Incidental Mutation 'R0657:Tars2'
ID 62566
Institutional Source Beutler Lab
Gene Symbol Tars2
Ensembl Gene ENSMUSG00000028107
Gene Name threonyl-tRNA synthetase 2, mitochondrial (putative)
Synonyms Tarsl1, 2610024N01Rik
MMRRC Submission 038842-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.968) question?
Stock # R0657 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 95647286-95663677 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 95655869 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 289 (V289E)
Ref Sequence ENSEMBL: ENSMUSP00000096456 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029752] [ENSMUST00000074339] [ENSMUST00000098857] [ENSMUST00000163530] [ENSMUST00000195929] [ENSMUST00000196077] [ENSMUST00000199570] [ENSMUST00000198289] [ENSMUST00000199464] [ENSMUST00000197720] [ENSMUST00000196868]
AlphaFold Q3UQ84
Predicted Effect probably benign
Transcript: ENSMUST00000029752
AA Change: V289E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000029752
Gene: ENSMUSG00000028107
AA Change: V289E

DomainStartEndE-ValueType
Pfam:TGS 66 126 5.6e-14 PFAM
tRNA_SAD 233 282 1.15e-10 SMART
Pfam:tRNA-synt_2b 400 608 2.4e-32 PFAM
Pfam:HGTP_anticodon 620 711 1.5e-18 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000074339
AA Change: V289E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000073946
Gene: ENSMUSG00000028107
AA Change: V289E

DomainStartEndE-ValueType
Pfam:TGS 66 126 1.3e-15 PFAM
tRNA_SAD 233 282 1.15e-10 SMART
Pfam:tRNA-synt_2b 336 519 2.8e-39 PFAM
Pfam:HGTP_anticodon 594 685 5.4e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000098857
AA Change: V289E

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000096456
Gene: ENSMUSG00000028107
AA Change: V289E

DomainStartEndE-ValueType
Pfam:TGS 66 126 6.7e-16 PFAM
tRNA_SAD 233 282 1.15e-10 SMART
SCOP:d1atia2 332 417 2e-9 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000163530
AA Change: V208E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000130269
Gene: ENSMUSG00000028107
AA Change: V208E

DomainStartEndE-ValueType
Pfam:TGS 66 126 2.6e-15 PFAM
tRNA_SAD 152 201 1.15e-10 SMART
Pfam:tRNA-synt_2b 255 438 8.6e-40 PFAM
Pfam:HGTP_anticodon 539 630 1.6e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000195929
SMART Domains Protein: ENSMUSP00000143757
Gene: ENSMUSG00000028107

DomainStartEndE-ValueType
Pfam:tRNA_SAD 1 28 3.2e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000196077
SMART Domains Protein: ENSMUSP00000143722
Gene: ENSMUSG00000028107

DomainStartEndE-ValueType
Pfam:TGS 65 125 5e-13 PFAM
tRNA_SAD 232 264 7.5e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000199570
AA Change: V208E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000143038
Gene: ENSMUSG00000028107
AA Change: V208E

DomainStartEndE-ValueType
Pfam:TGS 66 126 1.5e-13 PFAM
tRNA_SAD 152 201 8.5e-15 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000198289
AA Change: V50E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000143271
Gene: ENSMUSG00000028107
AA Change: V50E

DomainStartEndE-ValueType
tRNA_SAD 2 43 2.6e-8 SMART
Pfam:tRNA-synt_2b 97 142 6.4e-10 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197389
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198007
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198194
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197895
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196475
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199869
Predicted Effect probably benign
Transcript: ENSMUST00000199464
SMART Domains Protein: ENSMUSP00000143328
Gene: ENSMUSG00000028107

DomainStartEndE-ValueType
Pfam:TGS 66 126 1.1e-13 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000197720
Predicted Effect probably benign
Transcript: ENSMUST00000196868
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 96.6%
  • 20x: 91.3%
Validation Efficiency 97% (58/60)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the class-II aminoacyl-tRNA synthetase family. The encoded protein is a mitochondrial aminoacyl-tRNA synthetase. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 4. [provided by RefSeq, Dec 2012]
Allele List at MGI

All alleles(20) : Targeted, other(2) Gene trapped(18)

Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930503L19Rik G A 18: 70,602,553 (GRCm39) Q87* probably null Het
Aldh7a1 C T 18: 56,670,269 (GRCm39) probably benign Het
Bfsp1 A C 2: 143,669,570 (GRCm39) probably benign Het
Btbd10 A T 7: 112,929,085 (GRCm39) S230T possibly damaging Het
Chd7 T C 4: 8,753,141 (GRCm39) V546A probably damaging Het
Defb13 T C 8: 22,436,877 (GRCm39) probably benign Het
F13a1 A T 13: 37,152,079 (GRCm39) D237E probably damaging Het
F8 T C X: 74,255,022 (GRCm39) Q2124R possibly damaging Het
Hivep2 T C 10: 14,007,622 (GRCm39) S1407P probably benign Het
Hmgcs2 A G 3: 98,198,369 (GRCm39) T91A probably benign Het
Huwe1 T C X: 150,702,924 (GRCm39) I3463T probably benign Het
Iars1 T C 13: 49,855,995 (GRCm39) Y289H probably damaging Het
Ints8 C A 4: 11,246,097 (GRCm39) V190L probably benign Het
Itgb1 T G 8: 129,449,335 (GRCm39) Y585D possibly damaging Het
Kif14 C T 1: 136,396,840 (GRCm39) T382I probably benign Het
Lypd10 T A 7: 24,412,872 (GRCm39) D93E probably benign Het
Me2 A G 18: 73,903,744 (GRCm39) S575P probably benign Het
Mgat4b T C 11: 50,121,908 (GRCm39) V143A possibly damaging Het
Mroh2a C A 1: 88,183,287 (GRCm39) L1292I probably damaging Het
Nek8 C T 11: 78,062,033 (GRCm39) S237N probably benign Het
Neto1 G A 18: 86,479,445 (GRCm39) R211Q probably benign Het
Nfatc2ip A G 7: 125,990,507 (GRCm39) S165P probably benign Het
Or1e34 T C 11: 73,778,611 (GRCm39) M196V probably benign Het
Or1e34 C T 11: 73,778,656 (GRCm39) V181I probably benign Het
Patj C A 4: 98,555,885 (GRCm39) Q297K probably damaging Het
Pde5a A G 3: 122,542,107 (GRCm39) N199S probably damaging Het
Pip4k2b A T 11: 97,613,762 (GRCm39) probably benign Het
Ptch1 A G 13: 63,661,565 (GRCm39) V1054A possibly damaging Het
Slc17a5 G A 9: 78,485,956 (GRCm39) A43V probably damaging Het
Spata20 T A 11: 94,371,435 (GRCm39) D643V probably damaging Het
Tmem135 A T 7: 88,793,890 (GRCm39) I384N probably damaging Het
Trip12 C T 1: 84,736,771 (GRCm39) M816I probably benign Het
Ulk2 T C 11: 61,698,880 (GRCm39) probably benign Het
Zzef1 T C 11: 72,712,677 (GRCm39) V199A probably benign Het
Other mutations in Tars2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01604:Tars2 APN 3 95,647,590 (GRCm39) missense probably damaging 1.00
IGL02523:Tars2 APN 3 95,648,705 (GRCm39) missense probably damaging 1.00
IGL02709:Tars2 APN 3 95,649,383 (GRCm39) splice site probably benign
IGL03286:Tars2 APN 3 95,662,067 (GRCm39) splice site probably benign
IGL03348:Tars2 APN 3 95,647,580 (GRCm39) splice site probably null
B6584:Tars2 UTSW 3 95,649,462 (GRCm39) splice site probably null
R0548:Tars2 UTSW 3 95,649,971 (GRCm39) missense probably damaging 1.00
R1955:Tars2 UTSW 3 95,654,766 (GRCm39) missense probably damaging 1.00
R2070:Tars2 UTSW 3 95,654,950 (GRCm39) missense probably damaging 1.00
R2071:Tars2 UTSW 3 95,654,950 (GRCm39) missense probably damaging 1.00
R3025:Tars2 UTSW 3 95,654,952 (GRCm39) missense possibly damaging 0.71
R3962:Tars2 UTSW 3 95,662,068 (GRCm39) critical splice donor site probably null
R4676:Tars2 UTSW 3 95,660,403 (GRCm39) missense probably damaging 1.00
R4775:Tars2 UTSW 3 95,653,959 (GRCm39) missense probably damaging 1.00
R5208:Tars2 UTSW 3 95,654,905 (GRCm39) missense probably damaging 1.00
R5512:Tars2 UTSW 3 95,657,728 (GRCm39) missense probably damaging 1.00
R5894:Tars2 UTSW 3 95,654,964 (GRCm39) splice site probably null
R5965:Tars2 UTSW 3 95,655,464 (GRCm39) splice site probably null
R6381:Tars2 UTSW 3 95,661,799 (GRCm39) nonsense probably null
R6953:Tars2 UTSW 3 95,660,426 (GRCm39) missense possibly damaging 0.63
R7042:Tars2 UTSW 3 95,658,057 (GRCm39) missense probably benign 0.00
R7648:Tars2 UTSW 3 95,658,294 (GRCm39) missense probably benign 0.26
R7877:Tars2 UTSW 3 95,653,401 (GRCm39) missense probably damaging 0.99
R7946:Tars2 UTSW 3 95,657,693 (GRCm39) missense probably damaging 0.99
R8021:Tars2 UTSW 3 95,654,826 (GRCm39) missense probably benign
R8260:Tars2 UTSW 3 95,662,132 (GRCm39) missense probably damaging 0.99
R8310:Tars2 UTSW 3 95,658,271 (GRCm39) missense probably benign 0.02
R8681:Tars2 UTSW 3 95,658,199 (GRCm39) nonsense probably null
R8697:Tars2 UTSW 3 95,653,374 (GRCm39) missense possibly damaging 0.75
R8756:Tars2 UTSW 3 95,648,672 (GRCm39) missense probably benign 0.32
R9498:Tars2 UTSW 3 95,647,553 (GRCm39) missense probably damaging 1.00
R9653:Tars2 UTSW 3 95,655,379 (GRCm39) missense probably damaging 1.00
R9746:Tars2 UTSW 3 95,662,077 (GRCm39) missense probably benign 0.34
Predicted Primers PCR Primer
(F):5'- GAAGCAAGTGACAGAGCTACTCCC -3'
(R):5'- CGGAACTGAGCATCAGAGACTTGAC -3'

Sequencing Primer
(F):5'- tgggagggagtggagaaag -3'
(R):5'- CTTGACAGGAGAGCCAGTG -3'
Posted On 2013-07-30