Incidental Mutation 'R3794:Trgv5'
ID 473627
Institutional Source Beutler Lab
Gene Symbol Trgv5
Ensembl Gene ENSMUSG00000076747
Gene Name T cell receptor gamma, variable 5
Synonyms Tcrg-V5
MMRRC Submission 040756-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.087) question?
Stock # R3794 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 19376448-19376895 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 19376694 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 47 (H47L)
Ref Sequence ENSEMBL: ENSMUSP00000143714 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103555] [ENSMUST00000103556] [ENSMUST00000198330] [ENSMUST00000199017]
AlphaFold A0A075B5Y9
Predicted Effect probably benign
Transcript: ENSMUST00000103555
SMART Domains Protein: ENSMUSP00000100336
Gene: ENSMUSG00000076746

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
IG 40 134 2.94e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000103556
AA Change: H31L

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000100337
Gene: ENSMUSG00000076747
AA Change: H31L

DomainStartEndE-ValueType
IGv 18 95 3.3e-13 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197661
Predicted Effect probably benign
Transcript: ENSMUST00000198330
SMART Domains Protein: ENSMUSP00000142811
Gene: ENSMUSG00000076746

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
IG 27 121 1.2e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000199017
AA Change: H47L

PolyPhen 2 Score 0.305 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000143714
Gene: ENSMUSG00000076747
AA Change: H47L

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
IGv 34 111 1.4e-15 SMART
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency 97% (37/38)
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy6 C T 15: 98,496,824 (GRCm39) V482I probably damaging Het
Adgrv1 T A 13: 81,431,486 (GRCm39) M1L probably damaging Het
Ceacam13 A G 7: 17,747,340 (GRCm39) *264W probably null Het
Dennd5b A T 6: 149,002,715 (GRCm39) D31E possibly damaging Het
Dip2c T C 13: 9,654,597 (GRCm39) V706A probably damaging Het
Enpp3 T C 10: 24,707,630 (GRCm39) probably null Het
Exoc4 T G 6: 33,452,932 (GRCm39) V474G probably benign Het
F2rl1 A G 13: 95,649,719 (GRCm39) Y388H unknown Het
Fasl T C 1: 161,609,306 (GRCm39) R17G probably benign Het
Htr1a G A 13: 105,580,852 (GRCm39) V31M possibly damaging Het
Inpp4b T C 8: 82,759,845 (GRCm39) V445A probably damaging Het
Itih3 T C 14: 30,640,351 (GRCm39) Y319C probably damaging Het
Katnip A G 7: 125,419,261 (GRCm39) N476S probably benign Het
Kmt2d T C 15: 98,735,240 (GRCm39) probably benign Het
Mobp A T 9: 119,997,033 (GRCm39) K55* probably null Het
Ndufaf5 T A 2: 140,044,843 (GRCm39) M279K possibly damaging Het
Nlrc3 T C 16: 3,765,739 (GRCm39) I1057V probably benign Het
Or10al7 A G 17: 38,365,786 (GRCm39) Y224H probably damaging Het
Or4c112 G T 2: 88,853,770 (GRCm39) H192Q probably benign Het
Piezo2 C T 18: 63,214,864 (GRCm39) R1257Q probably damaging Het
Pigv A G 4: 133,392,502 (GRCm39) S223P possibly damaging Het
Pkdcc A G 17: 83,531,382 (GRCm39) T464A probably damaging Het
Polr2k A G 15: 36,175,193 (GRCm39) I18V probably damaging Het
Pon3 A G 6: 5,221,578 (GRCm39) Y351H probably benign Het
Rsf1 ATGGCG ATGGCGACGGTGGCG 7: 97,229,111 (GRCm39) probably benign Het
Scaf8 A G 17: 3,240,524 (GRCm39) E632G probably damaging Het
Smurf1 A G 5: 144,837,985 (GRCm39) probably null Het
Tex16 T G X: 111,150,375 (GRCm39) M1R probably null Het
Tln1 G T 4: 43,536,295 (GRCm39) A1999D probably damaging Het
Ttn C T 2: 76,772,781 (GRCm39) V2405I possibly damaging Het
Vps13d G A 4: 144,812,007 (GRCm39) probably benign Het
Xrcc1 A G 7: 24,269,985 (GRCm39) T469A probably benign Het
Zfp287 G T 11: 62,605,070 (GRCm39) H612Q probably damaging Het
Zfp352 C T 4: 90,113,386 (GRCm39) H509Y probably damaging Het
Other mutations in Trgv5
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0016:Trgv5 UTSW 13 19,376,889 (GRCm39) nonsense probably null
R4788:Trgv5 UTSW 13 19,376,724 (GRCm39) missense probably benign 0.35
R5099:Trgv5 UTSW 13 19,376,886 (GRCm39) missense probably damaging 0.99
R5397:Trgv5 UTSW 13 19,376,728 (GRCm39) missense possibly damaging 0.85
R5735:Trgv5 UTSW 13 19,376,695 (GRCm39) missense probably benign 0.18
R7848:Trgv5 UTSW 13 19,376,849 (GRCm39) missense probably damaging 1.00
R9525:Trgv5 UTSW 13 19,376,885 (GRCm39) missense probably damaging 1.00
Predicted Primers
Posted On 2017-04-14