Incidental Mutation 'R8310:Tars2'
ID 641312
Institutional Source Beutler Lab
Gene Symbol Tars2
Ensembl Gene ENSMUSG00000028107
Gene Name threonyl-tRNA synthetase 2, mitochondrial (putative)
Synonyms Tarsl1, 2610024N01Rik
MMRRC Submission 067795-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.968) question?
Stock # R8310 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 95647286-95663677 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 95658271 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 185 (I185F)
Ref Sequence ENSEMBL: ENSMUSP00000029752 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029752] [ENSMUST00000074339] [ENSMUST00000098857] [ENSMUST00000163530] [ENSMUST00000195929] [ENSMUST00000196077] [ENSMUST00000196868] [ENSMUST00000197501] [ENSMUST00000197720] [ENSMUST00000198289] [ENSMUST00000199464] [ENSMUST00000199570]
AlphaFold Q3UQ84
Predicted Effect probably benign
Transcript: ENSMUST00000029752
AA Change: I185F

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000029752
Gene: ENSMUSG00000028107
AA Change: I185F

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: I185F

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000073946
Gene: ENSMUSG00000028107
AA Change: I185F

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 possibly damaging
Transcript: ENSMUST00000098857
AA Change: I185F

PolyPhen 2 Score 0.502 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000096456
Gene: ENSMUSG00000028107
AA Change: I185F

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
SMART Domains Protein: ENSMUSP00000130269
Gene: ENSMUSG00000028107

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
AA Change: I184F

PolyPhen 2 Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000143722
Gene: ENSMUSG00000028107
AA Change: I184F

DomainStartEndE-ValueType
Pfam:TGS 65 125 5e-13 PFAM
tRNA_SAD 232 264 7.5e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000196868
Predicted Effect probably benign
Transcript: ENSMUST00000197501
Predicted Effect probably benign
Transcript: ENSMUST00000197720
Predicted Effect probably benign
Transcript: ENSMUST00000198289
SMART Domains Protein: ENSMUSP00000143271
Gene: ENSMUSG00000028107

DomainStartEndE-ValueType
tRNA_SAD 2 43 2.6e-8 SMART
Pfam:tRNA-synt_2b 97 142 6.4e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000199464
AA Change: H143L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000143328
Gene: ENSMUSG00000028107
AA Change: H143L

DomainStartEndE-ValueType
Pfam:TGS 66 126 1.1e-13 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000199570
SMART Domains Protein: ENSMUSP00000143038
Gene: ENSMUSG00000028107

