Mutagenetix > Incidental Mutation

Incidental Mutation 'R4731:Nfkb2'

358909

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

042021-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.586) question?

Stock #

R4731 (G1)

Quality Score

173

Status

Validated

Chromosome

Chromosomal Location

46292759-46300824 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 46297403 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 406 (Q406R)

Ref Sequence

ENSEMBL: ENSMUSP00000107512 (fasta)

Gene Model

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

AlphaFold

Q9WTK5

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: Q406R

PolyPhen 2 Score 0.740 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000072859
Gene: ENSMUSG00000025225
AA Change: Q406R

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: Q406R

PolyPhen 2 Score 0.740 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000107512
Gene: ENSMUSG00000025225
AA Change: Q406R

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225748

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226062

Meta Mutation Damage Score

0.0767

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.9%

Validation Efficiency

99% (117/118)

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: 115 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actmap	T	A	7: 26,900,468 (GRCm39)	M149K	probably damaging	Het
Adamts12	A	T	15: 11,270,748 (GRCm39)	S668C	probably damaging	Het
Adcy8	A	G	15: 64,626,711 (GRCm39)	V709A	possibly damaging	Het
Aim2	T	A	1: 173,291,442 (GRCm39)	D282E	possibly damaging	Het
Akap9	T	A	5: 4,012,266 (GRCm39)	S990T	possibly damaging	Het
Aloxe3	A	T	11: 69,019,480 (GRCm39)	D131V	probably null	Het
Ankrd28	A	C	14: 31,477,698 (GRCm39)	C115G	probably benign	Het
Anxa2	A	T	9: 69,393,812 (GRCm39)	M217L	probably benign	Het
Asah2	T	C	19: 31,972,758 (GRCm39)	N659S	probably benign	Het
Btaf1	A	G	19: 36,958,478 (GRCm39)	D665G	probably benign	Het
Cdc42bpg	T	A	19: 6,361,221 (GRCm39)	V282E	probably damaging	Het
Cdh15	G	A	8: 123,588,763 (GRCm39)	R279Q	probably damaging	Het
Cdipt	T	A	7: 126,577,530 (GRCm39)	L92H	probably damaging	Het
Cep104	T	A	4: 154,072,883 (GRCm39)	D380E	probably damaging	Het
Cfap74	T	A	4: 155,548,059 (GRCm39)		probably benign	Het
Chd1	A	T	17: 17,598,079 (GRCm39)	E55D	probably benign	Het
Cldnd2	T	A	7: 43,091,613 (GRCm39)	C65S	possibly damaging	Het
Clec9a	G	T	6: 129,393,299 (GRCm39)	A108S	probably benign	Het
Cog7	T	C	7: 121,563,467 (GRCm39)	D215G	probably benign	Het
Col9a3	G	A	2: 180,252,474 (GRCm39)	E373K	probably damaging	Het
Deptor	C	A	15: 55,044,406 (GRCm39)	H191N	probably benign	Het
Dgkz	A	T	2: 91,768,684 (GRCm39)	I699N	probably damaging	Het
Dnah7c	T	A	1: 46,809,333 (GRCm39)	N3550K	probably damaging	Het
Dnah8	A	G	17: 30,994,035 (GRCm39)	K3384R	probably null	Het
Dnajc13	CT	C	9: 104,064,004 (GRCm39)		probably benign	Het
