Incidental Mutation 'R0135:Tnfrsf1b'
ID 21869
Institutional Source Beutler Lab
Gene Symbol Tnfrsf1b
Ensembl Gene ENSMUSG00000028599
Gene Name tumor necrosis factor receptor superfamily, member 1b
Synonyms CD120b, TNFBR, TNFR80, p75, TNFalpha-R2, TNFRII, p75 TNFR, TNF-R2, TNF-R-II, TNF-alphaR2, Tnfr2, TNF-R75
MMRRC Submission 038420-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.216) question?
Stock # R0135 (G1)
Quality Score 225
Status Validated (trace)
Chromosome 4
Chromosomal Location 144940033-144973440 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 144955616 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 47 (Y47H)
Ref Sequence ENSEMBL: ENSMUSP00000030336 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030336] [ENSMUST00000143055]
AlphaFold P25119
Predicted Effect probably benign
Transcript: ENSMUST00000030336
AA Change: Y47H

PolyPhen 2 Score 0.151 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000030336
Gene: ENSMUSG00000028599
AA Change: Y47H

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
TNFR 40 76 2.15e-9 SMART
TNFR 79 119 2.19e-10 SMART
TNFR 121 163 7.27e-7 SMART
TNFR 166 202 2.22e-2 SMART
transmembrane domain 263 285 N/A INTRINSIC
low complexity region 324 338 N/A INTRINSIC
low complexity region 363 378 N/A INTRINSIC
low complexity region 390 405 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000143055
SMART Domains Protein: ENSMUSP00000115702
Gene: ENSMUSG00000028599

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Meta Mutation Damage Score 0.4610 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.3%
  • 10x: 96.5%
  • 20x: 93.6%
Validation Efficiency 100% (80/80)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the TNF-receptor superfamily. This protein and TNF-receptor 1 form a heterocomplex that mediates the recruitment of two anti-apoptotic proteins, c-IAP1 and c-IAP2, which possess E3 ubiquitin ligase activity. The function of IAPs in TNF-receptor signalling is unknown, however, c-IAP1 is thought to potentiate TNF-induced apoptosis by the ubiquitination and degradation of TNF-receptor-associated factor 2, which mediates anti-apoptotic signals. Knockout studies in mice also suggest a role of this protein in protecting neurons from apoptosis by stimulating antioxidative pathways. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations exhibit altered inflammatory responses in a variety of experimental conditions, impaired recovery from spinal cord injury, enhanced ischemia-reperfusion-induced retinal damage, and resistance to cerebral malaria. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438H23Rik A G 16: 90,852,515 (GRCm39) F207S probably damaging Het
Abhd8 T A 8: 71,910,718 (GRCm39) K363N probably benign Het
Adam11 T A 11: 102,667,399 (GRCm39) V653E probably damaging Het
Adam18 T C 8: 25,155,558 (GRCm39) S154G possibly damaging Het
Adamts1 T C 16: 85,595,591 (GRCm39) probably benign Het
Afm G T 5: 90,698,181 (GRCm39) V528L probably benign Het
Alox12b C T 11: 69,053,574 (GRCm39) H145Y probably benign Het
Ankmy2 C A 12: 36,220,434 (GRCm39) probably benign Het
