Incidental Mutation 'R5372:Hars2'
ID 428832
Institutional Source Beutler Lab
Gene Symbol Hars2
Ensembl Gene ENSMUSG00000019143
Gene Name histidyl-tRNA synthetase 2
Synonyms HARSR, 4631412B19Rik, HO3, Harsl
MMRRC Submission 042948-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.950) question?
Stock # R5372 (G1)
Quality Score 225
Status Validated
Chromosome 18
Chromosomal Location 36916257-36925615 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 36923534 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 361 (Y361H)
Ref Sequence ENSEMBL: ENSMUSP00000019287 (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 possibly damaging
Transcript: ENSMUST00000019287
AA Change: Y361H

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000019287
Gene: ENSMUSG00000019143
AA Change: Y361H

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 possibly damaging
Transcript: ENSMUST00000152954
AA Change: Y442H

PolyPhen 2 Score 0.641 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000117231
Gene: ENSMUSG00000019143
AA Change: Y442H

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
Meta Mutation Damage Score 0.3581 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.2%
Validation Efficiency 96% (89/93)
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 T A 3: 121,848,988 (GRCm39) D108E probably damaging Het
Abhd12b A G 12: 70,227,800 (GRCm39) D194G probably damaging Het
Adck5 A G 15: 76,478,707 (GRCm39) probably benign Het
Adgrb3 C T 1: 25,167,940 (GRCm39) V792I probably benign Het
Anxa8 G A 14: 33,815,868 (GRCm39) V174M probably damaging Het
Apol9b A T 15: 77,619,920 (GRCm39) R239W probably benign Het
Arhgap26 A G 18: 38,775,509 (GRCm39) noncoding transcript Het
Atrnl1 A G 19: 57,743,968 (GRCm39) Y1190C probably benign Het
Brinp3 T G 1: 146,707,464 (GRCm39) L376R probably damaging Het
Btbd2 A T 10: 80,484,475 (GRCm39) M132K probably damaging Het
C130073F10Rik A T 4: 101,747,684 (GRCm39) I115K probably damaging Het
C1ra T A 6: 124,498,584 (GRCm39) Y426N probably damaging Het
Cacna1b A T 2: 24,623,971 (GRCm39) V203E probably damaging Het
Catsperg1 T A 7: 28,910,137 (GRCm39) D68V probably benign Het
Ccdc158 A C 5: 92,780,419 (GRCm39) S885A possibly damaging Het
Cdc42bpa T C 1: 179,892,544 (GRCm39) V236A probably damaging Het
Cdca7 A T 2: 72,312,793 (GRCm39) E176D probably damaging Het
Cdk17 A G 10: 93,061,901 (GRCm39) D211G probably benign Het
Clca3a2 A C 3: 144,503,286 (GRCm39) M888R probably benign Het
Clcn7 T A 17: 25,376,153 (GRCm39) M568K possibly damaging Het
Clip1 G T 5: 123,768,303 (GRCm39) N811K probably benign Het
Col12a1 T A 9: 79,585,648 (GRCm39) Y1243F probably damaging Het
Dctn1 T A 6: 83,167,192 (GRCm39) D315E probably damaging Het
Dgcr2 T C 16: 17,690,508 (GRCm39) T41A probably benign Het
Dync2h1 G A 9: 7,176,962 (GRCm39) probably benign Het
Ep300 A G 15: 81,521,031 (GRCm39) I1264V unknown Het
Fam167b A T 4: 129,472,092 (GRCm39) L26Q possibly damaging Het
Fam178b T A 1: 36,603,929 (GRCm39) I457F possibly damaging Het
Fgd4 A T 16: 16,302,155 (GRCm39) N133K probably benign Het
Fndc1 C G 17: 7,984,042 (GRCm39) V1295L unknown Het
Gad2 A T 2: 22,580,255 (GRCm39) D552V possibly damaging Het
Heca T A 10: 17,790,887 (GRCm39) S390C probably damaging Het
