Incidental Mutation 'R4921:Sars2'
ID 378575
Institutional Source Beutler Lab
Gene Symbol Sars2
Ensembl Gene ENSMUSG00000070699
Gene Name seryl-aminoacyl-tRNA synthetase 2
Synonyms 2410015F05Rik, D7Ertd353e
MMRRC Submission 042523-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.904) question?
Stock # R4921 (G1)
Quality Score 100
Status Not validated
Chromosome 7
Chromosomal Location 28741992-28753871 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 28752438 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 423 (S423P)
Ref Sequence ENSEMBL: ENSMUSP00000092216 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094632] [ENSMUST00000178767]
AlphaFold Q9JJL8
Predicted Effect possibly damaging
Transcript: ENSMUST00000094632
AA Change: S423P

PolyPhen 2 Score 0.812 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000092216
Gene: ENSMUSG00000070699
AA Change: S423P

Pfam:Seryl_tRNA_N 58 174 3.8e-8 PFAM
Pfam:tRNA-synt_2b 284 468 5.2e-24 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000178767
SMART Domains Protein: ENSMUSP00000137487
Gene: ENSMUSG00000096257

signal peptide 1 21 N/A INTRINSIC
low complexity region 105 117 N/A INTRINSIC
coiled coil region 129 151 N/A INTRINSIC
low complexity region 206 215 N/A INTRINSIC
coiled coil region 228 270 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.7%
  • 20x: 90.3%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the mitochondrial seryl-tRNA synthethase precursor, a member of the class II tRNA synthetase family. The mature enzyme catalyzes the ligation of Serine to tRNA(Ser) and participates in the biosynthesis of selenocysteinyl-tRNA(sec) in mitochondria. The enzyme contains an N-terminal tRNA binding domain and a core catalytic domain. It functions in a homodimeric form, which is stabilized by tRNA binding. This gene is regulated by a bidirectional promoter that also controls the expression of mitochondrial ribosomal protein S12. Both genes are within the critical interval for the autosomal dominant deafness locus DFNA4 and might be linked to this disease. Multiple transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Mar 2009]
Allele List at MGI
Other mutations in this stock
Total: 98 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930522L14Rik A T 5: 109,737,796 (GRCm38) N65K probably benign Het
Abcc9 T C 6: 142,590,436 (GRCm38) Y1524C probably benign Het
Acap1 A G 11: 69,887,193 (GRCm38) I102T probably damaging Het
Acvr2a T C 2: 48,893,541 (GRCm38) V284A possibly damaging Het
Adam3 T C 8: 24,684,614 (GRCm38) M712V probably benign Het
Adck1 T C 12: 88,441,138 (GRCm38) V213A probably benign Het
Adgrl3 G T 5: 81,512,110 (GRCm38) W242L probably damaging Het
Alk T C 17: 71,904,315 (GRCm38) T857A probably benign Het
Alms1 A G 6: 85,628,546 (GRCm38) T2393A probably benign Het
Ank3 C T 10: 70,002,109 (GRCm38) P240L probably damaging Het
Ankrd35 C A 3: 96,684,824 (GRCm38) L809M possibly damaging Het
Birc6 T A 17: 74,650,099 (GRCm38) L3690Q probably damaging Het
Bmp3 C A 5: 98,872,061 (GRCm38) F114L probably damaging Het
Cage1 G A 13: 38,019,208 (GRCm38) H627Y probably benign Het
Cars T C 7: 143,569,475 (GRCm38) D468G probably damaging Het
Ccdc148 T C 2: 58,829,802 (GRCm38) E487G probably damaging Het
Ccdc80 A T 16: 45,118,167 (GRCm38) I746F probably damaging Het
Ccl25 A G 8: 4,353,913 (GRCm38) Q119R possibly damaging Het
