Incidental Mutation 'R9609:Tnfrsf18'
ID 724085
Institutional Source Beutler Lab
Gene Symbol Tnfrsf18
Ensembl Gene ENSMUSG00000041954
Gene Name tumor necrosis factor receptor superfamily, member 18
Synonyms Gitr
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9609 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 156110779-156113351 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 156113208 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 298 (V298E)
Ref Sequence ENSEMBL: ENSMUSP00000113277 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040274] [ENSMUST00000103173] [ENSMUST00000122001]
AlphaFold O35714
Predicted Effect probably benign
Transcript: ENSMUST00000040274
SMART Domains Protein: ENSMUSP00000040035
Gene: ENSMUSG00000041954

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Blast:TNFR 29 62 2e-6 BLAST
EGF 76 117 2.29e1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000103173
SMART Domains Protein: ENSMUSP00000099462
Gene: ENSMUSG00000041954

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
TNFR 62 100 2.92e1 SMART
EGF 76 117 2.29e1 SMART
TNFR 103 141 5.56e-3 SMART
transmembrane domain 156 178 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000122001
AA Change: V298E

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000113277
Gene: ENSMUSG00000041954
AA Change: V298E

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
TNFR 62 100 2.92e1 SMART
EGF 76 117 2.29e1 SMART
TNFR 103 141 5.56e-3 SMART
transmembrane domain 156 178 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
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 TNF-receptor superfamily. The encoded receptor has been shown to have increased expression upon T-cell activation, and it is thought to play a key role in dominant immunological self-tolerance maintained by CD25(+)CD4(+) regulatory T cells. Knockout studies in mice also suggest the role of this receptor is in the regulation of CD3-driven T-cell activation and programmed cell death. Three alternatively spliced transcript variants of this gene encoding distinct isoforms have been reported. [provided by RefSeq, Feb 2011]
PHENOTYPE: Mice homozygous for a targeted mutation display dysregulation of T-cell receptor/CD3-driven T-cell activation and programmed cell death. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T C 11: 9,208,549 (GRCm39) S241P probably damaging Het
Adam23 A T 1: 63,576,102 (GRCm39) M295L probably benign Het
Ano8 T A 8: 71,933,726 (GRCm39) D522V unknown Het
Asgr2 T C 11: 69,988,667 (GRCm39) L120P probably damaging Het
Atp5mc2 A G 15: 102,573,580 (GRCm39) F79L probably damaging Het
Baiap2 C T 11: 119,847,958 (GRCm39) R29C probably damaging Het
Bicdl2 A G 17: 23,884,513 (GRCm39) E145G Het
Cad T C 5: 31,228,018 (GRCm39) probably null Het
Dhrs7b A G 11: 60,735,121 (GRCm39) R51G possibly damaging Het
Dnah3 A T 7: 119,670,236 (GRCm39) Y694N probably damaging Het
Dnaja4 G A 9: 54,616,644 (GRCm39) G216S probably null Het
Dync1h1 T C 12: 110,607,362 (GRCm39) V2651A probably benign Het
Fbxw28 T C 9: 109,167,515 (GRCm39) T81A probably benign Het
Fga A T 3: 82,940,064 (GRCm39) I573F probably damaging Het
Fgd6 T A 10: 93,879,674 (GRCm39) I176N probably damaging Het
Fhl5 A T 4: 25,214,653 (GRCm39) C41* probably null Het
Fibcd1 A G 2: 31,728,653 (GRCm39) V68A probably benign Het
Fign T C 2: 63,810,286 (GRCm39) D328G probably benign Het
Gtpbp10 A C 5: 5,607,396 (GRCm39) F15C probably damaging Het
Hmcn1 A T 1: 150,555,346 (GRCm39) V2475D probably damaging Het
Iglv3 A G 16: 19,060,221 (GRCm39) S36P probably damaging Het
Igsf10 G T 3: 59,226,869 (GRCm39) T2268N probably damaging Het
