Incidental Mutation 'P0038:Lars2'
ID 7720
Institutional Source Beutler Lab
Gene Symbol Lars2
Ensembl Gene ENSMUSG00000035202
Gene Name leucyl-tRNA synthetase, mitochondrial
Synonyms
MMRRC Submission 038287-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # P0038 (G1)
Quality Score
Status Validated
Chromosome 9
Chromosomal Location 123196001-123291731 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 123206842 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 103 (V103A)
Ref Sequence ENSEMBL: ENSMUSP00000150083 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038863] [ENSMUST00000216843] [ENSMUST00000217116]
AlphaFold Q8VDC0
Predicted Effect probably damaging
Transcript: ENSMUST00000038863
AA Change: V103A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000036710
Gene: ENSMUSG00000035202
AA Change: V103A

DomainStartEndE-ValueType
Pfam:tRNA-synt_1 57 223 7.6e-24 PFAM
Pfam:tRNA-synt_1g 83 239 9.3e-20 PFAM
Pfam:tRNA-synt_1_2 269 430 1.1e-8 PFAM
Pfam:tRNA-synt_1 434 609 5.6e-8 PFAM
Pfam:tRNA-synt_1g 589 682 1.2e-6 PFAM
Pfam:tRNA-synt_1 633 678 1.6e-7 PFAM
Pfam:Anticodon_1 724 867 9.2e-13 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000214074
Predicted Effect unknown
Transcript: ENSMUST00000215464
AA Change: V14A
Predicted Effect probably benign
Transcript: ENSMUST00000216843
Predicted Effect probably damaging
Transcript: ENSMUST00000217116
AA Change: V103A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.7054 question?
Coding Region Coverage
  • 1x: 79.6%
  • 3x: 69.7%
  • 10x: 40.2%
  • 20x: 18.1%
Validation Efficiency 86% (80/93)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a class 1 aminoacyl-tRNA synthetase, mitochondrial leucyl-tRNA synthetase. Each of the twenty aminoacyl-tRNA synthetases catalyzes the aminoacylation of a specific tRNA or tRNA isoaccepting family with the cognate amino acid. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 16 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atad2b C A 12: 5,004,536 (GRCm39) probably benign Het
Atmin T A 8: 117,683,775 (GRCm39) C478* probably null Het
Cdh13 G A 8: 119,401,843 (GRCm39) V82M probably damaging Het
Dip2c A C 13: 9,697,018 (GRCm39) T1310P probably damaging Het
Eral1 A T 11: 77,966,847 (GRCm39) D189E probably damaging Het
Fstl5 A G 3: 76,052,369 (GRCm39) Y33C probably damaging Het
Gjb4 A T 4: 127,245,293 (GRCm39) V216D probably benign Het
Mfsd12 C T 10: 81,198,052 (GRCm39) T311I probably benign Het
Mtrex A C 13: 113,047,513 (GRCm39) Y277* probably null Het
Paf1 T C 7: 28,096,350 (GRCm39) probably null Het
Rfc1 T C 5: 65,445,304 (GRCm39) T435A probably damaging Het
Siglec1 T C 2: 130,923,359 (GRCm39) N462S probably benign Het
Tnks1bp1 C T 2: 84,892,755 (GRCm39) T232I probably benign Het
Trpc6 A T 9: 8,649,512 (GRCm39) N574I possibly damaging Het
Ttll7 T C 3: 146,650,939 (GRCm39) F700L possibly damaging Het
Zc3hav1 G A 6: 38,309,469 (GRCm39) T451M probably damaging Het
