Incidental Mutation 'R5069:Wars2'
ID 388525
Institutional Source Beutler Lab
Gene Symbol Wars2
Ensembl Gene ENSMUSG00000004233
Gene Name tryptophanyl tRNA synthetase 2 (mitochondrial)
Synonyms 9430020O07Rik, TrpRS
MMRRC Submission 042659-MU
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock # R5069 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 99141068-99239186 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 99187533 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 48 (H48R)
Ref Sequence ENSEMBL: ENSMUSP00000142723 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004343] [ENSMUST00000135960] [ENSMUST00000145650] [ENSMUST00000198044]
AlphaFold Q9CYK1
Predicted Effect probably damaging
Transcript: ENSMUST00000004343
AA Change: H48R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000004343
Gene: ENSMUSG00000004233
AA Change: H48R

Pfam:tRNA-synt_1b 30 315 2.7e-70 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126875
Predicted Effect probably damaging
Transcript: ENSMUST00000135960
AA Change: H48R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000142470
Gene: ENSMUSG00000004233
AA Change: H48R

Pfam:tRNA-synt_1b 30 175 1e-39 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000145650
AA Change: H48R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000142723
Gene: ENSMUSG00000004233
AA Change: H48R

Pfam:tRNA-synt_1b 30 178 1.7e-42 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000198044
SMART Domains Protein: ENSMUSP00000142361
Gene: ENSMUSG00000004233

