Incidental Mutation 'R5512:Tars2'
ID 501244
Institutional Source Beutler Lab
Gene Symbol Tars2
Ensembl Gene ENSMUSG00000028107
Gene Name threonyl-tRNA synthetase 2, mitochondrial (putative)
Synonyms Tarsl1, 2610024N01Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.968) question?
Stock # R5512 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 95647286-95663677 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 95657728 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 238 (C238S)
Ref Sequence ENSEMBL: ENSMUSP00000096456 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029752] [ENSMUST00000074339] [ENSMUST00000098857] [ENSMUST00000163530] [ENSMUST00000195929] [ENSMUST00000196077] [ENSMUST00000199570] [ENSMUST00000198289] [ENSMUST00000196868] [ENSMUST00000199464] [ENSMUST00000197501] [ENSMUST00000197720]
AlphaFold Q3UQ84
Predicted Effect probably damaging
Transcript: ENSMUST00000029752
AA Change: C238S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000029752
Gene: ENSMUSG00000028107
AA Change: C238S

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 damaging
Transcript: ENSMUST00000074339
AA Change: C238S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000073946
Gene: ENSMUSG00000028107
AA Change: C238S

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 damaging
Transcript: ENSMUST00000098857
AA Change: C238S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000096456
Gene: ENSMUSG00000028107
AA Change: C238S

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 damaging
Transcript: ENSMUST00000163530
AA Change: C157S

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000130269
Gene: ENSMUSG00000028107
AA Change: C157S

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 damaging
Transcript: ENSMUST00000196077
AA Change: C237S

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000143722
Gene: ENSMUSG00000028107
AA Change: C237S

DomainStartEndE-ValueType
Pfam:TGS 65 125 5e-13 PFAM
tRNA_SAD 232 264 7.5e-5 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196475
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197895
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198007
Predicted Effect possibly damaging
Transcript: ENSMUST00000199570
AA Change: C157S

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000143038
Gene: ENSMUSG00000028107
AA Change: C157S

