Incidental Mutation 'R9376:Tnfrsf18'
ID 709610
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 # R9376 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 156110779-156113351 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 156112448 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Serine at position 102 (A102S)
Ref Sequence ENSEMBL: ENSMUSP00000113277 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040274] [ENSMUST00000103173] [ENSMUST00000122001]
AlphaFold O35714
Predicted Effect probably benign
Transcript: ENSMUST00000040274
AA Change: A102S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000040035
Gene: ENSMUSG00000041954
AA Change: A102S

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
AA Change: A102S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000099462
Gene: ENSMUSG00000041954
AA Change: A102S

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 probably benign
Transcript: ENSMUST00000122001
AA Change: A102S

PolyPhen 2 Score 0.152 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000113277
Gene: ENSMUSG00000041954
AA Change: A102S

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: 98.9%
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
Abca14 T A 7: 119,893,438 (GRCm39) L1296H probably damaging Het
Abcb4 A T 5: 9,008,988 (GRCm39) D1215V probably damaging Het
Ache A C 5: 137,289,025 (GRCm39) I244L probably benign Het
Ankrd13d A T 19: 4,332,250 (GRCm39) V58D probably damaging Het
Ano3 A G 2: 110,496,782 (GRCm39) L789S probably damaging Het
Atp2a3 T C 11: 72,863,290 (GRCm39) V129A probably damaging Het
Cldn11 T C 3: 31,217,410 (GRCm39) S193P possibly damaging Het
Clpb A T 7: 101,360,625 (GRCm39) R218S probably benign Het
Cntln A G 4: 84,875,258 (GRCm39) S231G probably benign Het
Cntn4 T C 6: 106,639,591 (GRCm39) Y574H probably damaging Het
Col6a3 C T 1: 90,709,523 (GRCm39) R2498H unknown Het
Ctdnep1 T C 11: 69,875,594 (GRCm39) V108A probably damaging Het
Cyp2c67 A T 19: 39,627,178 (GRCm39) N217K probably damaging Het
Dao T A 5: 114,147,901 (GRCm39) M1K probably null Het
Dchs1 A G 7: 105,414,981 (GRCm39) probably null Het
Dennd4a A T 9: 64,819,974 (GRCm39) I1809L probably benign Het
Dnah7a T A 1: 53,568,058 (GRCm39) probably null Het
Epn1 A T 7: 5,086,720 (GRCm39) probably benign Het
Erich1 A G 8: 14,080,719 (GRCm39) S267P probably damaging Het
Gm17732 G T 18: 62,795,936 (GRCm39) V41L probably damaging Het
Gpaa1 C A 15: 76,218,826 (GRCm39) T556K possibly damaging Het
Gpr65 T A 12: 98,241,523 (GRCm39) S59T probably damaging Het
Hydin T C 8: 111,124,695 (GRCm39) V568A possibly damaging Het
Ifi205 T C 1: 173,854,221 (GRCm39) D144G probably benign Het
Itga1 T C 13: 115,107,112 (GRCm39) H993R probably benign Het
Itgax T C 7: 127,747,935 (GRCm39) L1075P possibly damaging Het
Itpr1 T A 6: 108,326,638 (GRCm39) V120E probably damaging Het
Kdm3b T C 18: 34,970,718 (GRCm39) S1762P probably damaging Het
Krt80 T A 15: 101,247,978 (GRCm39) T221S unknown Het
Lama2 T C 10: 26,994,620 (GRCm39) D1763G probably benign Het
Lrp5 T C 19: 3,670,286 (GRCm39) D606G probably benign Het
Map6d1 T C 16: 20,059,933 (GRCm39) D44G probably benign Het
Mtmr11 T A 3: 96,072,372 (GRCm39) I282K probably benign Het
Nalcn G A 14: 123,515,713 (GRCm39) T1696M possibly damaging Het
Nup214 T C 2: 31,924,244 (GRCm39) V1591A probably benign Het
Oas1f C A 5: 120,986,243 (GRCm39) Y65* probably null Het
Or1x6 T A 11: 50,939,662 (GRCm39) C243S probably damaging Het
Or2t43 T A 11: 58,457,683 (GRCm39) T163S possibly damaging Het
Or2t46 T C 11: 58,472,636 (GRCm39) V322A probably benign Het
Or51f1e A T 7: 102,746,971 (GRCm39) T8S probably benign Het
Or5p58 A T 7: 107,694,471 (GRCm39) I102K possibly damaging Het
Palld C T 8: 61,969,691 (GRCm39) R1211H unknown Het
Pigyl A G 9: 22,069,324 (GRCm39) I12V probably benign Het
Pno1 A T 11: 17,158,791 (GRCm39) D202E probably benign Het
Ppp5c A T 7: 16,743,849 (GRCm39) M195K probably damaging Het
Prrc2a A T 17: 35,369,598 (GRCm39) F1905Y possibly damaging Het
Ptpn11 C A 5: 121,282,681 (GRCm39) D435Y probably damaging Het
Rbm33 A G 5: 28,544,164 (GRCm39) Y140C probably damaging Het
Runx1t1 A G 4: 13,865,225 (GRCm39) E339G possibly damaging Het
Scube3 G T 17: 28,383,670 (GRCm39) K480N possibly damaging Het
Sephs1 T A 2: 4,910,469 (GRCm39) M313K probably benign Het
Tcaim T C 9: 122,655,995 (GRCm39) W304R probably damaging Het
Terf2ip C T 8: 112,738,514 (GRCm39) T134I probably damaging Het
Terf2ip A G 8: 112,744,528 (GRCm39) T282A probably benign Het
Trim10 A T 17: 37,184,168 (GRCm39) I254F probably benign Het
Triqk A G 4: 12,962,987 (GRCm39) T9A probably benign Het
Tshz2 G A 2: 169,726,013 (GRCm39) S203N probably benign Het
Zc3h13 G A 14: 75,561,128 (GRCm39) V573I unknown Het
Zfhx4 A G 3: 5,306,833 (GRCm39) K20E probably damaging Het
Zfhx4 A G 3: 5,465,395 (GRCm39) D1876G probably benign 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
R9573:Tnfrsf18 UTSW 4 156,112,484 (GRCm39) missense possibly damaging 0.95
R9609:Tnfrsf18 UTSW 4 156,113,208 (GRCm39) missense possibly damaging 0.92
Predicted Primers PCR Primer
(F):5'- CAGTTCTAGAATAGGCACACATGG -3'
(R):5'- TGGGACACAGACAGACACTG -3'

Sequencing Primer
(F):5'- TTCTAGAATAGGCACACATGGTAAGC -3'
(R):5'- CAGACACTGTCAGGATTGGTTACC -3'
Posted On 2022-04-18