Incidental Mutation 'R8683:Mars2'
ID 661851
Institutional Source Beutler Lab
Gene Symbol Mars2
Ensembl Gene ENSMUSG00000046994
Gene Name methionine-tRNA synthetase 2 (mitochondrial)
Synonyms C730026E21Rik
MMRRC Submission 068538-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8683 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 55276336-55279217 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 55277741 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 448 (T448I)
Ref Sequence ENSEMBL: ENSMUSP00000049770 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061334]
AlphaFold Q499X9
Predicted Effect probably benign
Transcript: ENSMUST00000061334
AA Change: T448I

PolyPhen 2 Score 0.351 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000049770
Gene: ENSMUSG00000046994
AA Change: T448I

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: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars1 A G 8: 111,768,881 (GRCm39) D227G possibly damaging Het
Actl11 T A 9: 107,806,065 (GRCm39) D129E probably benign Het
Adam12 T A 7: 133,491,929 (GRCm39) E877D possibly damaging Het
Adarb2 T A 13: 8,807,395 (GRCm39) V732E probably damaging Het
Adcy1 T C 11: 7,111,328 (GRCm39) I873T probably damaging Het
Adgrg1 C T 8: 95,736,276 (GRCm39) H477Y probably damaging Het
Ahctf1 T C 1: 179,623,321 (GRCm39) E99G possibly damaging Het
Ankk1 T A 9: 49,329,292 (GRCm39) M93L Het
Ankmy1 A T 1: 92,812,972 (GRCm39) L446M possibly damaging Het
Anxa10 T A 8: 62,510,825 (GRCm39) Y309F probably damaging Het
Arg2 C T 12: 79,196,794 (GRCm39) Q172* probably null Het
Atp6v0a4 T A 6: 38,025,926 (GRCm39) *834L probably null Het
Avl9 T A 6: 56,730,378 (GRCm39) S574T probably benign Het
AW551984 G A 9: 39,511,005 (GRCm39) T194I possibly damaging Het
Azin1 G A 15: 38,493,775 (GRCm39) L283F probably damaging Het
Birc6 G A 17: 74,916,114 (GRCm39) A1677T possibly damaging Het
Carm1 A T 9: 21,497,464 (GRCm39) D342V possibly damaging Het
Ccr4 T C 9: 114,321,216 (GRCm39) D283G probably damaging Het
Cmtm1 CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT 8: 105,036,102 (GRCm39) probably benign Het
Cntn2 A T 1: 132,450,731 (GRCm39) L548Q probably damaging Het
Copg1 A G 6: 87,869,637 (GRCm39) D172G probably damaging Het
Cyp2j12 T A 4: 96,009,805 (GRCm39) N185Y probably benign Het
Dapk3 T C 10: 81,026,069 (GRCm39) L120P probably damaging Het
Dclre1b A C 3: 103,711,298 (GRCm39) S204R probably damaging Het
Dennd2a G A 6: 39,500,137 (GRCm39) R143* probably null Het
Dnah5 A T 15: 28,289,367 (GRCm39) E1185D probably benign Het
Dop1b C T 16: 93,568,699 (GRCm39) T1587I probably damaging Het
Dop1b A G 16: 93,570,809 (GRCm39) T1603A probably benign Het
Dym T A 18: 75,363,089 (GRCm39) V531E probably damaging Het
Dync2i1 G T 12: 116,193,262 (GRCm39) D563E probably benign Het
Ecpas T C 4: 58,834,515 (GRCm39) S788G probably benign Het
