Mutagenetix > Incidental Mutation

Incidental Mutation 'R4110:Nqo2'

317269

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

040988-MU

Accession Numbers

Essential gene?

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

Stock #

R4110 (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 34163620 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 93 (Q93L)

Ref Sequence

ENSEMBL: ENSMUSP00000152294 (fasta)

Gene Model

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

AlphaFold

Q9JI75

Predicted Effect

probably benign
Transcript: ENSMUST00000021843
AA Change: Q93L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000021843
Gene: ENSMUSG00000046949
AA Change: Q93L

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: Q93L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000053809
Gene: ENSMUSG00000046949
AA Change: Q93L

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 benign
Transcript: ENSMUST00000222740
AA Change: Q93L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

probably benign
Transcript: ENSMUST00000223479
AA Change: Q93L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000220844
AA Change: Q49L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

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

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.3%
20x: 95.6%

Validation Efficiency

100% (61/61)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700012B07Rik	G	T	11: 109,684,980 (GRCm39)	C172*	probably null	Het
Acot10	A	T	15: 20,666,612 (GRCm39)	L43Q	probably damaging	Het
Alms1	G	A	6: 85,597,870 (GRCm39)	V1368I	probably benign	Het
Als2cl	T	C	9: 110,713,115 (GRCm39)	S2P	probably benign	Het
AW209491	T	C	13: 14,812,158 (GRCm39)	V337A	probably damaging	Het
Bace2	A	G	16: 97,237,856 (GRCm39)	T436A	probably benign	Het
BC023105	A	G	18: 60,575,356 (GRCm39)		noncoding transcript	Het
Blvra	T	C	2: 126,937,075 (GRCm39)	V176A	probably damaging	Het
Casp2	G	A	6: 42,244,828 (GRCm39)	A76T	probably damaging	Het
Ccdc88c	A	G	12: 100,911,332 (GRCm39)	L34P	probably damaging	Het
Cep250	G	A	2: 155,834,552 (GRCm39)	R2159K	probably damaging	Het
Col6a2	T	A	10: 76,442,003 (GRCm39)		probably null	Het
Cse1l	T	C	2: 166,783,970 (GRCm39)	Y488H	probably benign	Het
Dip2c	G	T	13: 9,687,137 (GRCm39)	G1254C	probably damaging	Het
Dnajb12	T	A	10: 59,730,136 (GRCm39)	S270R	possibly damaging	Het
Dnajc28	G	A	16: 91,413,755 (GRCm39)	T187M	probably damaging	Het
Dscaml1	G	A	9: 45,643,366 (GRCm39)	A1262T	probably benign	Het
Dtwd2	A	C	18: 49,831,373 (GRCm39)		probably benign	Het
Fadd	C	A	7: 144,134,488 (GRCm39)	K132N	possibly damaging	Het
Fndc3c1	T	C	X: 105,487,897 (GRCm39)	N462S	probably benign	Het
Fzd3	A	G	14: 65,472,616 (GRCm39)	V384A	probably benign	Het
Gm6370	T	C	5: 146,430,702 (GRCm39)	S296P	probably benign	Het
Gsdmc	T	A	15: 63,651,876 (GRCm39)	H245L	probably benign	Het
H13	T	C	2: 152,523,029 (GRCm39)	I114T	probably damaging	Het
Hhipl2	A	G	1: 183,204,920 (GRCm39)	R78G	probably benign	Het
Hrh3	C	A	2: 179,744,643 (GRCm39)	R99L	possibly damaging	Het
Ldc1	A	T	4: 130,112,967 (GRCm39)	L143Q	probably damaging	Het
Man2c1	A	G	9: 57,044,055 (GRCm39)	N330S	probably damaging	Het
Muc19	T	A	15: 91,781,816 (GRCm39)		noncoding transcript	Het
Myh14	T	G	7: 44,277,974 (GRCm39)	M1092L	probably benign	Het
Neb	A	G	2: 52,038,778 (GRCm39)	I2899T	probably benign	Het
Neb	T	A	2: 52,134,137 (GRCm39)	Q3282L	probably damaging	Het
Or13a18	T	A	7: 140,190,178 (GRCm39)	L33Q	possibly damaging	Het
Or13a18	C	A	7: 140,190,177 (GRCm39)	L33M	probably benign	Het
Or4a2	C	A	2: 89,248,444 (GRCm39)	L104F	probably benign	Het
Or51i2	T	C	7: 103,689,609 (GRCm39)	V202A	probably damaging	Het
Pcsk1	A	G	13: 75,244,488 (GRCm39)	N122S	probably damaging	Het
Pdzrn4	A	G	15: 92,668,745 (GRCm39)	I966V	probably benign	Het
Phldb1	G	A	9: 44,627,128 (GRCm39)	T439I	possibly damaging	Het
Pign	A	G	1: 105,481,540 (GRCm39)		probably benign	Het
Pkn1	A	T	8: 84,417,828 (GRCm39)	D120E	probably benign	Het
Ptpru	A	G	4: 131,546,348 (GRCm39)	Y301H	probably damaging	Het
Raly	C	T	2: 154,699,378 (GRCm39)	Q61*	probably null	Het
Rpl24	T	C	16: 55,791,723 (GRCm39)	V148A	probably benign	Het
S100a16	A	G	3: 90,449,379 (GRCm39)	N18S	probably damaging	Het
Sec31b	G	T	19: 44,512,968 (GRCm39)	T507N	possibly damaging	Het
Sgca	T	C	11: 94,863,396 (GRCm39)	T27A	possibly damaging	Het
Slc22a12	C	A	19: 6,590,658 (GRCm39)	R203L	probably damaging	Het
Ssbp3	C	A	4: 106,904,393 (GRCm39)		probably benign	Het
Sucnr1	C	G	3: 59,994,215 (GRCm39)	R248G	probably damaging	Het
Tbr1	C	T	2: 61,642,076 (GRCm39)	P184L	probably benign	Het
Thsd7b	A	T	1: 130,044,356 (GRCm39)	D1112V	probably benign	Het
Tnc	A	G	4: 63,933,188 (GRCm39)	V692A	probably damaging	Het
Top2a	C	A	11: 98,913,786 (GRCm39)	K18N	probably damaging	Het
Topbp1	G	T	9: 103,187,158 (GRCm39)	R121L	probably damaging	Het
Unc79	T	C	12: 103,025,629 (GRCm39)	C339R	probably damaging	Het
Wdfy3	C	T	5: 102,047,924 (GRCm39)		probably null	Het
Zbtb3	G	C	19: 8,780,384 (GRCm39)		probably benign	Het
Zfp715	T	A	7: 42,947,304 (GRCm39)	K885N	possibly 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
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'- CCTAAGGCTTTGGTGAGCTC -3'
(R):5'- ACTGCAGTAGGTAAGTGTTCTAACTAG -3'

Sequencing Primer
(F):5'- TTTGGTGAGCTCAGACCAC -3'
(R):5'- CAGTTCCAAAAGCAGTGTTC -3'

Posted On

2015-05-15