Dnhd1	C	A	7: 105,323,056 (GRCm39)	N521K	probably benign	Het
Efhb	G	A	17: 53,733,272 (GRCm39)	T533I	probably damaging	Het
Ercc4	A	T	16: 12,965,471 (GRCm39)	H701L	probably damaging	Het
Ern1	A	T	11: 106,325,676 (GRCm39)		probably benign	Het
Etfb	T	C	7: 43,093,624 (GRCm39)	V17A	probably damaging	Het
Evc	T	A	5: 37,481,141 (GRCm39)	M235L	probably benign	Het
Fbxw22	T	C	9: 109,207,937 (GRCm39)	I445V	probably benign	Het
Fmnl2	A	G	2: 53,007,081 (GRCm39)	T764A	possibly damaging	Het
Fto	T	A	8: 92,136,342 (GRCm39)	D205E	probably damaging	Het
Galntl6	G	A	8: 58,880,847 (GRCm39)	P147L	probably damaging	Het
Gm6871	T	C	7: 41,196,173 (GRCm39)	I39V	probably benign	Het
Gpr83	A	G	9: 14,777,470 (GRCm39)		probably benign	Het
Gucy1a2	A	T	9: 3,759,424 (GRCm39)	H410L	probably benign	Het
Helb	T	C	10: 119,930,193 (GRCm39)		probably null	Het
Ifi214	T	C	1: 173,354,157 (GRCm39)	Q171R	probably benign	Het
Ifit1bl1	T	C	19: 34,571,721 (GRCm39)	I245M	probably benign	Het
Igdcc3	A	G	9: 65,089,279 (GRCm39)	T492A	probably damaging	Het
Ighv13-1	T	C	12: 114,231,252 (GRCm39)		probably benign	Het
Igkv4-50	T	C	6: 69,677,984 (GRCm39)	K40R	probably benign	Het
Igkv8-18	T	A	6: 70,333,280 (GRCm39)	I74N	probably damaging	Het
Iho1	A	G	9: 108,282,584 (GRCm39)	V368A	probably benign	Het
Kbtbd7	T	C	14: 79,666,240 (GRCm39)	*691Q	probably null	Het
Khnyn	T	A	14: 56,123,946 (GRCm39)		probably null	Het
Kif26a	G	A	12: 112,142,007 (GRCm39)	A754T	probably benign	Het
Llgl1	T	A	11: 60,597,051 (GRCm39)	L194*	probably null	Het
Map3k12	G	T	15: 102,409,717 (GRCm39)	T686N	probably benign	Het
Myo18a	C	A	11: 77,720,585 (GRCm39)	P741Q	probably benign	Het
Ncaph2	G	A	15: 89,240,030 (GRCm39)		probably benign	Het
Or10g9b	A	T	9: 39,917,564 (GRCm39)	I227N	probably damaging	Het
Or11g2	T	A	14: 50,856,026 (GRCm39)	C116S	probably benign	Het
Or1ad6	G	A	11: 50,860,093 (GRCm39)	V83M	possibly damaging	Het
Or2i1	T	C	17: 37,507,915 (GRCm39)	T315A	probably damaging	Het
Or2n1e	T	A	17: 38,586,438 (GRCm39)	Y259N	probably damaging	Het
Or8b12	A	T	9: 37,657,831 (GRCm39)	T134S	probably benign	Het
Ostm1	C	T	10: 42,554,975 (GRCm39)		probably benign	Het
Pabpc1	A	T	15: 36,599,528 (GRCm39)	V389E	probably benign	Het
Pank4	A	T	4: 155,055,847 (GRCm39)	M291L	probably benign	Het
Pex6	A	G	17: 47,033,214 (GRCm39)	D579G	probably benign	Het
Pex6	A	G	17: 47,035,633 (GRCm39)		probably null	Het
Phc2	C	T	4: 128,601,764 (GRCm39)	T73M	probably damaging	Het
Pkp4	G	A	2: 59,165,276 (GRCm39)		probably null	Het
Plekhg1	T	A	10: 3,907,506 (GRCm39)	S808T	probably benign	Het
Plk5	A	T	10: 80,194,631 (GRCm39)	H118L	probably damaging	Het
Pnlip	T	C	19: 58,664,919 (GRCm39)	I249T	probably benign	Het
Ptov1	T	C	7: 44,516,533 (GRCm39)	D134G	probably benign	Het
Ptprb	T	C	10: 116,155,238 (GRCm39)	V664A	probably benign	Het
Ptprz1	T	A	6: 23,002,609 (GRCm39)	S1566R	probably benign	Het
Pum1	T	C	4: 130,445,504 (GRCm39)	S158P	probably benign	Het
Rae1	G	T	2: 172,857,185 (GRCm39)		probably benign	Het
