Incidental Mutation 'R7610:Mtarc2'
ID 588527
Institutional Source Beutler Lab
Gene Symbol Mtarc2
Ensembl Gene ENSMUSG00000073481
Gene Name mitochondrial amidoxime reducing component 2
Synonyms Marc2, Mosc2, 2810484M10Rik
MMRRC Submission 045679-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.068) question?
Stock # R7610 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 184545265-184578648 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 184551483 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 318 (Y318H)
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: Y318H

PolyPhen 2 Score 0.110 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000066715
Gene: ENSMUSG00000073481
AA Change: Y318H

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
SMART Domains Protein: ENSMUSP00000125374
Gene: ENSMUSG00000073481

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: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (51/51)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acta2 G A 19: 34,229,931 (GRCm39) T8I probably benign Het
Adtrp A G 13: 41,969,670 (GRCm39) F110L probably benign Het
Akap9 T G 5: 4,007,677 (GRCm39) D230E possibly damaging Het
Alg11 G A 8: 22,555,147 (GRCm39) R136H probably damaging Het
Ank3 A T 10: 69,822,252 (GRCm39) N307I Het
Ankrd17 A G 5: 90,380,222 (GRCm39) S2489P possibly damaging Het
Asf1b T G 8: 84,691,678 (GRCm39) I43S probably damaging Het
Cdc37l1 G T 19: 28,985,132 (GRCm39) G261W possibly damaging Het
Cpped1 C A 16: 11,712,742 (GRCm39) probably null Het
Ctsk T C 3: 95,408,155 (GRCm39) F4L probably benign Het
D130043K22Rik A T 13: 25,059,985 (GRCm39) T619S probably benign Het
Ddx25 T A 9: 35,465,893 (GRCm39) L109F possibly damaging Het
Dhrs9 C A 2: 69,223,291 (GRCm39) A13D unknown Het
Epha7 C T 4: 28,871,937 (GRCm39) S422L probably benign Het
Fam228a A G 12: 4,781,423 (GRCm39) probably null Het
Fancm T C 12: 65,152,454 (GRCm39) V970A probably damaging Het
Fcrl2 C A 3: 87,160,004 (GRCm39) V417F probably damaging Het
Fig4 C A 10: 41,129,709 (GRCm39) A504S probably damaging Het
Frmpd1 T C 4: 45,279,098 (GRCm39) S608P probably damaging Het
Ggta1 C T 2: 35,304,230 (GRCm39) probably null Het
Grb10 T C 11: 11,893,955 (GRCm39) K377R probably benign Het
Hivep3 CGG CG 4: 119,955,108 (GRCm39) 1141 probably null Het
Klf14 A G 6: 30,935,005 (GRCm39) S210P probably damaging Het
Mcm3ap A G 10: 76,332,554 (GRCm39) probably null Het
Mgrn1 T C 16: 4,752,097 (GRCm39) *533Q probably null Het
Notch1 A T 2: 26,368,191 (GRCm39) H598Q probably benign Het
Nt5el T A 13: 105,247,695 (GRCm39) N338K probably damaging Het
Ntng1 A G 3: 109,842,141 (GRCm39) S211P probably damaging Het
Or13a21 A T 7: 139,999,466 (GRCm39) C73* probably null Het
Or8i2 A G 2: 86,852,141 (GRCm39) V249A possibly damaging Het
Pgm5 A C 19: 24,812,120 (GRCm39) N137K probably damaging Het
Plcb2 T A 2: 118,550,240 (GRCm39) N172I possibly damaging Het
Pramel26 A T 4: 143,539,436 (GRCm39) M19K probably damaging Het
Rab11fip1 G A 8: 27,642,064 (GRCm39) H912Y probably benign Het
Rgl1 A G 1: 152,428,371 (GRCm39) V251A probably damaging Het
Rgs6 T C 12: 83,138,553 (GRCm39) Y296H probably damaging Het
Rhpn1 A G 15: 75,584,245 (GRCm39) T446A unknown Het
Rtn3 A G 19: 7,435,294 (GRCm39) S233P probably damaging Het
Rwdd1 A C 10: 33,877,134 (GRCm39) D203E probably benign Het
Samd9l A G 6: 3,376,754 (GRCm39) V169A probably benign Het
Slfn5 T C 11: 82,852,310 (GRCm39) L812P probably damaging Het
Smc1b T C 15: 84,955,021 (GRCm39) D1077G possibly damaging Het
Snrnp48 A G 13: 38,393,937 (GRCm39) R81G probably damaging Het
Syt17 A T 7: 118,033,682 (GRCm39) probably null Het
Tpsg1 G T 17: 25,592,184 (GRCm39) G86V probably damaging Het
Ttc3 T C 16: 94,228,697 (GRCm39) I757T probably benign Het
Urb1 CACTTAC CAC 16: 90,569,461 (GRCm39) probably benign Het
Wdr54 C T 6: 83,129,839 (GRCm39) V305M possibly damaging Het
Xirp2 C T 2: 67,356,306 (GRCm39) T3689I possibly damaging Het
Zscan18 T C 7: 12,503,237 (GRCm39) K774R 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
R6986:Mtarc2 UTSW 1 184,573,460 (GRCm39) missense probably benign
R7569:Mtarc2 UTSW 1 184,573,622 (GRCm39) missense possibly damaging 0.66
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'- TCGTTCTCCACATAATTAAAGCAGC -3'
(R):5'- TGTTGGCCCATAATTAGCCTG -3'

Sequencing Primer
(F):5'- AGGACACAGGTTTGATTCCC -3'
(R):5'- ATCGCCTGTGTGATCCTT -3'
Posted On 2019-10-24