DomainStartEndE-ValueType
Pfam:TGS 66 126 1.5e-13 PFAM
tRNA_SAD 152 201 8.5e-15 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 98% (50/51)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A830005F24Rik T G 13: 48,667,727 (GRCm39) W10G unknown Het
Abca13 A T 11: 9,328,269 (GRCm39) K3447N possibly damaging Het
Agtr1a T G 13: 30,565,745 (GRCm39) V270G probably benign Het
Apob A T 12: 8,059,033 (GRCm39) H2505L probably benign Het
Babam1 T A 8: 71,850,629 (GRCm39) V86D possibly damaging Het
Cacna1s C A 1: 136,015,075 (GRCm39) N654K probably damaging Het
Ccdc146 A T 5: 21,506,469 (GRCm39) probably benign Het
Ccdc8 T C 7: 16,729,326 (GRCm39) S272P probably damaging Het
Cnksr1 T C 4: 133,956,730 (GRCm39) E510G probably damaging Het
Cnot6l A T 5: 96,239,535 (GRCm39) D255E probably benign Het
Ddx1 A C 12: 13,274,280 (GRCm39) probably benign Het
Dyrk1a A G 16: 94,492,650 (GRCm39) T628A probably benign Het
Elavl1 A T 8: 4,351,786 (GRCm39) I110N probably damaging Het
Emilin2 C G 17: 71,562,141 (GRCm39) D954H probably damaging Het
Erich3 C T 3: 154,410,586 (GRCm39) T147I Het
Galnt1 A T 18: 24,404,686 (GRCm39) H341L probably damaging Het
Gm14325 A T 2: 177,473,592 (GRCm39) C497S probably damaging Het
Gm4922 A T 10: 18,659,536 (GRCm39) N395K probably benign Het
Hsd17b2 G A 8: 118,469,155 (GRCm39) C189Y probably damaging Het
Kcnn1 A T 8: 71,305,449 (GRCm39) S254T possibly damaging Het
Lce1l G C 3: 92,757,766 (GRCm39) P31A unknown Het
Lrpprc A G 17: 85,080,524 (GRCm39) Y199H probably damaging Het
Lrrtm3 A T 10: 63,925,487 (GRCm39) probably null Het
Mon2 G T 10: 122,838,688 (GRCm39) A1598E probably damaging Het
Myh3 A T 11: 66,986,833 (GRCm39) probably null Het
Naa11 A T 5: 97,539,737 (GRCm39) D140E probably damaging Het
Nadk2 G A 15: 9,103,420 (GRCm39) R350Q probably benign Het
Npc1 T C 18: 12,326,455 (GRCm39) I1162V probably damaging Het
Or4e1 A G 14: 52,701,280 (GRCm39) M62T probably damaging Het
Or5v1 T C 17: 37,810,148 (GRCm39) I202T probably benign Het
Otogl A T 10: 107,613,461 (GRCm39) N2001K possibly damaging Het
Peg10 ACATCAGGATCC ACATCAGGATCCCCATCAGGATCC 6: 4,756,454 (GRCm39) probably benign Het
Pi4ka A G 16: 17,171,912 (GRCm39) probably null Het
Ppp2r5c A T 12: 110,512,259 (GRCm39) T185S possibly damaging Het
Psd2 A T 18: 36,112,766 (GRCm39) S154C probably damaging Het
Rnasel G A 1: 153,630,734 (GRCm39) V417M possibly damaging Het
Slc35g2 A G 9: 100,434,841 (GRCm39) S277P probably damaging Het
Slc36a2 A T 11: 55,070,158 (GRCm39) W140R possibly damaging Het
Slc6a12 A G 6: 121,340,250 (GRCm39) K512E probably damaging Het
Sox7 C T 14: 64,181,275 (GRCm39) S24L probably benign Het
Specc1 A G 11: 62,023,171 (GRCm39) K659E probably damaging Het
Stx18 T A 5: 38,285,383 (GRCm39) probably null Het
Svs5 C A 2: 164,080,091 (GRCm39) G25W probably damaging Het
Syne1 A G 10: 5,297,829 (GRCm39) M1156T probably benign Het
Thsd7a T C 6: 12,396,612 (GRCm39) I839V Het
Vmn1r115 T C 7: 20,578,819 (GRCm39) N31S probably damaging Het
Vmn1r57 A G 7: 5,224,024 (GRCm39) D183G probably damaging Het
Wdr7 C T 18: 63,868,756 (GRCm39) T275I probably damaging Het
Ybx2 A G 11: 69,831,194 (GRCm39) E263G probably damaging Het
Zbtb6 G T 2: 37,319,896 (GRCm39) Q11K probably benign Het
Zfp329 A T 7: 12,544,116 (GRCm39) C469* probably null Het
Zfp868 A T 8: 70,066,446 (GRCm39) L40H probably damaging 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
R0657:Tars2 UTSW 3 95,655,869 (GRCm39) missense probably benign 0.00
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
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'- AGGGACCATGAATCCGCTAG -3'
(R):5'- TCTCCTGACCGCTGAAACTC -3'

Sequencing Primer
(F):5'- TCCGCTAGGACGCCCTG -3'
(R):5'- CGATCCTATAGAGTACTTGCCAAGG -3'
Posted On 2020-07-28