Incidental Mutation 'IGL03047:Mars2'
ID 392210
Institutional Source Beutler Lab
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 # IGL03047 (G1)
Quality Score 160
Status Validated
Chromosome 1
Chromosomal Location 55276336-55279217 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 55278032 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 545 (Y545C)
Ref Sequence ENSEMBL: ENSMUSP00000049770 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061334]
AlphaFold Q499X9
Predicted Effect probably benign
Transcript: ENSMUST00000061334
AA Change: Y545C

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000049770
Gene: ENSMUSG00000046994
AA Change: Y545C

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
Meta Mutation Damage Score 0.0867 question?
Coding Region Coverage
  • 1x: 0.0%
  • 3x: 0.0%
  • 10x: 0.0%
  • 20x: 0.0%
Validation Efficiency 98% (41/42)
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2900092C05Rik T A 7: 12,246,568 (GRCm39) H21Q possibly damaging Het
4933427D14Rik A G 11: 72,057,552 (GRCm39) I749T possibly damaging Het
Adam22 A G 5: 8,132,220 (GRCm39) S869P probably damaging Het
Add3 A G 19: 53,231,022 (GRCm39) T566A probably benign Het
Asic3 A C 5: 24,618,788 (GRCm39) M27L probably benign Het
Atp2c1 T A 9: 105,398,206 (GRCm39) probably benign Het
Cabin1 A T 10: 75,535,934 (GRCm39) probably benign Het
Ccr7 C T 11: 99,036,160 (GRCm39) R254H probably benign Het
Cdk2ap1 G T 5: 124,486,753 (GRCm39) A63E possibly damaging Het
Cfap70 T C 14: 20,498,646 (GRCm39) T14A possibly damaging Het
Cldn11 T A 3: 31,217,256 (GRCm39) F141L probably damaging Het
Comp G T 8: 70,827,559 (GRCm39) A107S possibly damaging Het
Cyp2b23 A T 7: 26,380,892 (GRCm39) probably benign Het
Cyp2c68 T G 19: 39,722,904 (GRCm39) I215L probably benign Het
Cyp4f17 T A 17: 32,743,023 (GRCm39) I232K possibly damaging Het
Dram2 T G 3: 106,480,345 (GRCm39) F219L probably damaging Het
Fam186a G A 15: 99,843,589 (GRCm39) A885V unknown Het
Fbxo42 A G 4: 140,926,853 (GRCm39) T378A possibly damaging Het
Frmpd1 T A 4: 45,283,993 (GRCm39) V938E probably damaging Het
Gramd1c C A 16: 43,808,610 (GRCm39) L489F probably damaging Het
Il17ra T C 6: 120,458,187 (GRCm39) I446T probably damaging Het
Il36g G A 2: 24,082,719 (GRCm39) A165T probably damaging Het
Kcne4 G T 1: 78,795,495 (GRCm39) V48F possibly damaging Het
Ly6g6c T A 17: 35,288,325 (GRCm39) probably null Het
Mmp12 T G 9: 7,357,797 (GRCm39) probably benign Het
Mthfd1l T A 10: 3,930,409 (GRCm39) probably benign Het
Nop14 C T 5: 34,817,358 (GRCm39) R11K possibly damaging Het
Npas3 T A 12: 53,878,470 (GRCm39) probably benign Het
Odf2 A T 2: 29,810,907 (GRCm39) probably benign Het
Or2y1d A G 11: 49,321,794 (GRCm39) M164V probably benign Het
Or5p73 T C 7: 108,064,983 (GRCm39) S151P probably damaging Het
Or5w16 A G 2: 87,577,338 (GRCm39) Y266C possibly damaging Het
Or6s1 A G 14: 51,308,613 (GRCm39) I79T possibly damaging Het
Otud7b T C 3: 96,058,301 (GRCm39) probably benign Het
Plcg1 T C 2: 160,596,799 (GRCm39) Y747H probably damaging Het
Runx1t1 G A 4: 13,865,882 (GRCm39) V357I probably damaging Het
Seh1l C G 18: 67,922,520 (GRCm39) T291R probably damaging Het
Speer4c1 A C 5: 15,919,214 (GRCm39) probably benign Het
Sulf2 G T 2: 165,922,814 (GRCm39) probably null Het
Tent4a C A 13: 69,651,030 (GRCm39) D369Y probably damaging Het
Tex14 C T 11: 87,427,530 (GRCm39) S1174F probably damaging Het
Tm9sf4 A G 2: 153,003,326 (GRCm39) probably benign Het
Vmn2r7 G A 3: 64,614,639 (GRCm39) H392Y possibly damaging Het
Zfhx4 T A 3: 5,308,793 (GRCm39) V673D probably damaging Het
Other mutations in Mars2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01803:Mars2 APN 1 55,277,155 (GRCm39) missense probably damaging 1.00
IGL02283:Mars2 APN 1 55,277,933 (GRCm39) missense probably damaging 0.99
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
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
Predicted Primers PCR Primer
(F):5'- ACGCACCATGGAAATTGAACTG -3'
(R):5'- CCTGAATCGTTCTGTTCATAAGG -3'

Sequencing Primer
(F):5'- CATGGAAATTGAACTGGGAGAGCC -3'
(R):5'- GAATCGTTCTGTTCATAAGGACATAG -3'
Posted On 2016-06-09