Incidental Mutation 'R0686:Ltbr'
ID 61165
Institutional Source Beutler Lab
Gene Symbol Ltbr
Ensembl Gene ENSMUSG00000030339
Gene Name lymphotoxin B receptor
Synonyms Ltar, TNF-R-III, Tnfrsf3, TNFR2-RP, LT-beta receptor, LT beta-R, TNF receptor-related protein, Tnfbr, LTbetaR, TNFCR, TNFRrp
MMRRC Submission 038871-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0686 (G1)
Quality Score 137
Status Not validated
Chromosome 6
Chromosomal Location 125283534-125290848 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 125285024 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 292 (D292G)
Ref Sequence ENSEMBL: ENSMUSP00000032489 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032489]
AlphaFold P50284
Predicted Effect possibly damaging
Transcript: ENSMUST00000032489
AA Change: D292G

PolyPhen 2 Score 0.880 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000032489
Gene: ENSMUSG00000030339
AA Change: D292G

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
TNFR 43 80 5.73e-5 SMART
TNFR 83 124 3.96e-8 SMART
Blast:TNFR 126 169 3e-7 BLAST
TNFR 172 212 1.95e-7 SMART
transmembrane domain 222 244 N/A INTRINSIC
low complexity region 294 305 N/A INTRINSIC
low complexity region 362 388 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160901
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161891
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 95.4%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the tumor necrosis factor receptor superfamily. The major ligands of this receptor include lymphotoxin alpha/beta and tumor necrosis factor ligand superfamily member 14. The encoded protein plays a role in signalling during the development of lymphoid and other organs, lipid metabolism, immune response, and programmed cell death. Activity of this receptor has also been linked to carcinogenesis. Alternatively spliced transcript variants encoding multiple isoforms have been observed. [provided by RefSeq, Aug 2012]
PHENOTYPE: Homozygotes for a targeted null mutation lack Peyer's patches, colon-associated lymphoid tissues, and lymph nodes. Mutants also exhibit severely reduced numbers of NK cells and increased susceptibility to Theiler's murine encephalomyelitis virus. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700123K08Rik C T 5: 138,562,799 (GRCm39) E42K possibly damaging Het
Arhgef12 A C 9: 42,904,324 (GRCm39) L718R probably benign Het
Bsx T G 9: 40,787,733 (GRCm39) S136A probably damaging Het
Ccne2 T A 4: 11,197,220 (GRCm39) M174K possibly damaging Het
Ces1a A G 8: 93,749,077 (GRCm39) Y445H probably damaging Het
Ckb A G 12: 111,636,627 (GRCm39) V249A probably benign Het
Crybg2 TGGAGGAGGAGGAGGAGGAG TGGAGGAGGAGGAGGAG 4: 133,801,837 (GRCm39) probably benign Het
Cyp2r1 T G 7: 114,151,246 (GRCm39) M358L possibly damaging Het
Dnah10 T C 5: 124,824,782 (GRCm39) I646T possibly damaging Het
Eeig2 G A 3: 108,900,001 (GRCm39) R116C probably damaging Het
Eps8l1 T A 7: 4,480,449 (GRCm39) D563E probably benign Het
Fhip1b G T 7: 105,037,516 (GRCm39) L356I probably damaging Het
Fpr-rs4 A C 17: 18,242,613 (GRCm39) I207L probably benign Het
Fus G A 7: 127,571,935 (GRCm39) probably benign Het
Ireb2 A T 9: 54,811,460 (GRCm39) I755L probably benign Het
Kctd9 A G 14: 67,966,185 (GRCm39) T101A probably damaging Het
Lcor T A 19: 41,570,811 (GRCm39) S1R possibly damaging Het
Med1 G A 11: 98,049,230 (GRCm39) T507I probably damaging Het
Msh3 G A 13: 92,487,939 (GRCm39) P93S possibly damaging Het
Or2ag1 A T 7: 106,313,585 (GRCm39) M101K probably damaging Het
Or8g37 A C 9: 39,730,964 (GRCm39) T10P probably damaging Het
Paqr5 T G 9: 61,880,076 (GRCm39) T59P probably benign Het
Pih1d1 T A 7: 44,805,753 (GRCm39) L74* probably null Het
Prim2 T C 1: 33,553,270 (GRCm39) T264A probably benign Het
Prss59 G A 6: 40,905,452 (GRCm39) S68F probably damaging Het
