Mutagenetix > Incidental Mutation

Incidental Mutation 'R2239:Nfe2l2'

240519

Institutional Source

Beutler Lab

Gene Symbol

Nfe2l2

Ensembl Gene

ENSMUSG00000015839

Gene Name

nuclear factor, erythroid derived 2, like 2

Synonyms

Nrf2

MMRRC Submission

040239-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.872) question?

Stock #

R2239 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

75505857-75534985 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 75506898 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 401 (P401S)

Ref Sequence

ENSEMBL: ENSMUSP00000099733 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000102672]

AlphaFold

Q60795

PDB Structure

Structural basis for the defects of human lung cancer somatic mutations in the repression activity of Keap1 on Nrf2 [X-RAY DIFFRACTION]
Crystal structure of the Keap1 protein in complexed with the N-terminal region of the Nrf2 transcription factor [X-RAY DIFFRACTION]
Crystal Structure of Keap1 in Complex with the N-terminal region of the Nrf2 transcription factor [X-RAY DIFFRACTION]

Predicted Effect

probably benign
Transcript: ENSMUST00000102672
AA Change: P401S

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000099733
Gene: ENSMUSG00000015839
AA Change: P401S

Domain	Start	End	E-Value	Type
PDB:3WN7\|M	17	42	8e-10	PDB
low complexity region	43	68	N/A	INTRINSIC
BRLZ	487	551	6.46e-9	SMART

Meta Mutation Damage Score

0.0637

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.9%

Validation Efficiency

94% (68/72)