Eif2b4 A T 5: 31,345,274 (GRCm39) F453L probably damaging Het
Entpd8 G A 2: 24,974,992 (GRCm39) G441D probably damaging Het
Galnt6 A T 15: 100,592,603 (GRCm39) Y535N probably damaging Het
Garin2 TGATGTCACAGATGTCAC TGATGTCAC 12: 78,762,057 (GRCm39) probably benign Het
Gm10340 T A 14: 14,826,748 (GRCm39) D72E possibly damaging Het
Gm13102 T A 4: 143,835,680 (GRCm39) D449E probably damaging Het
Hdac9 T A 12: 34,440,220 (GRCm39) K386N probably damaging Het
Hgs T A 11: 120,366,044 (GRCm39) C212* probably null Het
Hoxa2 C A 6: 52,141,540 (GRCm39) A29S possibly damaging Het
Ifnar1 T A 16: 91,296,332 (GRCm39) W278R probably damaging Het
Irf7 C T 7: 140,843,422 (GRCm39) G389R probably null Het
Lipo3 G A 19: 33,759,604 (GRCm39) L211F probably benign Het
Mcm4 C A 16: 15,453,138 (GRCm39) G184C probably damaging Het
Mmaa C T 8: 79,994,598 (GRCm39) A403T probably damaging Het
Mmel1 A G 4: 154,973,985 (GRCm39) I342V probably benign Het
Myb T C 10: 21,026,405 (GRCm39) T188A possibly damaging Het
Myo1g C T 11: 6,467,569 (GRCm39) probably null Het
Npas2 A G 1: 39,386,708 (GRCm39) Q659R probably benign Het
Npr1 A G 3: 90,362,497 (GRCm39) V941A probably benign Het
Numa1 T G 7: 101,626,617 (GRCm39) M1R probably null Het
Obscn T C 11: 58,967,705 (GRCm39) S2700G probably benign Het
Or2t35 T A 14: 14,407,480 (GRCm38) L84H probably benign Het
Or4k2 A T 14: 50,424,203 (GRCm39) M157K possibly damaging Het
Or5g25 A T 2: 85,478,410 (GRCm39) I85N probably benign Het
Pdpr T A 8: 111,850,492 (GRCm39) H476Q probably damaging Het
Pkd1l1 A T 11: 8,821,805 (GRCm39) S1630T Het
Prdm16 A G 4: 154,613,161 (GRCm39) S89P probably damaging Het
Ptgdr2 T A 19: 10,917,893 (GRCm39) W137R possibly damaging Het
Ptpra A G 2: 130,394,187 (GRCm39) I784V possibly damaging Het
Rabepk G T 2: 34,685,188 (GRCm39) D77E possibly damaging Het
Sh2b1 GGGGACCAGCTCAGCCACGGGGACCAGCTC GGGGACCAGCTCAGCCACAGGGACCAGCTCAGCCACGGGGACCAGCTC 7: 126,066,743 (GRCm39) probably benign Het
Smc3 T A 19: 53,629,616 (GRCm39) S994T possibly damaging Het
Sparc A G 11: 55,292,783 (GRCm39) C147R probably damaging Het
Supt6 A T 11: 78,108,727 (GRCm39) D1191E probably benign Het
Susd4 T C 1: 182,719,832 (GRCm39) probably null Het
Tbc1d5 A G 17: 51,291,631 (GRCm39) probably null Het
Tecta T G 9: 42,278,268 (GRCm39) D1080A probably damaging Het
Tenm4 G T 7: 96,552,064 (GRCm39) W2538L probably damaging Het
Trappc9 A G 15: 72,884,664 (GRCm39) F439L probably benign Het
Tsbp1 A T 17: 34,667,782 (GRCm39) Q158L possibly damaging Het
Vegfa A T 17: 46,342,396 (GRCm39) S141T probably benign Het
Vmn2r9 T A 5: 108,996,873 (GRCm39) D132V 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
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
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'- AATTGCTGGACTCCGAGCTG -3'
(R):5'- GGCTGAAGCAAAGTTCCAAAC -3'

Sequencing Primer
(F):5'- ACTCCGAGCTGGCAGATG -3'
(R):5'- GCACTCCAAGGCTACGTGAAG -3'
Posted On 2021-03-08