Mutagenetix > Incidental Mutation

Incidental Mutation 'R6053:Nfkb2'

484282

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

044221-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.586) question?

Stock #

R6053 (G1)

Quality Score

190.009

Status

Not validated

Chromosome

Chromosomal Location

46292759-46300824 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 46300251 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 873 (E873G)

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: E873G

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

SMART Domains

Protein: ENSMUSP00000072859
Gene: ENSMUSG00000025225
AA Change: E873G

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: E873G

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

SMART Domains

Protein: ENSMUSP00000107512
Gene: ENSMUSG00000025225
AA Change: E873G

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

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 94.9%

Validation Efficiency

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	T	C	3: 121,964,666 (GRCm39)	Y2158H	probably damaging	Het
Acap1	T	G	11: 69,777,896 (GRCm39)		probably null	Het
Adamts4	T	A	1: 171,080,284 (GRCm39)	I279N	possibly damaging	Het
Akap3	A	G	6: 126,843,496 (GRCm39)	E705G	probably damaging	Het
Aoc1l3	A	G	6: 48,965,422 (GRCm39)	T477A	probably benign	Het
Arap3	C	A	18: 38,123,824 (GRCm39)	L398F	probably damaging	Het
Catsperg1	A	T	7: 28,910,239 (GRCm39)	L34*	probably null	Het
Ccdc171	T	G	4: 83,713,456 (GRCm39)	L1165R	probably damaging	Het
Ccdc3	G	A	2: 5,233,838 (GRCm39)	V221I	probably benign	Het
Cdc42ep4	T	A	11: 113,619,812 (GRCm39)	H193L	probably damaging	Het
Clcn1	G	A	6: 42,277,208 (GRCm39)	W361*	probably null	Het
Cntn2	T	C	1: 132,446,090 (GRCm39)	N832S	probably benign	Het
Col5a1	A	T	2: 27,904,389 (GRCm39)		probably benign	Het
Cplane1	A	G	15: 8,217,945 (GRCm39)	D785G	probably benign	Het
Cspg4b	C	A	13: 113,457,260 (GRCm39)	P1102Q	possibly damaging	Het
Ctc1	T	A	11: 68,918,727 (GRCm39)	M550K	probably benign	Het
Dennd5a	T	C	7: 109,532,952 (GRCm39)	R273G	probably damaging	Het
Dnajb7	T	C	15: 81,291,500 (GRCm39)	E279G	probably benign	Het
Dop1a	G	T	9: 86,397,347 (GRCm39)	G882W	possibly damaging	Het
Dvl2	A	G	11: 69,896,819 (GRCm39)	R238G	possibly damaging	Het
Ect2l	A	T	10: 18,017,592 (GRCm39)	L629Q	probably damaging	Het
Enpp1	T	C	10: 24,533,024 (GRCm39)	D497G	possibly damaging	Het
Ep400	T	C	5: 110,903,661 (GRCm39)	M313V	probably benign	Het
Epn2	T	C	11: 61,437,323 (GRCm39)	Y83C	probably damaging	Het
Ercc3	T	G	18: 32,379,807 (GRCm39)	V338G	probably damaging	Het
Fkbp5	T	C	17: 28,647,440 (GRCm39)	I132V	probably benign	Het
Fn1	A	T	1: 71,638,449 (GRCm39)	Y1846N	probably damaging	Het
Foxg1	T	C	12: 49,432,161 (GRCm39)	L298P	possibly damaging	Het
Foxo3	G	A	10: 42,073,210 (GRCm39)	P436S	probably benign	Het
Gbx2	T	C	1: 89,858,159 (GRCm39)	T107A	probably benign	Het
Gli1	G	T	10: 127,170,184 (GRCm39)	H324N	probably damaging	Het
Gnas	T	A	2: 174,141,645 (GRCm39)	S605T	possibly damaging	Het
Ica1	C	T	6: 8,630,783 (GRCm39)	A431T	probably benign	Het
