Mutagenetix > Incidental Mutation

Incidental Mutation 'R4820:Nfkb2'

370189

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

042436-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.612) question?

Stock #

R4820 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

46292759-46300824 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 46296493 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 254 (Q254K)

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

probably damaging
Transcript: ENSMUST00000073116
AA Change: Q254K

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000072859
Gene: ENSMUSG00000025225
AA Change: Q254K

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

probably damaging
Transcript: ENSMUST00000111881
AA Change: Q254K

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000107512
Gene: ENSMUSG00000025225
AA Change: Q254K

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

Meta Mutation Damage Score

0.5205

Coding Region Coverage

1x: 99.0%
3x: 98.3%
10x: 96.5%
20x: 92.9%

Validation Efficiency

96% (104/108)

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: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930488N24Rik	T	C	17: 14,326,481 (GRCm39)		noncoding transcript	Het
5730455P16Rik	A	T	11: 80,266,346 (GRCm39)	S132T	possibly damaging	Het
Aadacl3	T	A	4: 144,184,527 (GRCm39)	H77L	probably damaging	Het
Actr5	T	A	2: 158,467,426 (GRCm39)	V122D	probably damaging	Het
Adamts7	A	G	9: 90,071,739 (GRCm39)	D678G	possibly damaging	Het
Alpk1	T	A	3: 127,464,708 (GRCm39)	D1190V	probably benign	Het
Apbb1ip	A	T	2: 22,765,265 (GRCm39)	N649Y	unknown	Het
Atp6v0a1	A	G	11: 100,933,776 (GRCm39)	I522V	probably benign	Het
Brd10	T	C	19: 29,695,809 (GRCm39)	N1228S	possibly damaging	Het
Cars1	T	C	7: 143,124,301 (GRCm39)	D375G	probably damaging	Het
Catspere1	A	T	1: 177,687,441 (GRCm39)		noncoding transcript	Het
Ccdc87	A	G	19: 4,890,579 (GRCm39)	D357G	probably damaging	Het
Cd101	A	T	3: 100,929,471 (GRCm39)	S8T	probably benign	Het
Cfap65	C	T	1: 74,966,791 (GRCm39)	A299T	probably benign	Het
Cic	T	C	7: 24,971,157 (GRCm39)	V296A	possibly damaging	Het
Col7a1	T	A	9: 108,797,675 (GRCm39)	S1686T	possibly damaging	Het
Ctbp2	A	C	7: 132,615,423 (GRCm39)	L504R	probably damaging	Het
Cttnbp2nl	T	C	3: 104,918,640 (GRCm39)	K67E	probably benign	Het
Cyp2c50	C	T	19: 40,102,024 (GRCm39)	P480S	probably damaging	Het
Dcdc5	A	C	2: 106,166,420 (GRCm39)		noncoding transcript	Het
Defb2	G	T	8: 22,333,317 (GRCm39)	E31*	probably null	Het
Dhrs1	T	A	14: 55,977,083 (GRCm39)	N244I	possibly damaging	Het
Dop1b	A	G	16: 93,589,978 (GRCm39)	I134V	probably benign	Het
Eif1ad11	A	T	12: 87,994,158 (GRCm39)	I129F	unknown	Het
Etl4	A	G	2: 20,811,496 (GRCm39)	D1193G	possibly damaging	Het
Ezh1	A	C	11: 101,094,594 (GRCm39)	S399R	probably damaging	Het
Fam161a	T	C	11: 22,970,076 (GRCm39)	S26P	probably damaging	Het
Fcgbp	C	A	7: 27,813,383 (GRCm39)	S2306Y	probably damaging	Het
Fras1	T	C	5: 96,876,512 (GRCm39)	I2415T	probably benign	Het
Gas2l3	A	G	10: 89,252,907 (GRCm39)	L246P	probably damaging	Het
Gdf15	C	T	8: 71,082,246 (GRCm39)	V287M	probably damaging	Het
Gm7742	T	C	17: 21,420,235 (GRCm39)		noncoding transcript	Het
Grin2d	T	C	7: 45,507,363 (GRCm39)	D446G	probably damaging	Het
Hemk1	A	G	9: 107,205,385 (GRCm39)	F107L	probably benign	Het
Hmgcr	C	T	13: 96,796,700 (GRCm39)	G197S	probably damaging	Het
Ift52	G	A	2: 162,873,108 (GRCm39)	G207D	probably benign	Het
Il17re	A	G	6: 113,442,816 (GRCm39)	T275A	probably benign	Het
Iqcf3	T	C	9: 106,430,788 (GRCm39)		probably benign	Het
Kcna1	A	G	6: 126,619,099 (GRCm39)	I407T	probably damaging	Het
Kcnrg	T	A	14: 61,845,386 (GRCm39)	M142K	probably benign	Het
