Incidental Mutation 'R5019:Mars2'
ID 452842
Institutional Source Beutler Lab
Gene Symbol Mars2
Ensembl Gene ENSMUSG00000046994
Gene Name methionine-tRNA synthetase 2 (mitochondrial)
Synonyms C730026E21Rik
MMRRC Submission 042610-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5019 (G1)
Quality Score 59
Status Validated
Chromosome 1
Chromosomal Location 55276336-55279217 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 55276468 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 24 (S24P)
Ref Sequence ENSEMBL: ENSMUSP00000049770 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061334]
AlphaFold Q499X9
Predicted Effect possibly damaging
Transcript: ENSMUST00000061334
AA Change: S24P

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000049770
Gene: ENSMUSG00000046994
AA Change: S24P

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 0.1585 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.3%
Validation Efficiency 92% (35/38)
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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 C A 11: 110,056,760 (GRCm39) W20L probably benign Het
Adamts17 T A 7: 66,711,818 (GRCm39) Y81* probably null Het
Add3 A G 19: 53,231,002 (GRCm39) E559G probably damaging Het
Ahcyl2 A T 6: 29,859,738 (GRCm39) K6M possibly damaging Het
Asb3 A T 11: 31,031,415 (GRCm39) N345I possibly damaging Het
Carm1 T C 9: 21,490,807 (GRCm39) probably null Het
Ip6k2 T A 9: 108,674,945 (GRCm39) probably benign Het
Kdm4c T C 4: 74,261,772 (GRCm39) L649P probably damaging Het
Klra5 T C 6: 129,876,352 (GRCm39) T152A probably benign Het
Mfap2 A T 4: 140,742,569 (GRCm39) T142S probably damaging Het
Miga1 A C 3: 152,028,098 (GRCm39) S144A possibly damaging Het
Nalf1 A G 8: 9,820,240 (GRCm39) V260A probably benign Het
Or2l5 A T 16: 19,334,285 (GRCm39) F34I probably damaging Het
Or4d2b A G 11: 87,779,801 (GRCm39) V307A probably benign Het
Pate12 C A 9: 36,343,198 (GRCm39) Q7K probably benign Het
Pcdhgb6 A G 18: 37,875,994 (GRCm39) D234G probably damaging Het
Pclo A G 5: 14,764,381 (GRCm39) N4285D unknown Het
Pex1 T C 5: 3,672,331 (GRCm39) S725P probably damaging Het
Pigg A G 5: 108,480,015 (GRCm39) Y430C probably damaging Het
Plcb2 A T 2: 118,542,617 (GRCm39) L818Q probably benign Het
Psmd5 A G 2: 34,755,965 (GRCm39) probably benign Het
Skint8 T C 4: 111,785,845 (GRCm39) V97A probably damaging Het
Tfap2b T C 1: 19,296,666 (GRCm39) V185A probably benign Het
Trim27 T C 13: 21,374,134 (GRCm39) F294L probably damaging Het
Trp53bp1 A T 2: 121,100,800 (GRCm39) probably null Het
Ttc28 T A 5: 111,249,930 (GRCm39) H293Q possibly damaging Het
Xkr5 T C 8: 18,992,126 (GRCm39) T88A probably benign Het
Xkr6 T G 14: 64,056,515 (GRCm39) I142S unknown Het
Zfp618 T C 4: 63,021,789 (GRCm39) Y252H probably damaging Het
Zfp790 C T 7: 29,529,192 (GRCm39) H626Y probably benign Het
Zfp809 A G 9: 22,148,998 (GRCm39) D84G probably benign 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
IGL03047:Mars2 UTSW 1 55,278,032 (GRCm39) missense probably benign
R4581:Mars2 UTSW 1 55,277,021 (GRCm39) missense probably damaging 1.00
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'- TTTGTGCCCTGCTTTGACAG -3'
(R):5'- ATCTTCAGGCCGTGCTCATC -3'

Sequencing Primer
(F):5'- CGATCAGTTCAGTTCAGATCCAG -3'
(R):5'- CCGTGCCGGTGGAAAAC -3'
Posted On 2017-01-19