Incidental Mutation 'R5174:Ltbr'
ID 398992
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 042754-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5174 (G1)
Quality Score 196
Status Validated
Chromosome 6
Chromosomal Location 125283534-125290848 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 125286500 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 229 (S229P)
Ref Sequence ENSEMBL: ENSMUSP00000032489 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032489]
AlphaFold P50284
Predicted Effect probably benign
Transcript: ENSMUST00000032489
AA Change: S229P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000032489
Gene: ENSMUSG00000030339
AA Change: S229P

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: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.3%
Validation Efficiency 99% (69/70)
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ank3 T C 10: 69,728,209 (GRCm39) S632P probably damaging Het
Arhgef16 G A 4: 154,366,504 (GRCm39) R451W probably damaging Het
Asxl3 A T 18: 22,656,172 (GRCm39) D1394V probably benign Het
Atp2a3 T A 11: 72,871,041 (GRCm39) I545N probably damaging Het
Cadps2 T A 6: 23,287,742 (GRCm39) Y1181F probably damaging Het
Camkmt C A 17: 85,759,665 (GRCm39) F268L probably benign Het
Casp14 C T 10: 78,551,225 (GRCm39) G20D possibly damaging Het
Celf1 T C 2: 90,831,353 (GRCm39) C61R probably damaging Het
Cenpp CAAACCTGAAAA CAAA 13: 49,618,258 (GRCm39) probably null Het
Cers3 A T 7: 66,434,616 (GRCm39) K203M probably damaging Het
Clip4 T C 17: 72,117,957 (GRCm39) F334S probably damaging Het
Cyp2b13 T A 7: 25,788,118 (GRCm39) D415E possibly damaging Het
Decr2 A T 17: 26,306,443 (GRCm39) probably null Het
Dmxl2 T C 9: 54,352,768 (GRCm39) probably null Het
Dnah7b G A 1: 46,282,509 (GRCm39) A2881T possibly damaging Het
Dnaja3 A G 16: 4,502,161 (GRCm39) H55R probably benign Het
Dnajc11 T C 4: 152,064,441 (GRCm39) F531L probably damaging Het
Efcab6 A G 15: 83,938,687 (GRCm39) F10L probably benign Het
Epm2aip1 T C 9: 111,102,455 (GRCm39) F476S probably damaging Het
Fat3 T C 9: 15,910,866 (GRCm39) N1712S probably damaging Het
Flnc T C 6: 29,448,893 (GRCm39) V1343A possibly damaging Het
Fsip2 C T 2: 82,811,085 (GRCm39) P2468L probably benign Het
Gm5798 A G 14: 41,070,620 (GRCm39) H10R possibly damaging Het
Gm7168 A G 17: 14,168,717 (GRCm39) Y28C probably damaging Het
Gtpbp6 G A 5: 110,255,983 (GRCm39) R19C possibly damaging Het
Gucy2e A G 11: 69,127,392 (GRCm39) F27S probably benign Het
Inhca C T 9: 103,159,755 (GRCm39) probably null Het
Krba1 A G 6: 48,389,229 (GRCm39) E548G probably damaging Het
Mgat5b A T 11: 116,868,541 (GRCm39) Y488F probably benign Het
Mia3 T A 1: 183,112,348 (GRCm39) K475* probably null Het
Mrpl53 C T 6: 83,086,638 (GRCm39) T114M possibly damaging Het
Mrps35 T C 6: 146,961,709 (GRCm39) Y195H possibly damaging Het
Muc4 A T 16: 32,570,556 (GRCm39) I539F possibly damaging Het
Nedd1 T A 10: 92,547,074 (GRCm39) T150S possibly damaging Het
Nox4 T G 7: 86,972,974 (GRCm39) I327S probably benign Het
Nrk C G X: 137,887,528 (GRCm39) A1018G probably benign Het
Or4c102 T A 2: 88,422,992 (GRCm39) N281K probably damaging Het
Or4d5 T C 9: 40,012,043 (GRCm39) T248A possibly damaging Het
Or52ae7 T A 7: 103,119,610 (GRCm39) F121L probably benign Het
Or5w19 T A 2: 87,698,755 (GRCm39) V140E possibly damaging Het
Pdzd2 G A 15: 12,372,600 (GRCm39) P2512S probably benign Het
Ptgis T A 2: 167,045,390 (GRCm39) probably null Het
Rnf170 T A 8: 26,619,196 (GRCm39) M140K probably benign Het
Scaf4 A T 16: 90,044,062 (GRCm39) I637K unknown Het
Sdccag8 A T 1: 176,672,916 (GRCm39) T270S probably damaging Het
Sec24d T C 3: 123,158,575 (GRCm39) C1022R probably damaging Het
Sec63 T C 10: 42,705,077 (GRCm39) probably benign Het
Serpinb3d C G 1: 107,006,228 (GRCm39) E287Q possibly damaging Het
Silc1 A T 12: 27,192,027 (GRCm39) noncoding transcript Het
Smarcd2 A G 11: 106,157,871 (GRCm39) probably benign Het
Sox15 A G 11: 69,546,545 (GRCm39) Y116C probably damaging Het
Spag16 T C 1: 70,532,955 (GRCm39) S545P probably damaging Het
Ssc5d C A 7: 4,930,970 (GRCm39) T184N possibly damaging Het
St6galnac2 A T 11: 116,572,773 (GRCm39) F228I probably damaging Het
Syne1 T C 10: 4,991,490 (GRCm39) N8408S probably damaging Het
Trank1 A C 9: 111,194,627 (GRCm39) T884P probably benign Het
Ubr3 T A 2: 69,839,506 (GRCm39) L1540H probably damaging Het
Ugt2b37 C A 5: 87,399,739 (GRCm39) M256I probably benign Het
Vmn2r69 G A 7: 85,064,739 (GRCm39) T49I possibly damaging Het
Vmn2r72 T A 7: 85,387,048 (GRCm39) I839L probably benign Het
Zcrb1 A G 15: 93,285,456 (GRCm39) probably null Het
Zfp319 A T 8: 96,054,797 (GRCm39) probably null Het
Zfp592 T C 7: 80,688,073 (GRCm39) S1000P probably damaging Het
Zfp938 T C 10: 82,061,838 (GRCm39) N261D possibly damaging Het
Zfp957 A G 14: 79,450,828 (GRCm39) S324P unknown Het
Zswim6 G T 13: 107,863,216 (GRCm39) noncoding transcript 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
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
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'- GCGGAGGATGATAGAGTTACCC -3'
(R):5'- TCAGGACAGAGTCTCTCGTGTG -3'

Sequencing Primer
(F):5'- GAGGATGATAGAGTTACCCTTAACCC -3'
(R):5'- AGAGTCTCTCGTGTGGTCAAAAGATC -3'
Posted On 2016-07-06