Mutagenetix > Incidental Mutation

Incidental Mutation 'R7573:Nfkb2'

586196

Institutional Source

Beutler Lab

Gene Symbol

Nfkb2

Ensembl Gene

ENSMUSG00000025225

Gene Name

nuclear factor of kappa light polypeptide gene enhancer in B cells 2, p49/p100

Synonyms

p52, NF kappaB2

MMRRC Submission

045659-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.586) question?

Stock #

R7573 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

46292759-46300824 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 46297082 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 336 (Q336K)

Ref Sequence

ENSEMBL: ENSMUSP00000072859 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041391] [ENSMUST00000073116] [ENSMUST00000096029] [ENSMUST00000111881] [ENSMUST00000224556] [ENSMUST00000225323]

AlphaFold

Q9WTK5

PDB Structure

Crystal structure of the dimerization domains p52 homodimer [X-RAY DIFFRACTION]
Crystal structure of the dimerization domains p52 and RelB [X-RAY DIFFRACTION]

Predicted Effect

probably benign
Transcript: ENSMUST00000041391

SMART Domains

Protein: ENSMUSP00000039728
Gene: ENSMUSG00000037126

Domain	Start	End	E-Value	Type
low complexity region	48	63	N/A	INTRINSIC
low complexity region	79	99	N/A	INTRINSIC
low complexity region	329	368	N/A	INTRINSIC
low complexity region	419	431	N/A	INTRINSIC
low complexity region	445	466	N/A	INTRINSIC
Sec7	519	708	5.08e-75	SMART
low complexity region	714	724	N/A	INTRINSIC
low complexity region	736	744	N/A	INTRINSIC
PH	757	871	1.87e-13	SMART
Blast:Sec7	900	952	1e-6	BLAST

Predicted Effect

possibly damaging
Transcript: ENSMUST00000073116
AA Change: Q336K

PolyPhen 2 Score 0.644 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000072859
Gene: ENSMUSG00000025225
AA Change: Q336K

Domain	Start	End	E-Value	Type
Pfam:RHD_DNA_bind	40	220	1.3e-67	PFAM
IPT	227	326	3.48e-27	SMART
low complexity region	351	382	N/A	INTRINSIC
low complexity region	391	409	N/A	INTRINSIC
ANK	487	522	5.58e1	SMART
ANK	526	555	9.78e-4	SMART
ANK	559	591	3.74e0	SMART
ANK	599	628	3.36e-2	SMART
ANK	633	663	1.3e1	SMART
ANK	667	696	4.26e-4	SMART
low complexity region	707	721	N/A	INTRINSIC
ANK	729	758	2.35e3	SMART
DEATH	764	851	5.52e-16	SMART
low complexity region	879	894	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000096029

SMART Domains

Protein: ENSMUSP00000093729
Gene: ENSMUSG00000037126

Domain	Start	End	E-Value	Type
low complexity region	48	63	N/A	INTRINSIC
low complexity region	79	99	N/A	INTRINSIC
low complexity region	329	368	N/A	INTRINSIC
low complexity region	419	431	N/A	INTRINSIC
low complexity region	445	466	N/A	INTRINSIC
Sec7	520	709	5.08e-75	SMART
low complexity region	715	725	N/A	INTRINSIC
low complexity region	737	745	N/A	INTRINSIC
PH	758	872	1.87e-13	SMART
Blast:Sec7	901	953	1e-6	BLAST

Predicted Effect

possibly damaging
Transcript: ENSMUST00000111881
AA Change: Q336K

PolyPhen 2 Score 0.644 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000107512
Gene: ENSMUSG00000025225
AA Change: Q336K

Domain	Start	End	E-Value	Type
Pfam:RHD	40	220	1.3e-67	PFAM
IPT	227	326	3.48e-27	SMART
low complexity region	351	382	N/A	INTRINSIC
low complexity region	391	409	N/A	INTRINSIC
ANK	487	522	5.58e1	SMART
ANK	526	555	9.78e-4	SMART
ANK	559	591	3.74e0	SMART
ANK	599	628	3.36e-2	SMART
ANK	633	663	1.3e1	SMART
ANK	667	696	4.26e-4	SMART
low complexity region	707	721	N/A	INTRINSIC
ANK	729	758	2.35e3	SMART
DEATH	764	851	5.52e-16	SMART
low complexity region	879	894	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000224556

