Incidental Mutation 'R9461:Sars2'
ID 714865
Institutional Source Beutler Lab
Gene Symbol Sars2
Ensembl Gene ENSMUSG00000070699
Gene Name seryl-aminoacyl-tRNA synthetase 2
Synonyms D7Ertd353e, 2410015F05Rik
MMRRC Submission
Accession Numbers
Essential gene? Probably essential (E-score: 0.868) question?
Stock # R9461 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 28441417-28453296 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 28449438 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Threonine at position 322 (M322T)
Ref Sequence ENSEMBL: ENSMUSP00000092216 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094632] [ENSMUST00000207877]
AlphaFold Q9JJL8
Predicted Effect probably benign
Transcript: ENSMUST00000094632
AA Change: M322T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000092216
Gene: ENSMUSG00000070699
AA Change: M322T

DomainStartEndE-ValueType
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: ENSMUST00000207877
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 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 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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb9 T C 5: 124,228,176 (GRCm39) T22A possibly damaging Het
Abhd18 A T 3: 40,859,319 (GRCm39) probably null Het
Aox1 G A 1: 58,116,736 (GRCm39) probably null Het
Arpp21 C A 9: 111,965,704 (GRCm39) R422L probably damaging Het
Ccdc190 G A 1: 169,761,489 (GRCm39) G197D probably benign Het
Cdc42bpa G T 1: 179,969,861 (GRCm39) L1243F probably damaging Het
Ces2b T A 8: 105,564,011 (GRCm39) F462I probably benign Het
Cfap45 A G 1: 172,362,894 (GRCm39) E295G possibly damaging Het
Chst13 G A 6: 90,286,506 (GRCm39) P152L probably damaging Het
Col24a1 G T 3: 145,186,879 (GRCm39) E1227* probably null Het
Col5a1 A T 2: 27,922,616 (GRCm39) D1717V unknown Het
Dab2 T C 15: 6,460,435 (GRCm39) S448P possibly damaging Het
Dnajb1 T C 8: 84,335,173 (GRCm39) probably null Het
Dock9 C T 14: 121,842,601 (GRCm39) G1223D probably benign Het
Elp2 A G 18: 24,765,869 (GRCm39) R670G probably damaging Het
Eppk1 T C 15: 75,994,668 (GRCm39) I738V probably benign Het
Gas2l2 T A 11: 83,313,031 (GRCm39) R760S probably damaging Het
H1f7 C T 15: 98,155,138 (GRCm39) A4T probably damaging Het
Kif17 G A 4: 138,005,253 (GRCm39) V273I probably damaging Het
Klhdc4 T C 8: 122,526,224 (GRCm39) D336G probably damaging Het
Lmod2 A G 6: 24,603,568 (GRCm39) N181S probably benign Het
Lrp8 G A 4: 107,700,515 (GRCm39) G151D possibly damaging Het
Mb21d2 C T 16: 28,647,261 (GRCm39) V238M probably damaging Het
Mfsd4b3-ps T G 10: 39,823,247 (GRCm39) I338L probably benign Het
Nkain2 C T 10: 32,766,125 (GRCm39) A112T unknown Het
Or14c41 T A 7: 86,235,247 (GRCm39) Y255N possibly damaging Het
Or52n2b T A 7: 104,565,583 (GRCm39) I307F probably benign Het
Or5b12b T A 19: 12,861,875 (GRCm39) V210E possibly damaging Het
Or5i1 A G 2: 87,612,883 (GRCm39) I2V probably benign Het
Pacs2 A G 12: 113,010,727 (GRCm39) I126V probably benign Het
Phyhipl T C 10: 70,395,243 (GRCm39) Y321C possibly damaging Het
Ppm1k T C 6: 57,487,720 (GRCm39) S368G probably damaging Het
Ranbp6 T C 19: 29,787,163 (GRCm39) D1063G possibly damaging Het
