Incidental Mutation 'IGL02320:Vars2'
ID 288184
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Vars2
Ensembl Gene ENSMUSG00000038838
Gene Name valyl-tRNA synthetase 2, mitochondrial
Synonyms Vars2l, 1190004I24Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02320
Quality Score
Status
Chromosome 17
Chromosomal Location 35966526-35978484 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 35971346 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 212 (V212A)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043674] [ENSMUST00000169093]
AlphaFold Q3U2A8
Predicted Effect probably benign
Transcript: ENSMUST00000043674
AA Change: V563A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000047917
Gene: ENSMUSG00000038838
AA Change: V563A

DomainStartEndE-ValueType
Pfam:tRNA-synt_1 112 736 3.3e-179 PFAM
Pfam:tRNA-synt_1g 141 221 2e-8 PFAM
Pfam:Anticodon_1 780 932 3.6e-32 PFAM
low complexity region 1005 1015 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000164295
Predicted Effect probably benign
Transcript: ENSMUST00000164404
AA Change: V182A

PolyPhen 2 Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000126084
Gene: ENSMUSG00000038838
AA Change: V182A

DomainStartEndE-ValueType
Pfam:tRNA-synt_1 1 201 1e-49 PFAM
Pfam:tRNA-synt_1g 68 172 4e-7 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000164978
Predicted Effect noncoding transcript
Transcript: ENSMUST00000165787
Predicted Effect noncoding transcript
Transcript: ENSMUST00000168885
Predicted Effect probably benign
Transcript: ENSMUST00000168922
AA Change: V212A

PolyPhen 2 Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000129196
Gene: ENSMUSG00000038838
AA Change: V212A

DomainStartEndE-ValueType
Pfam:tRNA-synt_1 2 386 3e-105 PFAM
Pfam:Anticodon_1 430 566 8.2e-29 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000170701
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174129
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173162
Predicted Effect probably benign
Transcript: ENSMUST00000169093
SMART Domains Protein: ENSMUSP00000126794
Gene: ENSMUSG00000038838

