Incidental Mutation 'R3941:Tnfrsf21'
ID 307475
Institutional Source Beutler Lab
Gene Symbol Tnfrsf21
Ensembl Gene ENSMUSG00000023915
Gene Name tumor necrosis factor receptor superfamily, member 21
Synonyms TR7, Death receptor 6, DR6
MMRRC Submission 040923-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.175) question?
Stock # R3941 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 43327446-43400079 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 43348901 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Tyrosine at position 171 (C171Y)
Ref Sequence ENSEMBL: ENSMUSP00000024708 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024708]
AlphaFold Q9EPU5
Predicted Effect probably damaging
Transcript: ENSMUST00000024708
AA Change: C171Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000024708
Gene: ENSMUSG00000023915
AA Change: C171Y

DomainStartEndE-ValueType
TNFR 50 88 1.58e1 SMART
TNFR 91 131 3.42e-3 SMART
TNFR 133 168 9.31e-5 SMART
TNFR 171 211 1.1e-1 SMART
transmembrane domain 351 370 N/A INTRINSIC
DEATH 393 498 1.41e-22 SMART
low complexity region 511 526 N/A INTRINSIC
low complexity region 562 575 N/A INTRINSIC
PDB:2DBH|A 576 655 5e-48 PDB
Meta Mutation Damage Score 0.9721 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.3%
Validation Efficiency 98% (55/56)
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 encoded protein activates nuclear factor kappa-B and mitogen-activated protein kinase 8 (also called c-Jun N-terminal kinase 1), and induces cell apoptosis. Through its death domain, the encoded receptor interacts with tumor necrosis factor receptor type 1-associated death domain (TRADD) protein, which is known to mediate signal transduction of tumor necrosis factor receptors. Knockout studies in mice suggest that this gene plays a role in T-helper cell activation, and may be involved in inflammation and immune regulation. [provided by RefSeq, Jul 2013]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired T cell differentiation and an enhanced Th2 response. Mice homozygous for a different knock-out allele show increased CD4+ T cell proliferation and Th2 cytokine production, and enhanced B cell proliferation, survival, and humoral responses. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc1 A T 16: 14,214,263 (GRCm39) T193S probably benign Het
Arhgap11a A T 2: 113,667,242 (GRCm39) L435Q probably damaging Het
Bin1 T C 18: 32,539,211 (GRCm39) V48A probably damaging Het
Brinp3 C A 1: 146,627,599 (GRCm39) D277E probably damaging Het
Btn1a1 T G 13: 23,643,434 (GRCm39) R338S probably benign Het
Cacnb4 C A 2: 52,359,501 (GRCm39) R169L probably damaging Het
Ccdc80 A G 16: 44,916,455 (GRCm39) T404A probably benign Het
Cd2ap G C 17: 43,119,690 (GRCm39) H488D probably damaging Het
Cdon A G 9: 35,375,467 (GRCm39) T498A probably benign Het
Cngb3 A G 4: 19,396,786 (GRCm39) N380D probably benign Het
Col6a5 G A 9: 105,817,033 (GRCm39) S426F unknown Het
Cr2 A T 1: 194,848,122 (GRCm39) H345Q probably damaging Het
Cttnbp2 T A 6: 18,427,452 (GRCm39) K743M probably benign Het
Depdc1b T C 13: 108,505,370 (GRCm39) S245P probably damaging Het
Dync2h1 G A 9: 7,124,825 (GRCm39) H2016Y probably benign Het
Eif2s3y G T Y: 1,012,079 (GRCm39) R98L probably benign Het
Eml6 C T 11: 29,753,167 (GRCm39) G915S probably damaging Het
Fcgr1 A G 3: 96,193,349 (GRCm39) L216P probably benign Het
Fpr-rs3 T C 17: 20,845,111 (GRCm39) N10S probably benign Het
Frem3 T C 8: 81,341,649 (GRCm39) I1314T possibly damaging Het
Gabrr3 A G 16: 59,253,864 (GRCm39) N194D probably damaging Het
