Mutagenetix > Incidental Mutation

Incidental Mutation 'R0021:Nqo2'

218439

Institutional Source

Beutler Lab

Gene Symbol

Nqo2

Ensembl Gene

ENSMUSG00000046949

Gene Name

N-ribosyldihydronicotinamide quinone reductase 2

Synonyms

Ox-2, Ox2, Nmor2, NRH: quinone oxidoreductase

MMRRC Submission

038316-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.091) question?

Stock #

R0021 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

34148670-34172426 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 34165490 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 129 (I129T)

Ref Sequence

ENSEMBL: ENSMUSP00000152598 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021843] [ENSMUST00000058978] [ENSMUST00000076532] [ENSMUST00000166354] [ENSMUST00000167237] [ENSMUST00000168400] [ENSMUST00000220844] [ENSMUST00000222740] [ENSMUST00000223479] [ENSMUST00000171034]

AlphaFold

Q9JI75

Predicted Effect

probably benign
Transcript: ENSMUST00000021843
AA Change: I129T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000021843
Gene: ENSMUSG00000046949
AA Change: I129T

Domain	Start	End	E-Value	Type
Pfam:FMN_red	4	159	5.6e-15	PFAM
Pfam:Flavodoxin_2	4	212	3.5e-55	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000058978
AA Change: I129T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000053809
Gene: ENSMUSG00000046949
AA Change: I129T

Domain	Start	End	E-Value	Type
Pfam:FMN_red	4	158	2e-14	PFAM
Pfam:Flavodoxin_2	4	212	2.6e-55	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000076532

SMART Domains

Protein: ENSMUSP00000075848
Gene: ENSMUSG00000060147

Domain	Start	End	E-Value	Type
SERPIN	13	378	2.84e-179	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000166354

SMART Domains

Protein: ENSMUSP00000126287
Gene: ENSMUSG00000060147

Domain	Start	End	E-Value	Type
Pfam:Serpin	6	66	3.8e-18	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000167237

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000167597

Predicted Effect

probably benign
Transcript: ENSMUST00000168400

SMART Domains

Protein: ENSMUSP00000126450
Gene: ENSMUSG00000060147

Domain	Start	End	E-Value	Type
Pfam:Serpin	6	120	3.5e-31	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000170620

Predicted Effect

probably benign
Transcript: ENSMUST00000220844
AA Change: I85T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000222740
AA Change: I129T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000223479
AA Change: I129T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000171034

