Mutagenetix > Incidental Mutation

Incidental Mutation 'R4780:Nfkb2'

366464

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

041993-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.612) question?

Stock #

R4780 (G1)

Quality Score

184

Status

Validated

Chromosome

Chromosomal Location

46292759-46300824 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 46298361 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 555 (L555Q)

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: L555Q

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

SMART Domains

Protein: ENSMUSP00000072859
Gene: ENSMUSG00000025225
AA Change: L555Q

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: L555Q

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

SMART Domains

Protein: ENSMUSP00000107512
Gene: ENSMUSG00000025225
AA Change: L555Q

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

0.3316

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.6%

Validation Efficiency

98% (107/109)

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: 105 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	G	3: 137,771,131 (GRCm39)	N107D	probably benign	Het
4833413E03Rik	A	C	17: 31,777,738 (GRCm39)		noncoding transcript	Het
4931429L15Rik	G	T	9: 46,220,144 (GRCm39)	H129Q	possibly damaging	Het
A730018C14Rik	A	G	12: 112,382,069 (GRCm39)		noncoding transcript	Het
Abcc6	T	A	7: 45,646,115 (GRCm39)	K791N	probably benign	Het
Adcy4	T	G	14: 56,012,493 (GRCm39)	Q550P	probably benign	Het
Add3	C	A	19: 53,223,223 (GRCm39)	A325E	possibly damaging	Het
Agbl4	T	A	4: 111,514,528 (GRCm39)	I513N	possibly damaging	Het
Agfg1	C	A	1: 82,864,108 (GRCm39)	T392K	probably damaging	Het
Akna	C	A	4: 63,297,491 (GRCm39)	M854I	probably benign	Het
Ankrd44	T	C	1: 54,802,916 (GRCm39)	N194S	probably benign	Het
Anks1b	A	G	10: 89,709,594 (GRCm39)	K21E	probably damaging	Het
Ap1s3	A	G	1: 79,586,889 (GRCm39)	F154L	probably benign	Het
Apbb2	T	A	5: 66,520,160 (GRCm39)	N477I	probably damaging	Het
Apobec3	T	C	15: 79,783,225 (GRCm39)	C101R	possibly damaging	Het
Arnt	G	T	3: 95,395,696 (GRCm39)	V410F	probably damaging	Het
Arsg	G	A	11: 109,424,839 (GRCm39)	R270H	possibly damaging	Het
B3gnt7	T	A	1: 86,232,992 (GRCm39)	D79E	probably damaging	Het
Cd44	G	T	2: 102,691,910 (GRCm39)	A126D	probably damaging	Het
Cd69	A	G	6: 129,248,318 (GRCm39)	I56T	probably damaging	Het
Cep120	G	A	18: 53,857,608 (GRCm39)	P286S	probably benign	Het
Ces2a	T	C	8: 105,463,840 (GRCm39)	F184S	probably damaging	Het
Chrng	A	G	1: 87,135,246 (GRCm39)	N185S	probably damaging	Het
Cldn6	A	T	17: 23,900,221 (GRCm39)	M62L	probably benign	Het
Cntn6	T	A	6: 104,822,745 (GRCm39)	N765K	probably damaging	Het
Cspg4b	A	G	13: 113,454,392 (GRCm39)	Y146C	probably damaging	Het
Ctnnal1	T	C	4: 56,847,857 (GRCm39)	D94G	probably damaging	Het
Cyp2c69	T	C	19: 39,866,038 (GRCm39)	N185S	probably benign	Het
Depdc1a	A	G	3: 159,232,343 (GRCm39)	N698S	probably benign	Het
Dnah2	A	T	11: 69,364,697 (GRCm39)	I1986N	probably damaging	Het
Dnah7b	A	G	1: 46,392,174 (GRCm39)	E3845G	probably benign	Het
Dpysl3	C	T	18: 43,487,867 (GRCm39)	V159I	probably benign	Het
Dync1h1	T	C	12: 110,627,630 (GRCm39)	Y4047H	probably damaging	Het
E130308A19Rik	C	T	4: 59,691,057 (GRCm39)	P297L	probably benign	Het
E2f5	A	G	3: 14,652,379 (GRCm39)	T72A	probably benign	Het
Ephb6	G	T	6: 41,593,073 (GRCm39)	R437L	probably damaging	Het
Erbb4	T	C	1: 68,337,473 (GRCm39)	H615R	probably damaging	Het
Erbin	T	C	13: 104,020,714 (GRCm39)	T82A	probably damaging	Het
Eri2	T	C	7: 119,384,903 (GRCm39)	N533D	probably benign	Het
Fkbp9	A	G	6: 56,827,701 (GRCm39)	N174S	probably damaging	Het
Fsbp	C	T	4: 11,583,709 (GRCm39)	T136I	possibly damaging	Het
Fubp3	C	A	2: 31,473,223 (GRCm39)	D47E	probably damaging	Het
Gm21850	G	A	2: 153,898,419 (GRCm39)		noncoding transcript	Het
Gm5141	T	A	13: 62,922,764 (GRCm39)	Y135F	unknown	Het
Gm7353	T	A	7: 3,160,725 (GRCm39)		noncoding transcript	Het
Gm9925	T	C	18: 74,198,344 (GRCm39)		probably benign	Het
