Incidental Mutation 'IGL01326:Mtarc2'
ID 74294
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mtarc2
Ensembl Gene ENSMUSG00000073481
Gene Name mitochondrial amidoxime reducing component 2
Synonyms Marc2, Mosc2, 2810484M10Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.068) question?
Stock # IGL01326
Quality Score
Status
Chromosome 1
Chromosomal Location 184545265-184578648 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 184566048 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000125374 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068725] [ENSMUST00000161821]
AlphaFold Q922Q1
Predicted Effect probably benign
Transcript: ENSMUST00000068725
SMART Domains Protein: ENSMUSP00000066715
Gene: ENSMUSG00000073481

DomainStartEndE-ValueType
transmembrane domain 20 39 N/A INTRINSIC
low complexity region 41 49 N/A INTRINSIC
Pfam:MOSC_N 54 175 4.6e-41 PFAM
Pfam:MOSC 200 334 1.9e-29 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159293
SMART Domains Protein: ENSMUSP00000124809
Gene: ENSMUSG00000073481

DomainStartEndE-ValueType
transmembrane domain 15 37 N/A INTRINSIC
low complexity region 38 46 N/A INTRINSIC
Pfam:MOSC_N 51 172 1.8e-41 PFAM
Pfam:MOSC 184 256 2.5e-19 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160982
Predicted Effect probably benign
Transcript: ENSMUST00000161821
SMART Domains Protein: ENSMUSP00000125374
Gene: ENSMUSG00000073481

DomainStartEndE-ValueType
Pfam:MOSC_N 1 82 9e-24 PFAM
Pfam:MOSC 94 190 2.4e-32 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162501
SMART Domains Protein: ENSMUSP00000125039
Gene: ENSMUSG00000073481