SMART Domains

Protein: ENSMUSP00000132433
Gene: ENSMUSG00000060147

Domain	Start	End	E-Value	Type
SERPIN	13	228	3.54e-34	SMART

Meta Mutation Damage Score

0.0766

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.6%
20x: 95.8%

Validation Efficiency

97% (60/62)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the thioredoxin family of enzymes. It is a cytosolic and ubiquitously expressed flavoprotein that catalyzes the two-electron reduction of quinone substrates and uses dihydronicotinamide riboside as a reducing coenzyme. Mutations in this gene have been associated with neurodegenerative diseases and several cancers. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]
PHENOTYPE: Mice homozygouse for disruptions in this gene have an essentially normal phenotype but with abnormalities in WBC counts and increased susceptibility to chemically induced tumors. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310016G11Rik	A	G	7: 44,326,620 (GRCm39)		noncoding transcript	Het
Abcc5	T	A	16: 20,197,411 (GRCm39)	K647*	probably null	Het
Aplp1	A	G	7: 30,135,241 (GRCm39)		probably benign	Het
Arhgef25	A	G	10: 127,025,423 (GRCm39)	I43T	probably benign	Het
Brinp3	T	G	1: 146,777,189 (GRCm39)	S545R	probably benign	Het
Btnl1	A	G	17: 34,598,468 (GRCm39)	E28G	probably benign	Het
C5ar2	A	G	7: 15,971,601 (GRCm39)	F109L	probably benign	Het
D630045J12Rik	G	A	6: 38,160,902 (GRCm39)	Q1081*	probably null	Het
Dhx36	T	C	3: 62,385,016 (GRCm39)	I699V	possibly damaging	Het
Dnah9	A	G	11: 65,860,805 (GRCm39)	I2855T	probably benign	Het
Dock8	T	C	19: 25,140,411 (GRCm39)	I1317T	probably benign	Het
Galnt11	A	T	5: 25,453,855 (GRCm39)	D27V	probably damaging	Het
Gm5134	T	A	10: 75,829,718 (GRCm39)	C335S	probably damaging	Het
Hdhd2	A	T	18: 77,058,311 (GRCm39)	K227N	probably damaging	Het
Impg1	A	T	9: 80,317,479 (GRCm39)	L36Q	probably damaging	Het
Krtcap3	A	G	5: 31,410,303 (GRCm39)	H227R	probably benign	Het
Lrrc7	A	G	3: 157,866,298 (GRCm39)	Y1148H	probably damaging	Het
Map2k4	A	G	11: 65,603,110 (GRCm39)	I174T	probably damaging	Het
Mef2c	C	A	13: 83,804,359 (GRCm39)	L282M	probably damaging	Het
Nkapd1	A	C	9: 50,521,725 (GRCm39)	D65E	probably damaging	Het
Pdgfrb	T	A	18: 61,197,998 (GRCm39)		probably benign	Het
Phf7	C	T	14: 30,960,443 (GRCm39)		probably benign	Het
Plac8	T	A	5: 100,704,434 (GRCm39)	T88S	probably benign	Het
Pou2f1	G	A	1: 165,703,587 (GRCm39)	T654M	probably damaging	Het
Ptprk	T	A	10: 28,468,891 (GRCm39)	V1425E	probably damaging	Het
Saal1	A	T	7: 46,342,316 (GRCm39)	S376T	probably damaging	Het
Scart2	G	A	7: 139,876,310 (GRCm39)	R594H	probably benign	Het
Serpini1	T	C	3: 75,526,620 (GRCm39)	Y291H	probably damaging	Het
Siah2	T	C	3: 58,583,713 (GRCm39)	H191R	probably benign	Het
Spaca6	T	A	17: 18,058,498 (GRCm39)	Y39*	probably null	Het
Tbc1d10a	T	C	11: 4,163,680 (GRCm39)	C277R	probably damaging	Het
Trim45	A	T	3: 100,832,736 (GRCm39)	D323V	probably damaging	Het
Trim55	A	C	3: 19,698,866 (GRCm39)	M32L	probably benign	Het
Unc5b	T	C	10: 60,614,698 (GRCm39)	T200A	probably benign	Het
Uqcc4	A	G	17: 25,403,957 (GRCm39)	E99G	possibly damaging	Het
V1rd19	A	T	7: 23,703,029 (GRCm39)	D165V	probably damaging	Het

Other mutations in Nqo2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02135:Nqo2	APN	13	34,169,326 (GRCm39)	nonsense	probably null
IGL02884:Nqo2	APN	13	34,156,344 (GRCm39)	missense	probably damaging	1.00
R0021:Nqo2	UTSW	13	34,165,490 (GRCm39)	missense	probably benign
R0848:Nqo2	UTSW	13	34,156,461 (GRCm39)	critical splice donor site	probably null
R0853:Nqo2	UTSW	13	34,163,560 (GRCm39)	missense	probably benign
R3417:Nqo2	UTSW	13	34,163,616 (GRCm39)	missense	probably benign	0.01
R4110:Nqo2	UTSW	13	34,163,620 (GRCm39)	missense	probably benign	0.00
R4936:Nqo2	UTSW	13	34,165,501 (GRCm39)	missense	probably damaging	1.00
R5861:Nqo2	UTSW	13	34,156,413 (GRCm39)	missense	probably damaging	1.00
R6161:Nqo2	UTSW	13	34,163,634 (GRCm39)	missense	probably damaging	0.99
R6599:Nqo2	UTSW	13	34,163,539 (GRCm39)	missense	probably damaging	1.00
R7909:Nqo2	UTSW	13	34,156,414 (GRCm39)	missense	probably damaging	1.00
R8133:Nqo2	UTSW	13	34,169,461 (GRCm39)	missense	probably benign	0.01
R8495:Nqo2	UTSW	13	34,165,477 (GRCm39)	missense	probably damaging	1.00
R8543:Nqo2	UTSW	13	34,169,297 (GRCm39)	critical splice acceptor site	probably null
R9211:Nqo2	UTSW	13	34,156,399 (GRCm39)	missense	probably benign	0.08
R9605:Nqo2	UTSW	13	34,156,361 (GRCm39)	missense	possibly damaging	0.89

Predicted Primers

PCR Primer
(F):5'- ACCTTTGCCTACTGGGTGCTATCG -3'
(R):5'- GGATGATTGTGCCATGAAGGTCAGC -3'

Sequencing Primer
(F):5'- ACTGGGTGCTATCGGAGGAG -3'
(R):5'- ATTAGTGTGGATGGATAACCCCC -3'

Posted On

2014-08-08