Mutagenetix > Incidental Mutation

Incidental Mutation 'R5861:Nqo2'

453933

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

044073-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.094) question?

Stock #

R5861 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

34148670-34172426 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 34156413 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 42 (L42F)

Ref Sequence

ENSEMBL: ENSMUSP00000152598 (fasta)

Gene Model

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

AlphaFold

Q9JI75

Predicted Effect

probably damaging
Transcript: ENSMUST00000021843
AA Change: L42F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000021843
Gene: ENSMUSG00000046949
AA Change: L42F

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 damaging
Transcript: ENSMUST00000058978
AA Change: L42F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000053809
Gene: ENSMUSG00000046949
AA Change: L42F

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

probably damaging
Transcript: ENSMUST00000222740
AA Change: L42F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000223479
AA Change: L42F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000220844

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

0.6467

Coding Region Coverage

1x: 99.9%
3x: 99.4%
10x: 97.3%
20x: 91.3%

Validation Efficiency

98% (81/83)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc5	G	T	16: 20,218,644 (GRCm39)	T246N	probably damaging	Het
Aopep	A	G	13: 63,446,626 (GRCm39)	D143G	probably damaging	Het
Arhgap10	C	T	8: 78,037,393 (GRCm39)	A612T	probably damaging	Het
Arsg	T	A	11: 109,454,014 (GRCm39)	F407I	probably damaging	Het
Asxl1	C	A	2: 153,241,310 (GRCm39)	A620D	probably damaging	Het
C2cd3	A	G	7: 100,093,682 (GRCm39)		probably benign	Het
Chn2	G	A	6: 54,267,359 (GRCm39)	V92I	probably damaging	Het
Cog2	T	C	8: 125,264,617 (GRCm39)	F332S	probably damaging	Het
Crhbp	G	A	13: 95,580,333 (GRCm39)	A82V	probably damaging	Het
Cyp2j6	A	G	4: 96,434,040 (GRCm39)	V90A	possibly damaging	Het
Dennd4c	A	T	4: 86,709,589 (GRCm39)	M397L	probably benign	Het
Dnajb8	A	G	6: 88,200,088 (GRCm39)	D208G	possibly damaging	Het
Ecm1	G	C	3: 95,643,909 (GRCm39)	L230V	probably damaging	Het
Ercc2	G	C	7: 19,128,066 (GRCm39)	A696P	possibly damaging	Het
Fkbpl	G	A	17: 34,864,303 (GRCm39)	A24T	probably benign	Het
Gm13035	A	G	4: 146,009,859 (GRCm39)		noncoding transcript	Het
Gm28042	T	C	2: 119,865,116 (GRCm39)	V247A	probably damaging	Het
Gm28455	T	A	7: 39,148,003 (GRCm39)		noncoding transcript	Het
Gpr150	A	T	13: 76,204,192 (GRCm39)	V251D	possibly damaging	Het
Grip1	C	T	10: 119,765,875 (GRCm39)	S69L	probably damaging	Het
Hs6st3	A	G	14: 119,376,265 (GRCm39)	I147V	possibly damaging	Het
Il5	G	A	11: 53,614,743 (GRCm39)	E102K	probably benign	Het
Kif1c	T	C	11: 70,594,621 (GRCm39)	F94L	probably damaging	Het
Lrrc63	T	C	14: 75,344,806 (GRCm39)	E427G	possibly damaging	Het
