Mutagenetix > Incidental Mutation

Incidental Mutation 'R6315:Nfe2l2'

510568

Institutional Source

Beutler Lab

Gene Symbol

Nfe2l2

Ensembl Gene

ENSMUSG00000015839

Gene Name

nuclear factor, erythroid derived 2, like 2

Synonyms

Nrf2

MMRRC Submission

044472-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.872) question?

Stock #

R6315 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

75505857-75534985 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 75507163 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 312 (D312E)

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 damaging
Transcript: ENSMUST00000102672
AA Change: D312E

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

SMART Domains

Protein: ENSMUSP00000099733
Gene: ENSMUSG00000015839
AA Change: D312E

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

97% (64/66)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	T	C	7: 119,945,315 (GRCm39)	Y464H	probably damaging	Het
Ahnak	T	C	19: 8,983,990 (GRCm39)	M1758T	probably damaging	Het
Ak9	A	T	10: 41,282,837 (GRCm39)	D1201V	possibly damaging	Het
Amdhd2	A	C	17: 24,377,330 (GRCm39)	H203Q	probably benign	Het
Ano3	A	G	2: 110,527,384 (GRCm39)	M608T	probably damaging	Het
Arhgef4	G	A	1: 34,762,558 (GRCm39)	A605T	unknown	Het
Atp1a2	C	G	1: 172,116,903 (GRCm39)	R238P	probably damaging	Het
Atp8b1	C	A	18: 64,664,550 (GRCm39)	R1206L	probably damaging	Het
B4galt5	A	T	2: 167,147,729 (GRCm39)	N215K	probably damaging	Het
Bpifa1	A	G	2: 153,987,996 (GRCm39)	K180E	possibly damaging	Het
Cadm1	C	T	9: 47,721,417 (GRCm39)	T269M	probably damaging	Het
Cadm3	T	C	1: 173,171,919 (GRCm39)	D252G	probably benign	Het
Ccdc18	A	G	5: 108,309,448 (GRCm39)	R348G	probably benign	Het
Cers4	G	A	8: 4,566,980 (GRCm39)	C94Y	probably benign	Het
Cfap58	G	A	19: 47,929,716 (GRCm39)	R59H	probably benign	Het
Col19a1	C	T	1: 24,565,533 (GRCm39)	G266D	unknown	Het
Col6a5	G	T	9: 105,759,169 (GRCm39)	F2012L	probably damaging	Het
Dnah6	T	C	6: 73,168,588 (GRCm39)	Q445R	probably benign	Het
Dsg3	A	G	18: 20,657,643 (GRCm39)	S238G	probably benign	Het
E130308A19Rik	G	A	4: 59,691,132 (GRCm39)	S322N	probably benign	Het
Eif5b	A	G	1: 38,057,114 (GRCm39)	D57G	unknown	Het
Fbn2	T	C	18: 58,188,025 (GRCm39)		probably null	Het
Fbxo38	A	T	18: 62,669,218 (GRCm39)	C77*	probably null	Het
Fgb	T	A	3: 82,952,362 (GRCm39)	Q169L	probably benign	Het
Fut9	A	T	4: 25,619,774 (GRCm39)	Y347N	probably damaging	Het
Gabrg2	T	C	11: 41,862,688 (GRCm39)	K132R	probably damaging	Het
Gpn3	C	T	5: 122,510,638 (GRCm39)		probably benign	Het
Helz2	A	G	2: 180,874,995 (GRCm39)	L1833P	probably damaging	Het
Hk3	C	T	13: 55,158,970 (GRCm39)	D484N	probably benign	Het
Icam4	T	C	9: 20,941,248 (GRCm39)	V129A	probably damaging	Het
Impdh2	T	C	9: 108,440,638 (GRCm39)	S280P	possibly damaging	Het
Impg1	C	A	9: 80,301,356 (GRCm39)	G267V	probably benign	Het
Iqgap1	C	T	7: 80,449,638 (GRCm39)	V39M	possibly damaging	Het
Lyst	A	G	13: 13,818,089 (GRCm39)	N1253S	probably benign	Het
Mgat4b	T	A	11: 50,122,591 (GRCm39)	V195E	probably damaging	Het
Mrgprb8	C	T	7: 48,038,983 (GRCm39)	T218I	probably damaging	Het
Myrfl	T	G	10: 116,658,724 (GRCm39)	E411A	possibly damaging	Het
Myt1l	T	C	12: 29,877,797 (GRCm39)	S483P	unknown	Het
Neil2	A	G	14: 63,420,920 (GRCm39)	V80A	possibly damaging	Het
Nin	A	T	12: 70,092,389 (GRCm39)	L640Q	probably damaging	Het
Nup205	T	A	6: 35,213,804 (GRCm39)	I1732N	probably damaging	Het
Nup42	T	C	5: 24,372,502 (GRCm39)	S97P	probably damaging	Het
Or5b114-ps1	T	C	19: 13,352,769 (GRCm39)	C148R	unknown	Het
Or5k16	A	C	16: 58,736,609 (GRCm39)	Y132D	probably damaging	Het
Plcb1	A	T	2: 135,188,261 (GRCm39)	T785S	probably benign	Het
Plch1	C	T	3: 63,688,811 (GRCm39)	W131*	probably null	Het
Ppp1r1b	A	G	11: 98,246,216 (GRCm39)	E66G	probably damaging	Het
Ros1	A	T	10: 51,994,306 (GRCm39)	W1325R	probably benign	Het
Sec14l5	A	C	16: 4,998,141 (GRCm39)	E500A	possibly damaging	Het
Sirpb1c	A	G	3: 15,886,470 (GRCm39)	V302A	possibly damaging	Het
Spata19	T	C	9: 27,312,133 (GRCm39)	Y107H	possibly damaging	Het
Sv2a	G	A	3: 96,095,502 (GRCm39)	M298I	probably benign	Het
Tdrd6	A	T	17: 43,937,229 (GRCm39)	M1273K	probably benign	Het
Tectb	A	G	19: 55,179,904 (GRCm39)	H250R	possibly damaging	Het
Trip11	T	G	12: 101,851,837 (GRCm39)	E742D	possibly damaging	Het
Tslp	A	G	18: 32,950,143 (GRCm39)	T71A	probably benign	Het
Usp20	C	T	2: 30,907,770 (GRCm39)	R711C	possibly damaging	Het
Vmn1r181	G	A	7: 23,684,183 (GRCm39)	R216Q	probably benign	Het
Vmn2r8	A	T	5: 108,949,757 (GRCm39)	F363L	probably benign	Het
Vsnl1	T	A	12: 11,382,156 (GRCm39)	N75I	probably damaging	Het
Wdr55	A	T	18: 36,895,122 (GRCm39)	D96V	probably damaging	Het
Wls	T	A	3: 159,640,007 (GRCm39)		probably null	Het
Zc3h13	A	G	14: 75,546,355 (GRCm39)	D152G	probably damaging	Het
Zc3h18	A	G	8: 123,110,604 (GRCm39)	E151G	probably benign	Het
Zfat	A	G	15: 67,956,311 (GRCm39)	S1174P	probably damaging	Het
Zfyve9	T	A	4: 108,531,685 (GRCm39)	T416S	probably damaging	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
R2239: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
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'- AGGGCCGTTCTGTTTGACAC -3'
(R):5'- CTCTCCACTGATGATGCCAG -3'

Sequencing Primer
(F):5'- ACTTCCAGGGGCACTATCTAG -3'
(R):5'- TGATGATGCCAGCCAGCTG -3'

Posted On

2018-04-02