Incidental Mutation 'IGL01326:Marc2'
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Marc2
Ensembl Gene ENSMUSG00000073481
Gene Namemitochondrial amidoxime reducing component 2
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.084) question?
Stock #IGL01326
Quality Score
Chromosomal Location184813068-184846451 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) T to C at 184833851 bp
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000125374 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068725] [ENSMUST00000161821]
Predicted Effect probably benign
Transcript: ENSMUST00000068725
SMART Domains Protein: ENSMUSP00000066715
Gene: ENSMUSG00000073481

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

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

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

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: 138,286,911 V263M probably damaging Het
Akap13 T A 7: 75,725,348 H1909Q probably benign Het
Atg2b C T 12: 105,622,144 A1936T probably damaging Het
Atp8b3 G T 10: 80,524,376 L954M probably damaging Het
C8a T C 4: 104,856,420 Y171C probably damaging Het
Cd6 A G 19: 10,791,102 S508P probably benign Het
Cdk4 A G 10: 127,064,623 D86G possibly damaging Het
Cdr2l G T 11: 115,390,970 R100S probably benign Het
Cndp1 T A 18: 84,622,232 T283S probably benign Het
Cr2 T C 1: 195,141,221 Y1023C probably null Het
Csmd3 A G 15: 47,849,785 F1494L probably benign Het
Eng G T 2: 32,672,382 G231W probably benign Het
Erp44 A G 4: 48,218,126 V181A probably benign Het
Fam102b A G 3: 108,979,785 V299A possibly damaging Het
Fkbp15 A G 4: 62,323,250 S553P probably damaging Het
Glg1 A G 8: 111,182,573 V495A probably damaging Het
Gm9631 A T 11: 121,945,628 D28E possibly damaging Het
Gnptab G T 10: 88,433,065 L543F probably damaging Het
Hist1h4c A T 13: 23,698,370 I27N probably damaging Het
Khdrbs2 T G 1: 32,657,477 L329R possibly damaging Het
Kidins220 C A 12: 25,038,499 H1080Q probably damaging Het
Maml1 G A 11: 50,265,888 P487S probably benign Het
Me1 C T 9: 86,598,718 probably null Het
Morc2a C T 11: 3,681,775 R569C probably benign Het
Mrc1 A G 2: 14,266,524 Q413R probably damaging Het
Mrgprx1 A T 7: 48,021,769 C77S probably benign Het
Myo1d A T 11: 80,684,321 probably benign Het
Nr4a1 T G 15: 101,274,059 L538R probably damaging Het
Olfm1 T C 2: 28,229,552 Y385H probably damaging Het
Olfr1034 A G 2: 86,047,283 E267G probably damaging Het
Olfr1238 A T 2: 89,406,331 F249L possibly damaging Het
Pkd1 T A 17: 24,576,174 Y2278* probably null Het
Plcg2 T C 8: 117,573,999 probably benign Het
Prkdc G T 16: 15,829,692 C3660F probably benign Het
Ptpn11 T C 5: 121,143,136 D493G probably damaging Het
Rad23b T A 4: 55,383,601 F278I possibly damaging Het
Saxo2 T C 7: 82,648,405 I9V probably benign Het
Scn7a T C 2: 66,752,260 I98V probably benign Het
Serac1 T A 17: 6,074,253 probably benign Het
Simc1 T C 13: 54,524,660 C274R probably benign Het
Sirt3 A G 7: 140,864,093 probably benign Het
Tctn3 A G 19: 40,597,436 L555P probably damaging Het
Ttc14 A G 3: 33,801,358 I151V probably benign Het
Ush2a T A 1: 188,263,321 Y96* probably null Het
Usp42 T C 5: 143,721,215 T270A possibly damaging Het
Vmn1r31 A G 6: 58,472,799 I27T probably benign Het
Vmn2r93 G A 17: 18,316,644 A530T possibly damaging Het
Other mutations in Marc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01010:Marc2 APN 1 184819316 missense probably benign 0.00
IGL01386:Marc2 APN 1 184819216 unclassified probably benign
IGL01636:Marc2 APN 1 184832641 missense probably benign 0.25
LCD18:Marc2 UTSW 1 184822788 intron probably benign
R0594:Marc2 UTSW 1 184841339 missense probably benign 0.00
R1340:Marc2 UTSW 1 184822547 missense probably benign 0.05
R3797:Marc2 UTSW 1 184841308 missense possibly damaging 0.79
R4899:Marc2 UTSW 1 184845624 missense probably damaging 1.00
R4960:Marc2 UTSW 1 184833919 missense probably benign 0.00
R5734:Marc2 UTSW 1 184832589 missense probably benign 0.01
R6266:Marc2 UTSW 1 184833943 missense probably damaging 1.00
R6331:Marc2 UTSW 1 184819328 missense probably damaging 0.98
R6550:Marc2 UTSW 1 184819342 missense probably damaging 1.00
R6986:Marc2 UTSW 1 184841263 missense probably benign
R7569:Marc2 UTSW 1 184841425 missense possibly damaging 0.66
R7610:Marc2 UTSW 1 184819286 missense probably benign 0.11
R8152:Marc2 UTSW 1 184841312 missense possibly damaging 0.90
R8363:Marc2 UTSW 1 184833858 critical splice donor site probably null
Posted On2013-10-07