Lhx9	C	A	1: 138,766,105 (GRCm39)	V237L	probably benign	Het
Lipo3	A	C	19: 33,560,497 (GRCm39)	I56S	probably damaging	Het
Loxhd1	C	G	18: 77,472,663 (GRCm39)	P1060R	probably damaging	Het
Map2k4	A	C	11: 65,587,201 (GRCm39)		probably benign	Het
Methig1	A	G	15: 100,251,416 (GRCm39)	K109R	possibly damaging	Het
Mmrn1	G	A	6: 60,950,027 (GRCm39)	V326I	probably benign	Het
Myo15a	G	A	11: 60,367,741 (GRCm39)	R167H	probably damaging	Het
Ncoa7	G	A	10: 30,524,472 (GRCm39)	T142M	probably damaging	Het
Nherf1	A	G	11: 115,070,918 (GRCm39)	E290G	probably benign	Het
Nol6	G	T	4: 41,121,508 (GRCm39)	P278Q	probably damaging	Het
Nptxr	T	A	15: 79,677,027 (GRCm39)	D285V	probably damaging	Het
Oosp3	T	C	19: 11,688,997 (GRCm39)	W82R	probably damaging	Het
Or6b3	A	T	1: 92,438,812 (GRCm39)	*313K	probably null	Het
Or6n1	A	G	1: 173,916,742 (GRCm39)	I45M	possibly damaging	Het
Pa2g4	G	T	10: 128,395,199 (GRCm39)	T322K	probably damaging	Het
Parp16	C	A	9: 65,145,175 (GRCm39)	F291L	probably damaging	Het
Pdzd9	A	T	7: 120,267,619 (GRCm39)	D65E	probably damaging	Het
Pgap3	A	G	11: 98,281,300 (GRCm39)	W238R	probably damaging	Het
Pgf	G	A	12: 85,218,538 (GRCm39)	H67Y	probably benign	Het
Pik3cb	T	C	9: 98,955,679 (GRCm39)	T413A	probably benign	Het
Plcxd2	A	T	16: 45,800,700 (GRCm39)	C175S	probably benign	Het
Pou2f1	A	T	1: 165,719,517 (GRCm39)		probably benign	Het
Ppfia1	T	G	7: 144,052,106 (GRCm39)	N846T	probably benign	Het
Ppid	T	A	3: 79,502,504 (GRCm39)		probably null	Het
Prkcq	G	A	2: 11,231,797 (GRCm39)		probably null	Het
Ptgds	T	C	2: 25,359,058 (GRCm39)	K66E	probably benign	Het
Ptpmt1	A	G	2: 90,748,283 (GRCm39)		noncoding transcript	Het
Rab3il1	G	A	19: 10,004,034 (GRCm39)	G51D	probably benign	Het
Rdx	T	C	9: 51,974,891 (GRCm39)	V9A	probably damaging	Het
Rpl7l1	T	C	17: 47,089,014 (GRCm39)	N239S	probably benign	Het
Rrbp1	C	A	2: 143,806,685 (GRCm39)	A978S	possibly damaging	Het
Rsf1	GCGGCGGCG	GCGGCGGCGCCGGCGGCG	7: 97,229,126 (GRCm39)		probably benign	Het
Scn3a	A	T	2: 65,291,622 (GRCm39)	I1708N	probably damaging	Het
Serinc1	A	G	10: 57,401,466 (GRCm39)	I109T	possibly damaging	Het
Shroom1	G	A	11: 53,355,966 (GRCm39)	V339I	probably benign	Het
Slc30a8	T	A	15: 52,169,880 (GRCm39)	C36S	probably benign	Het
Slco1b2	A	G	6: 141,631,158 (GRCm39)	I597M	probably benign	Het
Snx27	A	G	3: 94,427,518 (GRCm39)	F228S	probably damaging	Het
Spata31f1a	T	A	4: 42,851,815 (GRCm39)	I114F	probably damaging	Het
Speer4e2	G	T	5: 15,026,225 (GRCm39)	T144K	probably benign	Het
Stim1	T	A	7: 102,064,571 (GRCm39)	F214I	probably damaging	Het
Svep1	T	C	4: 58,082,664 (GRCm39)	T1987A	probably benign	Het
Tamm41	A	G	6: 115,002,378 (GRCm39)	I18T	possibly damaging	Het
Tmem150b	T	A	7: 4,726,871 (GRCm39)	D79V	probably damaging	Het
Tmem167	T	A	13: 90,252,548 (GRCm39)	I68N	probably benign	Het
Traf3	A	G	12: 111,227,204 (GRCm39)	E339G	possibly damaging	Het
Tspan12	G	A	6: 21,795,660 (GRCm39)	P177S	probably damaging	Het
Ttn	A	G	2: 76,783,562 (GRCm39)	I810T	probably benign	Het
Ulk1	T	C	5: 110,939,996 (GRCm39)	T407A	probably benign	Het
Uroc1	G	A	6: 90,334,600 (GRCm39)		probably null	Het
Vmn2r-ps69	T	C	7: 84,959,584 (GRCm39)		noncoding transcript	Het
Wdr59	T	C	8: 112,207,446 (GRCm39)	N476S	probably benign	Het
Zfp472	A	G	17: 33,196,416 (GRCm39)	M164V	probably benign	Het
Zfp608	T	C	18: 55,120,756 (GRCm39)	N277S	probably benign	Het
Zfp831	T	C	2: 174,547,097 (GRCm39)	C1427R	possibly 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
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
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'- AACATCTGAGTGTTGCTTCTGAG -3'
(R):5'- AGAAGTCCCCAAAGGCTTGC -3'

Sequencing Primer
(F):5'- CTGAGTGGTAAATGTGAATACTGC -3'
(R):5'- CAAAGGCTTGCCATCCATTC -3'

Posted On

2016-02-04