Mutagenetix > Incidental Mutation

Incidental Mutation 'R4899:Mtarc2'

375981

Institutional Source

Beutler Lab

Gene Symbol

Mtarc2

Ensembl Gene

ENSMUSG00000073481

Gene Name

mitochondrial amidoxime reducing component 2

Synonyms

Marc2, Mosc2, 2810484M10Rik

MMRRC Submission

042503-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.064) question?

Stock #

R4899 (G1)

Quality Score

219

Status

Not validated

Chromosome

Chromosomal Location

184545265-184578648 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 184577821 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 65 (I65N)

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: I65N

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000066715
Gene: ENSMUSG00000073481
AA Change: I65N

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

SMART Domains

Protein: ENSMUSP00000125374
Gene: ENSMUSG00000073481

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
Pfam:MOSC_N	1	93	5.9e-29	PFAM
Pfam:MOSC	105	173	1.4e-19	PFAM

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.7%

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd18	C	G	3: 40,860,304 (GRCm39)		probably null	Het
Adra2c	A	T	5: 35,437,705 (GRCm39)	Y159F	probably damaging	Het
Alkal2	T	A	12: 30,934,972 (GRCm39)	S64T	probably benign	Het
Apbb1ip	T	C	2: 22,713,361 (GRCm39)	V72A	unknown	Het
Atp13a5	A	G	16: 29,197,318 (GRCm39)	L13P	probably damaging	Het
Azin2	G	A	4: 128,828,446 (GRCm39)	P254S	probably benign	Het
Bmpr1b	T	C	3: 141,546,444 (GRCm39)	R481G	probably damaging	Het
Cacna2d4	G	A	6: 119,245,157 (GRCm39)	W288*	probably null	Het
Cass4	A	G	2: 172,269,789 (GRCm39)	T626A	probably benign	Het
Cep112	T	A	11: 108,497,110 (GRCm39)	D683E	probably damaging	Het
Cfap300	A	T	9: 8,022,494 (GRCm39)	S243T	possibly damaging	Het
Chat	G	T	14: 32,170,934 (GRCm39)	S188R	possibly damaging	Het
Cit	A	G	5: 116,001,087 (GRCm39)	Y162C	possibly damaging	Het
Clca3a1	T	A	3: 144,443,722 (GRCm39)	Y676F	probably damaging	Het
Clec2h	A	G	6: 128,652,787 (GRCm39)	N185D	probably benign	Het
Cnbd2	G	T	2: 156,181,141 (GRCm39)	V192F	probably benign	Het
Col6a3	C	A	1: 90,730,149 (GRCm39)	G1112V	probably damaging	Het
Csta2	A	T	16: 36,077,731 (GRCm39)	Y96F	possibly damaging	Het
Cyp3a25	A	G	5: 145,914,481 (GRCm39)	F483S	possibly damaging	Het
Dscam	T	C	16: 96,485,018 (GRCm39)	E1103G	probably benign	Het
Dync2h1	G	A	9: 7,131,921 (GRCm39)	Q1629*	probably null	Het
Enpp6	A	G	8: 47,440,118 (GRCm39)	Y38C	probably damaging	Het
Epg5	T	A	18: 78,028,272 (GRCm39)	L1271Q	probably damaging	Het
Fam47e	G	A	5: 92,722,528 (GRCm39)	V75I	probably benign	Het
Fat3	T	C	9: 15,881,095 (GRCm39)	D3259G	probably damaging	Het
Fbxw28	T	C	9: 109,159,921 (GRCm39)	D211G	probably damaging	Het
Flnc	A	G	6: 29,446,842 (GRCm39)	N990D	probably benign	Het
Frat1	T	G	19: 41,818,761 (GRCm39)	L52R	probably damaging	Het
Ftmt	C	G	18: 52,464,658 (GRCm39)		probably benign	Het
H2-M1	C	T	17: 36,982,112 (GRCm39)	G163D	probably benign	Het
Hapln1	A	G	13: 89,749,769 (GRCm39)	K105E	possibly damaging	Het
