GRCm39) T668A probably benign Het
Stkld1 T A 2: 26,840,650 (GRCm39) I444N probably damaging Het
Sucla2 A T 14: 73,790,244 (GRCm39) probably benign Het
Tmem67 T A 4: 12,079,918 (GRCm39) L190F probably damaging Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Trem2 G A 17: 48,658,863 (GRCm39) W191* probably null Het
Ube2d4 A T 15: 58,718,528 (GRCm39) noncoding transcript Het
Uimc1 G T 13: 55,223,617 (GRCm39) D218E probably damaging Het
Wdr62 A T 7: 29,973,424 (GRCm39) V95E probably damaging Het
Zfhx4 T C 3: 5,310,203 (GRCm39) V862A probably damaging Het
Zfp462 T A 4: 55,008,522 (GRCm39) S163T probably benign Het
Zfp704 T C 3: 9,674,553 (GRCm39) D76G unknown 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
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
R7342:Lbr UTSW 1 181,653,186 (GRCm39) critical splice donor site probably null
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'- GACGGACACATATACTGAAAATGAA -3'
(R):5'- CTGATGACATCTCTGTGCCCT -3'

Sequencing Primer
(F):5'- CTGGCCTAGTCAGTCATCAATGG -3'
(R):5'- ATGACATCTCTGTGCCCTTTCCC -3'
Posted On 2014-12-04