Krt75 A G 15: 101,474,677 (GRCm39) I473T probably benign Het
Lcn3 A G 2: 25,657,596 (GRCm39) E162G possibly damaging Het
Lnpk A G 2: 74,401,298 (GRCm39) V17A probably damaging Het
Malrd1 A G 2: 15,700,081 (GRCm39) S643G unknown Het
Mcm5 C T 8: 75,844,168 (GRCm39) S313F probably benign Het
Mlip T A 9: 77,045,797 (GRCm39) L894F possibly damaging Het
Muc4 A T 16: 32,577,234 (GRCm39) T175S Het
Nkpd1 A C 7: 19,257,462 (GRCm39) I414L possibly damaging Het
Nrxn2 C A 19: 6,540,203 (GRCm39) N834K probably damaging Het
Oacyl A G 18: 65,843,599 (GRCm39) T99A probably benign Het
Patj T G 4: 98,576,473 (GRCm39) F570L probably benign Het
Piwil4 T C 9: 14,614,443 (GRCm39) T107A Het
Ppp1r12b G A 1: 134,824,084 (GRCm39) Q180* probably null Het
Prpf4b A G 13: 35,068,032 (GRCm39) D287G unknown Het
Rab17 T C 1: 90,891,907 (GRCm39) Y39C probably damaging Het
Rbsn T A 6: 92,179,565 (GRCm39) I125F probably damaging Het
Rnf207 C A 4: 152,402,222 (GRCm39) G74C probably damaging Het
Rrs1 T C 1: 9,616,518 (GRCm39) L257P probably benign Het
Ryr2 T C 13: 11,683,848 (GRCm39) E3072G probably damaging Het
Scn8a A C 15: 100,834,407 (GRCm39) I68L possibly damaging Het
Slc14a1 C A 18: 78,152,807 (GRCm39) A367S probably damaging Het
Slc26a7 T A 4: 14,532,636 (GRCm39) I413F probably damaging Het
Slc4a11 T A 2: 130,530,035 (GRCm39) T248S possibly damaging Het
Spen A G 4: 141,215,419 (GRCm39) I471T unknown Het
Tbpl2 C T 2: 23,977,197 (GRCm39) D274N probably damaging Het
Timm23 A G 14: 31,902,543 (GRCm39) M200T probably benign Het
Tlr3 T C 8: 45,850,117 (GRCm39) I851V probably benign Het
Trav6-3 A G 14: 53,667,618 (GRCm39) N41S possibly damaging Het
Trim17 C A 11: 58,855,964 (GRCm39) A7D probably damaging Het
Ttbk1 T C 17: 46,758,148 (GRCm39) T829A probably damaging Het
Ugt3a1 A C 15: 9,361,905 (GRCm39) E227A probably damaging Het
Vmn1r218 C T 13: 23,320,839 (GRCm39) T62I probably benign Het
Vmn2r100 T C 17: 19,743,732 (GRCm39) L465P probably damaging Het
Vps13c A T 9: 67,841,831 (GRCm39) Q1951L probably damaging Het
Wdcp A G 12: 4,900,258 (GRCm39) D38G probably damaging Het
Xdh T A 17: 74,231,990 (GRCm39) Q240L possibly damaging Het
Zc3h4 T A 7: 16,150,751 (GRCm39) V23D unknown Het
Zkscan8 C A 13: 21,709,434 (GRCm39) V155F possibly damaging Het
Other mutations in Tnfrsf18
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01360:Tnfrsf18 APN 4 156,112,493 (GRCm39) nonsense probably null
R0100:Tnfrsf18 UTSW 4 156,112,823 (GRCm39) missense probably benign 0.15
R0100:Tnfrsf18 UTSW 4 156,112,823 (GRCm39) missense probably benign 0.15
R0311:Tnfrsf18 UTSW 4 156,110,872 (GRCm39) missense possibly damaging 0.95
R0624:Tnfrsf18 UTSW 4 156,110,986 (GRCm39) missense possibly damaging 0.94
R1158:Tnfrsf18 UTSW 4 156,112,739 (GRCm39) missense probably benign 0.29
R2117:Tnfrsf18 UTSW 4 156,112,973 (GRCm39) missense probably damaging 0.99
R2909:Tnfrsf18 UTSW 4 156,112,727 (GRCm39) missense probably damaging 1.00
R4610:Tnfrsf18 UTSW 4 156,106,337 (GRCm39) unclassified probably benign
R5307:Tnfrsf18 UTSW 4 156,112,881 (GRCm39) critical splice donor site probably null
R6571:Tnfrsf18 UTSW 4 156,112,776 (GRCm39) nonsense probably null
R7111:Tnfrsf18 UTSW 4 156,113,168 (GRCm39) missense probably damaging 0.97
R8058:Tnfrsf18 UTSW 4 156,112,802 (GRCm39) missense probably benign 0.29
R9376:Tnfrsf18 UTSW 4 156,112,448 (GRCm39) missense probably benign 0.15
R9573:Tnfrsf18 UTSW 4 156,112,484 (GRCm39) missense possibly damaging 0.95
Predicted Primers PCR Primer
(F):5'- TTCCAGTTCCCTGAGGAGGAAC -3'
(R):5'- TCCCTCAATGCAACTCTGGG -3'

Sequencing Primer
(F):5'- CCTGAGGAGGAACGCGGG -3'
(R):5'- AATGCAACTCTGGGCTCCTTC -3'
Posted On 2022-09-12