Incidental Mutation 'IGL01636:Mtarc2'
ID 92984
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 # IGL01636
Quality Score
Status
Chromosome 1
Chromosomal Location 184545265-184578648 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 184564838 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 231 (K231E)
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: K231E

PolyPhen 2 Score 0.250 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000066715
Gene: ENSMUSG00000073481
AA Change: K231E

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
AA Change: K138E

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000125374
Gene: ENSMUSG00000073481
AA Change: K138E

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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam4 T C 12: 81,466,723 (GRCm39) T633A possibly damaging Het
Adgrd1 G T 5: 129,219,516 (GRCm39) probably benign Het
Bmp7 T C 2: 172,717,001 (GRCm39) probably benign Het
Ccdc54 A G 16: 50,410,277 (GRCm39) *330Q probably null Het
Chd5 A T 4: 152,469,110 (GRCm39) K1812* probably null Het
Cnga3 T A 1: 37,299,874 (GRCm39) I236N possibly damaging Het
Ddost T G 4: 138,036,707 (GRCm39) D135E possibly damaging Het
Dicer1 T C 12: 104,688,500 (GRCm39) D359G probably damaging Het
Dnah17 A C 11: 117,931,882 (GRCm39) S3697A probably benign Het
Dnttip2 G A 3: 122,076,123 (GRCm39) G685D possibly damaging Het
Dst T G 1: 34,254,650 (GRCm39) S4552R probably damaging Het
Ebf2 G A 14: 67,476,927 (GRCm39) E157K probably damaging Het
Ehbp1 C T 11: 22,039,584 (GRCm39) V839M probably benign Het
Ehmt1 G T 2: 24,729,620 (GRCm39) T639K probably damaging Het
Esyt2 T C 12: 116,329,550 (GRCm39) probably null Het
Etv6 T C 6: 134,225,350 (GRCm39) S194P probably benign Het
Fam184b T C 5: 45,741,637 (GRCm39) H198R probably benign Het
Fam210b T C 2: 172,193,460 (GRCm39) F91S probably damaging Het
Fam81a G A 9: 70,006,434 (GRCm39) Q193* probably null Het
Fto A G 8: 92,135,969 (GRCm39) D79G probably damaging Het
Haspin C T 11: 73,028,231 (GRCm39) R286H possibly damaging Het
Hmcn1 C T 1: 150,455,984 (GRCm39) C5312Y probably damaging Het
Ik T A 18: 36,884,254 (GRCm39) D245E possibly damaging Het
Itga1 A G 13: 115,143,484 (GRCm39) V349A possibly damaging Het
Kdm8 T C 7: 125,060,377 (GRCm39) V400A probably damaging Het
Larp1b G T 3: 40,924,913 (GRCm39) R177L probably benign Het
Lifr T G 15: 7,208,499 (GRCm39) probably benign Het
Lrrn2 T C 1: 132,864,959 (GRCm39) L8P possibly damaging Het
Marcksl1 T A 4: 129,408,587 (GRCm39) D55E probably benign Het
Med12 C A X: 100,318,795 (GRCm39) S74R probably damaging Het
Or52s1 C A 7: 102,861,384 (GRCm39) R95S probably benign Het
Or6c35 A T 10: 129,168,752 (GRCm39) M1L probably damaging Het
Or7e170 A G 9: 19,795,484 (GRCm39) V39A probably benign Het
Or8k39 G A 2: 86,563,945 (GRCm39) Q4* probably null Het
Orc3 A C 4: 34,595,096 (GRCm39) L233R probably damaging Het
Pik3cd A G 4: 149,738,772 (GRCm39) M715T possibly damaging Het
Prss43 T A 9: 110,656,505 (GRCm39) L64Q possibly damaging Het
Pyroxd2 C A 19: 42,726,771 (GRCm39) G209V probably benign Het
Rab3b A G 4: 108,797,916 (GRCm39) D198G possibly damaging Het
Rrbp1 A T 2: 143,789,815 (GRCm39) probably benign Het
Smg6 T C 11: 74,825,929 (GRCm39) probably null Het
Ssrp1 T C 2: 84,871,443 (GRCm39) probably benign Het
Strip2 C A 6: 29,931,192 (GRCm39) T381K probably benign Het
Svep1 A T 4: 58,116,622 (GRCm39) L876Q possibly damaging Het
Tle4 T C 19: 14,429,897 (GRCm39) I625V probably damaging Het
Tnfrsf23 T C 7: 143,233,736 (GRCm39) T81A probably damaging Het
Ttc41 A G 10: 86,612,542 (GRCm39) K1272E probably benign Het
Usp3 A G 9: 66,469,834 (GRCm39) probably null Het
Vmn1r121 C T 7: 20,832,282 (GRCm39) V53M probably benign Het
Vmn1r65 A T 7: 6,011,720 (GRCm39) S171R probably benign Het
Vmn2r4 A T 3: 64,313,657 (GRCm39) D441E probably benign Het
Vps13d A T 4: 144,801,618 (GRCm39) H2353Q probably damaging Het
Vwa8 T C 14: 79,435,794 (GRCm39) S1835P possibly damaging Het
Other mutations in Mtarc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01010:Mtarc2 APN 1 184,551,513 (GRCm39) missense probably benign 0.00
IGL01326:Mtarc2 APN 1 184,566,048 (GRCm39) splice site probably benign
IGL01386:Mtarc2 APN 1 184,551,413 (GRCm39) unclassified probably benign
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 2013-12-09