Predicted Effect

probably benign
Transcript: ENSMUST00000225323

Meta Mutation Damage Score

0.0633

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

99% (80/81)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a subunit of the transcription factor complex nuclear factor-kappa-B (NFkB). The NFkB complex is expressed in numerous cell types and functions as a central activator of genes involved in inflammation and immune function. The protein encoded by this gene can function as both a transcriptional activator or repressor depending on its dimerization partner. The p100 full-length protein is co-translationally processed into a p52 active form. Chromosomal rearrangements and translocations of this locus have been observed in B cell lymphomas, some of which may result in the formation of fusion proteins. There is a pseudogene for this gene on chromosome 18. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]
PHENOTYPE: Homozygotes for targeted null mutations exhibit gastric hyperplasia, enlarged lymph nodes, enhanced cytokine production by activated T cells, absence of Peyer's patches, increased susceptibility to Leishmania major, and early postnatal mortality. [provided by MGI curators]

Allele List at MGI

All alleles(7) : Targeted, knock-out(5) Chemically induced(2)

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003H04Rik	T	A	3: 124,366,917 (GRCm39)	I49F		Het
1810055G02Rik	T	A	19: 3,765,728 (GRCm39)	M1K	probably null	Het
Abcb1b	G	A	5: 8,878,866 (GRCm39)	C750Y	possibly damaging	Het
Abi2	T	A	1: 60,509,867 (GRCm39)	V412D	probably benign	Het
Alk	C	T	17: 72,207,787 (GRCm39)	V983M	probably damaging	Het
Alppl2	A	T	1: 87,015,953 (GRCm39)	W266R	possibly damaging	Het
Arhgef18	A	G	8: 3,434,918 (GRCm39)	R188G	probably damaging	Het
Atp2c2	A	T	8: 120,478,008 (GRCm39)	D695V	probably damaging	Het
B3gnt4	A	T	5: 123,648,718 (GRCm39)	I28L	probably benign	Het
C2cd3	A	G	7: 100,068,914 (GRCm39)	D536G		Het
Cacna1c	A	G	6: 118,581,406 (GRCm39)	S1733P		Het
Cacna1e	T	C	1: 154,601,911 (GRCm39)		probably benign	Het
Capns1	A	G	7: 29,891,960 (GRCm39)	F101L	probably damaging	Het
Ccdc180	A	G	4: 45,922,015 (GRCm39)	T1030A	probably benign	Het
Cdh23	T	C	10: 60,159,329 (GRCm39)	T2151A	probably benign	Het
Cenpe	T	A	3: 134,953,220 (GRCm39)	L1558Q	probably damaging	Het
Cfap157	T	C	2: 32,667,520 (GRCm39)	H521R	probably benign	Het
Crygs	T	A	16: 22,624,069 (GRCm39)	*179C	probably null	Het
Ctsb	T	C	14: 63,375,550 (GRCm39)	V172A	probably benign	Het
Cul9	T	C	17: 46,830,836 (GRCm39)	T1686A	probably benign	Het
Cutc	T	C	19: 43,748,382 (GRCm39)	V95A	probably benign	Het
Cxcl3	A	G	5: 90,934,105 (GRCm39)	T26A	probably benign	Het
Dnah9	A	G	11: 66,016,041 (GRCm39)	V400A	probably benign	Het
Dysf	A	T	6: 84,107,104 (GRCm39)	N1139I	possibly damaging	Het
Fam136a	G	A	6: 86,343,667 (GRCm39)	E55K	probably benign	Het
Fam151a	A	G	4: 106,600,502 (GRCm39)	D179G	probably damaging	Het
Fam178b	T	C	1: 36,671,533 (GRCm39)	D196G	probably damaging	Het
Fut9	A	T	4: 25,620,691 (GRCm39)	M41K	probably benign	Het
Gm9195	T	C	14: 72,694,122 (GRCm39)	Q1531R	probably null	Het
