Incidental Mutation 'R3794:Tcrg-V5'
Institutional Source Beutler Lab
Gene Symbol Tcrg-V5
Ensembl Gene ENSMUSG00000076747
Gene NameT cell receptor gamma, variable 5
MMRRC Submission 040756-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.127) question?
Stock #R3794 (G1)
Quality Score225
Status Not validated
Chromosomal Location19192433-19192725 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 19192524 bp
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]
Predicted Effect probably benign
Transcript: ENSMUST00000103555
SMART Domains Protein: ENSMUSP00000100336
Gene: ENSMUSG00000076746

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

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

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

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
4933403O08Rik T G X: 112,240,678 M1R probably null Het
Adcy6 C T 15: 98,598,943 V482I probably damaging Het
Adgrv1 T A 13: 81,283,367 M1L probably damaging Het
Ceacam13 A G 7: 18,013,415 *264W probably null Het
D430042O09Rik A G 7: 125,820,089 N476S probably benign Het
Dennd5b A T 6: 149,101,217 D31E possibly damaging Het
Dip2c T C 13: 9,604,561 V706A probably damaging Het
Enpp3 T C 10: 24,831,732 probably null Het
Exoc4 T G 6: 33,475,997 V474G probably benign Het
F2rl1 A G 13: 95,513,211 Y388H unknown Het
Fasl T C 1: 161,781,737 R17G probably benign Het
Htr1a G A 13: 105,444,344 V31M possibly damaging Het
Inpp4b T C 8: 82,033,216 V445A probably damaging Het
Itih3 T C 14: 30,918,394 Y319C probably damaging Het
Kmt2d T C 15: 98,837,359 probably benign Het
Mobp A T 9: 120,167,967 K55* probably null Het
Ndufaf5 T A 2: 140,202,923 M279K possibly damaging Het
Nlrc3 T C 16: 3,947,875 I1057V probably benign Het
Olfr1217 G T 2: 89,023,426 H192Q probably benign Het
Olfr129 A G 17: 38,054,895 Y224H probably damaging Het
Piezo2 C T 18: 63,081,793 R1257Q probably damaging Het
Pigv A G 4: 133,665,191 S223P possibly damaging Het
Pkdcc A G 17: 83,223,953 T464A probably damaging Het
Polr2k A G 15: 36,175,047 I18V probably damaging Het
Pon3 A G 6: 5,221,578 Y351H probably benign Het
Rsf1 ATGGCG ATGGCGACGGTGGCG 7: 97,579,904 probably benign Het
Scaf8 A G 17: 3,190,249 E632G probably damaging Het
Smurf1 A G 5: 144,901,175 probably null Het
Tln1 G T 4: 43,536,295 A1999D probably damaging Het
Ttn C T 2: 76,942,437 V2405I possibly damaging Het
Vps13d G A 4: 145,085,437 probably benign Het
Xrcc1 A G 7: 24,570,560 T469A probably benign Het
Zfp287 G T 11: 62,714,244 H612Q probably damaging Het
Zfp352 C T 4: 90,225,149 H509Y probably damaging Het
Other mutations in Tcrg-V5
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0016:Tcrg-V5 UTSW 13 19192719 nonsense probably null
R4788:Tcrg-V5 UTSW 13 19192554 missense probably benign 0.35
R5099:Tcrg-V5 UTSW 13 19192716 missense probably damaging 0.99
R5397:Tcrg-V5 UTSW 13 19192558 missense possibly damaging 0.85
R5735:Tcrg-V5 UTSW 13 19192525 missense probably benign 0.18
R7848:Tcrg-V5 UTSW 13 19192679 missense probably damaging 1.00
Predicted Primers
Posted On2017-04-14