Hey1 A G 3: 8,729,638 (GRCm39) L273P probably damaging Het
Irf6 A G 1: 192,850,857 (GRCm39) K365E probably benign Het
Kit A G 5: 75,769,978 (GRCm39) D130G probably benign Het
Lrp1 G A 10: 127,389,265 (GRCm39) A3217V probably damaging Het
Mei4 C T 9: 81,809,336 (GRCm39) R140C probably benign Het
Mir100hg T C 9: 41,501,570 (GRCm39) L143P probably damaging Het
Mpo A T 11: 87,688,175 (GRCm39) K278M probably benign Het
Mprip T C 11: 59,622,328 (GRCm39) probably benign Het
Mug2 G C 6: 122,040,522 (GRCm39) G691R probably benign Het
Neto2 G A 8: 86,400,747 (GRCm39) T16I probably damaging Het
Nipal4 C T 11: 46,041,473 (GRCm39) V241M probably damaging Het
Nlrp2 A T 7: 5,330,551 (GRCm39) L615* probably null Het
Pcdh1 A G 18: 38,332,511 (GRCm39) V164A probably benign Het
Phc2 T C 4: 128,641,037 (GRCm39) probably null Het
Plekhg3 A G 12: 76,620,133 (GRCm39) E623G probably damaging Het
Psors1c2 G T 17: 35,844,825 (GRCm39) G29* probably null Het
Slc25a54 A T 3: 109,019,479 (GRCm39) D361V probably damaging Het
Slc39a12 A T 2: 14,400,992 (GRCm39) H123L possibly damaging Het
Sorl1 T C 9: 41,900,764 (GRCm39) probably null Het
Strn A T 17: 78,965,369 (GRCm39) I641N probably damaging Het
Tapbp A G 17: 34,139,457 (GRCm39) E151G possibly damaging Het
Ticrr T C 7: 79,343,445 (GRCm39) probably benign Het
Ttyh1 T A 7: 4,132,317 (GRCm39) L155H probably damaging Het
Utrn T A 10: 12,587,329 (GRCm39) probably null Het
Vmn1r175 A G 7: 23,508,393 (GRCm39) V78A probably benign Het
Vmn1r73 T C 7: 11,490,682 (GRCm39) Y167H probably damaging Het
Washc1 T C 17: 66,425,123 (GRCm39) S376P probably damaging Het
Wnt10a T A 1: 74,842,656 (GRCm39) probably null Het
Xrcc4 A G 13: 90,219,752 (GRCm39) V16A probably benign Het
Zeb1 T C 18: 5,767,799 (GRCm39) V770A probably benign Het
Zfp410 A G 12: 84,385,527 (GRCm39) N90S probably damaging Het
Other mutations in Tnfrsf21
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01406:Tnfrsf21 APN 17 43,348,837 (GRCm39) missense probably damaging 1.00
IGL01663:Tnfrsf21 APN 17 43,398,702 (GRCm39) missense probably benign 0.13
IGL01811:Tnfrsf21 APN 17 43,348,504 (GRCm39) missense probably benign
IGL01916:Tnfrsf21 APN 17 43,350,694 (GRCm39) missense probably benign 0.00
IGL01934:Tnfrsf21 APN 17 43,376,078 (GRCm39) missense probably benign 0.15
IGL02184:Tnfrsf21 APN 17 43,396,354 (GRCm39) missense probably benign 0.37
IGL02292:Tnfrsf21 APN 17 43,350,802 (GRCm39) missense probably benign
IGL02385:Tnfrsf21 APN 17 43,350,942 (GRCm39) missense probably damaging 1.00
IGL02710:Tnfrsf21 APN 17 43,398,820 (GRCm39) missense probably damaging 0.97
IGL03001:Tnfrsf21 APN 17 43,398,786 (GRCm39) missense probably damaging 0.99
IGL03003:Tnfrsf21 APN 17 43,350,834 (GRCm39) missense probably damaging 1.00
PIT4480001:Tnfrsf21 UTSW 17 43,348,802 (GRCm39) missense probably benign 0.00
R0007:Tnfrsf21 UTSW 17 43,349,104 (GRCm39) missense probably benign
R0046:Tnfrsf21 UTSW 17 43,349,104 (GRCm39) missense probably benign
R0088:Tnfrsf21 UTSW 17 43,349,104 (GRCm39) missense probably benign
R0091:Tnfrsf21 UTSW 17 43,349,104 (GRCm39) missense probably benign
R0102:Tnfrsf21 UTSW 17 43,349,104 (GRCm39) missense probably benign
R0102:Tnfrsf21 UTSW 17 43,349,104 (GRCm39) missense probably benign
R0103:Tnfrsf21 UTSW 17 43,349,104 (GRCm39) missense probably benign
R0105:Tnfrsf21 UTSW 17 43,351,082 (GRCm39) critical splice donor site probably null
R0105:Tnfrsf21 UTSW 17 43,351,082 (GRCm39) critical splice donor site probably null
