Incidental Mutation 'R1086:Ltbr'
ID 85022
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 039172-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1086 (G1)
Quality Score 154
Status Validated
Chromosome 6
Chromosomal Location 125283534-125290848 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) G to A at 125289703 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000032489 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032489]
AlphaFold P50284
Predicted Effect probably benign
Transcript: ENSMUST00000032489
SMART Domains Protein: ENSMUSP00000032489
Gene: ENSMUSG00000030339

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.3%
  • 20x: 94.4%
Validation Efficiency 100% (53/53)
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 A T 1: 71,334,220 (GRCm39) probably benign Het
Agbl4 G C 4: 110,335,791 (GRCm39) probably benign Het
Ano6 T C 15: 95,847,843 (GRCm39) probably null Het
B3gnt8 C G 7: 25,327,736 (GRCm39) N55K probably damaging Het
Brox A G 1: 183,064,052 (GRCm39) Y252H probably damaging Het
Cfap100 T A 6: 90,380,890 (GRCm39) K605* probably null Het
Chd7 A G 4: 8,866,458 (GRCm39) T877A probably benign Het
Csmd3 T A 15: 47,559,151 (GRCm39) I2371F probably damaging Het
Cwc22 T A 2: 77,754,824 (GRCm39) probably benign Het
Cyp2s1 A T 7: 25,505,422 (GRCm39) D347E probably damaging Het
Dab1 C A 4: 104,185,769 (GRCm39) probably benign Het
Dis3l2 G A 1: 86,917,871 (GRCm39) D493N probably benign Het
Got1l1 A G 8: 27,688,007 (GRCm39) W341R probably damaging Het
Gps2 A G 11: 69,806,050 (GRCm39) probably benign Het
Haus1 A C 18: 77,854,553 (GRCm39) probably benign Het
Itgam T C 7: 127,679,436 (GRCm39) S193P probably damaging Het
Itpr2 C A 6: 146,251,543 (GRCm39) A1034S probably damaging Het
Lrp5 T C 19: 3,699,476 (GRCm39) R270G probably benign Het
Mdga2 T C 12: 66,552,876 (GRCm39) probably benign Het
Mug1 T A 6: 121,862,813 (GRCm39) M1387K probably damaging Het
Nwd2 C T 5: 63,963,917 (GRCm39) S1167L probably damaging Het
Or5h19 T A 16: 58,856,626 (GRCm39) H158L probably damaging Het
Pfkm T C 15: 98,029,546 (GRCm39) V719A probably benign Het
Ppfia3 C G 7: 45,011,182 (GRCm39) G16A probably damaging Het
Ppp2r3d G A 9: 101,031,021 (GRCm39) T245I possibly damaging Het
Ptprd T C 4: 76,051,495 (GRCm39) T256A probably damaging Het
Ptprg C T 14: 11,952,706 (GRCm38) probably benign Het
Rabgap1 T C 2: 37,359,458 (GRCm39) V7A probably damaging Het
Rnh1 T G 7: 140,743,282 (GRCm39) Q231P probably benign Het
Rwdd2b C T 16: 87,233,446 (GRCm39) probably benign Het
Saal1 T C 7: 46,338,883 (GRCm39) probably benign Het
Sap130 G A 18: 31,783,673 (GRCm39) probably benign Het
Serpina1d T G 12: 103,730,046 (GRCm39) M379L probably benign Het
Skor2 A C 18: 76,946,994 (GRCm39) S239R unknown Het
Slc16a13 A G 11: 70,109,850 (GRCm39) L217P probably damaging Het
Slc18b1 T C 10: 23,679,693 (GRCm39) M74T probably benign Het
Speer4e2 T C 5: 15,028,804 (GRCm39) D29G probably benign Het
Tacc2 A T 7: 130,228,227 (GRCm39) E1637D possibly damaging Het
Tedc2 T A 17: 24,435,291 (GRCm39) E366V probably damaging Het
Tedc2 C A 17: 24,435,292 (GRCm39) E366* probably null Het
Tg A C 15: 66,555,911 (GRCm39) I868L probably benign Het
Ttll5 G A 12: 85,937,853 (GRCm39) V395I possibly damaging Het
Uba6 C A 5: 86,275,578 (GRCm39) C739F probably benign Het
Unc5d A C 8: 29,365,658 (GRCm39) V109G possibly damaging Het
Zfp407 C T 18: 84,577,898 (GRCm39) A1072T probably benign Het
Zfp462 G T 4: 55,013,000 (GRCm39) K507N 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
R0686:Ltbr UTSW 6 125,285,024 (GRCm39) missense possibly damaging 0.88
R0879:Ltbr UTSW 6 125,290,338 (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'- ACAGGAGGGAGCTACCTTCTAAGC -3'
(R):5'- CCTGTGACATTGGTAAGTGGGGAC -3'

Sequencing Primer
(F):5'- ATACCAGTTCATGTCTTGGCAG -3'
(R):5'- ATCTGCATGATGGGTACGAC -3'
Posted On 2013-11-18