Igkv17-127	G	T	6: 67,838,381 (GRCm39)	A31S	probably benign	Het
Il6st	T	C	13: 112,637,695 (GRCm39)	L628P	probably damaging	Het
Kcnj6	A	G	16: 94,633,472 (GRCm39)	I213T	probably damaging	Het
Kidins220	T	C	12: 25,063,442 (GRCm39)		probably null	Het
Lama2	TTTGCGCATT	TTT	10: 26,919,639 (GRCm39)		probably null	Het
Llgl1	C	T	11: 60,600,394 (GRCm39)	P581L	probably benign	Het
Mertk	C	A	2: 128,625,845 (GRCm39)	P660Q	probably damaging	Het
Mrtfa	A	G	15: 80,902,587 (GRCm39)	Y241H	probably damaging	Het
Napepld	A	G	5: 21,888,438 (GRCm39)	Y4H	probably benign	Het
Ncam1	T	A	9: 49,456,551 (GRCm39)		probably null	Het
Nuak2	A	T	1: 132,252,724 (GRCm39)	K93*	probably null	Het
Oat	A	T	7: 132,165,951 (GRCm39)	D211E	probably benign	Het
Or1j19	A	G	2: 36,676,810 (GRCm39)	Q91R	probably benign	Het
Or2aj6	G	A	16: 19,442,950 (GRCm39)	A300V	probably benign	Het
Or4c109	A	C	2: 88,818,454 (GRCm39)	L31V	probably null	Het
Or51b17	A	G	7: 103,542,672 (GRCm39)	I90T	possibly damaging	Het
Or7a39	A	T	10: 78,715,041 (GRCm39)	S12C	probably benign	Het
Pde4dip	C	A	3: 97,616,874 (GRCm39)	K1789N	probably damaging	Het
Piezo2	T	C	18: 63,211,862 (GRCm39)	I1322V	possibly damaging	Het
Pih1d1	A	G	7: 44,803,951 (GRCm39)		probably benign	Het
Plekhd1	T	C	12: 80,769,101 (GRCm39)	S454P	probably damaging	Het
Polr2h	G	A	16: 20,539,303 (GRCm39)	V89M	probably damaging	Het
Pptc7	G	A	5: 122,422,780 (GRCm39)	G17S	possibly damaging	Het
Pramel55	T	C	5: 95,949,586 (GRCm39)	V111A	probably benign	Het
Ptpra	T	C	2: 130,386,356 (GRCm39)	V602A	probably damaging	Het
Rnf123	C	T	9: 107,940,879 (GRCm39)	R654H	probably damaging	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Samsn1	A	G	16: 75,675,991 (GRCm39)	S135P	probably damaging	Het
Sgsm3	A	G	15: 80,890,980 (GRCm39)	N147S	probably benign	Het
Shoc1	T	C	4: 59,062,640 (GRCm39)	Y872C	probably damaging	Het
Slc22a29	T	C	19: 8,138,933 (GRCm39)	T510A	probably benign	Het
Smc4	T	A	3: 68,939,144 (GRCm39)	H978Q	probably damaging	Het
Sox7	G	A	14: 64,185,927 (GRCm39)	R321H	probably damaging	Het
Spred3	T	C	7: 28,861,258 (GRCm39)	D307G	probably damaging	Het
Syne2	T	A	12: 75,900,875 (GRCm39)	D11E	probably benign	Het
Tob1	ACAGCAGCAGCAGCAGCAGCAGCAGCA	ACAGCAGCAGCAGCAGCAGCAGCA	11: 94,105,278 (GRCm39)		probably benign	Het
Top2b	A	T	14: 16,387,313 (GRCm38)	I134F	probably damaging	Het
Tspan1	T	A	4: 116,020,563 (GRCm39)	R206*	probably null	Het
Ttc3	A	T	16: 94,230,314 (GRCm39)	N837I	probably damaging	Het
Vmn1r36	T	C	6: 66,693,549 (GRCm39)	T72A	possibly damaging	Het
Vmn2r10	A	G	5: 109,151,324 (GRCm39)	S97P	probably damaging	Het
Zfp2	T	A	11: 50,790,841 (GRCm39)	I401F	probably damaging	Het
Zfp629	T	C	7: 127,210,190 (GRCm39)	T540A	possibly damaging	Het
Zfr	G	A	15: 12,166,231 (GRCm39)	V834I	probably benign	Het

Other mutations in Mtarc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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

Predicted Primers

PCR Primer
(F):5'- TCACAAAGTTTGCACTCACCG -3'
(R):5'- AACATGGGTTCCTCCAGCTC -3'

Sequencing Primer
(F):5'- AAGTTTGCACTCACCGAGGGG -3'
(R):5'- TCCAGCTCTACGGCTCTGG -3'

Posted On

2016-03-17