Rasef A G 4: 73,652,771 (GRCm39) S577P probably damaging Het
Simc1 T A 13: 54,673,003 (GRCm39) S450R probably benign Het
Tdrd1 A T 19: 56,844,483 (GRCm39) N796I probably damaging Het
Vmn1r214 T A 13: 23,218,962 (GRCm39) I152N probably damaging Het
Other mutations in Ltbr
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03349:Ltbr APN 6 125,289,329 (GRCm39) missense probably damaging 0.96
Armitage UTSW 6 125,289,757 (GRCm39) missense probably damaging 0.97
bonsai UTSW 6 125,289,733 (GRCm39) missense probably damaging 1.00
kama UTSW 6 125,290,351 (GRCm39) critical splice donor site probably null
marine_blue UTSW 6 125,289,771 (GRCm39) missense probably damaging 0.98
moksha UTSW 6 125,285,031 (GRCm39) missense probably benign 0.00
Questionable UTSW 6 125,290,338 (GRCm39) splice site probably benign
R0090:Ltbr UTSW 6 125,286,412 (GRCm39) splice site probably benign
R0234:Ltbr UTSW 6 125,289,836 (GRCm39) missense probably benign 0.16
R0234:Ltbr UTSW 6 125,289,836 (GRCm39) missense probably benign 0.16
R0553:Ltbr UTSW 6 125,290,351 (GRCm39) critical splice donor site probably null
R0879:Ltbr UTSW 6 125,290,338 (GRCm39) splice site probably benign
R1086:Ltbr UTSW 6 125,289,703 (GRCm39) splice site probably benign
R2118:Ltbr UTSW 6 125,286,440 (GRCm39) missense probably benign 0.34
R2120:Ltbr UTSW 6 125,286,440 (GRCm39) missense probably benign 0.34
R2122:Ltbr UTSW 6 125,286,440 (GRCm39) missense probably benign 0.34
R2124:Ltbr UTSW 6 125,286,440 (GRCm39) missense probably benign 0.34
R2199:Ltbr UTSW 6 125,289,024 (GRCm39) missense probably benign 0.25
R4931:Ltbr UTSW 6 125,284,437 (GRCm39) splice site probably null
R5051:Ltbr UTSW 6 125,289,733 (GRCm39) missense probably damaging 1.00
R5174:Ltbr UTSW 6 125,286,500 (GRCm39) missense probably benign 0.00
R5268:Ltbr UTSW 6 125,289,757 (GRCm39) missense probably damaging 0.97
R5269:Ltbr UTSW 6 125,289,757 (GRCm39) missense probably damaging 0.97
R5357:Ltbr UTSW 6 125,289,757 (GRCm39) missense probably damaging 0.97
R5358:Ltbr UTSW 6 125,289,757 (GRCm39) missense probably damaging 0.97
R5360:Ltbr UTSW 6 125,289,757 (GRCm39) missense probably damaging 0.97
R5361:Ltbr UTSW 6 125,289,757 (GRCm39) missense probably damaging 0.97
R5363:Ltbr UTSW 6 125,289,757 (GRCm39) missense probably damaging 0.97
R5434:Ltbr UTSW 6 125,289,757 (GRCm39) missense probably damaging 0.97
R5436:Ltbr UTSW 6 125,289,757 (GRCm39) missense probably damaging 0.97
R5441:Ltbr UTSW 6 125,289,757 (GRCm39) missense probably damaging 0.97
R5442:Ltbr UTSW 6 125,289,757 (GRCm39) missense probably damaging 0.97
R5533:Ltbr UTSW 6 125,289,757 (GRCm39) missense probably damaging 0.97
R5534:Ltbr UTSW 6 125,289,757 (GRCm39) missense probably damaging 0.97
R5859:Ltbr UTSW 6 125,289,771 (GRCm39) missense probably damaging 0.98
R6217:Ltbr UTSW 6 125,284,417 (GRCm39) missense probably damaging 1.00
R6702:Ltbr UTSW 6 125,285,031 (GRCm39) missense probably benign 0.00
R7101:Ltbr UTSW 6 125,289,763 (GRCm39) missense probably benign 0.00
R7584:Ltbr UTSW 6 125,284,204 (GRCm39) missense probably benign 0.09
R7587:Ltbr UTSW 6 125,289,315 (GRCm39) missense probably benign
R8798:Ltbr UTSW 6 125,284,258 (GRCm39) missense probably benign 0.01
R9720:Ltbr UTSW 6 125,284,348 (GRCm39) missense probably damaging 1.00
R9721:Ltbr UTSW 6 125,284,348 (GRCm39) missense probably damaging 1.00
R9723:Ltbr UTSW 6 125,284,348 (GRCm39) missense probably damaging 1.00
R9746:Ltbr UTSW 6 125,290,064 (GRCm39) missense probably benign
R9750:Ltbr UTSW 6 125,284,348 (GRCm39) missense probably damaging 1.00
R9753:Ltbr UTSW 6 125,284,348 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CCCTGCTATAGGTTTCTGCACACAC -3'
(R):5'- ACGAAGGTATGATGGAGTCTTGGTCTC -3'

Sequencing Primer
(F):5'- ATAGGTTTCTGCACACACTCCTC -3'
(R):5'- CTCTTTGATGCTGGATGGTTCTC -3'
Posted On 2013-07-30