Incidental Mutation 'R9054:Lemd2'
ID 723584
Institutional Source Beutler Lab
Gene Symbol Lemd2
Ensembl Gene ENSMUSG00000044857
Gene Name LEM domain containing 2
Synonyms NET25, Lem2
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9054 (G1)
Quality Score 69.0074
Status Validated
Chromosome 17
Chromosomal Location 27189601-27204438 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to T at 27204095 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 108 (D108E)
Ref Sequence ENSEMBL: ENSMUSP00000058221 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055117]
AlphaFold Q6DVA0
Predicted Effect probably benign
Transcript: ENSMUST00000055117
AA Change: D108E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000058221
Gene: ENSMUSG00000044857
AA Change: D108E

DomainStartEndE-ValueType
LEM 1 42 2.19e-16 SMART
low complexity region 65 86 N/A INTRINSIC
low complexity region 91 112 N/A INTRINSIC
low complexity region 172 183 N/A INTRINSIC
transmembrane domain 221 239 N/A INTRINSIC
Pfam:MSC 251 503 7.3e-21 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 98% (51/52)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a LEM domain-containing transmembrane protein of the inner nuclear membrane. The protein is involved in nuclear structure organization and plays a role in cell signaling and differentiation. Mutations in this gene result in Cataract 46, juvenile-onset. Multiple transcript variants have been found for this gene. [provided by RefSeq, Feb 2017]
PHENOTYPE: Homozygotes for a gene-trapped allele die by E11.5 exhibiting reduced embryo size and cell density in neural tissue and mesenchyme, underdeveloped cardiac and neural tissue, and hyperactivation of MAPK and AKT signaling. Heterozygotes show a modest delayin cardiotoxin-induced muscle regeneration. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankef1 T A 2: 136,553,674 D641E probably benign Het
Anln A G 9: 22,360,820 probably null Het
Areg A T 5: 91,144,358 E172D probably damaging Het
Ccdc51 A T 9: 109,089,414 T24S probably benign Het
Cckar A T 5: 53,703,082 I135N probably damaging Het
Cdca7 CGAGGAAGAGGAGGAGGAAGAGGAGGAGGAAGAGGA CGAGGAAGAGGAGGAGGAAGAGGA 2: 72,483,477 probably benign Het
Cep295 T C 9: 15,324,255 H2056R possibly damaging Het
Chrnb2 T C 3: 89,757,255 K451E probably damaging Het
Ctnna2 C T 6: 76,942,266 R663Q probably benign Het
Cyp4f37 A T 17: 32,634,279 I406F probably benign Het
Eml4 T A 17: 83,427,211 probably benign Het
Fkrp G T 7: 16,810,644 T431K probably damaging Het
Fsip2 A T 2: 82,975,836 Y833F possibly damaging Het
Galnt2 T C 8: 124,332,098 probably null Het
Gm13101 T C 4: 143,965,744 Q229R probably benign Het
Gm8180 T A 14: 43,782,349 probably null Het
Gm8882 G C 6: 132,361,893 Q121E unknown Het
Hcn1 T C 13: 117,971,635 S552P unknown Het
Ifit1 A C 19: 34,648,487 E341A possibly damaging Het
Iyd A G 10: 3,540,250 probably benign Het
Krt72 A T 15: 101,786,401 S20T probably damaging Het
Lipn A T 19: 34,076,976 I205F possibly damaging Het
Nat1 G T 8: 67,491,071 R36L probably benign Het
Nebl A T 2: 17,411,096 M334K possibly damaging Het
Nectin4 A T 1: 171,386,783 N502I probably damaging Het
Nrp1 G A 8: 128,487,908 V626I probably benign Het
Olfr160 C T 9: 37,711,908 V124M probably damaging Het
Olfr692 A G 7: 105,368,473 Y49C probably damaging Het
Oprm1 G A 10: 6,823,914 probably benign Het
Pde2a A G 7: 101,507,720 Y637C probably damaging Het
Pde4d T C 13: 109,935,390 V306A probably damaging Het
Pdzd9 G A 7: 120,670,275 probably benign Het
Pitpnm3 T A 11: 72,056,191 D810V probably damaging Het
Pkd1l3 A T 8: 109,665,672 H1966L probably benign Het
Pmfbp1 C T 8: 109,521,029 T319I possibly damaging Het
Psg18 T A 7: 18,353,525 R69S possibly damaging Het
Ptprg A T 14: 12,213,638 Q1002L possibly damaging Het
Ptprj T C 2: 90,460,640 Y585C probably damaging Het
Rad51c T C 11: 87,402,716 T105A probably benign Het
Rbm12 A T 2: 156,095,561 D930E unknown Het
Rlf A C 4: 121,150,587 S509A possibly damaging Het
Slc39a3 C A 10: 81,033,665 G53C probably damaging Het
Smchd1 G A 17: 71,363,022 Q1685* probably null Het
Sprr2d A C 3: 92,340,408 E52A unknown Het
Stat1 A G 1: 52,142,927 N355S probably damaging Het
Tmem30b T C 12: 73,546,149 E64G probably benign Het
Ttll11 A T 2: 35,979,380 V82D probably benign Het
Ttn T A 2: 76,740,633 T26639S probably damaging Het
Usp53 A T 3: 122,934,076 N952K probably benign Het
Vmn1r199 T A 13: 22,383,554 H339Q possibly damaging Het
Vps13b G A 15: 35,422,391 D166N probably damaging Het
Zfp954 C A 7: 7,116,098 C149F probably benign Het
Other mutations in Lemd2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01791:Lemd2 APN 17 27190728 missense probably damaging 1.00
IGL02161:Lemd2 APN 17 27190651 missense probably damaging 1.00
IGL02903:Lemd2 APN 17 27193210 splice site probably benign
R0078:Lemd2 UTSW 17 27203728 missense probably benign 0.17
R0458:Lemd2 UTSW 17 27190653 missense probably damaging 0.99
R1396:Lemd2 UTSW 17 27190732 missense probably damaging 1.00
R3106:Lemd2 UTSW 17 27201670 missense probably damaging 1.00
R4319:Lemd2 UTSW 17 27201677 missense possibly damaging 0.87
R4930:Lemd2 UTSW 17 27193832 splice site probably null
R5172:Lemd2 UTSW 17 27195382 nonsense probably null
R5239:Lemd2 UTSW 17 27203799 missense possibly damaging 0.53
R6005:Lemd2 UTSW 17 27190785 missense probably damaging 1.00
R6196:Lemd2 UTSW 17 27193002 nonsense probably null
R6621:Lemd2 UTSW 17 27195392 missense probably benign 0.01
R7208:Lemd2 UTSW 17 27196191 missense probably damaging 1.00
R7552:Lemd2 UTSW 17 27193836 critical splice donor site probably null
R7558:Lemd2 UTSW 17 27204163 missense probably benign 0.04
R9309:Lemd2 UTSW 17 27192962 missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- CCATCTTCACCCACAGGATG -3'
(R):5'- GGAACGTCTACCGCAACAAG -3'

Sequencing Primer
(F):5'- CCACAGGATGGCCAAGAAGC -3'
(R):5'- CAACAAGCTGCGCCGCC -3'
Posted On 2022-08-31