Greb1l	T	C	18: 10,541,792 (GRCm39)	S1180P	probably benign	Het
H2ac11	G	A	13: 22,227,079 (GRCm39)	Q7*	probably null	Het
Ift70a2	A	C	2: 75,807,920 (GRCm39)	C197W	probably benign	Het
Kiz	A	G	2: 146,731,166 (GRCm39)	T192A	possibly damaging	Het
Klhl24	T	A	16: 19,925,708 (GRCm39)	C79S	probably damaging	Het
Map3k11	A	G	19: 5,740,966 (GRCm39)	H231R	probably damaging	Het
Mbd4	C	A	6: 115,826,345 (GRCm39)	R194S	probably benign	Het
Mettl21e	A	C	1: 44,250,303 (GRCm39)	S34R	probably benign	Het
Mrps5	T	C	2: 127,440,161 (GRCm39)	V245A	probably benign	Het
Mtrf1	T	C	14: 79,639,128 (GRCm39)	Y87H	probably benign	Het
Myh15	T	C	16: 48,940,420 (GRCm39)	I790T	probably benign	Het
Necab1	T	G	4: 14,989,248 (GRCm39)	I176L	probably benign	Het
Nhlrc3	T	A	3: 53,365,988 (GRCm39)	E168D	probably benign	Het
Nlrp5	T	A	7: 23,135,203 (GRCm39)	C949S	probably damaging	Het
Nup155	C	A	15: 8,187,187 (GRCm39)	A1372E	probably benign	Het
Nynrin	G	T	14: 56,100,720 (GRCm39)	R170L	probably damaging	Het
Ogfrl1	T	A	1: 23,409,402 (GRCm39)	N275Y	probably damaging	Het
Olr1	A	T	6: 129,465,839 (GRCm39)	S56T	probably damaging	Het
Or4k52	A	G	2: 111,611,190 (GRCm39)	D175G	probably damaging	Het
Or5aq1	C	T	2: 86,966,221 (GRCm39)	S148N	probably damaging	Het
Or5b121	A	G	19: 13,507,319 (GRCm39)	N138S	probably benign	Het
Or8b48	A	G	9: 38,493,265 (GRCm39)	T231A	possibly damaging	Het
Ovol2	A	T	2: 144,173,203 (GRCm39)		probably benign	Het
Pcdha6	A	T	18: 37,102,906 (GRCm39)	I700F	probably damaging	Het
Prkcz	C	T	4: 155,374,159 (GRCm39)	V86M	probably damaging	Het
Ptpn13	A	G	5: 103,734,639 (GRCm39)	T2124A	probably benign	Het
Ranbp3	G	T	17: 56,980,346 (GRCm39)		probably benign	Het
Rapgef2	A	G	3: 79,077,076 (GRCm39)		probably benign	Het
Rbl1	A	G	2: 157,016,724 (GRCm39)	V625A	probably benign	Het
Rbm38	G	T	2: 172,863,944 (GRCm39)	G38C	probably damaging	Het
Reg1	T	G	6: 78,403,333 (GRCm39)	F7C	possibly damaging	Het
Retnlg	A	T	16: 48,694,697 (GRCm39)	Q115L	possibly damaging	Het
Rhobtb1	G	A	10: 69,105,983 (GRCm39)	V183I	probably benign	Het
Rims1	T	C	1: 22,361,329 (GRCm39)	Q1186R	probably damaging	Het
Ryr1	A	G	7: 28,794,522 (GRCm39)	F1246L	possibly damaging	Het
Samm50	A	G	15: 84,094,811 (GRCm39)	N401S	possibly damaging	Het
Scn3a	T	A	2: 65,336,537 (GRCm39)	I690F	probably damaging	Het
Sdk1	A	G	5: 141,944,993 (GRCm39)	D304G	probably damaging	Het
Skint6	T	C	4: 113,093,594 (GRCm39)	Y183C	probably damaging	Het
Slamf1	A	T	1: 171,604,829 (GRCm39)	T200S	probably benign	Het
Slc34a2	C	T	5: 53,226,793 (GRCm39)	R639C	probably damaging	Het
Smap1	A	T	1: 23,892,517 (GRCm39)	M149K	probably benign	Het
Sorcs1	T	C	19: 50,132,419 (GRCm39)		probably benign	Het
Sp140	T	A	1: 85,538,549 (GRCm39)	D95E	possibly damaging	Het
Spata13	G	A	14: 60,991,356 (GRCm39)	W366*	probably null	Het
Spata31e4	C	A	13: 50,855,116 (GRCm39)	S251R	probably damaging	Het
Strip1	G	A	3: 107,534,314 (GRCm39)	T136I	probably benign	Het
Tacr1	A	T	6: 82,534,053 (GRCm39)	T360S	probably benign	Het
Tbc1d14	T	A	5: 36,728,600 (GRCm39)		probably benign	Het
Tcaf2	T	C	6: 42,604,996 (GRCm39)	Y596C	probably damaging	Het
Tspoap1	C	T	11: 87,669,269 (GRCm39)	T1454I	possibly damaging	Het
Ttn	A	T	2: 76,744,927 (GRCm39)	M5374K	probably benign	Het
Uts2r	G	A	11: 121,051,705 (GRCm39)	V190I	possibly damaging	Het
Vmn1r181	A	G	7: 23,684,008 (GRCm39)	T158A	possibly damaging	Het
Wdr35	A	T	12: 9,068,150 (GRCm39)	T778S	probably benign	Het
Xrn1	A	T	9: 95,856,797 (GRCm39)		probably benign	Het
Zfp35	A	T	18: 24,136,326 (GRCm39)	K223N	probably damaging	Het
Zfp764	T	C	7: 127,003,943 (GRCm39)	Q396R	probably benign	Het
Zfyve1	T	C	12: 83,605,421 (GRCm39)	Y11C	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
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
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'- CTGGTGTCATTGAGCAGATAGC -3'
(R):5'- TTGTTCCCAGGACAGGAGTAG -3'

Sequencing Primer
(F):5'- GATAGCCCACGTCATTTATCACG -3'
(R):5'- GAGTAGGTTGGAAACTTACCCTC -3'

Posted On

2015-12-21