Il10ra	C	T	9: 45,167,601 (GRCm39)	D319N	probably damaging	Het
Jmjd4	T	A	11: 59,344,870 (GRCm39)	H274Q	probably damaging	Het
Krt28	C	A	11: 99,262,027 (GRCm39)	L294F	probably benign	Het
Ltbp3	C	A	19: 5,802,122 (GRCm39)	T766K	probably damaging	Het
Man2b2	C	A	5: 36,970,382 (GRCm39)	M841I	probably benign	Het
Mmp14	T	A	14: 54,673,347 (GRCm39)	M85K	probably benign	Het
Mmp1b	T	A	9: 7,385,031 (GRCm39)	D206V	probably benign	Het
Muc5b	T	C	7: 141,418,445 (GRCm39)	F3797S	probably benign	Het
Mug1	A	G	6: 121,842,697 (GRCm39)	D561G	probably benign	Het
Myo18a	T	A	11: 77,709,002 (GRCm39)	H471Q	probably damaging	Het
Ngfr	G	A	11: 95,461,832 (GRCm39)	H361Y	possibly damaging	Het
Nnt	T	C	13: 119,494,045 (GRCm39)	T679A	possibly damaging	Het
Notch1	A	T	2: 26,362,924 (GRCm39)	N947K	probably benign	Het
Nrg4	A	T	9: 55,143,774 (GRCm39)	V94D	probably benign	Het
Nsd1	G	T	13: 55,441,422 (GRCm39)	C1631F	probably damaging	Het
Nutm1	T	C	2: 112,079,435 (GRCm39)	T827A	probably benign	Het
Or2t47	T	A	11: 58,442,892 (GRCm39)	M58L	possibly damaging	Het
Or4c114	T	C	2: 88,904,898 (GRCm39)	D179G	probably damaging	Het
Or5h19	A	T	16: 58,856,351 (GRCm39)	Y250N	probably damaging	Het
Or6p1	C	A	1: 174,258,135 (GRCm39)	S47*	probably null	Het
Or8b36	TTGCTGT	TTGCTGTCTGCTGT	9: 37,937,837 (GRCm39)		probably null	Het
Orai3	C	T	7: 127,373,050 (GRCm39)	P184S	probably benign	Het
Paqr3	A	T	5: 97,259,137 (GRCm39)	S56T	probably benign	Het
Pard6b	C	T	2: 167,940,973 (GRCm39)	T320M	possibly damaging	Het
Pgs1	T	C	11: 117,892,535 (GRCm39)	S166P	probably damaging	Het
Plaa	T	C	4: 94,478,121 (GRCm39)	T114A	probably benign	Het
Plekha6	G	C	1: 133,200,045 (GRCm39)	R208P	possibly damaging	Het
Plin4	A	T	17: 56,415,618 (GRCm39)	D73E	probably benign	Het
Plxnb1	T	C	9: 108,940,775 (GRCm39)	L1550P	probably damaging	Het
Rbak	A	C	5: 143,160,437 (GRCm39)	Y205*	probably null	Het
Rgs12	T	C	5: 35,123,296 (GRCm39)	F360L	probably benign	Het
Rgs22	A	T	15: 36,100,153 (GRCm39)	D187E	probably benign	Het
Sec24d	C	T	3: 123,072,871 (GRCm39)	Q66*	probably null	Het
Sh2d5	T	A	4: 137,982,873 (GRCm39)	M85K	probably damaging	Het
Sos1	A	G	17: 80,722,463 (GRCm39)	V861A	possibly damaging	Het
Stk11ip	T	A	1: 75,510,899 (GRCm39)		probably null	Het
Tmem26	G	A	10: 68,584,314 (GRCm39)	E127K	probably benign	Het
Tmem41a	T	G	16: 21,753,739 (GRCm39)	T211P	possibly damaging	Het
Tmem69	T	A	4: 116,410,581 (GRCm39)	M130L	possibly damaging	Het
Trak2	C	A	1: 58,943,228 (GRCm39)	R726L	possibly damaging	Het
Vmn1r231	A	G	17: 21,110,081 (GRCm39)	I278T	probably damaging	Het
Vwf	G	A	6: 125,577,628 (GRCm39)	V490I	probably benign	Het
Wdr33	C	T	18: 32,011,116 (GRCm39)	T255I	possibly damaging	Het
Ylpm1	G	T	12: 85,043,277 (GRCm39)	W5L	possibly damaging	Het
Zfp169	A	T	13: 48,652,334 (GRCm39)	W28R	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
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
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'- ATTGGAGGCCTTGTCTGACATG -3'
(R):5'- CTGTACCGTAAGTTGGGGAG -3'

Sequencing Primer
(F):5'- GCCTTGTCTGACATGGGTCTC -3'
(R):5'- TATTTGACCCACCGAGATGTG -3'

Posted On

2017-07-14