Incidental Mutation 'R4308:Dars2'
ID 324082
Institutional Source Beutler Lab
Gene Symbol Dars2
Ensembl Gene ENSMUSG00000026709
Gene Name aspartyl-tRNA synthetase 2 (mitochondrial)
Synonyms 5830468K18Rik
MMRRC Submission 041659-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4308 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 160868171-160898228 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 160869291 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 653 (S653P)
Ref Sequence ENSEMBL: ENSMUSP00000041851 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035430]
AlphaFold Q8BIP0
Predicted Effect probably damaging
Transcript: ENSMUST00000035430
AA Change: S653P

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000041851
Gene: ENSMUSG00000026709
AA Change: S653P

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: ENSMUST00000083034
Predicted Effect noncoding transcript
Transcript: ENSMUST00000083226
Predicted Effect noncoding transcript
Transcript: ENSMUST00000083294
Predicted Effect noncoding transcript
Transcript: ENSMUST00000083801
Predicted Effect noncoding transcript
Transcript: ENSMUST00000104032
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159037
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159157
Predicted Effect noncoding transcript
Transcript: ENSMUST00000122718
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159399
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159663
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159890
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159119
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159153
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160152
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159404
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159438
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159706
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161748
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162654
Predicted Effect noncoding transcript
Transcript: ENSMUST00000163081
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161005
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199023
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195700
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160591
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160759
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162558
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161380
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162163
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160551
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161623
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162289
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160497
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160516
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161229
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161461
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160429
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency 98% (47/48)
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 G A 13: 81,588,311 (GRCm39) T4425M probably damaging Het
Arhgef5 C T 6: 43,256,432 (GRCm39) A1180V probably damaging Het
Asap2 T C 12: 21,279,482 (GRCm39) I426T probably damaging Het
Ascc1 T G 10: 59,849,434 (GRCm39) H108Q probably benign Het
Bod1l A T 5: 41,949,156 (GRCm39) S2989T possibly damaging Het
Cfap157 G A 2: 32,669,054 (GRCm39) R350W probably damaging Het
Cyp39a1 T A 17: 44,041,855 (GRCm39) probably null Het
Fancm A T 12: 65,173,305 (GRCm39) K1872N probably benign Het
Fktn C T 4: 53,724,617 (GRCm39) probably benign Het
Gpr33 A T 12: 52,070,423 (GRCm39) C205* probably null Het
Gsdmc2 A G 15: 63,720,554 (GRCm39) probably benign Het
