Incidental Mutation 'R6986:Mtarc2'
ID 542946
Institutional Source Beutler Lab
Gene Symbol Mtarc2
Ensembl Gene ENSMUSG00000073481
Gene Name mitochondrial amidoxime reducing component 2
Synonyms Marc2, Mosc2, 2810484M10Rik
MMRRC Submission 045093-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.068) question?
Stock # R6986 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 184545265-184578648 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 184573460 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 53 (H53R)
Ref Sequence ENSEMBL: ENSMUSP00000125374 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068725] [ENSMUST00000161821]
AlphaFold Q922Q1
Predicted Effect probably benign
Transcript: ENSMUST00000068725
AA Change: H146R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000066715
Gene: ENSMUSG00000073481
AA Change: H146R

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 probably benign
Transcript: ENSMUST00000161821
AA Change: H53R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000125374
Gene: ENSMUSG00000073481
AA Change: H53R

DomainStartEndE-ValueType
Pfam:MOSC_N 1 82 9e-24 PFAM
Pfam:MOSC 94 190 2.4e-32 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 98.1%
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy9 T C 16: 4,129,441 (GRCm39) N482D probably damaging Het
Agbl3 A G 6: 34,816,387 (GRCm39) K766E probably benign Het
Aldh3a1 T A 11: 61,105,077 (GRCm39) I154N probably damaging Het
Cdca2 C T 14: 67,932,446 (GRCm39) V486I probably benign Het
Celf3 G C 3: 94,395,024 (GRCm39) A313P possibly damaging Het
Cgrrf1 T C 14: 47,069,586 (GRCm39) probably benign Het
Chd7 T A 4: 8,859,285 (GRCm39) N2458K possibly damaging Het
Chrna5 T A 9: 54,913,741 (GRCm39) M429K possibly damaging Het
Cux2 A T 5: 122,006,642 (GRCm39) L876Q possibly damaging Het
Cyb5rl T A 4: 106,928,073 (GRCm39) S3T probably benign Het
Ehd4 A T 2: 119,927,571 (GRCm39) M321K probably damaging Het
Ell2 C A 13: 75,910,006 (GRCm39) L119M probably damaging Het
Endod1 T C 9: 14,268,606 (GRCm39) E293G probably damaging Het
Fat3 G A 9: 15,932,631 (GRCm39) T1434I probably damaging Het
Flrt2 T A 12: 95,747,459 (GRCm39) I599N probably damaging Het
Gm6370 T A 5: 146,430,398 (GRCm39) probably null Het
Gm7247 T C 14: 51,602,832 (GRCm39) M56T possibly damaging Het
H3c8 A G 13: 23,719,603 (GRCm39) probably benign Het
Herc2 G A 7: 55,756,201 (GRCm39) R747H possibly damaging Het
Ints8 T C 4: 11,204,474 (GRCm39) Y994C probably damaging Het
Irf1 A G 11: 53,664,966 (GRCm39) T165A probably damaging Het
Lgr6 G T 1: 134,921,694 (GRCm39) Q217K possibly damaging Het
Lrrc36 T C 8: 106,185,079 (GRCm39) S619P probably damaging Het
Morn4 T C 19: 42,066,453 (GRCm39) N45D possibly damaging Het
Mtmr3 T C 11: 4,439,692 (GRCm39) T583A probably damaging Het
Ncdn A G 4: 126,641,022 (GRCm39) Y493H probably damaging Het
Nckap1 T A 2: 80,350,911 (GRCm39) Y726F probably benign Het
Optc T A 1: 133,825,702 (GRCm39) M275L probably benign Het
Or2w25 A G 11: 59,504,924 (GRCm39) K378R possibly damaging Het
Or6c69c G A 10: 129,911,199 (GRCm39) V307M possibly damaging Het
Perm1 A T 4: 156,302,976 (GRCm39) K507* probably null Het
Pgbd5 C T 8: 125,111,212 (GRCm39) E160K possibly damaging Het
Polr2k C A 15: 36,175,181 (GRCm39) P14T probably benign Het
Ppp2r3d A T 9: 124,439,080 (GRCm38) Y112* probably null Het
Pramel14 T A 4: 143,719,888 (GRCm39) D159V probably damaging Het
Rnase9 T C 14: 51,276,537 (GRCm39) N147S probably benign Het
Rnls C T 19: 33,359,781 (GRCm39) G11D probably damaging Het
Sbf2 T C 7: 109,929,822 (GRCm39) T333A probably damaging Het
Scn3a A T 2: 65,338,962 (GRCm39) N572K probably damaging Het
Serinc3 A G 2: 163,469,891 (GRCm39) L319P probably benign Het
Setbp1 T C 18: 78,901,054 (GRCm39) D871G probably damaging Het
Sf3b2 T C 19: 5,329,923 (GRCm39) T661A probably benign Het
Sgsm2 T A 11: 74,782,867 (GRCm39) R30W probably damaging Het
Sh3tc1 A G 5: 35,881,288 (GRCm39) S52P probably benign Het
Smox C T 2: 131,364,031 (GRCm39) A45V possibly damaging Het
Snrpa A T 7: 26,892,389 (GRCm39) M57K probably damaging Het
Spata31f3 A G 4: 42,868,696 (GRCm39) V309A possibly damaging Het
Srbd1 A T 17: 86,292,650 (GRCm39) I973N probably damaging Het
Srp72 T A 5: 77,142,723 (GRCm39) S428T probably benign Het
Ss18l2 A G 9: 121,541,671 (GRCm39) Y50C probably damaging Het
St14 A G 9: 31,007,845 (GRCm39) L578P probably damaging Het
Ticam1 C T 17: 56,576,900 (GRCm39) E732K probably benign Het
Tmc1 T C 19: 20,801,647 (GRCm39) N460D probably benign Het
Tnni3k C T 3: 154,667,501 (GRCm39) G280R probably damaging Het
Trgv6 G T 13: 19,374,814 (GRCm39) G40W possibly damaging Het
Trpc3 A G 3: 36,709,165 (GRCm39) probably null Het
Tshr C T 12: 91,500,731 (GRCm39) A152V probably damaging Het
Tuft1 G A 3: 94,521,461 (GRCm39) P358S probably damaging Het
Vmn2r120 A T 17: 57,816,340 (GRCm39) S672T probably damaging Het
Vmn2r83 G T 10: 79,316,093 (GRCm39) E496D probably benign Het
Vmn2r91 A G 17: 18,356,271 (GRCm39) N646S probably benign Het
Zfp9 A G 6: 118,441,426 (GRCm39) V412A possibly damaging Het
Zmynd8 G T 2: 165,675,335 (GRCm39) H273N probably 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
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
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'- CTCAAAGCTAGTCCTGGGTAC -3'
(R):5'- TTGGGAAATGAGGAAGCTGTTC -3'

Sequencing Primer
(F):5'- GGTACCCTTAACAGTCGCTCAC -3'
(R):5'- AAGCTGTTCTGAGTGTGCCC -3'
Posted On 2018-11-28