Incidental Mutation 'R4931:Ltbr'
ID 380556
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 042532-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4931 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 125283534-125290848 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) G to T at 125284437 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 null
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: ENSMUST00000161891
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.4%
  • 20x: 92.7%
Validation Efficiency 95% (78/82)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410004B18Rik A G 3: 145,643,875 (GRCm39) D21G probably benign Het
4930562C15Rik T C 16: 4,678,910 (GRCm39) L68P possibly damaging Het
Ache A G 5: 137,290,176 (GRCm39) I414V probably benign Het
Acy1 G A 9: 106,310,390 (GRCm39) H308Y probably damaging Het
Aldh1b1 A C 4: 45,803,661 (GRCm39) I400L probably benign Het
Ankrd40 T A 11: 94,225,647 (GRCm39) L226Q probably benign Het
B3gnt9 T C 8: 105,980,876 (GRCm39) T171A probably benign Het
Ccdc33 T C 9: 57,977,134 (GRCm39) Y289C probably damaging Het
Cd209f A T 8: 4,153,688 (GRCm39) I187N probably damaging Het
Cers6 T G 2: 68,935,456 (GRCm39) S319A probably damaging Het
Chrna4 A G 2: 180,670,665 (GRCm39) S364P probably benign Het
Chrnb3 T C 8: 27,884,258 (GRCm39) S317P probably damaging Het
Dapk1 T C 13: 60,908,774 (GRCm39) V1129A probably benign Het
Dhx9 G A 1: 153,348,419 (GRCm39) P302L probably benign Het
Dnaaf9 A G 2: 130,583,793 (GRCm39) F496L possibly damaging Het
Dnah8 G A 17: 30,967,542 (GRCm39) D2585N probably benign Het
Duox2 T C 2: 122,127,236 (GRCm39) N147S probably benign Het
Dytn T G 1: 63,672,837 (GRCm39) E522A probably benign Het
E130114P18Rik T C 4: 97,608,524 (GRCm39) D27G unknown Het
Egf A G 3: 129,505,117 (GRCm39) F118S probably damaging Het
Eif2d T A 1: 131,082,128 (GRCm39) F73L probably damaging Het
Eps8l1 A G 7: 4,474,240 (GRCm39) E237G possibly damaging Het
Espl1 A G 15: 102,214,165 (GRCm39) E664G probably benign Het
Fbrsl1 A T 5: 110,526,895 (GRCm39) S373T possibly damaging Het
Fras1 T A 5: 96,784,699 (GRCm39) F894Y probably benign Het
Gpatch8 T C 11: 102,372,050 (GRCm39) E496G unknown Het
Gucy1a2 A G 9: 3,759,588 (GRCm39) K465E probably damaging Het
Igdcc4 A G 9: 65,031,297 (GRCm39) T459A possibly damaging Het
Itgad A T 7: 127,803,797 (GRCm39) I64F probably damaging Het
Itgb2l T A 16: 96,238,649 (GRCm39) N50I probably damaging Het
Kif13a A G 13: 46,962,531 (GRCm39) I478T probably damaging Het
Krt31 G A 11: 99,940,983 (GRCm39) T109I probably benign Het
Magel2 A G 7: 62,030,372 (GRCm39) D1092G unknown Het
Minar1 T C 9: 89,483,705 (GRCm39) H564R probably benign Het
Mindy3 A T 2: 12,401,024 (GRCm39) N231K probably damaging Het
Mpnd T G 17: 56,319,362 (GRCm39) probably benign Het
Mtus2 C T 5: 148,014,226 (GRCm39) L340F probably benign Het
Nanog G A 6: 122,684,865 (GRCm39) A17T possibly damaging Het
Ndufa9 G T 6: 126,813,283 (GRCm39) A181E probably damaging Het
Or52z14 T G 7: 103,253,581 (GRCm39) L240R probably benign Het
Or7e175 A T 9: 20,048,858 (GRCm39) I149F probably benign Het
Pprc1 ATCCTCCTCCTCCTCCTCCTC ATCCTCCTCCTCCTCCTC 19: 46,059,755 (GRCm39) probably benign Het
Pramel18 T C 4: 101,766,367 (GRCm39) V17A possibly damaging Het
Prkacb T C 3: 146,453,732 (GRCm39) I211V possibly damaging Het
Ptpn14 C G 1: 189,583,474 (GRCm39) L774V probably benign Het
Rad1 T C 15: 10,492,848 (GRCm39) probably benign Het
Rims1 G T 1: 22,573,028 (GRCm39) P391Q probably benign Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
Sf3b3 C T 8: 111,542,961 (GRCm39) R832Q probably benign Het
Slc12a2 A G 18: 58,068,035 (GRCm39) D975G possibly damaging Het
Slitrk6 A G 14: 110,987,811 (GRCm39) L632P probably damaging Het
Spire2 A G 8: 124,095,523 (GRCm39) D542G possibly damaging Het
Sppl3 A T 5: 115,220,373 (GRCm39) Q95L probably damaging Het
Stat5b C A 11: 100,675,080 (GRCm39) E710* probably null Het
Tcl1 G T 12: 105,188,872 (GRCm39) H14N probably damaging Het
Ten1 T C 11: 116,096,555 (GRCm39) F70L probably benign Het
Tnfrsf13b A T 11: 61,031,763 (GRCm39) T35S possibly damaging Het
Tpcn2 G A 7: 144,821,046 (GRCm39) P336L probably benign Het
Trf C A 9: 103,105,247 (GRCm39) D22Y probably damaging Het
Ttyh1 A G 7: 4,136,943 (GRCm39) probably benign Het
Vmn2r103 A T 17: 20,032,031 (GRCm39) I602F probably benign Het
Zfp296 G T 7: 19,313,637 (GRCm39) C164F possibly damaging Het
Zfp352 A G 4: 90,112,541 (GRCm39) Y227C probably damaging Het
Zfp599 A T 9: 22,169,419 (GRCm39) W18R 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
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
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'- TGGTAGGGTGTAGACAGCTC -3'
(R):5'- AGTGTGTGCAGAAACCTATAGC -3'

Sequencing Primer
(F):5'- TGTAGACAGCTCAGAAGGGCC -3'
(R):5'- CTATAGCAGGGCTGAGGCTG -3'
Posted On 2016-04-15