Incidental Mutation 'R0761:Tnfrsf1b'
ID 70082
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 038941-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.216) question?
Stock # R0761 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 144940033-144973440 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 144942670 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 371 (D371G)
Ref Sequence ENSEMBL: ENSMUSP00000030336 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030336]
AlphaFold P25119
Predicted Effect possibly damaging
Transcript: ENSMUST00000030336
AA Change: D371G

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000030336
Gene: ENSMUSG00000028599
AA Change: D371G

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
Meta Mutation Damage Score 0.0602 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 94.7%
Validation Efficiency 100% (51/51)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610008E11Rik T C 10: 78,903,833 (GRCm39) Y133C probably benign Het
Adcy5 G A 16: 35,091,195 (GRCm39) probably benign Het
Asb17 A G 3: 153,550,052 (GRCm39) K28R probably damaging Het
Bbs10 G T 10: 111,135,244 (GRCm39) C119F probably damaging Het
Camk2g G A 14: 20,816,280 (GRCm39) Q119* probably null Het
Cdh18 A T 15: 23,226,838 (GRCm39) I46L possibly damaging Het
Cimip2a T C 2: 25,110,135 (GRCm39) probably benign Het
Clmn T A 12: 104,747,817 (GRCm39) N577Y probably damaging Het
Col1a2 G A 6: 4,518,822 (GRCm39) probably benign Het
Crocc T C 4: 140,774,387 (GRCm39) E63G probably benign Het
Crocc T C 4: 140,757,087 (GRCm39) T965A probably benign Het
Cryzl2 A G 1: 157,293,294 (GRCm39) I132V probably benign Het
Csgalnact2 T C 6: 118,103,073 (GRCm39) probably benign Het
Ctr9 T C 7: 110,645,479 (GRCm39) S569P probably damaging Het
Cul3 A G 1: 80,255,203 (GRCm39) probably benign Het
Dcp2 G A 18: 44,543,300 (GRCm39) S286N probably benign Het
Dgkz C T 2: 91,775,696 (GRCm39) R189H probably benign Het
Dst A G 1: 34,221,848 (GRCm39) T2551A probably benign Het
Kcna4 T A 2: 107,126,417 (GRCm39) S384T probably benign Het
Klhl17 T C 4: 156,317,204 (GRCm39) probably null Het
Kmt2e C A 5: 23,708,032 (GRCm39) S1865* probably null Het
L3mbtl1 G A 2: 162,807,967 (GRCm39) R534H probably damaging Het
Lmnb2 A T 10: 80,742,088 (GRCm39) M1K probably null Het
Lrp1b T C 2: 41,075,947 (GRCm39) D1784G probably damaging Het
Lrrc34 A G 3: 30,685,425 (GRCm39) probably null Het
Megf10 C A 18: 57,421,048 (GRCm39) Y895* probably null Het
Mesd G T 7: 83,544,951 (GRCm39) A143S probably damaging Het
Mfap3l G T 8: 61,124,615 (GRCm39) V286L possibly damaging Het
Mroh2a G A 1: 88,171,672 (GRCm39) R770Q probably damaging Het
Nek1 T A 8: 61,542,489 (GRCm39) D717E probably benign Het
Nudt12 A T 17: 59,318,064 (GRCm39) D60E probably benign Het
Nup205 C T 6: 35,173,363 (GRCm39) probably benign Het
Or11g27 T C 14: 50,771,159 (GRCm39) S97P possibly damaging Het
Or2j3 A T 17: 38,616,282 (GRCm39) H23Q probably benign Het
Or4a75 T C 2: 89,448,179 (GRCm39) D119G probably damaging Het
Or5w19 C T 2: 87,698,880 (GRCm39) P182S possibly damaging Het
Pacs2 T A 12: 113,023,688 (GRCm39) probably benign Het
Pcdha9 T A 18: 37,133,016 (GRCm39) L695* probably null Het
Pira12 A T 7: 3,896,978 (GRCm39) probably null Het
Pkd1l1 A G 11: 8,804,375 (GRCm39) S1739P probably damaging Het
Polr1e C A 4: 45,027,392 (GRCm39) D207E probably damaging Het
Polr3f T A 2: 144,376,327 (GRCm39) V142E probably damaging Het
Psma6 T A 12: 55,459,127 (GRCm39) W170R possibly damaging Het
Rev3l T C 10: 39,750,191 (GRCm39) Y3114H probably benign Het
Rps6ka5 C T 12: 100,537,141 (GRCm39) A530T probably damaging Het
Simc1 T C 13: 54,674,387 (GRCm39) Y912H probably damaging Het
Trank1 T C 9: 111,195,681 (GRCm39) V1235A probably damaging Het
Ttn T C 2: 76,577,102 (GRCm39) E24597G probably damaging Het
Ubr2 G A 17: 47,294,242 (GRCm39) P297L probably damaging Het
Unc5d A T 8: 29,186,560 (GRCm39) probably null Het
Xpo4 A G 14: 57,850,840 (GRCm39) F355L probably 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
R0135:Tnfrsf1b UTSW 4 144,955,616 (GRCm39) missense probably benign 0.15
R0194:Tnfrsf1b UTSW 4 144,951,382 (GRCm39) missense probably benign 0.04
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'- TGACTGCAATCTGATCAAACCAGCC -3'
(R):5'- TCTGCCATCGTAGTAGAGGTGAGC -3'

Sequencing Primer
(F):5'- TCTGTAGTCTCACACGGGG -3'
(R):5'- TAGTAGAGGTGAGCTAGGGTC -3'
Posted On 2013-09-30