Incidental Mutation 'P0005:Dars2'
ID7634
Institutional Source Beutler Lab
Gene Symbol Dars2
Ensembl Gene ENSMUSG00000026709
Gene Nameaspartyl-tRNA synthetase 2 (mitochondrial)
Synonyms5830468K18Rik
MMRRC Submission 038262-MU
Accession Numbers

Ncbi RefSeq: NM_172644.3; MGI: 2442510

Is this an essential gene? Essential (E-score: 1.000) question?
Stock #P0005 (G1)
Quality Score
Status Validated
Chromosome1
Chromosomal Location161040601-161070658 bp(-) (GRCm38)
Type of Mutationcritical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 161053939 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000041851 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035430]
Predicted Effect probably null
Transcript: ENSMUST00000035430
SMART Domains Protein: ENSMUSP00000041851
Gene: ENSMUSG00000026709

DomainStartEndE-ValueType
Pfam:tRNA_anti-codon 65 148 7e-10 PFAM
Pfam:tRNA-synt_2 165 607 1.2e-90 PFAM
Pfam:GAD 355 451 2e-13 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160591
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160759
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162654
Meta Mutation Damage Score 0.9503 question?
Coding Region Coverage
  • 1x: 85.5%
  • 3x: 80.5%
  • 10x: 66.1%
  • 20x: 49.6%
Validation Efficiency 95% (104/109)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the class-II aminoacyl-tRNA synthetase family. It is a mitochondrial enzyme that specifically aminoacylates aspartyl-tRNA. Mutations in this gene are associated with leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL). [provided by RefSeq, Nov 2009]
Allele List at MGI

All alleles(5) : Targeted(2) Gene trapped(3)

Other mutations in this stock
Total: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933406M09Rik T A 1: 134,387,908 M15K probably benign Het
Atp13a1 T C 8: 69,803,747 V845A possibly damaging Het
C87499 A G 4: 88,627,950 L385P probably damaging Het
Casp6 T C 3: 129,912,143 V153A probably benign Het
Col6a1 A G 10: 76,717,329 probably benign Het
Hmgcll1 T A 9: 76,074,759 M162K possibly damaging Het
Hydin A T 8: 110,494,289 probably null Het
Ift74 A G 4: 94,662,576 probably benign Het
Itpr1 A T 6: 108,381,257 I595F probably damaging Het
Mmp17 T C 5: 129,596,631 V258A probably benign Het
Nek6 T C 2: 38,569,737 probably null Het
Nomo1 A T 7: 46,037,557 probably null Het
Nudt3 A G 17: 27,596,715 probably benign Het
Prkg2 A C 5: 98,969,947 F512V probably damaging Het
Ptp4a3 T A 15: 73,755,311 D72E possibly damaging Het
Rpgrip1l A T 8: 91,299,225 probably benign Het
Rrp9 G A 9: 106,481,177 R101H probably benign Het
Slc7a6os T C 8: 106,204,522 I161V probably benign Het
Tex15 T C 8: 33,570,868 F109L probably benign Het
Tns2 A G 15: 102,114,056 Q1188R probably damaging Het
Other mutations in Dars2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0230:Dars2 UTSW 1 161062787 missense probably benign 0.02
R0537:Dars2 UTSW 1 161060748 missense possibly damaging 0.46
R0709:Dars2 UTSW 1 161046928 missense probably benign 0.00
R1365:Dars2 UTSW 1 161044994 nonsense probably null
R1502:Dars2 UTSW 1 161046805 nonsense probably null
R1625:Dars2 UTSW 1 161054044 missense possibly damaging 0.88
R1934:Dars2 UTSW 1 161063241 splice site probably null
R2239:Dars2 UTSW 1 161063282 missense possibly damaging 0.83
R3721:Dars2 UTSW 1 161063308 missense probably benign 0.03
R4308:Dars2 UTSW 1 161041721 missense probably damaging 0.98
R4786:Dars2 UTSW 1 161060760 missense probably damaging 1.00
R4859:Dars2 UTSW 1 161044990 missense probably damaging 0.99
R4903:Dars2 UTSW 1 161051371 missense probably benign 0.06
R5042:Dars2 UTSW 1 161045094 intron probably benign
R5068:Dars2 UTSW 1 161041913 missense probably benign 0.02
R6257:Dars2 UTSW 1 161041828 missense probably damaging 1.00
R7286:Dars2 UTSW 1 161046808 missense possibly damaging 0.85
R7346:Dars2 UTSW 1 161046772 splice site probably null
R7444:Dars2 UTSW 1 161046884 missense possibly damaging 0.94
R7593:Dars2 UTSW 1 161057543 missense probably damaging 1.00
R7845:Dars2 UTSW 1 161041748 missense probably benign 0.00
X0063:Dars2 UTSW 1 161056493 missense probably benign 0.14
Background

Heterozygous mutations in DARS2 leads to leukoencephalopathy with brainstem and spinal cord involvement and lacatae elevation (LBSL; OMIM #611105; (1;2)).  LPSL patients develop progressive cerebellar ataxia, spasticity, dorsal column dysfunction, and often a mild cognifitive deficit or decline (3).

References
Posted On2012-10-05
Science WriterAnne Murray