Incidental Mutation 'IGL03373:Hars2'
ID 420381
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hars2
Ensembl Gene ENSMUSG00000019143
Gene Name histidyl-tRNA synthetase 2
Synonyms HARSR, 4631412B19Rik, HO3, Harsl
Accession Numbers
Essential gene? Probably essential (E-score: 0.950) question?
Stock # IGL03373
Quality Score
Status
Chromosome 18
Chromosomal Location 36916257-36925615 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 36918998 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 86 (R86L)
Ref Sequence ENSEMBL: ENSMUSP00000117231 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001416] [ENSMUST00000019287] [ENSMUST00000152954]
AlphaFold Q99KK9
Predicted Effect probably benign
Transcript: ENSMUST00000001416
SMART Domains Protein: ENSMUSP00000001416
Gene: ENSMUSG00000001380

DomainStartEndE-ValueType
WHEP-TRS 7 60 5.37e-11 SMART
Pfam:tRNA-synt_His 61 389 1.9e-41 PFAM
Pfam:HGTP_anticodon2 404 507 3.3e-12 PFAM
Pfam:HGTP_anticodon 410 501 4.4e-18 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000019287
AA Change: R86L

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000019287
Gene: ENSMUSG00000019143
AA Change: R86L

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
Pfam:tRNA-synt_His 61 313 1.3e-23 PFAM
Pfam:tRNA-synt_2b 72 234 2.8e-21 PFAM
Pfam:HGTP_anticodon2 324 424 2.7e-8 PFAM
Pfam:HGTP_anticodon 329 420 2e-18 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124204
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131952
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134122
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145876
Predicted Effect probably damaging
Transcript: ENSMUST00000152954
AA Change: R86L

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000117231
Gene: ENSMUSG00000019143
AA Change: R86L

