Incidental Mutation 'R4239:Trbv12-2'
ID 321252
Institutional Source Beutler Lab
Gene Symbol Trbv12-2
Ensembl Gene ENSMUSG00000094525
Gene Name T cell receptor beta, variable 12-2
Synonyms Tcrb-V5.1
MMRRC Submission 041056-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.083) question?
Stock # R4239 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 41095798-41096298 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 41095831 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 12 (N12D)
Ref Sequence ENSEMBL: ENSMUSP00000100085 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103267] [ENSMUST00000103268] [ENSMUST00000103269] [ENSMUST00000103270] [ENSMUST00000194399]
AlphaFold A0A0B4J1H1
Predicted Effect probably benign
Transcript: ENSMUST00000103267
SMART Domains Protein: ENSMUSP00000100083
Gene: ENSMUSG00000095574

DomainStartEndE-ValueType
signal peptide 1 29 N/A INTRINSIC
Pfam:V-set 30 124 9.5e-14 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000103268
SMART Domains Protein: ENSMUSP00000100084
Gene: ENSMUSG00000076467

DomainStartEndE-ValueType
IGv 34 109 2.13e-7 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000103269
AA Change: N12D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000100085
Gene: ENSMUSG00000094525
AA Change: N12D

DomainStartEndE-ValueType
signal peptide 1 29 N/A INTRINSIC
Pfam:V-set 30 124 4.3e-14 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000103270
SMART Domains Protein: ENSMUSP00000100086
Gene: ENSMUSG00000076469

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
IGv 36 111 8.2e-10 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000194399
SMART Domains Protein: ENSMUSP00000142225
Gene: ENSMUSG00000076467

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
IGv 35 110 8.9e-10 SMART
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency 95% (55/58)
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930563M21Rik T C 9: 55,888,126 (GRCm39) D397G probably benign Het
Alpk2 T A 18: 65,433,212 (GRCm39) I1765F probably damaging Het
Ano5 T A 7: 51,237,414 (GRCm39) I696N probably damaging Het
Areg A T 5: 91,291,375 (GRCm39) N106I probably damaging Het
Atad2b A G 12: 5,035,710 (GRCm39) N759D probably benign Het
B4galnt4 T C 7: 140,641,239 (GRCm39) L18P probably damaging Het
Boc T C 16: 44,312,247 (GRCm39) D605G probably damaging Het
Cfap46 G T 7: 139,246,203 (GRCm39) Q387K possibly damaging Het
Cfap74 C A 4: 155,547,529 (GRCm39) H1238Q probably benign Het
Clip2 A G 5: 134,564,051 (GRCm39) probably benign Het
Cog4 T C 8: 111,585,244 (GRCm39) I303T probably damaging Het
Col18a1 C T 10: 76,932,001 (GRCm39) V363I unknown Het
Crip3 A T 17: 46,742,156 (GRCm39) K184* probably null Het
Ddi1 A G 9: 6,265,799 (GRCm39) M190T probably benign Het
Dnah3 G A 7: 119,628,248 (GRCm39) Q1459* probably null Het
Dpp8 A G 9: 64,962,205 (GRCm39) D415G probably benign Het
Ehhadh T G 16: 21,581,438 (GRCm39) D518A probably damaging Het
Erbb2 A G 11: 98,318,869 (GRCm39) K549R probably benign Het
Fbxl3 G A 14: 103,326,854 (GRCm39) S176L probably damaging Het
Gm1979 T C 5: 26,206,119 (GRCm39) T154A probably benign Het
Gm6871 G T 7: 41,195,204 (GRCm39) T511K probably damaging Het
Gtf2h1 C T 7: 46,454,489 (GRCm39) A157V probably benign Het
Hexb T C 13: 97,313,259 (GRCm39) probably benign Het
Ifi214 A T 1: 173,352,509 (GRCm39) S307T possibly damaging Het
Ighv3-4 A T 12: 114,217,533 (GRCm39) D19E probably benign Het
Klk6 A G 7: 43,478,597 (GRCm39) H168R probably benign Het
Large2 A G 2: 92,196,950 (GRCm39) probably benign Het
Myo5c T C 9: 75,191,224 (GRCm39) I1086T probably benign Het
Nes C A 3: 87,886,666 (GRCm39) P1598T probably damaging Het
Or13a25 A G 7: 140,247,496 (GRCm39) N99D probably benign Het
Or51f1d T C 7: 102,701,003 (GRCm39) V166A probably benign Het
Or5g25 T A 2: 85,478,647 (GRCm39) Q6L probably damaging Het
Otud7a A G 7: 63,300,702 (GRCm39) D47G probably damaging Het
Phactr1 T A 13: 43,248,363 (GRCm39) N437K possibly damaging Het
Plcb1 A T 2: 135,186,078 (GRCm39) I682F probably damaging Het
Plcz1 T A 6: 139,986,344 (GRCm39) probably null Het
Prl7a1 T A 13: 27,821,549 (GRCm39) Q129L possibly damaging Het
Prrt4 T C 6: 29,170,163 (GRCm39) Y763C probably damaging Het
Psma7 T C 2: 179,681,304 (GRCm39) probably benign Het
Serpinb6b G C 13: 33,156,246 (GRCm39) C112S probably damaging Het
Slc14a2 G A 18: 78,250,283 (GRCm39) R62C probably damaging Het
Slc35f5 G A 1: 125,500,211 (GRCm39) A242T possibly damaging Het
Speer4b T C 5: 27,706,311 (GRCm39) R19G probably benign Het
Trank1 A G 9: 111,196,103 (GRCm39) I1376V probably benign Het
Uba7 T C 9: 107,854,001 (GRCm39) probably null Het
Upf3a A G 8: 13,846,591 (GRCm39) R324G probably benign Het
Usp46 T G 5: 74,192,928 (GRCm39) probably benign Het
Vmn2r14 T G 5: 109,364,277 (GRCm39) probably null Het
Wbp2 G A 11: 115,971,373 (GRCm39) probably benign Het
Wdpcp T A 11: 21,645,269 (GRCm39) N232K probably damaging Het
Wdpcp T A 11: 21,645,271 (GRCm39) M233K probably benign Het
Zfp157 A G 5: 138,445,803 (GRCm39) I53V probably damaging Het
Other mutations in Trbv12-2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0362:Trbv12-2 UTSW 6 41,095,993 (GRCm39) unclassified probably benign
R4922:Trbv12-2 UTSW 6 41,096,081 (GRCm39) missense probably damaging 1.00
R5824:Trbv12-2 UTSW 6 41,095,774 (GRCm39) unclassified probably benign
R5835:Trbv12-2 UTSW 6 41,095,774 (GRCm39) unclassified probably benign
Predicted Primers PCR Primer
(F):5'- AGACTAGGTCCAGTACTACAGAG -3'
(R):5'- TCTTGGAGACTGGACAACCC -3'

Sequencing Primer
(F):5'- TCCAGTACTACAGAGAGCCTATGG -3'
(R):5'- CCCAGAATTTGCTGAACCTGG -3'
Posted On 2015-06-12