Other mutations in Lars2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01743:Lars2 APN 9 123,282,313 (GRCm39) missense probably damaging 0.98
IGL01993:Lars2 APN 9 123,224,008 (GRCm39) splice site probably benign
IGL02155:Lars2 APN 9 123,284,047 (GRCm39) missense probably damaging 0.99
IGL02941:Lars2 APN 9 123,288,650 (GRCm39) missense probably damaging 0.97
IGL03090:Lars2 APN 9 123,285,025 (GRCm39) missense probably damaging 1.00
IGL03271:Lars2 APN 9 123,288,549 (GRCm39) splice site probably null
IGL03386:Lars2 APN 9 123,282,455 (GRCm39) nonsense probably null
IGL03410:Lars2 APN 9 123,247,841 (GRCm39) missense possibly damaging 0.87
ulrich UTSW 9 123,247,758 (GRCm39) missense probably damaging 0.99
K3955:Lars2 UTSW 9 123,206,842 (GRCm39) missense probably damaging 1.00
R0276:Lars2 UTSW 9 123,267,186 (GRCm39) splice site probably benign
R1671:Lars2 UTSW 9 123,247,344 (GRCm39) missense probably benign 0.02
R1829:Lars2 UTSW 9 123,260,982 (GRCm39) missense probably benign 0.00
R2219:Lars2 UTSW 9 123,247,845 (GRCm39) missense probably damaging 0.98
R2220:Lars2 UTSW 9 123,247,845 (GRCm39) missense probably damaging 0.98
R4610:Lars2 UTSW 9 123,247,758 (GRCm39) missense probably damaging 0.99
R5027:Lars2 UTSW 9 123,270,560 (GRCm39) missense probably benign 0.38
R5195:Lars2 UTSW 9 123,282,375 (GRCm39) missense probably damaging 0.97
R5597:Lars2 UTSW 9 123,284,047 (GRCm39) missense probably damaging 0.99
R5756:Lars2 UTSW 9 123,267,264 (GRCm39) missense probably damaging 1.00
R5783:Lars2 UTSW 9 123,290,661 (GRCm39) missense probably benign
R6045:Lars2 UTSW 9 123,201,053 (GRCm39) missense probably damaging 1.00
R6235:Lars2 UTSW 9 123,240,945 (GRCm39) missense probably damaging 1.00
R6323:Lars2 UTSW 9 123,270,659 (GRCm39) nonsense probably null
R6377:Lars2 UTSW 9 123,283,825 (GRCm39) missense probably benign 0.00
R6395:Lars2 UTSW 9 123,200,990 (GRCm39) missense probably benign 0.06
R7094:Lars2 UTSW 9 123,288,650 (GRCm39) missense probably damaging 0.99
R7144:Lars2 UTSW 9 123,261,058 (GRCm39) missense probably damaging 1.00
R7233:Lars2 UTSW 9 123,241,019 (GRCm39) nonsense probably null
R7254:Lars2 UTSW 9 123,284,028 (GRCm39) missense possibly damaging 0.93
R7350:Lars2 UTSW 9 123,256,545 (GRCm39) missense probably damaging 1.00
R7413:Lars2 UTSW 9 123,288,568 (GRCm39) missense probably benign 0.30
R7614:Lars2 UTSW 9 123,224,176 (GRCm39) missense
R7683:Lars2 UTSW 9 123,206,895 (GRCm39) critical splice donor site probably null
R8000:Lars2 UTSW 9 123,265,309 (GRCm39) missense probably damaging 1.00
R8061:Lars2 UTSW 9 123,288,562 (GRCm39) missense probably benign
R8355:Lars2 UTSW 9 123,283,780 (GRCm39) missense probably damaging 1.00
R8364:Lars2 UTSW 9 123,241,019 (GRCm39) nonsense probably null
R8818:Lars2 UTSW 9 123,221,892 (GRCm39) missense possibly damaging 0.94
R9007:Lars2 UTSW 9 123,260,980 (GRCm39) nonsense probably null
R9351:Lars2 UTSW 9 123,265,366 (GRCm39) missense probably benign 0.38
Z1177:Lars2 UTSW 9 123,283,847 (GRCm39) missense probably damaging 1.00
Posted On 2012-10-29