Incidental Mutation 'IGL01618:Hars2'
ID 92465
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hars2
Ensembl Gene ENSMUSG00000019143
Gene Name histidyl-tRNA synthetase 2
Synonyms Harsl, HARSR, HO3
Accession Numbers
Essential gene? Probably essential (E-score: 0.939) question?
Stock # IGL01618
Quality Score
Status
Chromosome 18
Chromosomal Location 36783008-36792562 bp(+) (GRCm38)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 36789577 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Arginine to Stop codon at position 388 (R388*)
Ref Sequence ENSEMBL: ENSMUSP00000117231 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001419] [ENSMUST00000019287] [ENSMUST00000152954]
AlphaFold Q99KK9
Predicted Effect probably benign
Transcript: ENSMUST00000001419
SMART Domains Protein: ENSMUSP00000001419
Gene: ENSMUSG00000001383

DomainStartEndE-ValueType
ZnF_U1 77 111 2.41e-11 SMART
ZnF_C2H2 80 104 5.48e0 SMART
coiled coil region 118 180 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000019287
SMART Domains Protein: ENSMUSP00000019287
Gene: ENSMUSG00000019143

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: R388*
SMART Domains Protein: ENSMUSP00000117231
Gene: ENSMUSG00000019143
AA Change: R388*

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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsl5 C T 19: 55,272,833 A74V probably benign Het
Adh4 C T 3: 138,429,027 probably benign Het
Aldh1a3 G A 7: 66,409,230 T239I probably damaging Het
Anxa9 A G 3: 95,300,536 probably null Het
Atp5k C A 5: 108,434,033 K28N probably damaging Het
C9 T G 15: 6,459,668 Y169D probably benign Het
Cbwd1 T C 19: 24,940,776 E210G possibly damaging Het
Chat T A 14: 32,446,892 probably null Het
Csmd3 C T 15: 48,011,083 E706K probably benign Het
Ctbs A G 3: 146,455,112 K145E probably benign Het
Dennd5a A G 7: 109,934,095 M156T probably damaging Het
Dhx29 A G 13: 112,965,222 Y1275C probably damaging Het
Dpp10 A T 1: 123,367,867 F517Y probably benign Het
Dst G A 1: 34,188,909 W1536* probably null Het
Galc T C 12: 98,252,081 T171A possibly damaging Het
Gsap T C 5: 21,226,248 I190T probably damaging Het
Igsf21 C T 4: 140,107,364 G66S possibly damaging Het
Itgbl1 T A 14: 123,827,799 S122T possibly damaging Het
Jhy G T 9: 40,960,964 T83K possibly damaging Het
Kcne4 A T 1: 78,817,808 M58L possibly damaging Het
Lamc3 T A 2: 31,912,107 I509N probably damaging Het
Lpar6 T C 14: 73,239,066 S156P probably damaging Het
Man2c1 T C 9: 57,141,556 probably benign Het
March11 T C 15: 26,409,199 I328T possibly damaging Het
Mc3r T A 2: 172,249,370 C171S probably benign Het
Muc4 A T 16: 32,756,627 Q2167L unknown Het
Myom1 T C 17: 71,099,993 V1135A possibly damaging Het
Nectin1 C T 9: 43,791,258 R101* probably null Het
Nxpe4 T C 9: 48,394,140 S277P possibly damaging Het
Olfr1152 A C 2: 87,868,144 D51A probably damaging Het
Olfr1459 T A 19: 13,146,250 K136N probably benign Het
Olfr395 T C 11: 73,907,477 N5S probably damaging Het
Olfr437 T A 6: 43,167,703 V215E probably damaging Het
Olfr584 G A 7: 103,086,375 V281I probably benign Het
Pappa2 G T 1: 158,857,378 N730K probably damaging Het
Prepl A G 17: 85,066,281 V586A probably damaging Het
Prrc2a T C 17: 35,149,553 Y2098C probably damaging Het
Rdh16 G A 10: 127,801,307 C37Y probably damaging Het
Rnd1 A T 15: 98,673,865 M100K probably benign Het
Sema3c A G 5: 17,672,506 N204D probably damaging Het
Susd4 A G 1: 182,858,461 probably null Het
Taar7f G T 10: 24,050,341 A278S possibly damaging Het
Tle4 T A 19: 14,544,814 M122L probably benign Het
Trim9 C T 12: 70,248,351 V662I probably benign Het
Vmn2r10 C A 5: 109,002,479 C233F probably damaging Het
Vmn2r98 A C 17: 19,065,259 T114P possibly damaging Het
Zfyve21 C T 12: 111,827,813 probably benign Het
Other mutations in Hars2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00715:Hars2 APN 18 36785936 missense probably damaging 1.00
IGL00955:Hars2 APN 18 36789357 splice site probably benign
IGL01570:Hars2 APN 18 36787592 missense probably benign 0.04
IGL02165:Hars2 APN 18 36783394 start codon destroyed probably null 1.00
IGL02290:Hars2 APN 18 36785626 missense possibly damaging 0.56
IGL02685:Hars2 APN 18 36791118 missense probably benign 0.18
IGL02805:Hars2 APN 18 36787577 nonsense probably null
IGL02971:Hars2 APN 18 36786178 missense probably damaging 1.00
IGL03373:Hars2 APN 18 36785945 missense probably damaging 0.99
perry UTSW 18 36790137 missense possibly damaging 0.64
R0196:Hars2 UTSW 18 36789204 nonsense probably null
R0543:Hars2 UTSW 18 36789424 missense probably damaging 1.00
R0549:Hars2 UTSW 18 36786208 critical splice donor site probably null
R0557:Hars2 UTSW 18 36791077 missense possibly damaging 0.94
R0893:Hars2 UTSW 18 36787595 missense possibly damaging 0.56
R1188:Hars2 UTSW 18 36787969 missense probably damaging 0.99
R1289:Hars2 UTSW 18 36783412 splice site probably null
R1381:Hars2 UTSW 18 36789217 missense possibly damaging 0.68
R2401:Hars2 UTSW 18 36789523 missense possibly damaging 0.95
R4119:Hars2 UTSW 18 36790488 missense probably damaging 0.98
R4351:Hars2 UTSW 18 36786178 missense probably damaging 1.00
R4404:Hars2 UTSW 18 36785936 missense probably damaging 1.00
R5372:Hars2 UTSW 18 36790481 missense possibly damaging 0.93
R5629:Hars2 UTSW 18 36788666 nonsense probably null
R5886:Hars2 UTSW 18 36790097 intron probably benign
R7069:Hars2 UTSW 18 36787956 missense probably damaging 0.99
R7070:Hars2 UTSW 18 36791112 nonsense probably null
R7188:Hars2 UTSW 18 36790561 missense probably benign 0.08
R7683:Hars2 UTSW 18 36788236 missense probably damaging 1.00
R7834:Hars2 UTSW 18 36789581 missense probably damaging 0.98
R7903:Hars2 UTSW 18 36786192 missense probably damaging 1.00
R8249:Hars2 UTSW 18 36788001 missense probably damaging 0.99
R8329:Hars2 UTSW 18 36789235 missense possibly damaging 0.94
R8362:Hars2 UTSW 18 36790175 missense probably benign
R9079:Hars2 UTSW 18 36790137 missense possibly damaging 0.64
R9720:Hars2 UTSW 18 36787554 missense probably damaging 1.00
RF015:Hars2 UTSW 18 36785945 missense probably damaging 0.99
Z1177:Hars2 UTSW 18 36789575 missense probably damaging 1.00
Z1177:Hars2 UTSW 18 36790598 missense possibly damaging 0.84
Posted On 2013-12-09