Incidental Mutation 'R7358:Mars2'
ID 571065
Institutional Source Beutler Lab
Gene Symbol Mars2
Ensembl Gene ENSMUSG00000046994
Gene Name methionine-tRNA synthetase 2 (mitochondrial)
Synonyms C730026E21Rik
MMRRC Submission 045444-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7358 (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 55276729 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 111 (S111P)
Ref Sequence ENSEMBL: ENSMUSP00000049770 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061334]
AlphaFold Q499X9
Predicted Effect probably damaging
Transcript: ENSMUST00000061334
AA Change: S111P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000049770
Gene: ENSMUSG00000046994
AA Change: S111P

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: 99.7%
  • 20x: 99.1%
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: 90 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 T A 17: 24,510,529 (GRCm39) Q983L probably benign Het
Agtr1a A T 13: 30,564,962 (GRCm39) D9V probably benign Het
Ahcyl T C 16: 45,974,201 (GRCm39) E392G probably damaging Het
Ankrd13c T A 3: 157,697,374 (GRCm39) Y326* probably null Het
Ano2 A G 6: 125,687,696 (GRCm39) D67G probably benign Het
Arhgef5 G A 6: 43,256,507 (GRCm39) R1205H probably damaging Het
Ascc3 T A 10: 50,590,448 (GRCm39) Y1055* probably null Het
Atad5 C T 11: 80,023,862 (GRCm39) A1658V probably benign Het
Atp6ap1l T C 13: 91,031,926 (GRCm39) D252G probably damaging Het
Bdkrb2 T C 12: 105,558,800 (GRCm39) V347A possibly damaging Het
Ccdc187 A T 2: 26,146,007 (GRCm39) L1194Q probably damaging Het
Chd9 A C 8: 91,710,115 (GRCm39) D770A unknown Het
Chd9 A G 8: 91,760,846 (GRCm39) D2197G unknown Het
Clip2 C A 5: 134,531,484 (GRCm39) E774* probably null Het
Clspn A G 4: 126,459,993 (GRCm39) T407A probably benign Het
Col24a1 T A 3: 144,998,926 (GRCm39) probably null Het
Cradd T A 10: 95,158,637 (GRCm39) T37S probably damaging Het
Cspg4b A G 13: 113,456,501 (GRCm39) D849G Het
Ctbp2 A G 7: 132,600,610 (GRCm39) F70S probably damaging Het
D3Ertd751e A T 3: 41,701,000 (GRCm39) E6D probably damaging Het
Dst T A 1: 34,230,754 (GRCm39) F2782L probably benign Het
Dync2h1 A G 9: 7,159,479 (GRCm39) probably null Het
Eif2s1 G T 12: 78,927,969 (GRCm39) G215V probably damaging Het
Epg5 A T 18: 78,002,252 (GRCm39) D557V possibly damaging Het
Eya4 C T 10: 22,999,749 (GRCm39) probably null Het
Fpr1 C A 17: 18,097,242 (GRCm39) R249L probably damaging Het
Fry A G 5: 150,339,788 (GRCm39) T1520A probably benign Het
Gapvd1 C T 2: 34,580,473 (GRCm39) probably null Het
Gemin4 A C 11: 76,104,278 (GRCm39) L161* probably null Het
Gid8 A T 2: 180,359,779 (GRCm39) K221I probably benign Het
Gm21028 A C 7: 42,227,913 (GRCm39) C34G probably damaging Het
Greb1 A G 12: 16,774,882 (GRCm39) S172P probably damaging Het
Herc2 A G 7: 55,832,423 (GRCm39) I3040V possibly damaging Het
Hmcn2 T A 2: 31,306,824 (GRCm39) V3190E probably damaging Het
Hrnr G T 3: 93,230,448 (GRCm39) G229* probably null Het
Igfn1 A T 1: 135,891,738 (GRCm39) V2259D probably damaging Het
Ism2 A G 12: 87,326,814 (GRCm39) F375S probably damaging Het
Kcnk4 T A 19: 6,903,478 (GRCm39) D357V probably damaging Het
Knl1 A G 2: 118,901,040 (GRCm39) R914G possibly damaging Het
Mogat2 G A 7: 98,881,673 (GRCm39) P88S possibly damaging Het
