Incidental Mutation 'R7845:Dars2'
ID 606543
Institutional Source Beutler Lab
Gene Symbol Dars2
Ensembl Gene ENSMUSG00000026709
Gene Name aspartyl-tRNA synthetase 2 (mitochondrial)
Synonyms 5830468K18Rik
MMRRC Submission 045899-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7845 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 160868171-160898228 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 160869318 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 644 (S644T)
Ref Sequence ENSEMBL: ENSMUSP00000041851 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035430]
AlphaFold Q8BIP0
Predicted Effect probably benign
Transcript: ENSMUST00000035430
AA Change: S644T

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000041851
Gene: ENSMUSG00000026709
AA Change: S644T

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 96% (43/45)
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921509C19Rik T C 2: 151,314,229 (GRCm39) H483R probably damaging Het
Acot2 G T 12: 84,039,762 (GRCm39) G424* probably null Het
Adat2 G T 10: 13,428,741 (GRCm39) probably benign Het
Arhgef18 T C 8: 3,436,959 (GRCm39) Y250H probably damaging Het
Bcl2l2 A G 14: 55,122,308 (GRCm39) Y157C unknown Het
Bglap2 T A 3: 88,286,001 (GRCm39) probably benign Het
Ccdc14 T C 16: 34,535,734 (GRCm39) L495P probably damaging Het
Cobl T C 11: 12,315,139 (GRCm39) D275G probably benign Het
Cpne2 A G 8: 95,277,832 (GRCm39) N72S probably benign Het
D7Ertd443e A G 7: 133,871,977 (GRCm39) F628S probably damaging Het
Depdc5 A G 5: 33,061,259 (GRCm39) probably null Het
Dip2c A G 13: 9,659,080 (GRCm39) S860G probably damaging Het
Dnajc21 T G 15: 10,447,227 (GRCm39) H507P probably damaging Het
Eif2ak2 G T 17: 79,171,327 (GRCm39) Q359K probably damaging Het
Epha8 T C 4: 136,663,712 (GRCm39) E448G probably benign Het
Exoc3l G C 8: 106,016,782 (GRCm39) S677R probably damaging Het
Fads1 T A 19: 10,171,405 (GRCm39) H345Q probably damaging Het
Fam118a T A 15: 84,930,052 (GRCm39) D93E possibly damaging Het
Fam135a T C 1: 24,068,738 (GRCm39) I710M probably benign Het
Fbxw14 T A 9: 109,116,671 (GRCm39) I13F probably damaging Het
Gemin6 A G 17: 80,533,090 (GRCm39) S8G probably benign Het
Ints2 A T 11: 86,129,089 (GRCm39) M498K possibly damaging Het
Man2a2 G C 7: 80,018,613 (GRCm39) A82G probably benign Het
Mast1 C A 8: 85,651,954 (GRCm39) E343* probably null Het
Micu1 T C 10: 59,675,607 (GRCm39) probably null Het
Mis18bp1 A G 12: 65,196,102 (GRCm39) I554T probably benign Het
Mrps28 T A 3: 8,988,775 (GRCm39) N28Y possibly damaging Het
Mtpap T A 18: 4,387,134 (GRCm39) S395T possibly damaging Het
Muc16 A T 9: 18,552,069 (GRCm39) H4741Q probably benign Het
Ogfr GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG 2: 180,237,059 (GRCm39) probably benign Het
Or13p8 T C 4: 118,584,158 (GRCm39) M238T probably benign Het
Or4k44 C A 2: 111,368,512 (GRCm39) G41* probably null Het
Or51f23 G A 7: 102,453,492 (GRCm39) R269Q not run Het
Ptx4 T C 17: 25,343,928 (GRCm39) Y393H possibly damaging Het
Ranbp2 G A 10: 58,282,844 (GRCm39) V15M probably damaging Het
Rbp3 G T 14: 33,678,421 (GRCm39) A790S probably benign Het
Rfx6 T A 10: 51,554,122 (GRCm39) S73T probably benign Het
Sec14l3 T A 11: 4,017,972 (GRCm39) M84K probably benign Het
Sec23b T A 2: 144,401,316 (GRCm39) V59E possibly damaging Het
Slc2a1 T C 4: 118,993,125 (GRCm39) V425A possibly damaging Het
Stab2 A T 10: 86,832,758 (GRCm39) V89D probably benign Het
Stra8 A G 6: 34,907,899 (GRCm39) D117G probably benign Het
Syt17 A T 7: 118,009,194 (GRCm39) I338N possibly damaging Het
Tas2r136 T A 6: 132,754,833 (GRCm39) Y98F probably benign Het
Tsks C A 7: 44,603,168 (GRCm39) probably null Het
Wdr62 A G 7: 29,964,667 (GRCm39) V359A possibly damaging Het
Xrcc6 T C 15: 81,900,678 (GRCm39) probably null 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
R4308:Dars2 UTSW 1 160,869,291 (GRCm39) missense probably damaging 0.98
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
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'- AGACTGGTATGTCTTGTCACG -3'

Sequencing Primer
(F):5'- TTCCACAGACAGTCCTAATGG -3'
(R):5'- TATGTCTTGTCACGGGAGCACC -3'
Posted On 2019-12-20