Aox3 G A 1: 58,164,247 (GRCm39) probably benign Het
Arhgap28 T C 17: 68,171,583 (GRCm39) D396G probably damaging Het
B430203G13Rik T C 12: 17,974,489 (GRCm39) noncoding transcript Het
Bean1 C T 8: 104,943,807 (GRCm39) P121S probably damaging Het
Bok T C 1: 93,614,229 (GRCm39) S21P probably damaging Het
Brwd1 A C 16: 95,848,304 (GRCm39) N572K probably damaging Het
C5ar1 A T 7: 15,982,864 (GRCm39) V52E probably damaging Het
Cblif G T 19: 11,735,118 (GRCm39) C246F probably damaging Het
Cdr2l C A 11: 115,284,497 (GRCm39) P278T probably damaging Het
Cnga4 T A 7: 105,056,055 (GRCm39) I219N probably damaging Het
Cpne2 C T 8: 95,281,553 (GRCm39) probably benign Het
D430041D05Rik A G 2: 104,085,379 (GRCm39) S1057P possibly damaging Het
Def8 G A 8: 124,183,234 (GRCm39) A278T probably damaging Het
Dgcr2 A G 16: 17,676,306 (GRCm39) S152P probably damaging Het
Dstyk A T 1: 132,390,672 (GRCm39) D828V probably damaging Het
Eml2 T C 7: 18,937,877 (GRCm39) S582P probably damaging Het
Engase T C 11: 118,375,304 (GRCm39) Y359H possibly damaging Het
Fat3 T C 9: 15,918,073 (GRCm39) D1450G probably damaging Het
Fbxw8 A T 5: 118,208,552 (GRCm39) I467N probably damaging Het
Fhdc1 A T 3: 84,352,925 (GRCm39) Y767N probably damaging Het
Flii T C 11: 60,614,204 (GRCm39) D105G probably damaging Het
Gaa C T 11: 119,169,716 (GRCm39) T590I probably benign Het
Gabrr1 T A 4: 33,160,224 (GRCm39) S303T probably damaging Het
Garre1 T C 7: 33,945,382 (GRCm39) I499M probably damaging Het
Glp1r A G 17: 31,143,551 (GRCm39) I196V probably benign Het
Grm6 G A 11: 50,744,050 (GRCm39) E174K probably damaging Het
Helz2 A C 2: 180,874,062 (GRCm39) L2144R probably damaging Het
Itpr1 A T 6: 108,465,443 (GRCm39) probably benign Het
Kcns1 A T 2: 164,006,875 (GRCm39) S363T possibly damaging Het
Kif13a A T 13: 46,947,419 (GRCm39) V855E probably damaging Het
Krt42 T C 11: 100,153,985 (GRCm39) T424A possibly damaging Het
Lct A T 1: 128,212,860 (GRCm39) F1931Y probably damaging Het
Lrp1b A T 2: 41,159,251 (GRCm39) V1563E probably damaging Het
Lrrc37 C A 11: 103,508,873 (GRCm39) probably benign Het
Lzts2 T C 19: 45,014,626 (GRCm39) probably benign Het
Mamdc4 C T 2: 25,456,932 (GRCm39) R615Q possibly damaging Het
Mei1 C T 15: 81,956,170 (GRCm39) Q133* probably null Het
Mif4gd T C 11: 115,499,291 (GRCm39) E197G probably damaging Het
Ncdn A T 4: 126,640,462 (GRCm39) S544T probably benign Het
Nfat5 C T 8: 108,065,707 (GRCm39) R156W probably damaging Het
Or52a5 T A 7: 103,426,970 (GRCm39) D194V probably damaging Het
Padi6 T C 4: 140,464,663 (GRCm39) T114A probably benign Het
Pigk G T 3: 152,450,343 (GRCm39) probably benign Het
Pkd1 T A 17: 24,784,045 (GRCm39) F197Y possibly damaging Het
Pld5 A T 1: 175,798,155 (GRCm39) F415I probably damaging Het
Pnpla5 A G 15: 83,998,150 (GRCm39) L364P probably damaging Het
Prrc2c G A 1: 162,543,052 (GRCm39) probably benign Het
Rab32 C T 10: 10,426,584 (GRCm39) D121N probably damaging Het
Rab44 A T 17: 29,357,106 (GRCm39) T79S probably benign Het
Reln G T 5: 22,333,647 (GRCm39) N258K probably damaging Het