Ros1	A	C	10: 52,018,325 (GRCm39)	W778G	probably damaging	Het
Ryr2	A	T	13: 11,592,795 (GRCm39)	M4653K	possibly damaging	Het
Sacm1l	G	A	9: 123,419,895 (GRCm39)	V553I	probably benign	Het
Samd4b	G	A	7: 28,106,088 (GRCm39)	R377W	probably benign	Het
Selenoo	A	G	15: 88,983,531 (GRCm39)	Q524R	probably benign	Het
Slc30a3	T	C	5: 31,250,638 (GRCm39)	S22G	probably benign	Het
Slc35g2	A	C	9: 100,434,555 (GRCm39)	V372G	probably benign	Het
Slc5a8	T	C	10: 88,761,649 (GRCm39)		probably null	Het
Slc7a7	T	C	14: 54,646,190 (GRCm39)	Y91C	probably damaging	Het
Slc7a9	T	A	7: 35,152,988 (GRCm39)	Y135*	probably null	Het
Slfn1	A	T	11: 83,012,661 (GRCm39)	E259V	probably damaging	Het
Slmap	T	C	14: 26,189,690 (GRCm39)	N156S	probably damaging	Het
Smim29	A	G	17: 27,784,244 (GRCm39)		probably benign	Het
Sorbs1	T	A	19: 40,303,133 (GRCm39)	R485S	probably benign	Het
Sptbn2	T	A	19: 4,792,508 (GRCm39)	F1388I	probably damaging	Het
Stac2	C	T	11: 97,930,521 (GRCm39)	G349E	probably damaging	Het
Tigd2	T	A	6: 59,188,400 (GRCm39)	H422Q	probably benign	Het
Tle1	T	C	4: 72,043,256 (GRCm39)	N538D	possibly damaging	Het
Tmtc1	A	C	6: 148,186,478 (GRCm39)		probably null	Het
Tns3	C	T	11: 8,400,986 (GRCm39)	R1104H	probably benign	Het
Tom1l2	C	G	11: 60,161,259 (GRCm39)	R84P	probably damaging	Het
Trank1	T	C	9: 111,219,478 (GRCm39)	F2072L	probably damaging	Het
Trim6	T	C	7: 103,881,855 (GRCm39)	Y369H	probably damaging	Het
Trpc7	A	G	13: 56,952,366 (GRCm39)	S541P	probably damaging	Het
Trpv4	T	C	5: 114,760,814 (GRCm39)	D732G	possibly damaging	Het
Tsc2	C	A	17: 24,822,249 (GRCm39)	V1141F	possibly damaging	Het
Tspoap1	T	A	11: 87,656,473 (GRCm39)	V257E	probably benign	Het
Ttn	A	T	2: 76,773,355 (GRCm39)	M2395K	unknown	Het
Ubd	A	C	17: 37,506,593 (GRCm39)	T160P	probably benign	Het
Ubr7	A	G	12: 102,735,485 (GRCm39)	T315A	probably benign	Het
Ugt2b36	G	T	5: 87,229,397 (GRCm39)	Y156*	probably null	Het
Ulk4	G	A	9: 121,092,704 (GRCm39)	R178*	probably null	Het
Urod	G	A	4: 116,848,870 (GRCm39)	A92V	possibly damaging	Het
Utp20	T	C	10: 88,590,382 (GRCm39)	D2364G	possibly damaging	Het
Vmn1r87	A	T	7: 12,866,254 (GRCm39)	M11K	possibly damaging	Het
Vstm4	A	G	14: 32,639,859 (GRCm39)	K96E	possibly damaging	Het
Wwp1	T	C	4: 19,661,990 (GRCm39)	D172G	probably benign	Het
Zfhx3	A	G	8: 109,682,716 (GRCm39)	Q3385R	unknown	Het
Zfp229	C	T	17: 21,964,267 (GRCm39)	H166Y	possibly damaging	Het
Zfp738	A	T	13: 67,818,033 (GRCm39)	C653S	probably damaging	Het
Zp2	C	A	7: 119,737,343 (GRCm39)	V282L	probably damaging	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
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
R7573:Nfkb2	UTSW	19	46,297,082 (GRCm39)	missense	possibly damaging	0.64
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'- TGAGGAATCTAGGGTCTGACC -3'
(R):5'- GTTGTACTCGCGAGCTAGGG -3'

Sequencing Primer
(F):5'- GACCCATATTAGGTTTTAACACCCCG -3'
(R):5'- CGAGCTAGGGGGCGACAG -3'

Posted On

2015-11-11