Incidental Mutation 'R1625:Dars2'
ID 174939
Institutional Source Beutler Lab
Gene Symbol Dars2
Ensembl Gene ENSMUSG00000026709
Gene Name aspartyl-tRNA synthetase 2 (mitochondrial)
Synonyms 5830468K18Rik
MMRRC Submission 039662-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1625 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 160868171-160898228 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 160881614 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Leucine at position 305 (P305L)
Ref Sequence ENSEMBL: ENSMUSP00000041851 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035430]
AlphaFold Q8BIP0
Predicted Effect possibly damaging
Transcript: ENSMUST00000035430
AA Change: P305L

PolyPhen 2 Score 0.882 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000041851
Gene: ENSMUSG00000026709
AA Change: P305L

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
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.3%
  • 20x: 89.1%
Validation Efficiency
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b T A 11: 109,857,947 (GRCm39) M605L probably benign Het
Abcc5 A T 16: 20,184,567 (GRCm39) S1031T probably damaging Het
Acot7 T A 4: 152,270,748 (GRCm39) C31S probably benign Het
Acss3 A T 10: 106,773,263 (GRCm39) probably null Het
Adipor1 T C 1: 134,351,802 (GRCm39) F83S possibly damaging Het
Agrn G A 4: 156,257,317 (GRCm39) S1171L probably damaging Het
Aoc1l1 T A 6: 48,952,105 (GRCm39) L10Q probably damaging Het
Arhgap5 T A 12: 52,564,159 (GRCm39) C377S probably benign Het
Arid4b T A 13: 14,361,699 (GRCm39) V721D probably damaging Het
Aspm G A 1: 139,408,777 (GRCm39) A2555T probably benign Het
Atp6v0a1 T A 11: 100,946,380 (GRCm39) L791Q probably damaging Het
Car11 A G 7: 45,350,731 (GRCm39) K76E probably benign Het
Casp8ap2 T A 4: 32,648,068 (GRCm39) M1925K probably benign Het
Cc2d1a A T 8: 84,866,001 (GRCm39) L418Q probably damaging Het
Ccl9 G A 11: 83,466,736 (GRCm39) R64W probably damaging Het
Cfap20dc A G 14: 8,431,668 (GRCm38) Y655H probably damaging Het
Cfap43 T A 19: 47,739,527 (GRCm39) K1325N probably damaging Het
Ddx11 C T 17: 66,457,692 (GRCm39) T859I probably benign Het
Dock7 C T 4: 98,850,433 (GRCm39) probably null Het
Efcab6 A G 15: 83,831,839 (GRCm39) V570A probably benign Het
Fermt1 T A 2: 132,764,751 (GRCm39) I369F probably damaging Het
Fras1 A G 5: 96,861,849 (GRCm39) Y2161C probably damaging Het
Fras1 C A 5: 96,857,837 (GRCm39) P2044T possibly damaging Het
Gucy1a1 T C 3: 82,009,362 (GRCm39) I549V probably benign Het
Hspg2 G A 4: 137,246,282 (GRCm39) S1020N probably benign Het
Kif21a A G 15: 90,826,378 (GRCm39) S1360P probably damaging Het
Lrp3 T C 7: 34,903,350 (GRCm39) Y332C probably damaging Het
Ltc4s C A 11: 50,128,215 (GRCm39) A32S possibly damaging Het
Mgrn1 T C 16: 4,728,627 (GRCm39) L84P probably damaging Het
Muc2 C G 7: 141,283,405 (GRCm39) C672W probably damaging Het
Mvp A T 7: 126,600,845 (GRCm39) V52E probably damaging Het
Ndrg2 T C 14: 52,144,420 (GRCm39) T269A probably damaging Het
Notch2 T A 3: 98,018,891 (GRCm39) D684E probably damaging Het
Nup205 A G 6: 35,168,878 (GRCm39) D316G probably benign Het
Or12e7 T A 2: 87,288,016 (GRCm39) I169K probably damaging Het
Or2v2 T C 11: 49,004,071 (GRCm39) M161V probably benign Het
Or7d11 A G 9: 19,966,678 (GRCm39) L27P probably damaging Het
Pcsk1 A T 13: 75,274,971 (GRCm39) D520V probably benign Het
Pik3cg A T 12: 32,244,741 (GRCm39) D904E probably damaging Het
Pitpnm2 T A 5: 124,271,496 (GRCm39) D359V probably benign Het
Ppih T C 4: 119,175,779 (GRCm39) I69V probably damaging Het
Rab11fip3 T C 17: 26,287,865 (GRCm39) E96G possibly damaging Het
Retreg3 C A 11: 100,992,875 (GRCm39) M1I probably null Het
Rfpl4 C T 7: 5,118,409 (GRCm39) V54I possibly damaging Het
Rif1 T C 2: 51,993,652 (GRCm39) I855T probably benign Het
Rrm1 T A 7: 102,117,554 (GRCm39) I748N probably damaging Het
Sap130 T A 18: 31,807,517 (GRCm39) N441K probably damaging Het
Sf3b1 T A 1: 55,058,536 (GRCm39) I18F probably damaging Het
Skor2 A G 18: 76,946,499 (GRCm39) N74D unknown Het
Slc17a6 C A 7: 51,311,208 (GRCm39) F307L probably benign Het
Slc25a13 G A 6: 6,096,675 (GRCm39) L410F probably damaging Het
Slc47a1 A T 11: 61,262,625 (GRCm39) V38E probably damaging Het
Slc8a1 T A 17: 81,956,670 (GRCm39) T123S probably damaging Het
Slc9a5 C A 8: 106,094,755 (GRCm39) T782K possibly damaging Het
Spmip7 C A 11: 11,438,644 (GRCm39) probably benign Het
Sppl2c C A 11: 104,077,995 (GRCm39) T265K probably damaging Het
Srfbp1 A G 18: 52,621,788 (GRCm39) K283R probably benign Het
Ssr1 C T 13: 38,173,479 (GRCm39) probably null Het
Stard3nl T C 13: 19,556,754 (GRCm39) probably null Het
Timeless G T 10: 128,076,493 (GRCm39) S134I probably damaging Het
Tll1 A G 8: 64,494,476 (GRCm39) F760L probably damaging Het
Tspear A G 10: 77,706,333 (GRCm39) I368V probably benign Het
Txnrd2 G T 16: 18,257,116 (GRCm39) W144L probably damaging Het
Unc5d T C 8: 29,173,234 (GRCm39) E668G probably damaging Het
Urb1 C T 16: 90,570,936 (GRCm39) probably null Het
Uts2r A G 11: 121,052,033 (GRCm39) Y299C probably damaging Het
Vmn1r66 G T 7: 10,008,316 (GRCm39) T239K probably benign Het
Vps39 C T 2: 120,154,106 (GRCm39) V630M probably damaging Het
Wrn T C 8: 33,819,158 (GRCm39) T22A probably benign Het
Zfp7 T A 15: 76,765,374 (GRCm39) D22E probably damaging 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
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
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'- TGCTGTAGTCTGGAAACAACCAAGG -3'
(R):5'- GGCAATAGCAGTCATCGACATAAAAGC -3'

Sequencing Primer
(F):5'- TTATTCGACCAGTATGTAACACTTG -3'
(R):5'- ATCCTTAGCCATGTATTGTTTCTGG -3'
Posted On 2014-04-24