Retsat A G 6: 72,579,755 (GRCm39) T177A probably damaging Het
Serpinf2 T A 11: 75,327,219 (GRCm39) H236L probably damaging Het
Slc26a6 A T 9: 108,737,794 (GRCm39) probably benign Het
Slitrk1 T A 14: 109,149,061 (GRCm39) E550V probably benign Het
Smarcd3 A T 5: 24,800,497 (GRCm39) probably benign Het
Spdye4a A C 5: 143,210,857 (GRCm39) probably null Het
Susd2 C T 10: 75,474,348 (GRCm39) G572D probably damaging Het
Tcaf3 C T 6: 42,566,692 (GRCm39) R799K probably benign Het
Tg A G 15: 66,566,719 (GRCm39) S1256G probably benign Het
Them4 A T 3: 94,230,877 (GRCm39) probably benign Het
Tmem210 C T 2: 25,178,480 (GRCm39) A47V probably damaging Het
Tnik T G 3: 28,661,394 (GRCm39) N598K possibly damaging Het
Ttc3 A G 16: 94,263,127 (GRCm39) N1498D possibly damaging Het
Ttll4 C A 1: 74,719,087 (GRCm39) H313N possibly damaging Het
Vipr2 A G 12: 116,106,447 (GRCm39) I348V probably benign Het
Vps13a A G 19: 16,758,129 (GRCm39) V2A probably damaging Het
Vps72 G A 3: 95,026,508 (GRCm39) R151K probably damaging Het
Zfp106 A G 2: 120,350,968 (GRCm39) V1561A probably damaging Het
Zfp658 C A 7: 43,223,019 (GRCm39) Y431* probably null Het
Zkscan2 T C 7: 123,079,864 (GRCm39) K698E possibly damaging Het
Other mutations in Tnfrsf1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01375:Tnfrsf1b APN 4 144,951,986 (GRCm39) missense probably damaging 1.00
IGL01716:Tnfrsf1b APN 4 144,942,493 (GRCm39) missense probably damaging 0.97
IGL01974:Tnfrsf1b APN 4 144,942,421 (GRCm39) missense probably damaging 1.00
IGL02631:Tnfrsf1b APN 4 144,951,398 (GRCm39) missense probably damaging 1.00
R0011:Tnfrsf1b UTSW 4 144,949,536 (GRCm39) missense possibly damaging 0.77
R0194:Tnfrsf1b UTSW 4 144,951,382 (GRCm39) missense probably benign 0.04
R0761:Tnfrsf1b UTSW 4 144,942,670 (GRCm39) missense possibly damaging 0.95
R1124:Tnfrsf1b UTSW 4 144,950,926 (GRCm39) missense probably benign 0.23
R1696:Tnfrsf1b UTSW 4 144,954,044 (GRCm39) missense probably benign
R3692:Tnfrsf1b UTSW 4 144,954,092 (GRCm39) missense probably benign 0.01
R4248:Tnfrsf1b UTSW 4 144,942,535 (GRCm39) missense probably benign 0.01
R4409:Tnfrsf1b UTSW 4 144,950,855 (GRCm39) nonsense probably null
R4957:Tnfrsf1b UTSW 4 144,973,328 (GRCm39) missense possibly damaging 0.90
R4957:Tnfrsf1b UTSW 4 144,973,327 (GRCm39) missense probably damaging 0.99
R5180:Tnfrsf1b UTSW 4 144,954,067 (GRCm39) missense probably damaging 1.00
R5425:Tnfrsf1b UTSW 4 144,955,678 (GRCm39) critical splice acceptor site probably null
R6163:Tnfrsf1b UTSW 4 144,946,477 (GRCm39) missense probably benign 0.24
R7055:Tnfrsf1b UTSW 4 144,951,457 (GRCm39) missense probably damaging 1.00
R7891:Tnfrsf1b UTSW 4 144,955,660 (GRCm39) missense probably damaging 1.00
R8796:Tnfrsf1b UTSW 4 144,946,485 (GRCm39) missense possibly damaging 0.95
R8919:Tnfrsf1b UTSW 4 144,950,150 (GRCm39) missense probably damaging 1.00
R9658:Tnfrsf1b UTSW 4 144,942,424 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCCCAGGGCAAGATGAATCATGAAC -3'
(R):5'- GGTCCTTGTCACAGTGAGTCAAGC -3'

Sequencing Primer
(F):5'- ccctagcatgtataaagcagcc -3'
(R):5'- AGTGAGTCAAGCCACTGTC -3'
Posted On 2013-04-12