Il31 A G 5: 123,618,769 (GRCm39) S6P probably damaging Het
Iqca1 T C 1: 90,072,619 (GRCm39) K87R probably damaging Het
Kif15 T G 9: 122,843,047 (GRCm39) H47Q probably benign Het
L3mbtl3 C T 10: 26,158,690 (GRCm39) A653T unknown Het
Lamb1 T C 12: 31,379,254 (GRCm39) L1737P probably damaging Het
Map2k5 C G 9: 63,142,586 (GRCm39) R353S probably benign Het
Mical2 C A 7: 111,931,199 (GRCm39) L721I probably benign Het
Myo1b T C 1: 51,922,268 (GRCm39) K37E probably benign Het
Myo5b A G 18: 74,864,811 (GRCm39) D1369G possibly damaging Het
Npc1 C T 18: 12,343,584 (GRCm39) A470T possibly damaging Het
Obi1 T A 14: 104,717,029 (GRCm39) N448I probably damaging Het
Or12e13 T C 2: 87,663,614 (GRCm39) I77T probably damaging Het
Or14j10 C T 17: 37,934,627 (GRCm39) V300I possibly damaging Het
Pcdhb1 A T 18: 37,399,714 (GRCm39) D555V probably benign Het
Prr27 A G 5: 87,990,766 (GRCm39) H126R probably benign Het
Rbm20 A G 19: 53,831,691 (GRCm39) S642G probably damaging Het
Rnf144b A G 13: 47,396,418 (GRCm39) N252D probably damaging Het
Rwdd2b A T 16: 87,233,615 (GRCm39) W162R probably damaging Het
Scaf11 A G 15: 96,344,396 (GRCm39) M19T probably benign Het
Sft2d2 A G 1: 165,015,833 (GRCm39) I45T probably benign Het
Skint5 A T 4: 113,341,164 (GRCm39) H1371Q unknown Het
Tas2r124 A G 6: 132,731,954 (GRCm39) I88V probably benign Het
Tasor2 A C 13: 3,619,498 (GRCm39) S2244R probably damaging Het
Ubr4 T C 4: 139,199,820 (GRCm39) V4568A possibly damaging Het
Vmn2r12 A G 5: 109,233,872 (GRCm39) L780P probably damaging Het
Vmn2r18 A T 5: 151,508,268 (GRCm39) Y285* probably null Het
Wnk2 C T 13: 49,244,313 (GRCm39) D508N probably damaging Het
Zfp983 A G 17: 21,881,124 (GRCm39) I351V probably benign Het
Other mutations in Dars2
AlleleSourceChrCoordTypePredicted EffectPPH Score
P0005:Dars2 UTSW 1 160,881,509 (GRCm39) critical splice donor site probably null
R0230:Dars2 UTSW 1 160,890,357 (GRCm39) missense probably benign 0.02
R0537:Dars2 UTSW 1 160,888,318 (GRCm39) missense possibly damaging 0.46
R0709:Dars2 UTSW 1 160,874,498 (GRCm39) missense probably benign 0.00
R1365:Dars2 UTSW 1 160,872,564 (GRCm39) nonsense probably null
R1502:Dars2 UTSW 1 160,874,375 (GRCm39) nonsense probably null
R1625:Dars2 UTSW 1 160,881,614 (GRCm39) missense possibly damaging 0.88
R1934:Dars2 UTSW 1 160,890,811 (GRCm39) splice site probably null
R2239:Dars2 UTSW 1 160,890,852 (GRCm39) missense possibly damaging 0.83
R3721:Dars2 UTSW 1 160,890,878 (GRCm39) missense probably benign 0.03
R4786:Dars2 UTSW 1 160,888,330 (GRCm39) missense probably damaging 1.00
R4859:Dars2 UTSW 1 160,872,560 (GRCm39) missense probably damaging 0.99
R4903:Dars2 UTSW 1 160,878,941 (GRCm39) missense probably benign 0.06
R5042:Dars2 UTSW 1 160,872,664 (GRCm39) intron probably benign
R5068:Dars2 UTSW 1 160,869,483 (GRCm39) missense probably benign 0.02
R6257:Dars2 UTSW 1 160,869,398 (GRCm39) missense probably damaging 1.00
R7286:Dars2 UTSW 1 160,874,378 (GRCm39) missense possibly damaging 0.85
R7346:Dars2 UTSW 1 160,874,342 (GRCm39) splice site probably null
R7444:Dars2 UTSW 1 160,874,454 (GRCm39) missense possibly damaging 0.94
R7593:Dars2 UTSW 1 160,885,113 (GRCm39) missense probably damaging 1.00
R7845:Dars2 UTSW 1 160,869,318 (GRCm39) missense probably benign 0.00
R8707:Dars2 UTSW 1 160,884,081 (GRCm39) missense probably damaging 1.00
R8916:Dars2 UTSW 1 160,881,552 (GRCm39) missense probably benign 0.20
R9237:Dars2 UTSW 1 160,873,025 (GRCm39) missense probably damaging 1.00
R9277:Dars2 UTSW 1 160,877,527 (GRCm39) missense probably benign 0.07
X0063:Dars2 UTSW 1 160,884,063 (GRCm39) missense probably benign 0.14
Predicted Primers PCR Primer
(F):5'- TGCTTGGAAAACAGGAAGACTC -3'
(R):5'- AGCATCAGAGATGTCATAGCC -3'

Sequencing Primer
(F):5'- GGAAAACAGGAAGACTCTAAATACTC -3'
(R):5'- GAGATGTCATAGCCTTCCCTAAATC -3'
Posted On 2015-06-24