Incidental Mutation 'R6550:Mtarc2'
ID 521474
Institutional Source Beutler Lab
Gene Symbol Mtarc2
Ensembl Gene ENSMUSG00000073481
Gene Name mitochondrial amidoxime reducing component 2
Synonyms Marc2, Mosc2, 2810484M10Rik
MMRRC Submission 044675-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.068) question?
Stock # R6550 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 184545265-184578648 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 184551539 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 299 (R299L)
Ref Sequence ENSEMBL: ENSMUSP00000066715 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068725] [ENSMUST00000161821]
AlphaFold Q922Q1
Predicted Effect probably damaging
Transcript: ENSMUST00000068725
AA Change: R299L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000066715
Gene: ENSMUSG00000073481
AA Change: R299L

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 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: ENSMUST00000162866
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162261
Meta Mutation Damage Score 0.9526 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 97.9%
Validation Efficiency 98% (39/40)
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apbb1ip A G 2: 22,748,245 (GRCm39) D355G probably damaging Het
Asz1 T C 6: 18,051,380 (GRCm39) D433G probably damaging Het
Atl3 A G 19: 7,499,503 (GRCm39) T256A probably benign Het
Atp8b4 T A 2: 126,266,113 (GRCm39) T183S probably damaging Het
Bahcc1 C T 11: 120,167,477 (GRCm39) H1293Y possibly damaging Het
Bin2 A G 15: 100,543,358 (GRCm39) V243A probably benign Het
Camta1 A C 4: 151,222,832 (GRCm39) F908L probably damaging Het
Cbx2 T C 11: 118,919,851 (GRCm39) V472A possibly damaging Het
Cd22 T C 7: 30,576,977 (GRCm39) D110G probably benign Het
Cfap69 A T 5: 5,631,220 (GRCm39) D764E probably benign Het
Col2a1 A G 15: 97,874,674 (GRCm39) I1321T unknown Het
Cyp2c67 G T 19: 39,605,854 (GRCm39) Y347* probably null Het
D630044L22Rik A T 17: 26,180,628 (GRCm39) R66S possibly damaging Het
Defa27 A C 8: 21,806,340 (GRCm39) R46S possibly damaging Het
E330034G19Rik A G 14: 24,346,886 (GRCm39) M58V probably benign Het
Efhb G T 17: 53,728,968 (GRCm39) H574N probably benign Het
Eml2 G A 7: 18,935,088 (GRCm39) V432I probably damaging Het
Erlin1 A T 19: 44,025,602 (GRCm39) probably null Het
Gm10912 C T 2: 103,896,996 (GRCm39) T45I possibly damaging Het
Hsh2d C A 8: 72,952,297 (GRCm39) T156K probably benign Het
Lrrc49 G T 9: 60,584,430 (GRCm39) Q139K probably benign Het
Map3k21 A G 8: 126,664,031 (GRCm39) S531G probably damaging Het
Mcm2 A G 6: 88,863,941 (GRCm39) probably null Het
Myo9a T C 9: 59,775,482 (GRCm39) F1031S probably damaging Het
Or1o1 G A 17: 37,716,796 (GRCm39) R119H probably benign Het
Or2n1d C T 17: 38,646,896 (GRCm39) P283S possibly damaging Het
Pmfbp1 T C 8: 110,246,839 (GRCm39) V237A possibly damaging Het
Polrmt C A 10: 79,575,514 (GRCm39) Q672H probably damaging Het
Pp2d1 T C 17: 53,822,604 (GRCm39) D154G probably damaging Het
Rars1 T C 11: 35,724,010 (GRCm39) I57V probably benign Het
Selplg G A 5: 113,958,210 (GRCm39) P32L probably benign Het
Slc8b1 A G 5: 120,662,082 (GRCm39) E257G probably damaging Het
Spata31e3 G A 13: 50,399,482 (GRCm39) P948L probably benign Het
Tasor2 A G 13: 3,640,519 (GRCm39) V206A possibly damaging Het
Tmem161b C A 13: 84,370,537 (GRCm39) probably benign Het
Tmem87b T A 2: 128,666,385 (GRCm39) H77Q possibly damaging Het
Tpr C T 1: 150,299,728 (GRCm39) L1200F probably damaging Het
Trir G T 8: 85,756,549 (GRCm39) V154L probably damaging Het
Wdfy3 A G 5: 102,101,032 (GRCm39) V195A probably benign Het
Zdhhc5 T C 2: 84,526,685 (GRCm39) I96V probably benign 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
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
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
Predicted Primers PCR Primer
(F):5'- TCCAAGTTGTAGACACAAAGGG -3'
(R):5'- GAGTTGTGAGTCCAAGGTACC -3'

Sequencing Primer
(F):5'- GGAAACTTACCGTGTCAGCCATG -3'
(R):5'- TAGCCTGAAGAGCAGTCT -3'
Posted On 2018-06-06