Incidental Mutation 'IGL02805:Hars2'
ID 360394
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 # IGL02805
Quality Score
Status
Chromosome 18
Chromosomal Location 36916257-36925615 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to T at 36920630 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Stop codon at position 158 (R158*)
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 probably null
Transcript: ENSMUST00000019287
AA Change: R158*
SMART Domains Protein: ENSMUSP00000019287
Gene: ENSMUSG00000019143
AA Change: R158*

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 null
Transcript: ENSMUST00000152954
AA Change: R158*
SMART Domains Protein: ENSMUSP00000117231
Gene: ENSMUSG00000019143
AA Change: R158*

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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaca T C 11: 84,113,959 (GRCm39) probably benign Het
Ankdd1b A G 13: 96,580,810 (GRCm39) S163P probably benign Het
Ap5z1 G A 5: 142,456,038 (GRCm39) probably benign Het
Asb14 A G 14: 26,623,144 (GRCm39) N172S possibly damaging Het
Avil G A 10: 126,843,486 (GRCm39) V139I possibly damaging Het
C130073F10Rik A T 4: 101,748,171 (GRCm39) M1K probably null Het
Ccdc33 T A 9: 58,005,874 (GRCm39) I37F probably benign Het
Ccdc9 T C 7: 16,009,199 (GRCm39) M550V probably benign Het
Cfap119 T C 7: 127,185,566 (GRCm39) D121G possibly damaging Het
Cgn T A 3: 94,681,687 (GRCm39) L469F probably damaging Het
Dnaaf3 C T 7: 4,526,704 (GRCm39) G458R possibly damaging Het
Dscaml1 T A 9: 45,359,195 (GRCm39) N151K probably damaging Het
Dsel A G 1: 111,790,046 (GRCm39) V163A probably damaging Het
Epg5 A G 18: 78,073,406 (GRCm39) probably benign Het
Fanca A T 8: 124,016,233 (GRCm39) I670N probably damaging Het
Fsip2 T C 2: 82,823,839 (GRCm39) V6524A probably benign Het
Gm10985 T C 3: 53,752,514 (GRCm39) probably null Het
Gm1818 C T 12: 48,602,518 (GRCm39) noncoding transcript Het
Htr5b A G 1: 121,455,617 (GRCm39) V101A probably damaging Het
Ipp A G 4: 116,386,885 (GRCm39) I356V possibly damaging Het
Itga8 T A 2: 12,194,291 (GRCm39) N703I possibly damaging Het
Or8b3 T A 9: 38,315,132 (GRCm39) probably benign Het
Ppp6r3 T C 19: 3,542,428 (GRCm39) N406D probably benign Het
Rbbp6 G A 7: 122,600,411 (GRCm39) probably benign Het
Rgs7 T C 1: 174,977,262 (GRCm39) Y114C probably damaging Het
Ripor1 A G 8: 106,344,203 (GRCm39) T446A probably damaging Het
Rnf213 A G 11: 119,325,892 (GRCm39) D1562G probably damaging Het
Scaf11 A T 15: 96,318,063 (GRCm39) D500E possibly damaging Het
Spock1 A G 13: 58,055,391 (GRCm39) I4T possibly damaging Het
Srebf2 C A 15: 82,054,045 (GRCm39) N35K probably benign Het
Srgap3 G T 6: 112,704,224 (GRCm39) H922N probably damaging Het
Stk32c A C 7: 138,701,762 (GRCm39) H112Q probably damaging Het
Styxl2 T C 1: 165,926,630 (GRCm39) E994G probably damaging Het
Thumpd3 A G 6: 113,043,758 (GRCm39) D391G probably damaging Het
Vmn2r38 T A 7: 9,078,546 (GRCm39) H612L probably damaging Het
Vsig10l T G 7: 43,114,666 (GRCm39) I289S probably damaging Het
Wwox G A 8: 115,438,753 (GRCm39) G273E probably damaging Het
Zscan4d T G 7: 10,898,897 (GRCm39) 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
IGL02971:Hars2 APN 18 36,919,231 (GRCm39) missense probably damaging 1.00
IGL03373:Hars2 APN 18 36,918,998 (GRCm39) missense probably damaging 0.99
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 2015-12-18