DomainStartEndE-ValueType
Pfam:TGS 66 126 1.5e-13 PFAM
tRNA_SAD 152 201 8.5e-15 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199869
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: ENSMUST00000196868
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: ENSMUST00000197501
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198194
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197389
Predicted Effect probably benign
Transcript: ENSMUST00000197720
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310057M21Rik A G 7: 130,952,389 (GRCm39) V364A possibly damaging Het
Abca8b C A 11: 109,868,639 (GRCm39) G175V probably damaging Het
Adgre5 T C 8: 84,455,715 (GRCm39) N198D probably benign Het
Adgrf4 G T 17: 42,978,176 (GRCm39) T389K probably benign Het
Apc T A 18: 34,443,962 (GRCm39) probably benign Het
Appl2 T A 10: 83,441,682 (GRCm39) I524F probably damaging Het
Arhgef37 G A 18: 61,632,845 (GRCm39) Q531* probably null Het
Atp7b T C 8: 22,502,755 (GRCm39) T694A probably benign Het
Cacna1g T A 11: 94,334,968 (GRCm39) I780F probably damaging Het
Calcoco2 T C 11: 95,994,162 (GRCm39) K95E probably damaging Het
Cars1 T C 7: 143,123,870 (GRCm39) D388G possibly damaging Het
Ccdc150 A C 1: 54,393,806 (GRCm39) E690A probably damaging Het
Cdc73 G T 1: 143,578,354 (GRCm39) D3E probably damaging Het
Cdh23 C A 10: 60,370,165 (GRCm39) probably null Het
Cep170b T C 12: 112,699,919 (GRCm39) S143P possibly damaging Het
Cherp T C 8: 73,217,110 (GRCm39) I607V possibly damaging Het
CN725425 T A 15: 91,124,959 (GRCm39) H166Q probably benign Het
Dcaf6 A G 1: 165,227,404 (GRCm39) V241A possibly damaging Het
Dot1l C T 10: 80,624,825 (GRCm39) P881S possibly damaging Het
Drgx A G 14: 32,322,001 (GRCm39) H5R probably damaging Het
Dsg1c A T 18: 20,405,568 (GRCm39) N327I probably damaging Het
Fbxw7 G A 3: 84,862,216 (GRCm39) R182H probably damaging Het
Fkbp1b A T 12: 4,888,183 (GRCm39) V24E probably benign Het
Fut11 T C 14: 20,746,069 (GRCm39) S304P probably damaging Het
Ggt1 C T 10: 75,420,718 (GRCm39) T361I probably damaging Het
Gimap7 G T 6: 48,700,530 (GRCm39) A39S probably benign Het
Gm12689 T C 4: 99,184,402 (GRCm39) I85T unknown Het
Gm17541 G T 12: 4,739,452 (GRCm39) probably benign Het
Gmip T A 8: 70,270,540 (GRCm39) V750E probably benign Het
Gna14 A G 19: 16,585,492 (GRCm39) E290G probably benign Het
Gpnmb T C 6: 49,022,398 (GRCm39) V176A possibly damaging Het
Hhla1 T C 15: 65,795,865 (GRCm39) K447R probably benign Het
Hsd3b1 A G 3: 98,760,521 (GRCm39) Y157H probably benign Het
Iqgap2 G A 13: 95,811,884 (GRCm39) Q706* probably null Het
Krt222 A C 11: 99,125,781 (GRCm39) S283R probably damaging Het
Ldb2 G A 5: 44,637,586 (GRCm39) R241W probably damaging Het
Lrrc8d G A 5: 105,960,651 (GRCm39) E354K probably benign Het
Lrrc8d C G 5: 105,960,650 (GRCm39) F353L probably damaging Het
Masp2 A T 4: 148,698,526 (GRCm39) I536F probably damaging Het
Mptx1 A G 1: 174,160,315 (GRCm39) D207G probably benign Het
Mtpn C T 6: 35,489,225 (GRCm39) D100N probably benign Het
Napsa A G 7: 44,222,040 (GRCm39) M1V probably null Het
Ncam1 A T 9: 49,420,999 (GRCm39) probably null Het
Nckap5 G A 1: 125,955,481 (GRCm39) P425L possibly damaging Het
Nol8 A G 13: 49,830,263 (GRCm39) S1116G probably benign Het
Nrde2 G T 12: 100,108,509 (GRCm39) Q361K probably benign Het
Nudt13 G A 14: 20,357,800 (GRCm39) G133D probably damaging Het
Ofcc1 G T 13: 40,360,286 (GRCm39) Q248K probably benign Het
Olfm4 A G 14: 80,258,787 (GRCm39) D345G probably benign Het
Or2t6 C A 14: 14,175,633 (GRCm38) G150C probably damaging Het
Or4k41 G A 2: 111,280,099 (GRCm39) V205I probably benign Het
Osbpl3 T G 6: 50,286,340 (GRCm39) K659N probably damaging Het
Pdk2 G A 11: 94,930,292 (GRCm39) T48M probably damaging Het
Phf11a A T 14: 59,524,999 (GRCm39) D68E probably benign Het
Purb A G 11: 6,425,702 (GRCm39) V62A probably damaging Het
Rabep2 A G 7: 126,037,971 (GRCm39) T248A possibly damaging Het
Rps19bp1 CCTTCTTCTTCTTCTTCTTCTT CCTTCTTCTTCTTCTTCTT 15: 80,145,250 (GRCm39) probably benign Het
Rtl1 C T 12: 109,557,805 (GRCm39) E1345K unknown Het
Sema3e G A 5: 14,280,194 (GRCm39) A358T probably damaging Het
Slc29a2 A G 19: 5,076,426 (GRCm39) I105V probably benign Het
Slc35e2 C T 4: 155,694,483 (GRCm39) P10L probably benign Het
Slc6a5 G A 7: 49,591,573 (GRCm39) V513I probably damaging Het
Slco4a1 T A 2: 180,115,907 (GRCm39) F681Y possibly damaging Het
Sp1 A G 15: 102,339,445 (GRCm39) N775S possibly damaging Het
Sspo T A 6: 48,432,605 (GRCm39) V827D probably damaging Het
Taar7f C T 10: 23,926,321 (GRCm39) T305M possibly damaging Het
Tasor2 A T 13: 3,645,517 (GRCm39) Y111N probably damaging Het
Tnks1bp1 C A 2: 84,893,178 (GRCm39) P373Q probably benign Het
Tnpo3 A G 6: 29,575,045 (GRCm39) L373P probably damaging Het
Unc45b A C 11: 82,805,898 (GRCm39) D135A possibly damaging Het
Vmn1r235 A T 17: 21,481,677 (GRCm39) M1L probably benign Het
Vmn2r66 T C 7: 84,657,149 (GRCm39) I85M probably damaging Het
Vmn2r80 T G 10: 79,004,066 (GRCm39) L93W probably benign Het
Vwf G T 6: 125,650,850 (GRCm39) probably benign Het
Ythdf3 A G 3: 16,238,086 (GRCm39) R9G probably damaging Het
Zfp229 A G 17: 21,964,017 (GRCm39) probably null Het
Zfp958 A C 8: 4,675,838 (GRCm39) probably null 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
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'- CATCAGCCATGAGGACAGAG -3'
(R):5'- GCAGATGAACCGTACTGCTC -3'

Sequencing Primer
(F):5'- CAGCCATGAGGACAGAGAAGGG -3'
(R):5'- GATGAACCGTACTGCTCCAGAAAAAG -3'
Posted On 2017-12-01