Incidental Mutation 'R9370:Mars2'
ID 709252
Institutional Source Beutler Lab
Gene Symbol Mars2
Ensembl Gene ENSMUSG00000046994
Gene Name methionine-tRNA synthetase 2 (mitochondrial)
Synonyms C730026E21Rik
MMRRC Submission 068964-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9370 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 55276336-55279217 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 55276624 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 76 (S76P)
Ref Sequence ENSEMBL: ENSMUSP00000049770 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061334]
AlphaFold Q499X9
Predicted Effect probably benign
Transcript: ENSMUST00000061334
AA Change: S76P

PolyPhen 2 Score 0.260 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000049770
Gene: ENSMUSG00000046994
AA Change: S76P

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akr1d1 T A 6: 37,544,099 (GRCm39) *326R probably null Het
Cntn5 T A 9: 9,833,520 (GRCm39) I344F probably benign Het
Cyp2t4 G A 7: 26,854,717 (GRCm39) V66M possibly damaging Het
Eln C T 5: 134,741,476 (GRCm39) V563I unknown Het
Epb41l5 T C 1: 119,561,312 (GRCm39) Y83C probably damaging Het
Epha8 T C 4: 136,673,511 (GRCm39) D91G possibly damaging Het
Fscn3 T C 6: 28,434,535 (GRCm39) V370A probably benign Het
Gcc2 A G 10: 58,131,940 (GRCm39) N1550S probably benign Het
Gck T C 11: 5,852,244 (GRCm39) D365G possibly damaging Het
Hhatl C T 9: 121,617,836 (GRCm39) G251E possibly damaging Het
Hspa12a A G 19: 58,813,708 (GRCm39) F139S probably damaging Het
Ikzf2 T C 1: 69,578,018 (GRCm39) D497G probably damaging Het
Ino80 A G 2: 119,232,848 (GRCm39) S1157P probably damaging Het
Jmjd6 A G 11: 116,729,952 (GRCm39) I315T probably benign Het
Jup C T 11: 100,270,391 (GRCm39) C372Y probably damaging Het
Krt9 TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC 11: 100,079,903 (GRCm39) probably benign Het
Lyst C T 13: 13,935,333 (GRCm39) H3601Y probably damaging Het
Mtmr10 A G 7: 63,969,249 (GRCm39) E337G probably benign Het
Myo5b A G 18: 74,760,246 (GRCm39) D254G possibly damaging Het
Nell1 A T 7: 49,770,292 (GRCm39) E117V probably damaging Het
Pcdhgb7 T C 18: 37,884,937 (GRCm39) S36P possibly damaging Het
Rps6kc1 A C 1: 190,531,222 (GRCm39) L927V probably damaging Het
Sacs T A 14: 61,441,080 (GRCm39) I1042N probably damaging Het
Skint2 A G 4: 112,481,259 (GRCm39) N41D possibly damaging Het
Slc5a11 A G 7: 122,834,855 (GRCm39) T5A probably benign Het
Tbc1d22a C T 15: 86,123,441 (GRCm39) T194I probably benign Het
Tmem234 T A 4: 129,500,922 (GRCm39) V93D probably damaging Het
Trim43b T C 9: 88,971,559 (GRCm39) E199G probably benign Het
Ttc24 A T 3: 87,980,136 (GRCm39) V148E probably benign Het
Utp15 A G 13: 98,387,119 (GRCm39) F434L probably damaging Het
Vmn2r81 A G 10: 79,104,424 (GRCm39) Y349C probably damaging Het
Xpo5 T A 17: 46,546,844 (GRCm39) V865E probably damaging Het
Zfhx3 C T 8: 109,521,340 (GRCm39) R821C probably damaging Het
Zfp90 A G 8: 107,145,791 (GRCm39) D41G probably damaging Het
Zzef1 T A 11: 72,744,148 (GRCm39) C835S 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
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
Predicted Primers PCR Primer
(F):5'- ACACCCGGGATACGCTCTTC -3'
(R):5'- CAGAAATGCTGCACCGCTAC -3'

Sequencing Primer
(F):5'- AGGAGTCAACGCTTGCC -3'
(R):5'- GGTGCCGAGCCTCCGTG -3'
Posted On 2022-04-18