Incidental Mutation 'R9561:Yars2'
ID 721032
Institutional Source Beutler Lab
Gene Symbol Yars2
Ensembl Gene ENSMUSG00000022792
Gene Name tyrosyl-tRNA synthetase 2 (mitochondrial)
Synonyms 2210023C10Rik
MMRRC Submission
Accession Numbers
Essential gene? Probably essential (E-score: 0.956) question?
Stock # R9561 (G1)
Quality Score 225.009
Status Not validated
Chromosome 16
Chromosomal Location 16120829-16127504 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 16127242 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Leucine at position 436 (V436L)
Ref Sequence ENSEMBL: ENSMUSP00000055277 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023477] [ENSMUST00000059955] [ENSMUST00000096229] [ENSMUST00000115749] [ENSMUST00000159683] [ENSMUST00000159962] [ENSMUST00000162734] [ENSMUST00000230022] [ENSMUST00000230980]
AlphaFold Q8BYL4
Predicted Effect probably benign
Transcript: ENSMUST00000023477
SMART Domains Protein: ENSMUSP00000023477
Gene: ENSMUSG00000022789

DomainStartEndE-ValueType
DYNc 1 255 9.83e-124 SMART
low complexity region 556 571 N/A INTRINSIC
GED 602 693 2.52e-45 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000059955
AA Change: V436L

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000055277
Gene: ENSMUSG00000022792
AA Change: V436L

DomainStartEndE-ValueType
Pfam:tRNA-synt_1b 64 370 5.9e-74 PFAM
Blast:S4 403 466 1e-10 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000096229
SMART Domains Protein: ENSMUSP00000093945
Gene: ENSMUSG00000022789

DomainStartEndE-ValueType
DYNc 1 268 1.75e-120 SMART
low complexity region 569 584 N/A INTRINSIC
GED 615 706 2.52e-45 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000115749
SMART Domains Protein: ENSMUSP00000111415
Gene: ENSMUSG00000022789

DomainStartEndE-ValueType
DYNc 1 261 2.08e-122 SMART
low complexity region 573 588 N/A INTRINSIC
GED 619 710 2.52e-45 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000159683
SMART Domains Protein: ENSMUSP00000124606
Gene: ENSMUSG00000022792

DomainStartEndE-ValueType
Pfam:tRNA-synt_1b 64 332 1.4e-63 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000159962
SMART Domains Protein: ENSMUSP00000125252
Gene: ENSMUSG00000022792

DomainStartEndE-ValueType
Pfam:tRNA-synt_1b 64 332 1.4e-63 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000162734
SMART Domains Protein: ENSMUSP00000125496
Gene: ENSMUSG00000022792

