Incidental Mutation 'R3718:Trdv2-1'
ID 475932
Institutional Source Beutler Lab
Gene Symbol Trdv2-1
Ensembl Gene ENSMUSG00000076865
Gene Name T cell receptor delta variable 2-1
Synonyms ENSMUSG00000068352
MMRRC Submission 040710-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.094) question?
Stock # R3718 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 54183530-54184117 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 54183995 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 76 (Y76H)
Ref Sequence ENSEMBL: ENSMUSP00000143506 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103677] [ENSMUST00000197130]
AlphaFold A0A075B658
Predicted Effect probably benign
Transcript: ENSMUST00000103677
AA Change: Y75H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000100454
Gene: ENSMUSG00000076865
AA Change: Y75H

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
IGv 37 112 6.65e-9 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000197130
AA Change: Y76H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000143506
Gene: ENSMUSG00000076865
AA Change: Y76H

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
IGv 38 113 2.8e-11 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198142
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.4%
Validation Efficiency 97% (36/37)
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abra T C 15: 41,729,689 (GRCm39) D237G probably benign Het
Alas2 T C X: 149,343,726 (GRCm39) probably benign Het
Ano6 A G 15: 95,811,260 (GRCm39) D120G probably damaging Het
Aspm T C 1: 139,408,627 (GRCm39) Y2505H probably benign Het
Aspm G A 1: 139,418,165 (GRCm39) V2965I probably benign Het
Ccna2 A T 3: 36,620,387 (GRCm39) V285E probably benign Het
Dab1 C T 4: 104,588,948 (GRCm39) A524V probably benign Het
Dnajc10 A G 2: 80,155,089 (GRCm39) probably benign Het
Dpp3 A G 19: 4,973,093 (GRCm39) probably null Het
Gng11 G A 6: 4,008,078 (GRCm39) R47H probably benign Het
Hivep1 C T 13: 42,311,971 (GRCm39) H1404Y probably damaging Het
Il18r1 A G 1: 40,534,948 (GRCm39) E381G probably benign Het
Il9 G A 13: 56,627,264 (GRCm39) T116I probably damaging Het
Kcnh1 A G 1: 191,921,107 (GRCm39) T129A probably damaging Het
Mroh7 T C 4: 106,561,407 (GRCm39) E612G probably benign Het
Nav1 A T 1: 135,378,368 (GRCm39) I1653K probably damaging Het
Neb T C 2: 52,167,482 (GRCm39) E1948G probably damaging Het
Ntsr1 T C 2: 180,184,499 (GRCm39) F401L probably benign Het
Nup210 A T 6: 90,997,162 (GRCm39) D1626E probably benign Het
Or10q12 A G 19: 13,746,428 (GRCm39) R241G probably damaging Het
Or4k35 A G 2: 111,100,571 (GRCm39) V47A probably benign Het
Or8g26 A G 9: 39,096,361 (GRCm39) R293G probably damaging Het
Pign A G 1: 105,577,006 (GRCm39) probably null Het
Rad54l2 A G 9: 106,570,726 (GRCm39) V1198A probably benign Het
Sh3tc2 T C 18: 62,123,414 (GRCm39) V725A probably benign Het
Skint10 A T 4: 112,603,936 (GRCm39) W84R probably damaging Het
Slc40a1 G T 1: 45,950,151 (GRCm39) H434N probably benign Het
Trim43c T C 9: 88,727,030 (GRCm39) S286P probably benign Het
Ttn G A 2: 76,575,558 (GRCm39) P25112S probably damaging Het
Ubac1 C T 2: 25,904,953 (GRCm39) R95H probably damaging Het
Vps13d A G 4: 144,802,296 (GRCm39) I405T probably damaging Het
Zc3hav1l G T 6: 38,272,060 (GRCm39) S236R probably damaging Het
Other mutations in Trdv2-1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02166:Trdv2-1 APN 14 54,184,068 (GRCm39) missense probably benign 0.01
R5213:Trdv2-1 UTSW 14 54,183,863 (GRCm39) missense probably benign 0.42
R6265:Trdv2-1 UTSW 14 54,183,842 (GRCm39) missense probably benign 0.01
R6605:Trdv2-1 UTSW 14 54,183,999 (GRCm39) missense possibly damaging 0.90
R7423:Trdv2-1 UTSW 14 54,183,935 (GRCm39) missense probably damaging 1.00
R8535:Trdv2-1 UTSW 14 54,183,972 (GRCm39) missense probably damaging 1.00
R9312:Trdv2-1 UTSW 14 54,183,570 (GRCm39) missense probably benign
R9332:Trdv2-1 UTSW 14 54,183,848 (GRCm39) missense probably benign
Predicted Primers
Posted On 2017-05-11