Pfam:tRNA-synt_1b 25 92 4.1e-11 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.7%
  • 20x: 93.5%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Aminoacyl-tRNA synthetases catalyze the aminoacylation of tRNA by their cognate amino acid. Because of their central role in linking amino acids with nucleotide triplets contained in tRNAs, aminoacyl-tRNA synthetases are thought to be among the first proteins that appeared in evolution. Two forms of tryptophanyl-tRNA synthetase exist, a cytoplasmic form, named WARS, and a mitochondrial form, named WARS2. This gene encodes the mitochondrial tryptophanyl-tRNA synthetase. Two alternative transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for an ENU-induced mutation exhibit decreased body fat mass, cardiomyopathy, and progressive hearing loss. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik A G 14: 32,661,792 S739P possibly damaging Het
9330182L06Rik T A 5: 9,440,897 C636S probably damaging Het
Actn2 A G 13: 12,288,522 I464T possibly damaging Het
Adcy7 T C 8: 88,327,697 L1060P probably damaging Het
Aff3 A G 1: 38,181,613 probably null Het
Ankar T C 1: 72,680,210 probably null Het
Ankrd27 A T 7: 35,628,435 K793N probably damaging Het
Arhgef28 T C 13: 98,075,206 T90A probably damaging Het
Armc9 A T 1: 86,257,237 H670L probably benign Het
Arvcf A G 16: 18,398,986 Y412C probably damaging Het
Ass1 C T 2: 31,510,173 T301M probably damaging Het
Baiap3 A T 17: 25,249,108 C283S probably damaging Het
BC055324 T C 1: 163,987,674 T93A possibly damaging Het
Birc6 C T 17: 74,565,972 R409C probably damaging Het
Calcoco1 A G 15: 102,711,092 L354P probably damaging Het
Cdh3 A G 8: 106,536,826 N126S probably benign Het
Cfap54 A C 10: 92,937,774 F135L probably benign Het
Dlg1 G T 16: 31,684,295 probably null Het
Dnah3 T C 7: 120,032,790 H1314R probably benign Het
Dsp A C 13: 38,197,123 T2615P possibly damaging Het
Enpp2 T C 15: 54,864,054 Y513C probably damaging Het
Ercc6 T C 14: 32,570,063 V1128A probably benign Het
Gipc2 A G 3: 152,094,248 F282L probably benign Het
Gm1043 T G 5: 37,187,236 L231R probably damaging Het
Gm13178 T A 4: 144,703,867 D184V probably damaging Het
Gm14085 A T 2: 122,494,373 N142I possibly damaging Het
Gm14685 T C X: 73,127,971 I323T probably damaging Het
Gpr153 T A 4: 152,279,883 M132K probably damaging Het
Hbs1l T A 10: 21,354,647 S496T probably damaging Het
Inpp5f A G 7: 128,676,727 probably null Het
Kat6a G A 8: 22,903,133 C209Y probably damaging Het
Kcna2 T A 3: 107,104,637 V178D probably damaging Het
Krt75 A G 15: 101,566,238 probably null Het
Letm2 G A 8: 25,593,964 Q84* probably null Het
Mib1 A G 18: 10,793,002 E646G probably damaging Het
Mmp14 T A 14: 54,439,113 Y372N probably damaging Het
Muc6 A G 7: 141,651,299 C218R probably damaging Het
Myof A T 19: 37,905,325 I1130N possibly damaging Het
Neil3 A G 8: 53,601,041 S318P possibly damaging Het
Nhlh1 A G 1: 172,053,900 V133A probably benign Het
Nup153 A C 13: 46,709,792 S331A probably benign Het
Nup98 T C 7: 102,145,655 T882A probably benign Het
Olfr1413 T A 1: 92,573,413 S81T probably damaging Het
Olfr599 A T 7: 103,338,022 probably null Het
Olfr744 T A 14: 50,618,740 C173S probably damaging Het
Olfr749 C A 14: 50,737,074 L29F probably benign Het
Otx1 C A 11: 21,997,037 A91S probably damaging Het
Pald1 A T 10: 61,341,246 M675K possibly damaging Het
Pex5 A G 6: 124,413,596 S97P probably benign Het
Pitpnm1 C T 19: 4,111,140 A897V probably benign Het
Plxnd1 A T 6: 115,965,901 V1274E probably damaging Het
Polr2a T C 11: 69,736,735 probably null Het
Ppfia1 G A 7: 144,514,473 Q446* probably null Het
Psma2 G A 13: 14,616,028 V20I probably benign Het
Rhbdl2 T A 4: 123,817,917 L149* probably null Het
Rnf17 T C 14: 56,505,928 V1317A probably damaging Het
Rtel1 G A 2: 181,355,492 V1042M probably benign Het
Sidt2 A T 9: 45,939,461 probably null Het
Slc11a1 G A 1: 74,385,184 A434T probably damaging Het
Slc4a10 G A 2: 62,267,571 R508H probably benign Het
Slc5a8 A T 10: 88,886,598 I98F possibly damaging Het
Slf2 T A 19: 44,935,253 S169T possibly damaging Het
Snx33 A T 9: 56,926,191 I198N probably damaging Het
Spock3 A G 8: 63,355,265 T396A probably benign Het
Sva A T 6: 42,038,417 probably benign Het
Syt7 A G 19: 10,439,237 N261S probably benign Het
Taar7b T G 10: 24,000,461 S175A probably benign Het
Thoc2 C T X: 41,806,693 E1491K probably damaging Het
Tlr1 T C 5: 64,926,400 Y278C probably benign Het
Tph2 T A 10: 115,151,174 Y237F probably benign Het
Trim35 C T 14: 66,308,972 probably benign Het
Trpm4 T G 7: 45,310,469 Y667S probably damaging Het
Ttc27 T A 17: 74,799,342 H541Q probably damaging Het
Ube4a T C 9: 44,940,089 H709R probably damaging Het
Vwa7 G A 17: 35,024,190 V615I probably benign Het
Xlr4c T A X: 73,238,684 K121M probably damaging Het
Zfc3h1 T A 10: 115,418,783 C1427* probably null Het
Other mutations in Wars2
AlleleSourceChrCoordTypePredicted EffectPPH Score
LCD18:Wars2 UTSW 3 99214774 frame shift probably null
PIT4449001:Wars2 UTSW 3 99205279 missense possibly damaging 0.90
R0511:Wars2 UTSW 3 99216549 missense probably damaging 1.00
R0748:Wars2 UTSW 3 99216572 missense probably damaging 1.00
R1446:Wars2 UTSW 3 99187527 missense probably benign 0.12
R1534:Wars2 UTSW 3 99216861 missense probably damaging 1.00
R2118:Wars2 UTSW 3 99216567 missense probably benign 0.06
R4246:Wars2 UTSW 3 99216588 missense probably damaging 0.99
R5973:Wars2 UTSW 3 99187646 missense probably benign
R6518:Wars2 UTSW 3 99216800 missense probably benign
R7098:Wars2 UTSW 3 99216641 missense probably damaging 1.00
R8010:Wars2 UTSW 3 99216830 missense probably benign 0.01
R8247:Wars2 UTSW 3 99187649 missense probably benign 0.00
R8794:Wars2 UTSW 3 99216572 missense probably damaging 1.00
R9087:Wars2 UTSW 3 99216747 missense possibly damaging 0.84
R9341:Wars2 UTSW 3 99187530 missense probably benign
R9343:Wars2 UTSW 3 99187530 missense probably benign
R9528:Wars2 UTSW 3 99204606 missense possibly damaging 0.81
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2016-06-06