Incidental Mutation 'R8035:Mars2'
ID 618158
Institutional Source Beutler Lab
Gene Symbol Mars2
Ensembl Gene ENSMUSG00000046994
Gene Name methionine-tRNA synthetase 2 (mitochondrial)
Synonyms C730026E21Rik
MMRRC Submission 067472-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8035 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 55276336-55279217 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 55277456 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 353 (T353I)
Ref Sequence ENSEMBL: ENSMUSP00000049770 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061334]
AlphaFold Q499X9
Predicted Effect possibly damaging
Transcript: ENSMUST00000061334
AA Change: T353I

PolyPhen 2 Score 0.500 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000049770
Gene: ENSMUSG00000046994
AA Change: T353I

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
Meta Mutation Damage Score 0.1060 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (55/55)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 A G 6: 128,530,243 (GRCm39) V938A probably damaging Het
Acot7 A G 4: 152,337,611 (GRCm39) T254A possibly damaging Het
Ankle2 C T 5: 110,402,318 (GRCm39) R943C probably damaging Het
Arrdc2 T C 8: 71,292,026 (GRCm39) K7R probably benign Het
Arsi T A 18: 61,049,442 (GRCm39) H108Q probably damaging Het
Asap3 T C 4: 135,968,514 (GRCm39) Y689H probably benign Het
Bnip3 G A 7: 138,493,666 (GRCm39) T181I probably damaging Het
C87436 T C 6: 86,424,337 (GRCm39) S290P probably benign Het
Ccdc168 A G 1: 44,100,711 (GRCm39) V129A possibly damaging Het
Ccdc6 A G 10: 69,933,331 (GRCm39) I68V probably benign Het
Ccr3 T C 9: 123,829,012 (GRCm39) F116L probably benign Het
Cdh9 G T 15: 16,831,152 (GRCm39) V330F probably damaging Het
Cdkn1a T C 17: 29,318,350 (GRCm39) C155R possibly damaging Het
Ctr9 C T 7: 110,633,664 (GRCm39) A165V probably damaging Het
Cyp2b19 G A 7: 26,470,675 (GRCm39) G439R probably damaging Het
Fam161b A T 12: 84,395,430 (GRCm39) D504E probably damaging Het
Fdps G T 3: 89,002,783 (GRCm39) P122T probably benign Het
Fmn2 T C 1: 174,547,437 (GRCm39) Y1454H probably damaging Het
Gipc2 T C 3: 151,799,866 (GRCm39) E288G probably damaging Het
Gm21411 A C 4: 146,982,167 (GRCm39) probably null Het
Hnrnpc C T 14: 52,321,719 (GRCm39) D32N possibly damaging Het
Hspa12b T A 2: 130,982,859 (GRCm39) I239N probably damaging Het
Hspb8 T C 5: 116,553,485 (GRCm39) N138D probably damaging Het
Igkv4-69 T C 6: 69,260,921 (GRCm39) I69V possibly damaging Het
Itih1 A C 14: 30,664,482 (GRCm39) D81E probably benign Het
Kdm3b T C 18: 34,941,781 (GRCm39) L624S probably damaging Het
Klk6 A G 7: 43,478,086 (GRCm39) M153V probably benign Het
Lgals9 A T 11: 78,854,302 (GRCm39) Y327* probably null Het
Lims1 T A 10: 58,246,263 (GRCm39) probably benign Het
Lrp1b T A 2: 40,750,667 (GRCm39) I3080F Het
Matn4 T C 2: 164,238,960 (GRCm39) N307S probably damaging Het
Mettl17 C T 14: 52,128,947 (GRCm39) H406Y probably damaging Het
Mtor T A 4: 148,630,856 (GRCm39) M2271K probably benign Het
Mtrex T C 13: 113,035,336 (GRCm39) E539G probably benign Het
Myt1 T C 2: 181,437,532 (GRCm39) L81P probably damaging Het
Or56a3b T A 7: 104,770,757 (GRCm39) L31H probably damaging Het
Or5b118 T C 19: 13,449,263 (GRCm39) F310L probably benign Het
Or6k4 A T 1: 173,964,490 (GRCm39) Y60F probably damaging Het
Or8b38 C T 9: 37,972,961 (GRCm39) T115I probably damaging Het
Pbrm1 A G 14: 30,806,109 (GRCm39) K1030R probably damaging Het
Rap1gds1 A T 3: 138,721,311 (GRCm39) D119E probably damaging Het
Rgs9 A G 11: 109,164,150 (GRCm39) I151T probably benign Het
Slc26a7 A C 4: 14,621,338 (GRCm39) M16R possibly damaging Het
Slx4ip T G 2: 136,885,945 (GRCm39) Y88* probably null Het
Sppl2c T A 11: 104,078,192 (GRCm39) W331R probably benign Het
Srcap T C 7: 127,141,784 (GRCm39) S1855P probably benign Het
Svs5 A G 2: 164,079,053 (GRCm39) F285L probably benign Het
Tjp1 G T 7: 64,992,450 (GRCm39) A76E probably benign Het
Trip13 G C 13: 74,061,373 (GRCm39) A430G probably benign Het
Trpm6 A G 19: 18,770,226 (GRCm39) E337G probably damaging Het
Tut7 A T 13: 59,937,004 (GRCm39) N1214K probably benign Het
Vmn1r37 T A 6: 66,708,377 (GRCm39) M1K probably null Het
Wdr72 T G 9: 74,086,783 (GRCm39) probably benign Het
Zfp583 T C 7: 6,319,771 (GRCm39) K414E probably damaging Het
Zfp940 A C 7: 29,544,948 (GRCm39) S320A probably benign Het
Zfp979 A C 4: 147,697,763 (GRCm39) C315W 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
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'- ATCTACGTGTGGCTGGATGC -3'
(R):5'- ATTCTGTAGGCAGTGCACC -3'

Sequencing Primer
(F):5'- CCCAGATGCAGATTTCAAGTCTTGG -3'
(R):5'- GTGCACCGGTTTAAAAGCC -3'
Posted On 2020-01-23