Incidental Mutation 'R0011:Tnfrsf1b'
ID 63210
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 038306-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.216) question?
Stock # R0011 (G1)
Quality Score 123
Status Validated
Chromosome 4
Chromosomal Location 144940033-144973440 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 144949536 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Serine at position 297 (R297S)
Ref Sequence ENSEMBL: ENSMUSP00000030336 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030336] [ENSMUST00000143055]
AlphaFold P25119
Predicted Effect possibly damaging
Transcript: ENSMUST00000030336
AA Change: R297S

PolyPhen 2 Score 0.775 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000030336
Gene: ENSMUSG00000028599
AA Change: R297S

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 0.0883 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.7%
  • 20x: 95.9%
Validation Efficiency 100% (59/59)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930011G23Rik T C 5: 99,380,213 (GRCm39) Y344C probably damaging Het
Alox15 A G 11: 70,240,422 (GRCm39) V253A possibly damaging Het
Ank3 A G 10: 69,815,281 (GRCm39) probably benign Het
Art3 T A 5: 92,551,471 (GRCm39) Y17N probably damaging Het
Asic3 C T 5: 24,622,490 (GRCm39) probably benign Het
Bach2 G T 4: 32,244,655 (GRCm39) probably benign Het
Brip1 C A 11: 86,077,824 (GRCm39) K201N possibly damaging Het
Ccdc88a T C 11: 29,324,364 (GRCm39) F6S probably damaging Het
Cdcp3 T A 7: 130,831,722 (GRCm39) L389Q probably damaging Het
Celsr2 A G 3: 108,320,718 (GRCm39) I698T probably benign Het
Cenpf A G 1: 189,382,903 (GRCm39) S2664P probably benign Het
Cfap54 A T 10: 92,901,087 (GRCm39) C156S probably damaging Het
Cops4 C A 5: 100,675,847 (GRCm39) Q28K probably benign Het
Cyb5a T A 18: 84,895,947 (GRCm39) probably benign Het
Diaph3 A T 14: 87,103,844 (GRCm39) C847S probably damaging Het
Dnah3 T C 7: 119,618,924 (GRCm39) K1648R probably damaging Het
Dnai7 T A 6: 145,124,781 (GRCm39) M515L probably damaging Het
Emilin2 C T 17: 71,580,863 (GRCm39) G621E probably benign Het
Enpp1 T A 10: 24,545,900 (GRCm39) K228* probably null Het
Epg5 T C 18: 77,991,698 (GRCm39) C132R probably benign Het
Epha7 G A 4: 28,962,564 (GRCm39) D961N probably benign Het
G6pc2 C A 2: 69,056,909 (GRCm39) probably benign Het
Gm7361 C T 5: 26,463,876 (GRCm39) probably benign Het
Grin2c T C 11: 115,146,576 (GRCm39) Y476C probably damaging Het
Hnrnpul1 T G 7: 25,442,340 (GRCm39) probably benign Het
Igf2bp1 T C 11: 95,896,410 (GRCm39) D17G probably damaging Het
Insrr T C 3: 87,716,923 (GRCm39) C688R possibly damaging Het
Itgb2l T C 16: 96,228,861 (GRCm39) probably benign Het
Kidins220 T A 12: 25,049,351 (GRCm39) V322E probably damaging Het
Klk1 C T 7: 43,878,959 (GRCm39) T149I probably benign Het
Mbd3l1 A G 9: 18,395,863 (GRCm39) probably benign Het
Miox C T 15: 89,220,477 (GRCm39) L189F possibly damaging Het
Mrc1 T C 2: 14,266,148 (GRCm39) probably null Het
Mtr T C 13: 12,252,938 (GRCm39) probably benign Het
Ncoa6 TGC TGCGC 2: 155,250,211 (GRCm39) probably null Het
Npy4r C T 14: 33,868,680 (GRCm39) V203M probably damaging Het
Or8g52 T A 9: 39,630,923 (GRCm39) N133K probably benign Het
Pik3r4 C A 9: 105,521,836 (GRCm39) T134K probably benign Het
Rdh19 T A 10: 127,692,780 (GRCm39) L149Q probably damaging Het
Sema3e C T 5: 14,194,025 (GRCm39) R85* probably null Het
Shtn1 A G 19: 59,020,650 (GRCm39) S191P possibly damaging Het
Slc39a11 A T 11: 113,138,659 (GRCm39) F279L probably benign Het
Slc4a1 T C 11: 102,247,936 (GRCm39) K353E possibly damaging Het
Slc6a18 A T 13: 73,813,738 (GRCm39) M515K possibly damaging Het
Snapc4 A G 2: 26,254,825 (GRCm39) I1225T probably benign Het
Spidr A T 16: 15,784,467 (GRCm39) W534R probably benign Het
Tmem202 T A 9: 59,432,084 (GRCm39) N81I probably benign Het
Trim55 A G 3: 19,725,163 (GRCm39) T227A probably benign Het
Trim58 A T 11: 58,533,946 (GRCm39) T167S probably benign Het
Trp53i11 A T 2: 93,029,698 (GRCm39) probably benign Het
Ttn T C 2: 76,640,699 (GRCm39) H5356R probably damaging Het
Tyrp1 C T 4: 80,759,030 (GRCm39) T301I probably damaging Het
Wdr17 A T 8: 55,125,536 (GRCm39) I448K possibly damaging Het
Wscd1 T C 11: 71,679,654 (GRCm39) V509A probably damaging Het
Zfp251 A G 15: 76,738,754 (GRCm39) V108A probably benign 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
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
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'- TATTGGGATGGCAGGTATGCACCAC -3'
(R):5'- GCTACAACACAGGCTGTACTGGAG -3'

Sequencing Primer
(F):5'- caggtatgcaccaccaTATACATTAG -3'
(R):5'- CAGGCTGTACTGGAGGATGG -3'
Posted On 2013-07-30