Gpr6	A	T	10: 40,946,868 (GRCm39)	V238D	probably damaging	Het
Hoxa2	A	T	6: 52,140,283 (GRCm39)	S234R	probably benign	Het
Itga4	A	G	2: 79,103,337 (GRCm39)	T143A	probably benign	Het
Kcnq2	A	G	2: 180,723,382 (GRCm39)	S693P	probably benign	Het
Kif13b	A	G	14: 65,041,107 (GRCm39)	I1732V	probably benign	Het
Klhl14	A	G	18: 21,785,211 (GRCm39)	V72A	probably benign	Het
Krt1c	T	A	15: 101,722,954 (GRCm39)	D348V	probably benign	Het
Map4k2	A	T	19: 6,394,094 (GRCm39)	E300D	probably benign	Het
Mars1	A	G	10: 127,138,679 (GRCm39)		probably null	Het
Mpo	A	G	11: 87,688,403 (GRCm39)	D354G	probably benign	Het
Mrpl15	T	C	1: 4,847,778 (GRCm39)	T174A	probably damaging	Het
Myom2	G	A	8: 15,172,450 (GRCm39)	C1183Y	probably damaging	Het
Nlrp2	A	G	7: 5,320,468 (GRCm39)		probably null	Het
Nlrp9b	T	C	7: 19,753,125 (GRCm39)	L10P	probably damaging	Het
Nrip2	A	G	6: 128,377,232 (GRCm39)	S53G	probably benign	Het
Or13a22	G	A	7: 140,072,912 (GRCm39)	M120I	probably damaging	Het
Or4k36	T	C	2: 111,146,277 (GRCm39)	I151T	probably benign	Het
Or52a5b	A	G	7: 103,416,677 (GRCm39)	M309T	probably benign	Het
Or52z13	C	T	7: 103,246,735 (GRCm39)	L71F	probably benign	Het
Or8b54	A	T	9: 38,686,791 (GRCm39)	K80I	probably damaging	Het
Or8g18	C	T	9: 39,148,977 (GRCm39)	V248I	probably benign	Het
Pak5	A	G	2: 135,958,225 (GRCm39)	S288P	probably damaging	Het
Pjvk	T	C	2: 76,487,809 (GRCm39)	F234L	probably benign	Het
Plekhm2	T	C	4: 141,358,658 (GRCm39)	N616D	probably benign	Het
Pnkp	C	T	7: 44,506,852 (GRCm39)	R9C	probably damaging	Het
Prom1	A	G	5: 44,213,272 (GRCm39)	C154R	probably damaging	Het
Rab3gap2	T	A	1: 185,014,579 (GRCm39)	W1243R	probably benign	Het
Rad17	C	T	13: 100,765,974 (GRCm39)	A385T	probably damaging	Het
Rasgrp1	T	C	2: 117,118,424 (GRCm39)	I522V	probably damaging	Het
Rnf213	T	C	11: 119,349,310 (GRCm39)	C3804R		Het
Ros1	T	A	10: 52,046,072 (GRCm39)	T153S	probably benign	Het
Sema4g	T	C	19: 44,986,010 (GRCm39)	S284P	probably damaging	Het
Septin9	C	T	11: 117,090,571 (GRCm39)		probably benign	Het
Slc2a9	T	C	5: 38,574,569 (GRCm39)	S236G	probably damaging	Het
Slc9c1	T	C	16: 45,398,256 (GRCm39)	F674L	probably benign	Het
Slfn5	A	T	11: 82,849,585 (GRCm39)	K361N	probably damaging	Het
Smad6	A	G	9: 63,929,052 (GRCm39)	L88S	unknown	Het
Smarca4	T	A	9: 21,550,371 (GRCm39)		probably null	Het
Smg7	A	T	1: 152,735,240 (GRCm39)	N198K	probably damaging	Het
Sorcs1	G	A	19: 50,141,234 (GRCm39)	Q1166*	probably null	Het
Stap1	A	G	5: 86,238,854 (GRCm39)	N212S	possibly damaging	Het
Tbx2	C	G	11: 85,724,138 (GRCm39)	A69G	possibly damaging	Het
Tmc1	C	A	19: 20,884,372 (GRCm39)	D23Y	probably damaging	Het
Tmf1	A	T	6: 97,135,455 (GRCm39)	D940E	probably benign	Het
Trim27	T	A	13: 21,364,770 (GRCm39)	C36S	probably damaging	Het
Unc80	G	A	1: 66,560,696 (GRCm39)	G808D	probably damaging	Het
Usp17ld	G	T	7: 102,900,094 (GRCm39)	Y279*	probably null	Het
Usp40	G	A	1: 87,913,794 (GRCm39)	A433V	probably benign	Het
Vmn1r49	G	A	6: 90,049,843 (GRCm39)	A53V	probably benign	Het
Vmn1r84	T	C	7: 12,095,787 (GRCm39)	N302S	probably benign	Het
Wfdc2	A	T	2: 164,407,741 (GRCm39)	I137L	probably benign	Het