DomainStartEndE-ValueType
Pfam:tRNA-synt_1 1 109 1.7e-29 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a mitochondrial aminoacyl-tRNA synthetase, which catalyzes the attachment of valine to tRNA(Val) for mitochondrial translation. Mutations in this gene cause combined oxidative phosphorylation deficiency-20, and are also associated with early-onset mitochondrial encephalopathies. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Aug 2014]
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb1 T C 15: 74,445,961 (GRCm39) S146P probably damaging Het
Ap1m2 A T 9: 21,210,620 (GRCm39) Y336* probably null Het
Arap1 T C 7: 101,034,236 (GRCm39) L226P probably benign Het
Cacna1c T A 6: 118,614,753 (GRCm39) N1150Y probably damaging Het
Ccsap G T 8: 124,569,177 (GRCm39) H221Q probably damaging Het
Ceacam3 T A 7: 16,895,865 (GRCm39) Y612N probably benign Het
Col12a1 A G 9: 79,523,303 (GRCm39) probably null Het
Ddx23 T C 15: 98,548,819 (GRCm39) T328A possibly damaging Het
Depdc1a T A 3: 159,222,570 (GRCm39) M252K probably damaging Het
Fpr2 A C 17: 18,113,608 (GRCm39) R201S probably benign Het
Ighv1-20 A G 12: 114,687,463 (GRCm39) S94P probably damaging Het
Itgb7 A C 15: 102,132,772 (GRCm39) V180G probably benign Het
Mmp13 G T 9: 7,278,941 (GRCm39) R344L probably benign Het
Mucl3 A T 17: 35,948,332 (GRCm39) N422K probably benign Het
Ncam2 C T 16: 81,231,725 (GRCm39) S63L probably damaging Het
Or5p52 C T 7: 107,502,038 (GRCm39) T38I possibly damaging Het
Pde9a G A 17: 31,678,059 (GRCm39) C187Y probably damaging Het
Sh2b1 A G 7: 126,068,341 (GRCm39) L490P probably benign Het
Shank2 A G 7: 143,974,681 (GRCm39) T1193A probably damaging Het
Shisa2 T A 14: 59,867,246 (GRCm39) M166K probably damaging Het
Smg7 A T 1: 152,744,088 (GRCm39) S40T possibly damaging Het
Spef2 A C 15: 9,717,662 (GRCm39) S285A probably damaging Het
Tlcd3a A G 11: 76,096,231 (GRCm39) M120V probably damaging Het
Trgv7 C A 13: 19,362,249 (GRCm39) P13Q unknown Het
Ttn A G 2: 76,769,656 (GRCm39) probably benign Het
Tyw5 A G 1: 57,435,884 (GRCm39) probably null Het
Vmn2r1 T C 3: 63,989,180 (GRCm39) S40P possibly damaging Het
Wwc2 A G 8: 48,316,882 (GRCm39) probably null Het
Zbed6 T C 1: 133,585,411 (GRCm39) N642S probably damaging Het
Zfp423 A T 8: 88,508,230 (GRCm39) C580S probably damaging Het
Zfp64 A G 2: 168,768,118 (GRCm39) V498A probably damaging Het
Other mutations in Vars2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02106:Vars2 APN 17 35,975,513 (GRCm39) unclassified probably benign
IGL02580:Vars2 APN 17 35,971,777 (GRCm39) missense possibly damaging 0.50
IGL02691:Vars2 APN 17 35,971,140 (GRCm39) missense probably damaging 1.00
IGL03039:Vars2 APN 17 35,975,013 (GRCm39) missense probably damaging 1.00
PIT4445001:Vars2 UTSW 17 35,977,103 (GRCm39) nonsense probably null
R0079:Vars2 UTSW 17 35,970,048 (GRCm39) missense probably damaging 0.99
R0152:Vars2 UTSW 17 35,970,919 (GRCm39) missense probably damaging 1.00
R0346:Vars2 UTSW 17 35,975,756 (GRCm39) unclassified probably benign
R0426:Vars2 UTSW 17 35,975,476 (GRCm39) missense probably damaging 1.00
R0584:Vars2 UTSW 17 35,977,578 (GRCm39) missense possibly damaging 0.82
R0589:Vars2 UTSW 17 35,970,068 (GRCm39) missense probably benign
R0882:Vars2 UTSW 17 35,968,191 (GRCm39) missense probably benign 0.41
R1234:Vars2 UTSW 17 35,978,038 (GRCm39) missense probably damaging 1.00
R1263:Vars2 UTSW 17 35,972,501 (GRCm39) missense probably damaging 1.00
R1559:Vars2 UTSW 17 35,977,150 (GRCm39) unclassified probably benign
R1772:Vars2 UTSW 17 35,970,976 (GRCm39) missense probably damaging 1.00
R1809:Vars2 UTSW 17 35,973,108 (GRCm39) missense probably damaging 1.00
R1913:Vars2 UTSW 17 35,977,814 (GRCm39) missense probably benign 0.02
R1986:Vars2 UTSW 17 35,970,953 (GRCm39) missense probably damaging 1.00
R2504:Vars2 UTSW 17 35,975,685 (GRCm39) missense probably damaging 1.00
R3426:Vars2 UTSW 17 35,972,866 (GRCm39) missense probably damaging 1.00
R4539:Vars2 UTSW 17 35,977,780 (GRCm39) missense probably damaging 0.99
R4751:Vars2 UTSW 17 35,970,235 (GRCm39) missense possibly damaging 0.89
R4861:Vars2 UTSW 17 35,972,825 (GRCm39) missense probably benign 0.00
R4861:Vars2 UTSW 17 35,972,825 (GRCm39) missense probably benign 0.00
R5028:Vars2 UTSW 17 35,970,365 (GRCm39) critical splice donor site probably null
R5217:Vars2 UTSW 17 35,969,041 (GRCm39) missense probably damaging 1.00
R5292:Vars2 UTSW 17 35,971,678 (GRCm39) missense probably damaging 1.00
R6056:Vars2 UTSW 17 35,976,680 (GRCm39) missense probably benign 0.01
R6211:Vars2 UTSW 17 35,976,554 (GRCm39) splice site probably null
R6213:Vars2 UTSW 17 35,971,332 (GRCm39) missense probably benign 0.27
R6374:Vars2 UTSW 17 35,970,937 (GRCm39) missense probably damaging 1.00
R6746:Vars2 UTSW 17 35,971,294 (GRCm39) critical splice donor site probably null
R6749:Vars2 UTSW 17 35,977,605 (GRCm39) missense probably damaging 1.00
R6957:Vars2 UTSW 17 35,977,967 (GRCm39) missense probably benign 0.39
R7107:Vars2 UTSW 17 35,969,142 (GRCm39) missense probably damaging 1.00
R7428:Vars2 UTSW 17 35,977,578 (GRCm39) missense probably benign 0.00
R7538:Vars2 UTSW 17 35,971,672 (GRCm39) missense probably damaging 1.00
R7553:Vars2 UTSW 17 35,975,680 (GRCm39) missense possibly damaging 0.93
R7741:Vars2 UTSW 17 35,971,835 (GRCm39) missense probably damaging 1.00
R7784:Vars2 UTSW 17 35,969,050 (GRCm39) missense possibly damaging 0.95
R7823:Vars2 UTSW 17 35,970,028 (GRCm39) missense probably damaging 1.00
R7915:Vars2 UTSW 17 35,975,731 (GRCm39) missense probably damaging 1.00
R8201:Vars2 UTSW 17 35,969,202 (GRCm39) missense probably benign
R8955:Vars2 UTSW 17 35,972,541 (GRCm39) missense probably damaging 1.00
R8964:Vars2 UTSW 17 35,970,699 (GRCm39) missense possibly damaging 0.46
R9101:Vars2 UTSW 17 35,969,980 (GRCm39) missense possibly damaging 0.51
R9202:Vars2 UTSW 17 35,977,551 (GRCm39) missense probably damaging 1.00
R9202:Vars2 UTSW 17 35,974,444 (GRCm39) critical splice acceptor site probably null
R9450:Vars2 UTSW 17 35,973,027 (GRCm39) missense probably damaging 0.98
X0021:Vars2 UTSW 17 35,969,926 (GRCm39) missense possibly damaging 0.93
Z1176:Vars2 UTSW 17 35,975,683 (GRCm39) missense possibly damaging 0.55
Z1177:Vars2 UTSW 17 35,974,364 (GRCm39) missense probably benign 0.17
Posted On 2015-04-16