R0206:Tnfrsf21 UTSW 17 43,349,104 (GRCm39) missense probably benign
R0211:Tnfrsf21 UTSW 17 43,349,104 (GRCm39) missense probably benign
R0240:Tnfrsf21 UTSW 17 43,349,104 (GRCm39) missense probably benign
R0243:Tnfrsf21 UTSW 17 43,349,104 (GRCm39) missense probably benign
R0308:Tnfrsf21 UTSW 17 43,349,104 (GRCm39) missense probably benign
R0363:Tnfrsf21 UTSW 17 43,348,768 (GRCm39) missense probably benign 0.01
R0456:Tnfrsf21 UTSW 17 43,348,982 (GRCm39) missense probably benign 0.01
R0522:Tnfrsf21 UTSW 17 43,349,104 (GRCm39) missense probably benign
R0523:Tnfrsf21 UTSW 17 43,349,104 (GRCm39) missense probably benign
R0525:Tnfrsf21 UTSW 17 43,349,104 (GRCm39) missense probably benign
R0528:Tnfrsf21 UTSW 17 43,348,505 (GRCm39) missense probably benign
R0543:Tnfrsf21 UTSW 17 43,349,104 (GRCm39) missense probably benign
R0549:Tnfrsf21 UTSW 17 43,349,104 (GRCm39) missense probably benign
R0550:Tnfrsf21 UTSW 17 43,349,104 (GRCm39) missense probably benign
R0699:Tnfrsf21 UTSW 17 43,349,104 (GRCm39) missense probably benign
R0724:Tnfrsf21 UTSW 17 43,349,104 (GRCm39) missense probably benign
R0734:Tnfrsf21 UTSW 17 43,349,104 (GRCm39) missense probably benign
R0847:Tnfrsf21 UTSW 17 43,349,104 (GRCm39) missense probably benign
R0880:Tnfrsf21 UTSW 17 43,348,733 (GRCm39) nonsense probably null
R1591:Tnfrsf21 UTSW 17 43,396,265 (GRCm39) missense probably benign 0.01
R2069:Tnfrsf21 UTSW 17 43,348,829 (GRCm39) missense possibly damaging 0.67
R2153:Tnfrsf21 UTSW 17 43,398,763 (GRCm39) missense probably damaging 1.00
R2323:Tnfrsf21 UTSW 17 43,396,420 (GRCm39) nonsense probably null
R4438:Tnfrsf21 UTSW 17 43,398,733 (GRCm39) missense possibly damaging 0.49
R4509:Tnfrsf21 UTSW 17 43,396,279 (GRCm39) missense probably benign 0.00
R4510:Tnfrsf21 UTSW 17 43,375,910 (GRCm39) missense probably damaging 0.98
R4511:Tnfrsf21 UTSW 17 43,375,910 (GRCm39) missense probably damaging 0.98
R4708:Tnfrsf21 UTSW 17 43,349,123 (GRCm39) missense possibly damaging 0.66
R4721:Tnfrsf21 UTSW 17 43,396,395 (GRCm39) missense probably damaging 1.00
R4811:Tnfrsf21 UTSW 17 43,348,621 (GRCm39) missense probably benign 0.00
R5437:Tnfrsf21 UTSW 17 43,348,753 (GRCm39) missense possibly damaging 0.55
R5767:Tnfrsf21 UTSW 17 43,348,550 (GRCm39) missense probably damaging 0.98
R6057:Tnfrsf21 UTSW 17 43,350,606 (GRCm39) missense possibly damaging 0.86
R6392:Tnfrsf21 UTSW 17 43,327,979 (GRCm39) missense probably benign 0.00
R6860:Tnfrsf21 UTSW 17 43,327,957 (GRCm39) missense probably benign
R7253:Tnfrsf21 UTSW 17 43,348,558 (GRCm39) missense probably benign 0.00
R7288:Tnfrsf21 UTSW 17 43,348,709 (GRCm39) missense possibly damaging 0.86
R7643:Tnfrsf21 UTSW 17 43,348,807 (GRCm39) missense probably benign 0.00
R7937:Tnfrsf21 UTSW 17 43,348,816 (GRCm39) missense probably benign 0.01
R8098:Tnfrsf21 UTSW 17 43,350,790 (GRCm39) missense probably benign
R8495:Tnfrsf21 UTSW 17 43,349,128 (GRCm39) missense probably benign
R8865:Tnfrsf21 UTSW 17 43,396,372 (GRCm39) missense probably damaging 1.00
R8991:Tnfrsf21 UTSW 17 43,396,299 (GRCm39) missense probably benign 0.03
R9088:Tnfrsf21 UTSW 17 43,348,607 (GRCm39) missense probably damaging 1.00
R9150:Tnfrsf21 UTSW 17 43,398,691 (GRCm39) missense probably damaging 1.00
R9220:Tnfrsf21 UTSW 17 43,398,801 (GRCm39) missense probably damaging 1.00
V3553:Tnfrsf21 UTSW 17 43,348,822 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- ACTGTAGTCAGCCATGTCCATG -3'
(R):5'- GACATCGTGGGATTCCATATGC -3'

Sequencing Primer
(F):5'- TCCATGGCCGATGATTGAGAGATTAC -3'
(R):5'- ATCGTGGGATTCCATATGCTCAGG -3'
Posted On 2015-04-17