Man1b1	A	G	2: 25,238,066 (GRCm39)	T384A	probably benign	Het
Mapk15	C	A	15: 75,868,208 (GRCm39)		probably benign	Het
Mfsd10	T	C	5: 34,791,588 (GRCm39)		probably benign	Het
Mgat5	C	A	1: 127,315,129 (GRCm39)	A285E	probably damaging	Het
Mroh4	T	A	15: 74,478,456 (GRCm39)		probably benign	Het
Myf5	A	T	10: 107,320,069 (GRCm39)	C194S	probably benign	Het
Myh7	A	G	14: 55,226,347 (GRCm39)	V431A	possibly damaging	Het
Nadsyn1	A	C	7: 143,364,964 (GRCm39)	M247R	possibly damaging	Het
Nipsnap3b	A	G	4: 53,021,177 (GRCm39)	D166G	probably damaging	Het
Nt5dc3	A	T	10: 86,651,738 (GRCm39)	D180V	probably damaging	Het
Numa1	C	A	7: 101,658,494 (GRCm39)		probably null	Het
Olfm3	T	A	3: 114,916,052 (GRCm39)	L328Q	probably damaging	Het
Or4e1	T	C	14: 52,700,953 (GRCm39)	Y171C	probably damaging	Het
Or5w17	A	T	2: 87,583,922 (GRCm39)	N138K	probably benign	Het
Or7a37	A	T	10: 78,805,765 (GRCm39)	Y94F	probably damaging	Het
Papolb	T	C	5: 142,514,992 (GRCm39)	N217S	possibly damaging	Het
Pcmtd2	C	A	2: 181,484,268 (GRCm39)	T26K	probably damaging	Het
Pld5	T	G	1: 175,917,571 (GRCm39)	N59H	probably damaging	Het
Ppm1d	T	C	11: 85,202,674 (GRCm39)	S126P	possibly damaging	Het
Ppp1r21	T	C	17: 88,889,937 (GRCm39)	L727P	probably damaging	Het
Pramel20	G	T	4: 143,297,810 (GRCm39)	V77L	probably benign	Het
Prpsap2	C	T	11: 61,627,870 (GRCm39)	R202H	probably damaging	Het
Rara	T	A	11: 98,858,987 (GRCm39)	C148*	probably null	Het
Rexo2	A	T	9: 48,386,481 (GRCm39)	I83N	probably damaging	Het
Rnf213	A	G	11: 119,364,203 (GRCm39)	R4501G	probably damaging	Het
Rps5	T	A	7: 12,659,501 (GRCm39)	F97L	probably damaging	Het
Sigirr	G	A	7: 140,671,292 (GRCm39)	R397W	probably damaging	Het
Slc6a6	T	C	6: 91,718,014 (GRCm39)	Y318H	probably damaging	Het
Spam1	A	G	6: 24,796,570 (GRCm39)	T174A	probably benign	Het
Stam2	G	T	2: 52,632,116 (GRCm39)		probably benign	Het
Taar7a	T	C	10: 23,868,337 (GRCm39)	E348G	probably benign	Het
Taf11	T	C	17: 28,120,644 (GRCm39)	T209A	probably benign	Het
Tenm4	A	G	7: 96,492,424 (GRCm39)		probably benign	Het
Tmed6	G	T	8: 107,790,786 (GRCm39)	T87K	probably damaging	Het
Trim5	G	T	7: 103,928,726 (GRCm39)	H72N	probably benign	Het
Trim5	A	C	7: 103,928,728 (GRCm39)	L71R	probably benign	Het
Uevld	A	T	7: 46,576,104 (GRCm39)	S461T	probably benign	Het
Vmn2r6	T	A	3: 64,463,454 (GRCm39)	N460I	probably benign	Het
Ylpm1	C	T	12: 85,087,660 (GRCm39)	P1148L	probably damaging	Het
Zfp316	T	C	5: 143,249,095 (GRCm39)	Y180C	unknown	Het
Zfp941	A	G	7: 140,392,052 (GRCm39)	S436P	probably damaging	Het
Zfp979	G	A	4: 147,697,966 (GRCm39)	Q248*	probably null	Het
Zscan29	G	T	2: 120,994,518 (GRCm39)	T489N	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
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
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'- CTAGCCTGCACTGGGTTTTG -3'
(R):5'- GTCACTGACCTAGAACCGCAAG -3'

Sequencing Primer
(F):5'- CTGCACTGGGTTTTGGCAAAAAG -3'
(R):5'- CTGAATAAATCCATCCTCAAGTTAGC -3'

Posted On

2017-02-10