Hephl1 G T 9: 15,009,195 (GRCm39) Y132* probably null Het
Hormad1 T A 3: 95,483,735 (GRCm39) D182E probably damaging Het
Ifna15 G A 4: 88,476,338 (GRCm39) P49S probably damaging Het
Khsrp T C 17: 57,331,292 (GRCm39) T429A possibly damaging Het
Magi2 A G 5: 20,907,108 (GRCm39) Q1094R possibly damaging Het
Map3k11 T A 19: 5,740,990 (GRCm39) I239K probably damaging Het
Mtus2 A G 5: 148,250,222 (GRCm39) T1319A probably damaging Het
Nup54 A G 5: 92,565,716 (GRCm39) I406T probably damaging Het
Nxpe2 T C 9: 48,250,819 (GRCm39) T43A possibly damaging Het
Nynrin A G 14: 56,105,948 (GRCm39) E889G probably benign Het
Opa1 A C 16: 29,404,937 (GRCm39) H45P probably benign Het
Or14c44 T A 7: 86,062,176 (GRCm39) I202N possibly damaging Het
Or4f60 A G 2: 111,902,454 (GRCm39) I158T probably benign Het
Or56b2j A G 7: 104,353,002 (GRCm39) D76G probably benign Het
Or8a1b T C 9: 37,623,234 (GRCm39) M114V possibly damaging Het
Otx1 C A 11: 21,947,037 (GRCm39) A91S probably damaging Het
Papola A G 12: 105,793,309 (GRCm39) K543R probably benign Het
Plcxd3 G A 15: 4,604,270 (GRCm39) V293I probably benign Het
Polr2g T C 19: 8,774,667 (GRCm39) Y72C probably damaging Het
Ppp1r21 A G 17: 88,858,103 (GRCm39) K205E probably benign Het
Ptpre A G 7: 135,255,669 (GRCm39) K53E possibly damaging Het
Rasal3 T C 17: 32,610,318 (GRCm39) K990E probably benign Het
Rgs3 A T 4: 62,570,934 (GRCm39) probably benign Het
Rhd A G 4: 134,611,943 (GRCm39) T254A possibly damaging Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Scube3 G T 17: 28,371,456 (GRCm39) C57F probably damaging Het
Sh2d5 A G 4: 137,982,010 (GRCm39) D57G possibly damaging Het
Slc12a6 T A 2: 112,177,705 (GRCm39) L608* probably null Het
Slk A T 19: 47,613,832 (GRCm39) N896I probably damaging Het
Smc6 A G 12: 11,332,431 (GRCm39) D211G probably damaging Het
Sox6 A T 7: 115,149,386 (GRCm39) Y371* probably null Het
Srcap G A 7: 127,156,785 (GRCm39) probably null Het
Stard5 T A 7: 83,282,428 (GRCm39) D80E probably damaging Het
Supv3l1 C T 10: 62,268,136 (GRCm39) V570M probably damaging Het
Syt7 G T 19: 10,403,985 (GRCm39) V180L probably damaging Het
Tacc2 T A 7: 130,224,990 (GRCm39) H558Q probably benign Het
Tas2r120 T A 6: 132,634,446 (GRCm39) M176K possibly damaging Het
Tmem135 A T 7: 88,814,382 (GRCm39) probably null Het
Trim35 T C 14: 66,534,715 (GRCm39) V66A possibly damaging Het
Tspan12 A G 6: 21,772,698 (GRCm39) S284P probably benign Het
Ttll3 A T 6: 113,378,382 (GRCm39) K257* probably null Het
Uggt1 C A 1: 36,283,141 (GRCm39) probably benign Het
Vmn2r7 T A 3: 64,623,745 (GRCm39) I283F probably damaging Het
Wdfy2 T G 14: 63,192,334 (GRCm39) H363Q probably damaging Het
Wdr4 T A 17: 31,729,554 (GRCm39) K95N probably damaging Het
Zfp141 T C 7: 42,126,620 (GRCm39) N91S possibly damaging Het
Zfp383 C T 7: 29,614,695 (GRCm39) R317* probably null 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
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
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
Predicted Primers PCR Primer
(F):5'- ATGTCGGCACAGTGATCGTG -3'
(R):5'- ATACTAGTGTCTTAGCCAGTTCTTC -3'

Sequencing Primer
(F):5'- GCACAGTGATCGTGGCTCATTTC -3'
(R):5'- GGCATGACAATATATGCCTGTTGCC -3'
Posted On 2016-09-06