Mutagenetix > Incidental Mutation

Incidental Mutation 'R5670:Nfe2l2'

442551

Institutional Source

Beutler Lab

Gene Symbol

Nfe2l2

Ensembl Gene

ENSMUSG00000015839

Gene Name

nuclear factor, erythroid derived 2, like 2

Synonyms

Nrf2

MMRRC Submission

043313-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.872) question?

Stock #

R5670 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

75505857-75534985 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 75507462 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 213 (T213A)

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: T213A

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000099733
Gene: ENSMUSG00000015839
AA Change: T213A

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: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930524J08Rik	T	C	5: 100,127,068 (GRCm39)		probably benign	Het
Ahsg	T	A	16: 22,716,913 (GRCm39)	N158K	probably benign	Het
Arhgef10	T	C	8: 15,004,774 (GRCm39)	M430T	probably benign	Het
Becn2	C	T	1: 175,749,179 (GRCm39)	T415M	probably damaging	Het
Bmper	T	A	9: 23,384,759 (GRCm39)	M588K	probably damaging	Het
Btla	A	T	16: 45,070,782 (GRCm39)	D247V	probably damaging	Het
Cap2	T	A	13: 46,684,559 (GRCm39)		probably null	Het
Chd2	A	T	7: 73,091,465 (GRCm39)	I1592K	probably benign	Het
Col4a4	A	G	1: 82,463,300 (GRCm39)		probably null	Het
Copg1	C	T	6: 87,889,217 (GRCm39)	T853M	probably damaging	Het
Ddb2	C	T	2: 91,042,926 (GRCm39)	V353M	probably damaging	Het
Dip2b	A	G	15: 100,087,985 (GRCm39)	D973G	possibly damaging	Het
Dscam	G	A	16: 96,519,364 (GRCm39)	T791I	probably benign	Het
Dtd2	T	A	12: 52,046,643 (GRCm39)	L65F	probably damaging	Het
Fer1l6	C	T	15: 58,494,331 (GRCm39)	P1175S	probably benign	Het
Fzd6	A	T	15: 38,894,510 (GRCm39)	R225S	probably benign	Het
Glce	A	G	9: 61,967,793 (GRCm39)	S453P	probably damaging	Het
Gm4787	G	A	12: 81,424,805 (GRCm39)	T451I	probably benign	Het
Igkv8-18	C	T	6: 70,333,133 (GRCm39)	T25I	probably benign	Het
Ikzf2	A	G	1: 69,617,059 (GRCm39)	V96A	probably benign	Het
Ilkap	T	C	1: 91,318,863 (GRCm39)	T38A	probably benign	Het
Lpin3	A	G	2: 160,739,250 (GRCm39)	T353A	probably benign	Het
Mfsd8	A	T	3: 40,776,484 (GRCm39)	N389K	probably benign	Het
Mttp	A	T	3: 137,830,874 (GRCm39)	V65D	probably damaging	Het
Ndufaf4	A	T	4: 24,898,636 (GRCm39)	D64V	probably damaging	Het
Nkain4	A	G	2: 180,584,995 (GRCm39)	L73P	probably damaging	Het
Nwd1	T	A	8: 73,419,745 (GRCm39)	S977T	probably damaging	Het
Or1l4	T	A	2: 37,092,006 (GRCm39)	V251D	probably benign	Het
Or2y1d	T	G	11: 49,322,035 (GRCm39)	L244R	probably damaging	Het
Or4b12	T	C	2: 90,096,308 (GRCm39)	I155M	probably benign	Het
Or5k1	G	A	16: 58,617,424 (GRCm39)	P262S	possibly damaging	Het
Pdgfra	T	C	5: 75,334,156 (GRCm39)	S410P	probably benign	Het
Phldb1	T	C	9: 44,627,078 (GRCm39)	M456V	probably damaging	Het
Pi16	C	T	17: 29,545,870 (GRCm39)	T216I	probably damaging	Het
Plekha2	C	A	8: 25,549,254 (GRCm39)	A177S	probably benign	Het
Pramel29	A	G	4: 143,936,192 (GRCm39)	S23P	probably benign	Het
Prss16	C	T	13: 22,187,221 (GRCm39)	V450I	possibly damaging	Het
Rab3gap2	T	A	1: 185,009,402 (GRCm39)	L1086H	probably damaging	Het
Rab3gap2	C	T	1: 184,954,096 (GRCm39)	P56L	probably benign	Het
Rgs21	A	G	1: 144,412,680 (GRCm39)	V48A	probably benign	Het
Rnd2	C	T	11: 101,359,825 (GRCm39)	L57F	probably damaging	Het
Rnf213	A	G	11: 119,325,512 (GRCm39)		probably null	Het
Slc4a2	G	T	5: 24,639,836 (GRCm39)	V506L	probably damaging	Het
Sptbn5	C	G	2: 119,916,048 (GRCm39)		probably benign	Het
Steap2	C	T	5: 5,723,681 (GRCm39)	V400I	probably benign	Het
Syne2	G	A	12: 75,997,733 (GRCm39)	G2236D	probably benign	Het
Tespa1	T	C	10: 130,190,624 (GRCm39)	S84P	probably damaging	Het
Tlx2	G	A	6: 83,046,807 (GRCm39)	A85V	possibly damaging	Het
Tm4sf1	A	T	3: 57,200,508 (GRCm39)	F65I	probably benign	Het
Tmprss13	A	G	9: 45,256,253 (GRCm39)	I456V	probably damaging	Het
Tpte	C	T	8: 22,817,764 (GRCm39)	S250F	probably damaging	Het
Trim24	T	C	6: 37,942,536 (GRCm39)	F946S	probably benign	Het
Vmn2r10	A	T	5: 109,146,910 (GRCm39)	Y459*	probably null	Het
Vps54	T	A	11: 21,214,864 (GRCm39)	I112N	probably damaging	Het
Vwa1	A	G	4: 155,858,922 (GRCm39)	L13P	probably damaging	Het
Zfp648	C	A	1: 154,079,963 (GRCm39)	Q41K	probably benign	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
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'- GCCAAAATCTGTGTTTAAGGTGG -3'
(R):5'- GAGCTTCCCAGACTCACTTAAC -3'

Sequencing Primer
(F):5'- GGATTTGAGTCTAAGGAGGTCAGC -3'
(R):5'- ACTGAAAGCTAATTTAGAGTTCTGAC -3'

Posted On

2016-11-09