Cdh24 C T 14: 54,633,215 (GRCm38) D178N probably damaging Het
Cdk12 A T 11: 98,222,687 (GRCm38) T766S unknown Het
Chst15 T A 7: 132,247,884 (GRCm38) T443S probably benign Het
Cnbp T C 6: 87,845,146 (GRCm38) D125G possibly damaging Het
Cntn2 A T 1: 132,516,032 (GRCm38) V1003E possibly damaging Het
Crct1 A G 3: 93,014,825 (GRCm38) probably benign Het
Dand5 C T 8: 84,816,484 (GRCm38) C121Y probably damaging Het
Dmkn A T 7: 30,771,233 (GRCm38) D382V probably damaging Het
Dnase2b T A 3: 146,593,441 (GRCm38) T86S probably damaging Het
Eef1akmt1 C T 14: 57,550,632 (GRCm38) V90M probably damaging Het
Egfl7 G T 2: 26,590,980 (GRCm38) W168L probably benign Het
Ep400 A G 5: 110,665,810 (GRCm38) C2908R probably damaging Het
Espl1 A G 15: 102,315,241 (GRCm38) K1076E probably damaging Het
Exoc4 A G 6: 33,910,517 (GRCm38) N747D probably benign Het
Fancm T C 12: 65,077,141 (GRCm38) V191A probably benign Het
Fbxo17 A G 7: 28,732,789 (GRCm38) D97G probably benign Het
Fer1l6 G T 15: 58,600,311 (GRCm38) probably null Het
Flt4 T C 11: 49,627,143 (GRCm38) W337R probably damaging Het
Fpr-rs7 T C 17: 20,113,820 (GRCm38) H136R possibly damaging Het
Frem3 T A 8: 80,613,136 (GRCm38) I686N possibly damaging Het
Galnt9 A G 5: 110,577,449 (GRCm38) K84R probably damaging Het
Gfm2 T A 13: 97,175,676 (GRCm38) M760K probably damaging Het
Glis3 T C 19: 28,666,104 (GRCm38) T13A probably damaging Het
Gm13078 A T 4: 143,728,326 (GRCm38) K398M possibly damaging Het
H2-K1 A G 17: 33,997,076 (GRCm38) V323A possibly damaging Het
Hbb-bs G A 7: 103,826,720 (GRCm38) A130V probably damaging Het
Herc2 T A 7: 56,229,690 (GRCm38) H4685Q probably benign Het
Ighv5-9-1 C T 12: 113,736,294 (GRCm38) R56H possibly damaging Het
Itgb4 A G 11: 116,006,605 (GRCm38) N1548S probably benign Het
Itpr3 T C 17: 27,098,005 (GRCm38) Y745H probably damaging Het
Kank3 G T 17: 33,817,200 (GRCm38) G14V probably damaging Het
Kif24 G T 4: 41,394,329 (GRCm38) S982Y probably damaging Het
Kifc5b C T 17: 26,921,023 (GRCm38) R53W probably damaging Het
Krt39 A G 11: 99,514,749 (GRCm38) S442P possibly damaging Het
Lcat G A 8: 105,942,442 (GRCm38) P67L possibly damaging Het
Maml2 T C 9: 13,621,175 (GRCm38) S562P probably damaging Het
Map3k8 G A 18: 4,349,124 (GRCm38) R65W possibly damaging Het
Mbd3 G T 10: 80,395,576 (GRCm38) R12S probably damaging Het
Msr1 T C 8: 39,624,251 (GRCm38) E106G possibly damaging Het
Myh4 T A 11: 67,254,028 (GRCm38) L1256Q probably damaging Het
Mypn G A 10: 63,147,936 (GRCm38) T511M possibly damaging Het
Nub1 A T 5: 24,701,469 (GRCm38) N331I probably benign Het
Nup107 A G 10: 117,770,511 (GRCm38) V440A possibly damaging Het
Ofcc1 A G 13: 40,214,517 (GRCm38) F174L probably benign Het
Olfr1497 T C 19: 13,795,465 (GRCm38) I49V probably benign Het
Olfr597 A T 7: 103,320,543 (GRCm38) N44I probably damaging Het
Olfr975 A C 9: 39,950,225 (GRCm38) V182G probably damaging Het
Parp2 C A 14: 50,819,268 (GRCm38) L310I probably damaging Het
Pcdh20 A G 14: 88,469,726 (GRCm38) V46A probably benign Het
Pcdhgb6 A G 18: 37,743,472 (GRCm38) D411G probably damaging Het
Pkd1l2 A T 8: 117,072,549 (GRCm38) N267K probably damaging Het
Pkd1l2 T C 8: 117,054,885 (GRCm38) E807G probably benign Het
Rell1 C A 5: 63,936,033 (GRCm38) M126I probably damaging Het
Robo4 G A 9: 37,402,560 (GRCm38) E36K probably benign Het
Rpgrip1l T C 8: 91,261,009 (GRCm38) S807G probably benign Het
Rpl10a T C 17: 28,330,852 (GRCm38) V169A probably benign Het
