Incidental Mutation 'R5734:Marc2'
Institutional Source Beutler Lab
Gene Symbol Marc2
Ensembl Gene ENSMUSG00000073481
Gene Namemitochondrial amidoxime reducing component 2
MMRRC Submission 043348-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.097) question?
Stock #R5734 (G1)
Quality Score225
Status Validated
Chromosomal Location184813068-184846451 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 184832589 bp
Amino Acid Change Glutamic Acid to Glycine at position 155 (E155G)
Ref Sequence ENSEMBL: ENSMUSP00000125374 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068725] [ENSMUST00000161821]
Predicted Effect probably benign
Transcript: ENSMUST00000068725
AA Change: E248G

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000066715
Gene: ENSMUSG00000073481
AA Change: E248G

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
AA Change: E155G

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000125374
Gene: ENSMUSG00000073481
AA Change: E155G

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
Meta Mutation Damage Score 0.114 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.9%
  • 20x: 94.8%
Validation Efficiency 98% (61/62)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310035C23Rik T C 1: 105,703,883 probably benign Het
4931429L15Rik A G 9: 46,304,005 probably benign Het
Abcc9 A G 6: 142,625,731 probably benign Het
Adamts2 G A 11: 50,788,667 G825R probably damaging Het
Adgre1 A T 17: 57,443,990 R555W probably benign Het
Apob T A 12: 7,988,781 V398D probably damaging Het
Arid4b A G 13: 14,160,271 N355S probably benign Het
Asb3 G T 11: 31,029,021 D143Y probably damaging Het
Birc6 G A 17: 74,618,424 probably benign Het
Cacna1a A G 8: 84,583,731 M1425V probably damaging Het
Capn9 A G 8: 124,605,844 E474G probably damaging Het
Capza2 T C 6: 17,660,765 S155P probably damaging Het
Ccdc125 A G 13: 100,687,114 N202S possibly damaging Het
Chrm5 T A 2: 112,480,100 T224S probably benign Het
Chtop C T 3: 90,502,115 probably null Het
Clip1 T C 5: 123,615,154 probably benign Het
Cyr61 A G 3: 145,648,268 C256R probably damaging Het
Dbx2 T C 15: 95,654,723 T14A possibly damaging Het
Dcaf8 T C 1: 172,172,911 V212A possibly damaging Het
Fam114a1 T C 5: 65,009,046 M240T probably damaging Het
Fat1 T C 8: 45,051,209 Y4580H probably damaging Het
Glipr1 G A 10: 111,985,793 R200* probably null Het
Gm6408 A T 5: 146,482,382 Y69F probably benign Het
Gpt2 T C 8: 85,523,256 S456P probably benign Het
Kat8 T C 7: 127,920,579 F225S probably benign Het
Lactb2 T A 1: 13,660,387 N22Y probably damaging Het
Lin28a A T 4: 134,007,973 C67* probably null Het
Myoz3 G A 18: 60,579,471 T104M possibly damaging Het
Nek9 C T 12: 85,303,515 M928I probably benign Het
Nlrp9a G C 7: 26,570,640 A831P probably damaging Het
Nop53 T C 7: 15,945,962 probably null Het
Ofcc1 T A 13: 40,087,849 T728S probably damaging Het
Pabpc4l T A 3: 46,446,689 probably null Het
Rbm34 T C 8: 126,970,130 probably null Het
Robo2 C T 16: 74,352,784 C52Y probably damaging Het
Rpgr G A X: 10,166,272 P857L probably benign Het
Scn2a A G 2: 65,717,722 Y57C possibly damaging Het
Selp C T 1: 164,143,891 probably benign Het
Skp2 T C 15: 9,139,479 D43G possibly damaging Het
Smad5 T A 13: 56,723,804 S71T probably damaging Het
Sorcs1 G T 19: 50,182,775 H892N probably benign Het
Sox6 C T 7: 115,541,621 probably null Het
St3gal1 A T 15: 67,106,673 I333N probably damaging Het
Tex15 C A 8: 33,546,336 Q97K probably benign Het
Tnxb A T 17: 34,698,910 T2266S possibly damaging Het
Tpbgl C A 7: 99,625,742 G303C probably damaging Het
Trat1 A T 16: 48,734,941 S143T possibly damaging Het
Trpm8 T A 1: 88,355,280 V763E probably benign Het
Ttc21a G A 9: 119,966,666 D1189N probably benign Het
Usp7 T C 16: 8,701,981 N178D possibly damaging Het
Zfp217 T C 2: 170,119,144 D421G possibly damaging Het
Zfp382 T C 7: 30,134,430 F502S probably damaging Het
Other mutations in Marc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01010:Marc2 APN 1 184819316 missense probably benign 0.00
IGL01326:Marc2 APN 1 184833851 splice site probably benign
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
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
Predicted Primers PCR Primer

Sequencing Primer
Posted On2017-01-03