Incidental Mutation 'IGL03090:Lars2'
ID 418322
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lars2
Ensembl Gene ENSMUSG00000035202
Gene Name leucyl-tRNA synthetase, mitochondrial
Synonyms
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL03090
Quality Score
Status
Chromosome 9
Chromosomal Location 123196001-123291731 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 123285025 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Arginine at position 786 (M786R)
Ref Sequence ENSEMBL: ENSMUSP00000036710 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038863] [ENSMUST00000217116]
AlphaFold Q8VDC0
Predicted Effect probably damaging
Transcript: ENSMUST00000038863
AA Change: M786R

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000036710
Gene: ENSMUSG00000035202
AA Change: M786R

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: ENSMUST00000213711
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215087
Predicted Effect probably benign
Transcript: ENSMUST00000217116
Coding Region Coverage
Validation Efficiency
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam20 A G 8: 41,247,965 (GRCm39) Y25C probably benign Het
Agap3 A C 5: 24,706,204 (GRCm39) T823P possibly damaging Het
Arap3 T C 18: 38,122,165 (GRCm39) E641G probably benign Het
Armc6 C T 8: 70,684,004 (GRCm39) R16Q probably benign Het
Asb15 T A 6: 24,567,185 (GRCm39) I502K possibly damaging Het
Atp8b3 T A 10: 80,366,438 (GRCm39) N275I probably damaging Het
Calr G A 8: 85,573,373 (GRCm39) P19S possibly damaging Het
Cdc6 T A 11: 98,810,122 (GRCm39) L477* probably null Het
Clba1 T C 12: 112,779,340 (GRCm39) probably null Het
Cnnm4 A G 1: 36,510,952 (GRCm39) D60G probably benign Het
Col12a1 G T 9: 79,585,652 (GRCm39) Q1242K probably damaging Het
Dusp18 T A 11: 3,847,466 (GRCm39) I152N probably damaging Het
Eef1akmt1 T C 14: 57,795,543 (GRCm39) T69A probably damaging Het
Efhb T C 17: 53,769,958 (GRCm39) Q117R probably benign Het
Fancd2 T A 6: 113,514,558 (GRCm39) probably null Het
Fat3 C T 9: 16,288,535 (GRCm39) W329* probably null Het
Frem3 A G 8: 81,344,858 (GRCm39) Y1727C probably benign Het
Fut2 C T 7: 45,300,193 (GRCm39) G193E possibly damaging Het
Gatb C A 3: 85,526,330 (GRCm39) probably benign Het
Gpr33 A T 12: 52,070,809 (GRCm39) S77T probably damaging Het
Gramd1c A T 16: 43,802,463 (GRCm39) D649E probably benign Het
Herc2 T A 7: 55,854,221 (GRCm39) L3745H probably damaging Het
Klk1b11 T A 7: 43,426,977 (GRCm39) M87K probably benign Het
Krt39 T G 11: 99,409,833 (GRCm39) probably benign Het
Lamc3 T A 2: 31,798,710 (GRCm39) probably benign Het
Lmcd1 T A 6: 112,287,460 (GRCm39) S49T probably benign Het
Lrba T C 3: 86,680,448 (GRCm39) Y2689H probably benign Het
Map3k6 T C 4: 132,970,677 (GRCm39) V188A probably benign Het
Mbd6 A C 10: 127,123,013 (GRCm39) L49W probably damaging Het
Myo5a A T 9: 75,028,115 (GRCm39) Y100F probably damaging Het
Myo9a T A 9: 59,801,418 (GRCm39) probably benign Het
Ncoa7 T C 10: 30,538,396 (GRCm39) D663G probably damaging Het
Nup214 A T 2: 31,908,254 (GRCm39) M1075L probably benign Het
Pkd1l3 C A 8: 110,382,165 (GRCm39) Y240* probably null Het
Pomk T A 8: 26,473,338 (GRCm39) N205I probably damaging Het
Sdr16c5 A G 4: 4,006,575 (GRCm39) probably benign Het
Setd1a A G 7: 127,385,672 (GRCm39) E250G possibly damaging Het
Slc26a6 A G 9: 108,737,890 (GRCm39) E541G probably benign Het
Slc4a3 A G 1: 75,531,661 (GRCm39) E876G probably benign Het
Srrm4 A G 5: 116,587,643 (GRCm39) probably benign Het
Stx12 A G 4: 132,590,540 (GRCm39) V119A probably benign Het
Tmem8b T A 4: 43,689,721 (GRCm39) S333T probably damaging Het
Usp31 T C 7: 121,278,753 (GRCm39) probably benign Het
Utp18 T C 11: 93,759,245 (GRCm39) R410G probably damaging Het
Vmn1r172 T C 7: 23,359,463 (GRCm39) I116T probably damaging Het
Vwa8 T A 14: 79,172,041 (GRCm39) L274Q possibly damaging Het
Wdfy3 A T 5: 102,014,142 (GRCm39) F2655I probably damaging Het
Zfp423 A T 8: 88,508,071 (GRCm39) Y737N probably damaging Het
Zyx C A 6: 42,334,276 (GRCm39) S500* probably null 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
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
P0038: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 2016-08-02