Incidental Mutation 'IGL02283:Mars2'
ID 289910
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mars2
Ensembl Gene ENSMUSG00000046994
Gene Name methionine-tRNA synthetase 2 (mitochondrial)
Synonyms C730026E21Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02283
Quality Score
Status
Chromosome 1
Chromosomal Location 55276336-55279217 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 55277933 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 512 (V512A)
Ref Sequence ENSEMBL: ENSMUSP00000049770 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061334]
AlphaFold Q499X9
Predicted Effect probably damaging
Transcript: ENSMUST00000061334
AA Change: V512A

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000049770
Gene: ENSMUSG00000046994
AA Change: V512A

DomainStartEndE-ValueType
Pfam:tRNA-synt_1 28 135 1.5e-6 PFAM
Pfam:tRNA-synt_1g 38 404 3.3e-109 PFAM
Pfam:tRNA-synt_1 263 376 4.4e-11 PFAM
Pfam:tRNA-synt_1e 319 387 3.4e-6 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181563
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209801
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene produces a mitochondrial methionyl-tRNA synthetase protein that is encoded by the nuclear genome and imported to the mitochondrion. This protein likely functions as a monomer and is predicted to localize to the mitochondrial matrix. Mutations in this gene are associated with the autosomal recessive neurodegenerative disease spastic ataxia-3 (SPAX3). [provided by RefSeq, Apr 2014]
Allele List at MGI
Other mutations in this stock
Total: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh1l2 T C 10: 83,331,759 (GRCm39) Y682C probably benign Het
Ank1 G A 8: 23,609,450 (GRCm39) probably null Het
Arhgap1 A G 2: 91,501,121 (GRCm39) N399S probably damaging Het
Atp8a2 A T 14: 60,254,248 (GRCm39) I511N possibly damaging Het
Birc6 T A 17: 74,906,935 (GRCm39) C1428S probably benign Het
Col18a1 T C 10: 76,948,943 (GRCm39) T190A possibly damaging Het
Cpd A T 11: 76,731,251 (GRCm39) D318E probably benign Het
Dync2h1 A T 9: 7,125,912 (GRCm39) V1898E probably damaging Het
Gon4l T C 3: 88,802,671 (GRCm39) M1095T probably damaging Het
Gypa G A 8: 81,220,721 (GRCm39) probably benign Het
Irf9 G A 14: 55,845,196 (GRCm39) R352H probably damaging Het
Macf1 T C 4: 123,365,168 (GRCm39) T1633A probably benign Het
Myo9a A G 9: 59,778,956 (GRCm39) N1571D probably benign Het
Myrfl T C 10: 116,613,265 (GRCm39) D846G probably benign Het
Or2ak6 A T 11: 58,593,102 (GRCm39) T192S probably damaging Het
Or2y1b A G 11: 49,209,162 (GRCm39) D263G probably benign Het
Or4d11 A G 19: 12,013,219 (GRCm39) S296P possibly damaging Het
Or7a41 T C 10: 78,871,379 (GRCm39) S250P probably damaging Het
Rprd2 A T 3: 95,672,815 (GRCm39) S863T probably damaging Het
Sdf4 T A 4: 156,093,293 (GRCm39) N208K probably benign Het
Sftpd A T 14: 40,894,423 (GRCm39) V332D probably benign Het
Sh2b3 T C 5: 121,956,718 (GRCm39) D321G probably benign Het
Slc45a2 T A 15: 11,001,268 (GRCm39) N122K probably damaging Het
Slk T A 19: 47,630,432 (GRCm39) F1170Y probably damaging Het
Spata7 A C 12: 98,624,517 (GRCm39) T140P probably damaging Het
Vmn2r117 A G 17: 23,694,356 (GRCm39) L497S probably damaging Het
Other mutations in Mars2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01803:Mars2 APN 1 55,277,155 (GRCm39) missense probably damaging 1.00
IGL02379:Mars2 APN 1 55,277,212 (GRCm39) missense probably damaging 1.00
IGL02485:Mars2 APN 1 55,276,750 (GRCm39) missense possibly damaging 0.87
IGL03047:Mars2 UTSW 1 55,278,032 (GRCm39) missense probably benign
R4581:Mars2 UTSW 1 55,277,021 (GRCm39) missense probably damaging 1.00
R5019:Mars2 UTSW 1 55,276,468 (GRCm39) missense possibly damaging 0.94
R7148:Mars2 UTSW 1 55,276,673 (GRCm39) missense probably damaging 1.00
R7220:Mars2 UTSW 1 55,277,222 (GRCm39) missense probably damaging 1.00
R7358:Mars2 UTSW 1 55,276,729 (GRCm39) missense probably damaging 1.00
R8035:Mars2 UTSW 1 55,277,456 (GRCm39) missense possibly damaging 0.50
R8683:Mars2 UTSW 1 55,277,741 (GRCm39) missense probably benign 0.35
R9075:Mars2 UTSW 1 55,278,154 (GRCm39) missense probably damaging 0.97
R9133:Mars2 UTSW 1 55,276,721 (GRCm39) missense possibly damaging 0.75
R9370:Mars2 UTSW 1 55,276,624 (GRCm39) missense probably benign 0.26
Posted On 2015-04-16