Incidental Mutation 'R2961:Trbv13-2'
Institutional Source Beutler Lab
Gene Symbol Trbv13-2
Ensembl Gene ENSMUSG00000076469
Gene NameT cell receptor beta, variable 13-2
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.038) question?
Stock #R2961 (G1)
Quality Score225
Status Not validated
Chromosomal Location41121396-41121832 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 41121640 bp
Amino Acid Change Methionine to Leucine at position 50 (M50L)
Ref Sequence ENSEMBL: ENSMUSP00000100086 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103269] [ENSMUST00000103270]
Predicted Effect probably benign
Transcript: ENSMUST00000103269
SMART Domains Protein: ENSMUSP00000100085
Gene: ENSMUSG00000094525

signal peptide 1 29 N/A INTRINSIC
Pfam:V-set 30 124 4.3e-14 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000103270
AA Change: M50L

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000100086
Gene: ENSMUSG00000076469
AA Change: M50L

signal peptide 1 20 N/A INTRINSIC
IGv 36 111 8.2e-10 SMART
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.3%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-in allele exhibit abnormal T cell differentiation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 15 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akna A G 4: 63,394,944 V314A probably benign Het
Cdk5rap2 ATGTG ATG 4: 70,289,977 probably null Het
Cyp4a10 C A 4: 115,520,270 A118E probably benign Het
Dpys A G 15: 39,784,614 M515T probably benign Het
Eri2 T C 7: 119,785,344 T645A probably benign Het
Gpd2 C T 2: 57,338,975 R264* probably null Het
Kirrel C T 3: 87,089,151 M380I probably null Het
Klk14 G A 7: 43,692,077 C51Y probably damaging Het
Mmp27 G T 9: 7,573,602 D232Y probably damaging Het
Mybpc1 T C 10: 88,531,779 D876G probably damaging Het
Rin3 C A 12: 102,313,046 S38* probably null Het
Sptb T C 12: 76,603,582 D1787G probably benign Het
Ubxn1 T A 19: 8,873,803 V164D probably damaging Het
Zfp608 T C 18: 54,898,472 T799A possibly damaging Het
Zfr G A 15: 12,162,233 R823H probably benign Het
Other mutations in Trbv13-2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02799:Trbv13-2 UTSW 6 41121537 critical splice acceptor site probably benign
PIT4354001:Trbv13-2 UTSW 6 41121818 missense probably damaging 1.00
R4109:Trbv13-2 UTSW 6 41121644 missense probably benign 0.22
R5104:Trbv13-2 UTSW 6 41121811 missense probably damaging 1.00
R5656:Trbv13-2 UTSW 6 41121694 missense probably benign 0.02
R7754:Trbv13-2 UTSW 6 41121700 missense probably benign 0.02
R7839:Trbv13-2 UTSW 6 41121587 missense probably benign 0.00
R7922:Trbv13-2 UTSW 6 41121587 missense probably benign 0.00
R8048:Trbv13-2 UTSW 6 41121559 missense probably damaging 0.96
Predicted Primers
Posted On2017-05-15