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
Pfam:tRNA-synt_His 61 389 1e-38 PFAM
Pfam:HGTP_anticodon 410 501 1.8e-16 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155842
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a putative member of the class II family of aminoacyl-tRNA synthetases. These enzymes play a critical role in protein biosynthesis by charging tRNAs with their cognate amino acids. This protein is encoded by the nuclear genome but is likely to be imported to the mitochondrion where it is thought to catalyze the ligation of histidine to tRNA molecules. Mutations in a similar gene in human have been associated with Perrault syndrome 2 (PRLTS2). [provided by RefSeq, Mar 2015]
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam6a A T 12: 113,509,172 (GRCm39) Y515F possibly damaging Het
Adgrv1 A G 13: 81,711,751 (GRCm39) V1075A probably damaging Het
Alox8 T C 11: 69,077,443 (GRCm39) T436A probably benign Het
Cdc7 T A 5: 107,120,785 (GRCm39) probably benign Het
Cdhr1 T A 14: 36,818,257 (GRCm39) D65V possibly damaging Het
Dnase1 A G 16: 3,857,707 (GRCm39) E278G probably damaging Het
Eif3g A T 9: 20,805,722 (GRCm39) probably benign Het
Flnb G A 14: 7,890,867 (GRCm38) probably null Het
Lmod1 C T 1: 135,292,264 (GRCm39) A373V possibly damaging Het
Mdga2 A G 12: 66,763,496 (GRCm39) I200T probably damaging Het
Mup1 T G 4: 60,457,849 (GRCm39) probably benign Het
Nat8f5 A C 6: 85,794,529 (GRCm39) S144A probably benign Het
Ndnf A C 6: 65,681,272 (GRCm39) Y517S possibly damaging Het
Nedd4l G A 18: 65,314,391 (GRCm39) probably benign Het
Nlrp4g A T 9: 124,349,853 (GRCm38) noncoding transcript Het
Nob1 C T 8: 108,144,678 (GRCm39) probably benign Het
Nploc4 G A 11: 120,300,455 (GRCm39) R326* probably null Het
Obox3 A T 7: 15,359,715 (GRCm39) V318D probably benign Het
Or10a3m G A 7: 108,313,339 (GRCm39) V248I probably damaging Het
Or10ag57 T C 2: 87,218,577 (GRCm39) F176S probably damaging Het
Pgm1 T C 4: 99,818,741 (GRCm39) I130T probably damaging Het
Ptprk A T 10: 28,442,533 (GRCm39) D845V probably damaging Het
Ptx4 T A 17: 25,339,873 (GRCm39) S17T probably benign Het
Rasgrf1 T C 9: 89,899,084 (GRCm39) probably benign Het
Rfx6 A G 10: 51,596,096 (GRCm39) T426A probably damaging Het
Sfpq C A 4: 126,920,578 (GRCm39) R564S possibly damaging Het
Spint2 A G 7: 28,957,634 (GRCm39) probably benign Het
Vmn1r27 A G 6: 58,192,689 (GRCm39) I105T probably damaging Het
Vmn1r78 T C 7: 11,887,270 (GRCm39) S294P possibly damaging Het
Vmn2r40 T C 7: 8,923,092 (GRCm39) D423G probably benign Het
Other mutations in Hars2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00715:Hars2 APN 18 36,918,989 (GRCm39) missense probably damaging 1.00
IGL00955:Hars2 APN 18 36,922,410 (GRCm39) splice site probably benign
IGL01570:Hars2 APN 18 36,920,645 (GRCm39) missense probably benign 0.04
IGL01618:Hars2 APN 18 36,922,630 (GRCm39) nonsense probably null
IGL02165:Hars2 APN 18 36,916,447 (GRCm39) start codon destroyed probably null 1.00
IGL02290:Hars2 APN 18 36,918,679 (GRCm39) missense possibly damaging 0.56
IGL02685:Hars2 APN 18 36,924,171 (GRCm39) missense probably benign 0.18
IGL02805:Hars2 APN 18 36,920,630 (GRCm39) nonsense probably null
IGL02971:Hars2 APN 18 36,919,231 (GRCm39) missense probably damaging 1.00
perry UTSW 18 36,923,190 (GRCm39) missense possibly damaging 0.64
R0196:Hars2 UTSW 18 36,922,257 (GRCm39) nonsense probably null
R0543:Hars2 UTSW 18 36,922,477 (GRCm39) missense probably damaging 1.00
R0549:Hars2 UTSW 18 36,919,261 (GRCm39) critical splice donor site probably null
R0557:Hars2 UTSW 18 36,924,130 (GRCm39) missense possibly damaging 0.94
R0893:Hars2 UTSW 18 36,920,648 (GRCm39) missense possibly damaging 0.56
R1188:Hars2 UTSW 18 36,921,022 (GRCm39) missense probably damaging 0.99
R1289:Hars2 UTSW 18 36,916,465 (GRCm39) splice site probably null
R1381:Hars2 UTSW 18 36,922,270 (GRCm39) missense possibly damaging 0.68
R2401:Hars2 UTSW 18 36,922,576 (GRCm39) missense possibly damaging 0.95
R4119:Hars2 UTSW 18 36,923,541 (GRCm39) missense probably damaging 0.98
R4351:Hars2 UTSW 18 36,919,231 (GRCm39) missense probably damaging 1.00
R4404:Hars2 UTSW 18 36,918,989 (GRCm39) missense probably damaging 1.00
R5372:Hars2 UTSW 18 36,923,534 (GRCm39) missense possibly damaging 0.93
R5629:Hars2 UTSW 18 36,921,719 (GRCm39) nonsense probably null
R5886:Hars2 UTSW 18 36,923,150 (GRCm39) intron probably benign
R7069:Hars2 UTSW 18 36,921,009 (GRCm39) missense probably damaging 0.99
R7070:Hars2 UTSW 18 36,924,165 (GRCm39) nonsense probably null
R7188:Hars2 UTSW 18 36,923,614 (GRCm39) missense probably benign 0.08
R7683:Hars2 UTSW 18 36,921,289 (GRCm39) missense probably damaging 1.00
R7834:Hars2 UTSW 18 36,922,634 (GRCm39) missense probably damaging 0.98
R7903:Hars2 UTSW 18 36,919,245 (GRCm39) missense probably damaging 1.00
R8249:Hars2 UTSW 18 36,921,054 (GRCm39) missense probably damaging 0.99
R8329:Hars2 UTSW 18 36,922,288 (GRCm39) missense possibly damaging 0.94
R8362:Hars2 UTSW 18 36,923,228 (GRCm39) missense probably benign
R9079:Hars2 UTSW 18 36,923,190 (GRCm39) missense possibly damaging 0.64
R9720:Hars2 UTSW 18 36,920,607 (GRCm39) missense probably damaging 1.00
RF015:Hars2 UTSW 18 36,918,998 (GRCm39) missense probably damaging 0.99
Z1177:Hars2 UTSW 18 36,923,651 (GRCm39) missense possibly damaging 0.84
Z1177:Hars2 UTSW 18 36,922,628 (GRCm39) missense probably damaging 1.00
Posted On 2016-08-02