MGI Phenotype

FUNCTION: This gene encodes a transcription factor which is a member of a small family of basic leucine zipper (bZIP) proteins. The encoded transcription factor regulates genes which contain antioxidant response elements (ARE) in their promoters; many of these genes encode proteins involved in response to injury and inflammation which includes the production of free radicals. [provided by RefSeq, Sep 2015]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased sensitivity to oxidative stress in a variety of organs and cells including brain, liver, erythrocytes, and spleen, abnormal tooth enamel, and abnormal response to various injuries, chemical treatments, and induced inflammatory diseases. [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
Adam18	T	C	8: 25,136,303 (GRCm39)	E406G	probably benign	Het
Ago3	G	A	4: 126,262,315 (GRCm39)	R412C	probably damaging	Het
Arhgap36	G	T	X: 48,582,282 (GRCm39)	V60L	possibly damaging	Het
Arl10	G	T	13: 54,722,962 (GRCm39)	V19L	probably benign	Het
Aspm	T	A	1: 139,384,584 (GRCm39)	I127K	possibly damaging	Het
Atp8b3	A	G	10: 80,366,822 (GRCm39)	C259R	probably damaging	Het
Camk2g	A	G	14: 20,789,455 (GRCm39)	I205T	probably damaging	Het
Ccdc47	G	T	11: 106,092,960 (GRCm39)	N100K	possibly damaging	Het
Cd200r4	T	A	16: 44,641,260 (GRCm39)	M1K	probably null	Het
Cdc37	G	A	9: 21,053,829 (GRCm39)	Q176*	probably null	Het
Cdh5	C	A	8: 104,852,304 (GRCm39)	H140N	possibly damaging	Het
Cep128	T	C	12: 91,314,341 (GRCm39)	T146A	probably benign	Het
Cnnm4	T	A	1: 36,544,759 (GRCm39)	S673T	probably benign	Het
Cnot1	T	C	8: 96,496,149 (GRCm39)	I342V	probably benign	Het
Cog8	C	A	8: 107,782,993 (GRCm39)	G99W	probably damaging	Het
Dars2	T	C	1: 160,890,852 (GRCm39)	T120A	possibly damaging	Het
Dnah7b	C	A	1: 46,240,344 (GRCm39)		probably benign	Het
Emilin2	T	A	17: 71,617,219 (GRCm39)	Q64L	probably benign	Het
Eomes	A	G	9: 118,311,359 (GRCm39)	D394G	probably damaging	Het
Epn1	A	G	7: 5,100,601 (GRCm39)	N518S	probably damaging	Het
Exoc1	T	C	5: 76,707,557 (GRCm39)		probably benign	Het
Fam186a	C	T	15: 99,852,745 (GRCm39)	V158M	unknown	Het
Fryl	A	G	5: 73,265,890 (GRCm39)	L477P	probably damaging	Het
Gbf1	T	C	19: 46,152,057 (GRCm39)	I30T	probably benign	Het
Hsd17b1	A	T	11: 100,969,289 (GRCm39)	I8F	probably damaging	Het
Htatsf1	G	T	X: 56,111,864 (GRCm39)	D642Y	unknown	Het
Ift88	A	G	14: 57,692,961 (GRCm39)	I387V	probably damaging	Het
Kcnh5	T	A	12: 75,054,493 (GRCm39)	M484L	probably benign	Het
Kdm1b	T	A	13: 47,227,231 (GRCm39)	F574L	probably damaging	Het
Kdm6a	T	C	X: 18,065,476 (GRCm39)	F104S	probably damaging	Het
Kntc1	T	C	5: 123,941,733 (GRCm39)	V1809A	possibly damaging	Het
Lgr4	T	C	2: 109,842,738 (GRCm39)	Y908H	probably damaging	Het
Ltbp3	C	A	19: 5,801,551 (GRCm39)	C698*	probably null	Het
Map3k1	A	C	13: 111,885,478 (GRCm39)	S1480A	probably benign	Het
Map7	A	T	10: 20,154,028 (GRCm39)	N715Y	unknown	Het
Morn4	A	G	19: 42,066,471 (GRCm39)	Y39H	possibly damaging	Het
Myh14	A	T	7: 44,314,607 (GRCm39)	D105E	probably damaging	Het
Nfasc	T	C	1: 132,510,760 (GRCm39)		probably benign	Het
Nt5c1b	C	A	12: 10,425,558 (GRCm39)	T309K	probably damaging	Het
Or10v5	T	C	19: 11,805,814 (GRCm39)	D192G	probably damaging	Het
Or2aa1	A	G	11: 59,480,097 (GRCm39)	S273P	possibly damaging	Het
Or5ac23	T	A	16: 59,149,738 (GRCm39)	I45F	probably damaging	Het
Or5b109	T	C	19: 13,212,085 (GRCm39)	V157A	probably benign	Het
Or5l13	T	C	2: 87,779,741 (GRCm39)	T279A	probably damaging	Het
P4hb	A	G	11: 120,454,108 (GRCm39)	Y329H	probably damaging	Het
Papolg	A	G	11: 23,826,378 (GRCm39)	Y259H	probably damaging	Het
Pcgf5	A	T	19: 36,414,754 (GRCm39)	N105I	probably damaging	Het
Pde4a	G	A	9: 21,122,564 (GRCm39)	C820Y	probably damaging	Het
Phka2	A	G	X: 159,324,408 (GRCm39)	E254G	probably damaging	Het
Phrf1	A	G	7: 140,817,605 (GRCm39)	E138G	probably damaging	Het
Rgs3	A	T	4: 62,544,124 (GRCm39)	T299S	probably benign	Het
Skint5	G	A	4: 113,403,733 (GRCm39)	T1163I	unknown	Het
Slc16a8	T	C	15: 79,137,147 (GRCm39)	M88V	probably damaging	Het
Slc35f4	A	G	14: 49,543,660 (GRCm39)		probably null	Het
Smr2l	T	G	5: 88,430,413 (GRCm39)	M103R	probably benign	Het
Spata4	A	C	8: 55,055,664 (GRCm39)	K185T	probably benign	Het
Spin2c	A	G	X: 152,616,672 (GRCm39)	I162V	probably damaging	Het
Stac	G	A	9: 111,519,190 (GRCm39)		probably benign	Het
Tet1	T	C	10: 62,715,513 (GRCm39)	D94G	probably benign	Het
Tnfsf11	A	T	14: 78,537,421 (GRCm39)	S81T	possibly damaging	Het
Topaz1	C	T	9: 122,600,212 (GRCm39)	T984I	probably benign	Het
Trmt5	A	G	12: 73,331,888 (GRCm39)	I4T	probably benign	Het
Ttc7b	A	G	12: 100,321,260 (GRCm39)		probably null	Het
Ugcg	C	T	4: 59,207,798 (GRCm39)	P46S	probably benign	Het
Ush2a	C	A	1: 188,308,411 (GRCm39)	T2020K	probably benign	Het
Zan	G	A	5: 137,456,099 (GRCm39)	Q1354*	probably null	Het
Zpld2	A	C	4: 133,929,516 (GRCm39)	M263R	unknown	Het

