Incidental Mutation 'IGL01010:Mtarc2'
ID 53386
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 # IGL01010
Quality Score
Status
Chromosome 1
Chromosomal Location 184545265-184578648 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 184551513 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Leucine at position 308 (I308L)
Ref Sequence ENSEMBL: ENSMUSP00000066715 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068725] [ENSMUST00000161821]
AlphaFold Q922Q1
Predicted Effect probably benign
Transcript: ENSMUST00000068725
AA Change: I308L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000066715
Gene: ENSMUSG00000073481
AA Change: I308L

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: ENSMUST00000157934
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: ENSMUST00000160318
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161341
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161359
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162261
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162866
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
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: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700030K09Rik C A 8: 73,199,059 (GRCm39) S155R probably damaging Het
Acss3 G T 10: 106,859,710 (GRCm39) probably benign Het
Ano4 G A 10: 88,796,462 (GRCm39) T680I probably benign Het
Drosha C T 15: 12,827,375 (GRCm39) probably benign Het
Ehd3 A G 17: 74,134,484 (GRCm39) D281G probably damaging Het
Exoc5 A G 14: 49,275,212 (GRCm39) L196P probably damaging Het
Gal3st1 T C 11: 3,946,914 (GRCm39) probably benign Het
Gart G A 16: 91,439,980 (GRCm39) R4* probably null Het
Gm21738 T A 14: 19,417,361 (GRCm38) T56S probably benign Het
Gm3573 T A 14: 42,009,523 (GRCm39) I141L probably benign Het
Gpr6 A G 10: 40,947,147 (GRCm39) M145T probably benign Het
Kcns3 T C 12: 11,142,427 (GRCm39) M91V probably benign Het
Mto1 A G 9: 78,368,925 (GRCm39) K529R probably benign Het
Naip2 A T 13: 100,291,446 (GRCm39) V1164D probably damaging Het
Or2ag13 T C 7: 106,473,460 (GRCm39) probably benign Het
Or8k21 A T 2: 86,145,288 (GRCm39) I114N probably damaging Het
Plekha1 T C 7: 130,503,984 (GRCm39) probably benign Het
Psg26 T C 7: 18,212,255 (GRCm39) S367G possibly damaging Het
Rps6kb1 T C 11: 86,393,592 (GRCm39) M513V probably benign Het
Slitrk3 C T 3: 72,956,606 (GRCm39) G722D probably benign Het
Stag1 A G 9: 100,827,986 (GRCm39) E1005G probably benign Het
Tgfbr2 A T 9: 115,959,048 (GRCm39) L122Q possibly damaging Het
Traf2 G A 2: 25,410,450 (GRCm39) R400* probably null Het
Trim33 C T 3: 103,254,031 (GRCm39) Q153* probably null Het
Zmynd15 T C 11: 70,356,742 (GRCm39) Y551H probably damaging Het
Znrd2 A G 19: 5,781,293 (GRCm39) S78P probably damaging Het
Other mutations in Mtarc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01326:Mtarc2 APN 1 184,566,048 (GRCm39) splice site probably benign
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 2013-06-28