Rubcn C T 16: 32,847,294 (GRCm38) V166I probably damaging Het
Sall2 T C 14: 52,315,393 (GRCm38) E113G possibly damaging Het
Scaper A G 9: 55,892,235 (GRCm38) I182T probably benign Het
Selp A G 1: 164,141,397 (GRCm38) D522G possibly damaging Het
Sema4b T A 7: 80,198,756 (GRCm38) I35N possibly damaging Het
Sgce A T 6: 4,694,153 (GRCm38) F268I probably damaging Het
Slc14a2 G T 18: 78,192,188 (GRCm38) A258E probably damaging Het
Slc17a9 T C 2: 180,735,949 (GRCm38) Y213H probably benign Het
Slc22a7 T G 17: 46,436,933 (GRCm38) I233L probably benign Het
Slc35f1 A G 10: 53,062,602 (GRCm38) Q210R probably damaging Het
Slc6a21 A G 7: 45,288,310 (GRCm38) E350G possibly damaging Het
Spata21 A T 4: 141,112,091 (GRCm38) D639V probably damaging Het
Svil A G 18: 5,108,631 (GRCm38) D1519G probably damaging Het
Tbccd1 T C 16: 22,841,899 (GRCm38) T56A probably benign Het
Tigit A T 16: 43,662,017 (GRCm38) I118N probably damaging Het
Tlr11 A T 14: 50,362,885 (GRCm38) Q776L possibly damaging Het
Tspan12 A C 6: 21,835,449 (GRCm38) I9S possibly damaging Het
Unc5c T A 3: 141,788,966 (GRCm38) Y347N probably damaging Het
Unk A G 11: 116,054,945 (GRCm38) T481A probably benign Het
Vmn1r192 A C 13: 22,187,480 (GRCm38) V190G probably damaging Het
Vnn3 A T 10: 23,864,575 (GRCm38) M259L probably benign Het
Zan T C 5: 137,408,370 (GRCm38) probably benign Het
Zdhhc6 T C 19: 55,313,210 (GRCm38) H113R probably damaging Het
Other mutations in Sars2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00907:Sars2 APN 7 28,753,423 (GRCm38) unclassified probably benign
IGL01376:Sars2 APN 7 28,749,883 (GRCm38) missense probably damaging 1.00
IGL01633:Sars2 APN 7 28,747,549 (GRCm38) missense probably benign 0.02
IGL02121:Sars2 APN 7 28,752,525 (GRCm38) unclassified probably benign
IGL02488:Sars2 APN 7 28,742,160 (GRCm38) nonsense probably null
IGL03062:Sars2 APN 7 28,746,781 (GRCm38) missense possibly damaging 0.89
R1601:Sars2 UTSW 7 28,748,971 (GRCm38) missense probably benign 0.26
R1857:Sars2 UTSW 7 28,750,012 (GRCm38) missense probably benign 0.00
R1859:Sars2 UTSW 7 28,744,312 (GRCm38) missense probably damaging 0.99
R2193:Sars2 UTSW 7 28,748,997 (GRCm38) missense probably damaging 0.96
R2204:Sars2 UTSW 7 28,749,674 (GRCm38) missense possibly damaging 0.95
R4452:Sars2 UTSW 7 28,750,093 (GRCm38) missense probably benign 0.08
R4514:Sars2 UTSW 7 28,742,284 (GRCm38) critical splice donor site probably null
R5121:Sars2 UTSW 7 28,747,908 (GRCm38) missense probably damaging 0.99
R5434:Sars2 UTSW 7 28,750,291 (GRCm38) missense probably null 1.00
R5849:Sars2 UTSW 7 28,744,258 (GRCm38) missense possibly damaging 0.92
R6668:Sars2 UTSW 7 28,747,004 (GRCm38) missense probably benign 0.01
R7123:Sars2 UTSW 7 28,753,441 (GRCm38) missense probably benign 0.40
R7205:Sars2 UTSW 7 28,744,308 (GRCm38) missense probably benign
R7677:Sars2 UTSW 7 28,746,751 (GRCm38) missense probably benign 0.07
R7902:Sars2 UTSW 7 28,742,203 (GRCm38) missense probably benign 0.29
R8084:Sars2 UTSW 7 28,750,285 (GRCm38) missense probably damaging 1.00
R8320:Sars2 UTSW 7 28,746,868 (GRCm38) missense probably damaging 1.00
R9057:Sars2 UTSW 7 28,746,821 (GRCm38) missense
R9350:Sars2 UTSW 7 28,747,848 (GRCm38) missense probably damaging 1.00
R9461:Sars2 UTSW 7 28,750,013 (GRCm38) missense probably benign 0.00
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2016-04-15