Serbp1 G A 6: 67,244,313 (GRCm39) R78H probably benign Het
Sfxn2 T A 19: 46,574,192 (GRCm39) N127K probably damaging Het
Sgsm1 A T 5: 113,423,898 (GRCm39) probably null Het
Slc22a22 T C 15: 57,108,342 (GRCm39) Y491C probably damaging Het
Slc22a22 T A 15: 57,127,052 (GRCm39) I6F probably damaging Het
Smpd1 C T 7: 105,204,789 (GRCm39) L223F probably damaging Het
Spem1 T C 11: 69,711,741 (GRCm39) K308E probably benign Het
Spsb1 A T 4: 149,990,907 (GRCm39) C220* probably null Het
Syngap1 T A 17: 27,173,962 (GRCm39) S190R possibly damaging Het
Tars3 T C 7: 65,339,719 (GRCm39) S705P possibly damaging Het
Tbc1d16 G T 11: 119,044,781 (GRCm39) F553L probably damaging Het
Thbs2 A G 17: 14,910,435 (GRCm39) Y55H probably damaging Het
Tmem220 T C 11: 66,924,979 (GRCm39) I138T possibly damaging Het
Tut7 G A 13: 59,963,512 (GRCm39) T282I probably damaging Het
Txnl1 T C 18: 63,810,050 (GRCm39) N131S probably benign Het
Vat1 T C 11: 101,353,846 (GRCm39) T175A possibly damaging Het
Veph1 T A 3: 66,029,066 (GRCm39) D651V probably benign Het
Zfp281 T A 1: 136,554,500 (GRCm39) S493T probably benign Het
Zpld2 G A 4: 133,929,312 (GRCm39) P331L probably benign Het
Other mutations in Sars2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00907:Sars2 APN 7 28,452,848 (GRCm39) unclassified probably benign
IGL01376:Sars2 APN 7 28,449,308 (GRCm39) missense probably damaging 1.00
IGL01633:Sars2 APN 7 28,446,974 (GRCm39) missense probably benign 0.02
IGL02121:Sars2 APN 7 28,451,950 (GRCm39) unclassified probably benign
IGL02488:Sars2 APN 7 28,441,585 (GRCm39) nonsense probably null
IGL03062:Sars2 APN 7 28,446,206 (GRCm39) missense possibly damaging 0.89
R1601:Sars2 UTSW 7 28,448,396 (GRCm39) missense probably benign 0.26
R1857:Sars2 UTSW 7 28,449,437 (GRCm39) missense probably benign 0.00
R1859:Sars2 UTSW 7 28,443,737 (GRCm39) missense probably damaging 0.99
R2193:Sars2 UTSW 7 28,448,422 (GRCm39) missense probably damaging 0.96
R2204:Sars2 UTSW 7 28,449,099 (GRCm39) missense possibly damaging 0.95
R4452:Sars2 UTSW 7 28,449,518 (GRCm39) missense probably benign 0.08
R4514:Sars2 UTSW 7 28,441,709 (GRCm39) critical splice donor site probably null
R4921:Sars2 UTSW 7 28,451,863 (GRCm39) missense possibly damaging 0.81
R5121:Sars2 UTSW 7 28,447,333 (GRCm39) missense probably damaging 0.99
R5434:Sars2 UTSW 7 28,449,716 (GRCm39) missense probably null 1.00
R5849:Sars2 UTSW 7 28,443,683 (GRCm39) missense possibly damaging 0.92
R6668:Sars2 UTSW 7 28,446,429 (GRCm39) missense probably benign 0.01
R7123:Sars2 UTSW 7 28,452,866 (GRCm39) missense probably benign 0.40
R7205:Sars2 UTSW 7 28,443,733 (GRCm39) missense probably benign
R7677:Sars2 UTSW 7 28,446,176 (GRCm39) missense probably benign 0.07
R7902:Sars2 UTSW 7 28,441,628 (GRCm39) missense probably benign 0.29
R8084:Sars2 UTSW 7 28,449,710 (GRCm39) missense probably damaging 1.00
R8320:Sars2 UTSW 7 28,446,293 (GRCm39) missense probably damaging 1.00
R9057:Sars2 UTSW 7 28,446,246 (GRCm39) missense
R9350:Sars2 UTSW 7 28,447,273 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTCCTGTGGGTAATGGCAGC -3'
(R):5'- ACTCATCCAACAGCTGCGAG -3'

Sequencing Primer
(F):5'- TGGGTAATGGCAGCCCTGG -3'
(R):5'- GGGCCTGTCACCCCAAAC -3'
Posted On 2022-06-15