DomainStartEndE-ValueType
Pfam:MOSC_N 1 93 5.9e-29 PFAM
Pfam:MOSC 105 173 1.4e-19 PFAM
Coding Region Coverage
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 is an enzyme found in the outer mitochondrial membrane that reduces N-hydroxylated substrates. The encoded protein uses molybdenum as a cofactor and cytochrome b5 type B and NADH cytochrome b5 reductase as accessory proteins. One type of substrate used is N-hydroxylated nucleotide base analogues, which can be toxic to a cell. Other substrates include N(omega)-hydroxy-L-arginine (NOHA) and amidoxime prodrugs, which are activated by the encoded enzyme. Multiple transcript variants encoding the different isoforms have been found for this gene. [provided by RefSeq, Sep 2016]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adh1 G A 3: 137,992,672 (GRCm39) V263M probably damaging Het
Akap13 T A 7: 75,375,096 (GRCm39) H1909Q probably benign Het
Atg2b C T 12: 105,588,403 (GRCm39) A1936T probably damaging Het
Atp8b3 G T 10: 80,360,210 (GRCm39) L954M probably damaging Het
C8a T C 4: 104,713,617 (GRCm39) Y171C probably damaging Het
Cd6 A G 19: 10,768,466 (GRCm39) S508P probably benign Het
Cdk4 A G 10: 126,900,492 (GRCm39) D86G possibly damaging Het
Cdr2l G T 11: 115,281,796 (GRCm39) R100S probably benign Het
Cndp1 T A 18: 84,640,357 (GRCm39) T283S probably benign Het
Cr2 T C 1: 194,823,529 (GRCm39) Y1023C probably null Het
Csmd3 A G 15: 47,713,181 (GRCm39) F1494L probably benign Het
Eeig2 A G 3: 108,887,101 (GRCm39) V299A possibly damaging Het
Eng G T 2: 32,562,394 (GRCm39) G231W probably benign Het
Erp44 A G 4: 48,218,126 (GRCm39) V181A probably benign Het
Fkbp15 A G 4: 62,241,487 (GRCm39) S553P probably damaging Het
Glg1 A G 8: 111,909,205 (GRCm39) V495A probably damaging Het
Gm9631 A T 11: 121,836,454 (GRCm39) D28E possibly damaging Het
Gnptab G T 10: 88,268,927 (GRCm39) L543F probably damaging Het
H4c3 A T 13: 23,882,353 (GRCm39) I27N probably damaging Het
Khdrbs2 T G 1: 32,696,558 (GRCm39) L329R possibly damaging Het
Kidins220 C A 12: 25,088,498 (GRCm39) H1080Q probably damaging Het
Maml1 G A 11: 50,156,715 (GRCm39) P487S probably benign Het
Me1 C T 9: 86,480,771 (GRCm39) probably null Het
Morc2a C T 11: 3,631,775 (GRCm39) R569C probably benign Het
Mrc1 A G 2: 14,271,335 (GRCm39) Q413R probably damaging Het
Mrgprx1 A T 7: 47,671,517 (GRCm39) C77S probably benign Het
Myo1d A T 11: 80,575,147 (GRCm39) probably benign Het
Nr4a1 T G 15: 101,171,940 (GRCm39) L538R probably damaging Het
Olfm1 T C 2: 28,119,564 (GRCm39) Y385H probably damaging Het
Or4a39 A T 2: 89,236,675 (GRCm39) F249L possibly damaging Het
Or5m9 A G 2: 85,877,627 (GRCm39) E267G probably damaging Het
Pkd1 T A 17: 24,795,148 (GRCm39) Y2278* probably null Het
Plcg2 T C 8: 118,300,738 (GRCm39) probably benign Het
Prkdc G T 16: 15,647,556 (GRCm39) C3660F probably benign Het
Ptpn11 T C 5: 121,281,199 (GRCm39) D493G probably damaging Het
Rad23b T A 4: 55,383,601 (GRCm39) F278I possibly damaging Het
Saxo2 T C 7: 82,297,613 (GRCm39) I9V probably benign Het
Scn7a T C 2: 66,582,604 (GRCm39) I98V probably benign Het
Serac1 T A 17: 6,124,528 (GRCm39) probably benign Het
Simc1 T C 13: 54,672,473 (GRCm39) C274R probably benign Het
Sirt3 A G 7: 140,444,006 (GRCm39) probably benign Het
Tctn3 A G 19: 40,585,880 (GRCm39) L555P probably damaging Het
Ttc14 A G 3: 33,855,507 (GRCm39) I151V probably benign Het
Ush2a T A 1: 187,995,518 (GRCm39) Y96* probably null Het
Usp42 T C 5: 143,706,970 (GRCm39) T270A possibly damaging Het
Vmn1r31 A G 6: 58,449,784 (GRCm39) I27T probably benign Het
Vmn2r93 G A 17: 18,536,906 (GRCm39) A530T possibly damaging Het
Other mutations in Mtarc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01010:Mtarc2 APN 1 184,551,513 (GRCm39) missense probably benign 0.00
IGL01386:Mtarc2 APN 1 184,551,413 (GRCm39) unclassified probably benign
IGL01636:Mtarc2 APN 1 184,564,838 (GRCm39) missense probably benign 0.25
LCD18:Mtarc2 UTSW 1 184,554,985 (GRCm39) intron probably benign
R0594:Mtarc2 UTSW 1 184,573,536 (GRCm39) missense probably benign 0.00
R1340:Mtarc2 UTSW 1 184,554,744 (GRCm39) missense probably benign 0.05
R3797:Mtarc2 UTSW 1 184,573,505 (GRCm39) missense possibly damaging 0.79
R4899:Mtarc2 UTSW 1 184,577,821 (GRCm39) missense probably damaging 1.00
R4960:Mtarc2 UTSW 1 184,566,116 (GRCm39) missense probably benign 0.00
R5734:Mtarc2 UTSW 1 184,564,786 (GRCm39) missense probably benign 0.01
R6266:Mtarc2 UTSW 1 184,566,140 (GRCm39) missense probably damaging 1.00
R6331:Mtarc2 UTSW 1 184,551,525 (GRCm39) missense probably damaging 0.98
R6550:Mtarc2 UTSW 1 184,551,539 (GRCm39) missense probably damaging 1.00
R6986:Mtarc2 UTSW 1 184,573,460 (GRCm39) missense probably benign
R7569:Mtarc2 UTSW 1 184,573,622 (GRCm39) missense possibly damaging 0.66
R7610:Mtarc2 UTSW 1 184,551,483 (GRCm39) missense probably benign 0.11
R8152:Mtarc2 UTSW 1 184,573,509 (GRCm39) missense possibly damaging 0.90
R8363:Mtarc2 UTSW 1 184,566,055 (GRCm39) critical splice donor site probably null
R9101:Mtarc2 UTSW 1 184,554,687 (GRCm39) missense probably null 1.00
Posted On 2013-10-07