Other mutations in Nfe2l2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00807:Nfe2l2	APN	2	75,509,757 (GRCm39)	missense	probably damaging	1.00
IGL00931:Nfe2l2	APN	2	75,506,342 (GRCm39)	missense	probably damaging	1.00
IGL02207:Nfe2l2	APN	2	75,508,869 (GRCm39)	missense	probably damaging	1.00
IGL03356:Nfe2l2	APN	2	75,509,544 (GRCm39)	missense	probably benign	0.00
Scarlett	UTSW	2	75,509,757 (GRCm39)	missense	probably damaging	1.00
R0582:Nfe2l2	UTSW	2	75,507,112 (GRCm39)	missense	probably damaging	1.00
R0782:Nfe2l2	UTSW	2	75,507,177 (GRCm39)	missense	probably benign	0.12
R1139:Nfe2l2	UTSW	2	75,507,230 (GRCm39)	missense	probably benign	0.00
R2237:Nfe2l2	UTSW	2	75,506,898 (GRCm39)	missense	probably benign	0.03
R4365:Nfe2l2	UTSW	2	75,509,772 (GRCm39)	missense	probably damaging	1.00
R5240:Nfe2l2	UTSW	2	75,506,353 (GRCm39)	missense	possibly damaging	0.63
R5328:Nfe2l2	UTSW	2	75,507,200 (GRCm39)	missense	probably damaging	1.00
R5666:Nfe2l2	UTSW	2	75,507,462 (GRCm39)	missense	probably benign	0.01
R5670:Nfe2l2	UTSW	2	75,507,462 (GRCm39)	missense	probably benign	0.01
R6142:Nfe2l2	UTSW	2	75,509,761 (GRCm39)	missense	probably damaging	0.99
R6315:Nfe2l2	UTSW	2	75,507,163 (GRCm39)	missense	probably damaging	1.00
R6520:Nfe2l2	UTSW	2	75,506,912 (GRCm39)	missense	probably benign	0.00
R7621:Nfe2l2	UTSW	2	75,509,757 (GRCm39)	missense	probably damaging	1.00
R8110:Nfe2l2	UTSW	2	75,509,765 (GRCm39)	missense	probably benign	0.03
R9748:Nfe2l2	UTSW	2	75,506,667 (GRCm39)	missense	probably damaging	1.00
Z1176:Nfe2l2	UTSW	2	75,509,508 (GRCm39)	missense	probably null	0.68
Z1177:Nfe2l2	UTSW	2	75,507,123 (GRCm39)	missense	possibly damaging	0.92

Predicted Primers

PCR Primer
(F):5'- GCTTCATTGAATTGCTCCTTGG -3'
(R):5'- TCACTGAACACGAGTCCCAG -3'

Sequencing Primer
(F):5'- GCTCCTTGGACATCATTTCATTGAAG -3'
(R):5'- GAACACGAGTCCCAGCCGAG -3'

Posted On

2014-10-15