Other mutations in Nfkb2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
xander	APN	19	0 ()	splice acceptor site
IGL01466:Nfkb2	APN	19	46,296,455 (GRCm39)	missense	probably damaging	0.96
IGL01791:Nfkb2	APN	19	46,298,278 (GRCm39)	unclassified	probably benign
IGL01966:Nfkb2	APN	19	46,298,129 (GRCm39)	missense	probably benign	0.04
IGL03296:Nfkb2	APN	19	46,298,367 (GRCm39)	missense	probably damaging	1.00
Dolores	UTSW	19	46,296,662 (GRCm39)	missense	possibly damaging	0.86
Gawk	UTSW	19	46,295,304 (GRCm39)	missense	probably damaging	1.00
haze	UTSW	19	46,295,873 (GRCm39)	missense	possibly damaging	0.93
humbert	UTSW	19	46,295,880 (GRCm39)	missense	possibly damaging	0.86
lolita	UTSW	19	46,296,159 (GRCm39)	critical splice donor site	probably null
Nabukov	UTSW	19	46,296,878 (GRCm39)	missense	probably damaging	0.99
pale_fire	UTSW	19	46,300,065 (GRCm39)	missense	possibly damaging	0.96
Quilty	UTSW	19	46,297,082 (GRCm39)	missense	possibly damaging	0.64
R0270:Nfkb2	UTSW	19	46,300,065 (GRCm39)	missense	possibly damaging	0.96
R0561:Nfkb2	UTSW	19	46,298,301 (GRCm39)	missense	possibly damaging	0.93
R1944:Nfkb2	UTSW	19	46,296,491 (GRCm39)	missense	probably damaging	1.00
R2217:Nfkb2	UTSW	19	46,296,163 (GRCm39)	splice site	probably null
R2878:Nfkb2	UTSW	19	46,295,880 (GRCm39)	missense	possibly damaging	0.86
R4493:Nfkb2	UTSW	19	46,296,878 (GRCm39)	missense	probably damaging	0.99
R4494:Nfkb2	UTSW	19	46,296,878 (GRCm39)	missense	probably damaging	0.99
R4495:Nfkb2	UTSW	19	46,296,878 (GRCm39)	missense	probably damaging	0.99
R4731:Nfkb2	UTSW	19	46,297,403 (GRCm39)	missense	possibly damaging	0.74
R4752:Nfkb2	UTSW	19	46,296,006 (GRCm39)	missense	probably benign	0.02
R4753:Nfkb2	UTSW	19	46,296,006 (GRCm39)	missense	probably benign	0.02
R4777:Nfkb2	UTSW	19	46,296,006 (GRCm39)	missense	probably benign	0.02
R4780:Nfkb2	UTSW	19	46,298,361 (GRCm39)	missense	probably damaging	1.00
R4820:Nfkb2	UTSW	19	46,296,493 (GRCm39)	missense	probably damaging	0.99
R4837:Nfkb2	UTSW	19	46,296,006 (GRCm39)	missense	probably benign	0.02
R4839:Nfkb2	UTSW	19	46,296,006 (GRCm39)	missense	probably benign	0.02
R5514:Nfkb2	UTSW	19	46,299,847 (GRCm39)	missense	probably damaging	1.00
R5519:Nfkb2	UTSW	19	46,296,006 (GRCm39)	missense	probably benign	0.02
R5549:Nfkb2	UTSW	19	46,296,006 (GRCm39)	missense	probably benign	0.02
R5615:Nfkb2	UTSW	19	46,296,006 (GRCm39)	missense	probably benign	0.02
R5616:Nfkb2	UTSW	19	46,296,006 (GRCm39)	missense	probably benign	0.02
R5709:Nfkb2	UTSW	19	46,298,960 (GRCm39)	missense	probably damaging	1.00
R6053:Nfkb2	UTSW	19	46,300,251 (GRCm39)	missense	probably damaging	1.00
R6794:Nfkb2	UTSW	19	46,296,159 (GRCm39)	critical splice donor site	probably null
R7539:Nfkb2	UTSW	19	46,296,662 (GRCm39)	missense	possibly damaging	0.86
R7963:Nfkb2	UTSW	19	46,298,358 (GRCm39)	missense	possibly damaging	0.78
R8147:Nfkb2	UTSW	19	46,295,873 (GRCm39)	missense	possibly damaging	0.93
R8153:Nfkb2	UTSW	19	46,296,455 (GRCm39)	missense	probably damaging	0.96
R8241:Nfkb2	UTSW	19	46,296,054 (GRCm39)	missense	probably benign	0.01
R8992:Nfkb2	UTSW	19	46,295,304 (GRCm39)	missense	probably damaging	1.00
R9405:Nfkb2	UTSW	19	46,296,839 (GRCm39)	missense	probably damaging	1.00
R9549:Nfkb2	UTSW	19	46,298,111 (GRCm39)	missense	probably damaging	1.00
R9709:Nfkb2	UTSW	19	46,298,782 (GRCm39)	missense	probably benign	0.02
S24628:Nfkb2	UTSW	19	46,296,006 (GRCm39)	missense	probably benign	0.02
Z1177:Nfkb2	UTSW	19	46,300,029 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGCAGCTGAAACGCAAGC -3'
(R):5'- CCAGGACTCTCCCAGATTCC -3'

Sequencing Primer
(F):5'- GATGTCTCGGACTCCAAACAGTTC -3'
(R):5'- GACTCTCCCAGATTCCTCTCCTAAC -3'

Posted On

2019-10-24