DomainStartEndE-ValueType
Pfam:tRNA-synt_1b 1 102 7.2e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000230022
Predicted Effect probably benign
Transcript: ENSMUST00000230980
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a mitochondrial protein that catalyzes the attachment of tyrosine to tRNA(Tyr). Mutations in this gene are associated with myopathy with lactic acidosis and sideroblastic anemia type 2 (MLASA2). [provided by RefSeq, Jan 2011]
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930562C15Rik A G 16: 4,680,980 (GRCm39) I106V possibly damaging Het
Aars1 C A 8: 111,763,615 (GRCm39) F18L probably damaging Het
Abca7 C T 10: 79,837,535 (GRCm39) T473I probably damaging Het
Ap1m2 A T 9: 21,209,524 (GRCm39) I384N probably damaging Het
Atg16l2 G A 7: 100,948,248 (GRCm39) Q99* probably null Het
Bptf A T 11: 106,964,954 (GRCm39) Y1413* probably null Het
Cat T C 2: 103,307,250 (GRCm39) T28A probably damaging Het
Ccdc65 T A 15: 98,620,759 (GRCm39) V418D probably benign Het
Cd226 A C 18: 89,265,444 (GRCm39) I241L probably benign Het
Crybg1 A G 10: 43,873,428 (GRCm39) S1227P probably benign Het
Csn2 C T 5: 87,842,794 (GRCm39) A78T probably benign Het
Cyp21a1 T A 17: 35,021,652 (GRCm39) H305L possibly damaging Het
Ddx55 A G 5: 124,706,707 (GRCm39) E572G possibly damaging Het
Dguok A G 6: 83,467,548 (GRCm39) Y100H probably damaging Het
Dync1h1 T A 12: 110,615,533 (GRCm39) S2955R probably damaging Het
Etfbkmt A T 6: 149,045,640 (GRCm39) probably benign Het
Fam222a T A 5: 114,749,347 (GRCm39) I181N probably damaging Het
Fam24b T C 7: 130,927,877 (GRCm39) D104G probably benign Het
Fbn2 A T 18: 58,181,611 (GRCm39) C1883* probably null Het
Fchsd2 T G 7: 100,920,778 (GRCm39) L461R probably benign Het
Hdgfl1 C T 13: 26,953,239 (GRCm39) G278E probably damaging Het
Hectd4 G A 5: 121,472,532 (GRCm39) R2756Q possibly damaging Het
Ints14 A G 9: 64,882,932 (GRCm39) D261G probably damaging Het
Mapkapk5 C T 5: 121,672,490 (GRCm39) A163T probably benign Het
Micu3 A T 8: 40,835,156 (GRCm39) K504* probably null Het
Myh1 C G 11: 67,108,618 (GRCm39) H1345D possibly damaging Het
Myh7 C A 14: 55,216,146 (GRCm39) R1289L probably damaging Het
Neb G T 2: 52,132,068 (GRCm39) H280Q Het
Nrbp1 T A 5: 31,404,771 (GRCm39) probably null Het
Oacyl T A 18: 65,831,414 (GRCm39) V17D possibly damaging Het
Obsl1 C A 1: 75,480,157 (GRCm39) R463L possibly damaging Het
Or1f19 T A 16: 3,410,725 (GRCm39) L155Q probably damaging Het
Or8b40 G A 9: 38,028,010 (GRCm39) S311N probably benign Het
Pcnt A T 10: 76,217,128 (GRCm39) C2184* probably null Het
Pfpl G C 19: 12,406,297 (GRCm39) E183Q probably damaging Het
Phrf1 T G 7: 140,834,815 (GRCm39) S198A unknown Het
Plekhg2 C G 7: 28,064,249 (GRCm39) A431P probably damaging Het
Ppp1r13b C T 12: 111,810,077 (GRCm39) D244N probably damaging Het
Raph1 T C 1: 60,564,887 (GRCm39) E200G possibly damaging Het
Rnf6 A G 5: 146,147,936 (GRCm39) S361P probably benign Het
Scgb2b19 G A 7: 32,978,039 (GRCm39) A86V probably benign Het
Sec23b T A 2: 144,408,728 (GRCm39) C138S possibly damaging Het
Slco1c1 T C 6: 141,505,606 (GRCm39) S511P possibly damaging Het
Tas2r130 A G 6: 131,607,175 (GRCm39) S207P probably damaging Het
Tdpoz1 A T 3: 93,578,540 (GRCm39) H81Q probably benign Het
Usp8 A G 2: 126,578,414 (GRCm39) K289E probably damaging Het
Vmn1r18 A C 6: 57,367,202 (GRCm39) N117K probably benign Het
Vps13c G T 9: 67,872,794 (GRCm39) G3270V probably damaging Het
Wdr20 A G 12: 110,760,187 (GRCm39) T358A probably benign Het
Wwc1 A C 11: 35,870,796 (GRCm39) probably null Het
Zfp609 G A 9: 65,604,512 (GRCm39) Q1324* probably null Het
Zfp81 T C 17: 33,553,774 (GRCm39) T347A probably benign Het
Zgpat T C 2: 181,021,366 (GRCm39) V292A probably benign Het
Other mutations in Yars2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00234:Yars2 APN 16 16,121,185 (GRCm39) missense probably damaging 0.99
IGL01061:Yars2 APN 16 16,124,406 (GRCm39) nonsense probably null
IGL01062:Yars2 APN 16 16,124,406 (GRCm39) nonsense probably null
IGL01063:Yars2 APN 16 16,124,406 (GRCm39) nonsense probably null
IGL01066:Yars2 APN 16 16,124,406 (GRCm39) nonsense probably null
IGL01069:Yars2 APN 16 16,124,406 (GRCm39) nonsense probably null
IGL01070:Yars2 APN 16 16,124,406 (GRCm39) nonsense probably null
IGL02928:Yars2 APN 16 16,121,410 (GRCm39) missense probably damaging 1.00
R4718:Yars2 UTSW 16 16,127,204 (GRCm39) missense probably benign 0.00
R5012:Yars2 UTSW 16 16,121,448 (GRCm39) missense probably damaging 0.98
R5498:Yars2 UTSW 16 16,124,387 (GRCm39) missense possibly damaging 0.62
R5585:Yars2 UTSW 16 16,122,484 (GRCm39) missense probably damaging 1.00
R5935:Yars2 UTSW 16 16,127,335 (GRCm39) missense probably benign 0.02
R6302:Yars2 UTSW 16 16,122,438 (GRCm39) missense probably damaging 1.00
R6344:Yars2 UTSW 16 16,120,899 (GRCm39) missense probably benign
R7218:Yars2 UTSW 16 16,121,182 (GRCm39) missense probably damaging 1.00
R7235:Yars2 UTSW 16 16,122,556 (GRCm39) missense probably benign
R7838:Yars2 UTSW 16 16,122,385 (GRCm39) splice site probably null
R8311:Yars2 UTSW 16 16,125,147 (GRCm39) missense probably benign 0.00
X0062:Yars2 UTSW 16 16,120,882 (GRCm39) missense probably benign 0.13
Predicted Primers PCR Primer
(F):5'- CTGAAAGTGAATCTGTCAAAGCTG -3'
(R):5'- CACTCTTGGGTTTCCGAAGAC -3'

Sequencing Primer
(F):5'- CCCTGCTCAAAGCTGATAGAGTTG -3'
(R):5'- TGGGTTTCCGAAGACCTCCAC -3'
Posted On 2022-08-09