Msh2 T A 17: 88,024,957 (GRCm39) S612T possibly damaging Het
Nvl A G 1: 180,962,601 (GRCm39) L123P probably damaging Het
Or1j20 T C 2: 36,759,890 (GRCm39) V104A probably benign Het
Or2d3c A T 7: 106,526,111 (GRCm39) L185Q probably damaging Het
Or51v15-ps1 A G 7: 103,278,390 (GRCm39) L259P unknown Het
Or5m11b T A 2: 85,805,780 (GRCm39) S64R possibly damaging Het
Or6c202 T A 10: 128,995,939 (GRCm39) I305F probably benign Het
Or7e174 A T 9: 20,012,169 (GRCm39) Y38F probably damaging Het
P2rx7 A T 5: 122,804,205 (GRCm39) probably null Het
Pard3 A T 8: 128,319,573 (GRCm39) I1149L probably damaging Het
Pcdha8 T A 18: 37,125,830 (GRCm39) I104N probably damaging Het
Pecr G A 1: 72,306,624 (GRCm39) T219I probably benign Het
Pgap2 A T 7: 101,859,774 (GRCm39) probably benign Het
Phf7 T C 14: 30,963,745 (GRCm39) R76G probably benign Het
Pigu T C 2: 155,141,090 (GRCm39) T268A probably damaging Het
Piwil4 T C 9: 14,641,289 (GRCm39) T231A possibly damaging Het
Pkd1l1 T G 11: 8,895,202 (GRCm39) E636A Het
Plscr3 T C 11: 69,738,316 (GRCm39) S55P unknown Het
Pnlip T A 19: 58,664,976 (GRCm39) I268N probably damaging Het
Podxl A T 6: 31,501,929 (GRCm39) H343Q probably benign Het
Prkcd T C 14: 30,327,793 (GRCm39) T213A probably benign Het
Prss22 T A 17: 24,215,419 (GRCm39) Q119L probably benign Het
Psme3ip1 T C 8: 95,302,327 (GRCm39) N235D possibly damaging Het
Ptprcap A G 19: 4,206,238 (GRCm39) E107G possibly damaging Het
Ptprg A G 14: 12,154,198 (GRCm38) T640A possibly damaging Het
Ptprh A T 7: 4,554,006 (GRCm39) probably null Het
Rasa4 A G 5: 136,124,448 (GRCm39) T166A probably benign Het
Sbf2 T C 7: 109,998,555 (GRCm39) E626G possibly damaging Het
Scn2a T A 2: 65,512,850 (GRCm39) Y203* probably null Het
Serpinb1a G C 13: 33,026,981 (GRCm39) H320Q probably damaging Het
Shisa7 G A 7: 4,832,920 (GRCm39) T464I probably benign Het
Slc47a2 G A 11: 61,199,699 (GRCm39) A399V possibly damaging Het
Snrnp200 A G 2: 127,063,746 (GRCm39) T642A probably benign Het
Spag16 A G 1: 69,883,526 (GRCm39) H85R probably benign Het
Spata31h1 A G 10: 82,127,847 (GRCm39) L1721S possibly damaging Het
Sry GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG Y: 2,662,638 (GRCm39) probably benign Het
Stag3 C A 5: 138,299,770 (GRCm39) L894M probably damaging Het
Sun2 A T 15: 79,618,313 (GRCm39) F284Y probably benign Het
Tpx2 T A 2: 152,718,550 (GRCm39) N184K probably benign Het
Trpa1 A T 1: 14,968,334 (GRCm39) N477K probably damaging Het
Ttbk2 C T 2: 120,620,791 (GRCm39) R157H probably damaging Het
Ttn C T 2: 76,537,649 (GRCm39) E34760K probably benign Het
Tysnd1 T C 10: 61,532,427 (GRCm39) S360P probably damaging Het
Uqcc5 A G 14: 30,846,560 (GRCm39) V53A probably damaging Het
Usp34 T A 11: 23,311,683 (GRCm39) L511I probably damaging Het
Vmn2r71 A T 7: 85,273,468 (GRCm39) T761S possibly damaging Het
Zdhhc18 G T 4: 133,360,482 (GRCm39) C73* probably null Het
Zfp975 A T 7: 42,312,215 (GRCm39) C133S probably damaging Het
Zfy1 T C Y: 735,141 (GRCm39) E214G unknown Het
Zmym5 T A 14: 57,031,597 (GRCm39) K504* probably null 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
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'- ATCTTCTACGTGAACGCCG -3'
(R):5'- TCTTCCTTCGTCCAGGAGAC -3'

Sequencing Primer
(F):5'- TCTGCGTCCACGCGGTTTT -3'
(R):5'- ATGTCCGCTCTCGAGAGACAC -3'
Posted On 2019-09-13