Incidental Mutation 'R7042:Tars2'
ID 547100
Institutional Source Beutler Lab
Gene Symbol Tars2
Ensembl Gene ENSMUSG00000028107
Gene Name threonyl-tRNA synthetase 2, mitochondrial (putative)
Synonyms Tarsl1, 2610024N01Rik
MMRRC Submission 045141-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.968) question?
Stock # R7042 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 95647286-95663677 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 95658057 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 222 (H222Q)
Ref Sequence ENSEMBL: ENSMUSP00000096456 (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: H222Q

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000029752
Gene: ENSMUSG00000028107
AA Change: H222Q

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: H222Q

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000073946
Gene: ENSMUSG00000028107
AA Change: H222Q

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: H222Q

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000096456
Gene: ENSMUSG00000028107
AA Change: H222Q

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: H141Q

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000130269
Gene: ENSMUSG00000028107
AA Change: H141Q

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: H221Q

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000143722
Gene: ENSMUSG00000028107
AA Change: H221Q

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
SMART Domains Protein: ENSMUSP00000143328
Gene: ENSMUSG00000028107

DomainStartEndE-ValueType
Pfam:TGS 66 126 1.1e-13 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000199570
AA Change: H141Q

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000143038
Gene: ENSMUSG00000028107
AA Change: H141Q

DomainStartEndE-ValueType
Pfam:TGS 66 126 1.5e-13 PFAM
tRNA_SAD 152 201 8.5e-15 SMART
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (54/54)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsbg3 A G 17: 57,192,098 (GRCm39) S554G possibly damaging Het
Adcy7 G T 8: 89,042,378 (GRCm39) R415L probably damaging Het
Aox1 A T 1: 58,141,759 (GRCm39) I1182F probably damaging Het
Ccdc7b T A 8: 129,811,730 (GRCm39) Y147N probably benign Het
Clcnka A G 4: 141,118,691 (GRCm39) I398T probably damaging Het
Cst8 T A 2: 148,641,796 (GRCm39) probably null Het
Dcxr T C 11: 120,617,841 (GRCm39) D45G possibly damaging Het
Dhx38 A T 8: 110,283,617 (GRCm39) M510K possibly damaging Het
Dync2i1 T C 12: 116,218,061 (GRCm39) I182M probably benign Het
Ebf1 T A 11: 44,882,338 (GRCm39) H431Q probably damaging Het
Eml4 T C 17: 83,768,999 (GRCm39) I681T probably damaging Het
Etf1 T C 18: 35,043,219 (GRCm39) N164S probably benign Het
Fmo2 A G 1: 162,708,226 (GRCm39) V303A probably damaging Het
Foxl2 T A 9: 98,837,715 (GRCm39) M1K probably null Het
Gm3404 A T 5: 146,462,969 (GRCm39) E50D probably benign Het
Gpr61 G A 3: 108,058,647 (GRCm39) P5S possibly damaging Het
Hcrtr1 A G 4: 130,024,653 (GRCm39) probably benign Het
Ier3ip1 T A 18: 77,017,828 (GRCm39) F3I possibly damaging Het
Ifi206 G A 1: 173,308,808 (GRCm39) P396L Het
Ifi209 G A 1: 173,470,236 (GRCm39) V275I probably benign Het
Ighv1-69 T C 12: 115,586,909 (GRCm39) S75G probably benign Het
Kcnj3 A T 2: 55,484,877 (GRCm39) H325L possibly damaging Het
Klrk1 A T 6: 129,593,734 (GRCm39) S50T possibly damaging Het
Mfsd4b4 T A 10: 39,768,514 (GRCm39) Y193F probably damaging Het
Nlrp5 A G 7: 23,116,905 (GRCm39) I210V possibly damaging Het
Or4p20 T A 2: 88,253,746 (GRCm39) I208F possibly damaging Het
Or5w12 A T 2: 87,501,935 (GRCm39) Y259N possibly damaging Het
Or8b3 G T 9: 38,314,196 (GRCm39) G6C probably damaging Het
Or8d23 A G 9: 38,841,622 (GRCm39) S52G possibly damaging Het
Pax6 A T 2: 105,526,718 (GRCm39) H208L probably benign Het
Pgc C A 17: 48,044,745 (GRCm39) Q331K probably benign Het
Phldb1 A G 9: 44,605,721 (GRCm39) S370P probably damaging Het
Pi4k2a T C 19: 42,093,337 (GRCm39) I226T probably benign Het
Pick1 T C 15: 79,132,965 (GRCm39) S342P probably damaging Het
Plscr1 A G 9: 92,153,588 (GRCm39) M312V probably damaging Het
Ppp3cc T G 14: 70,462,468 (GRCm39) K399Q probably benign Het
Qpctl T C 7: 18,880,943 (GRCm39) H163R probably benign Het
Rab11fip5 A G 6: 85,351,110 (GRCm39) V134A possibly damaging Het
Rasal1 T A 5: 120,802,025 (GRCm39) probably null Het
Rem2 T A 14: 54,715,548 (GRCm39) I171N probably damaging Het
Sec22a T A 16: 35,149,885 (GRCm39) I214L probably benign Het
Setbp1 T C 18: 79,130,070 (GRCm39) D54G probably damaging Het
Slc27a2 C T 2: 126,409,700 (GRCm39) A294V probably damaging Het
Slfn14 T A 11: 83,167,430 (GRCm39) D695V probably damaging Het
Smc6 T A 12: 11,359,301 (GRCm39) I975K probably damaging Het
Spice1 T C 16: 44,206,043 (GRCm39) F835L probably benign Het
Tmtc2 A T 10: 105,206,477 (GRCm39) F273I probably damaging Het
Ttc39d C A 17: 80,523,891 (GRCm39) D183E probably benign Het
Vasp A G 7: 18,995,946 (GRCm39) S128P probably benign Het
Vcpip1 A G 1: 9,818,378 (GRCm39) S2P unknown Het
Vmn2r98 T C 17: 19,301,184 (GRCm39) Y729H probably benign Het
Wdr18 A T 10: 79,801,944 (GRCm39) D243V probably benign Het
Xirp2 T C 2: 67,343,633 (GRCm39) V1958A probably benign Het
Zfp451 A T 1: 33,816,474 (GRCm39) M492K probably damaging Het
Zfp804b A G 5: 6,820,042 (GRCm39) I1007T 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
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
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'- CTGACAGAGCAATGGCAAAC -3'
(R):5'- TAGAGCGGATTTGCCAGGAG -3'

Sequencing Primer
(F):5'- TGACAGAGCAATGGCAAACAAAAAC -3'
(R):5'- ATTTGCCAGGAGCTCATAGC -3'
Posted On 2019-05-13