Incidental Mutation 'R5514:Nfkb2'
ID |
440270 |
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 |
043074-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.612)
|
Stock # |
R5514 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
19 |
Chromosomal Location |
46292759-46300824 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 46299847 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 807
(Y807C)
|
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: Y807C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000072859 Gene: ENSMUSG00000025225 AA Change: Y807C
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: Y807C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000107512 Gene: ENSMUSG00000025225 AA Change: Y807C
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: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
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: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam17 |
T |
C |
12: 21,390,520 (GRCm39) |
S382G |
probably damaging |
Het |
Agr2 |
G |
A |
12: 36,046,090 (GRCm39) |
V74I |
probably benign |
Het |
Aldh3a1 |
T |
C |
11: 61,108,867 (GRCm39) |
S423P |
probably damaging |
Het |
Ampd1 |
C |
T |
3: 102,986,488 (GRCm39) |
H56Y |
possibly damaging |
Het |
Arhgef2 |
C |
A |
3: 88,550,304 (GRCm39) |
P670T |
probably benign |
Het |
Blk |
T |
G |
14: 63,615,930 (GRCm39) |
D333A |
probably damaging |
Het |
Bmi1 |
T |
C |
2: 18,686,714 (GRCm39) |
I31T |
probably damaging |
Het |
Cacna1d |
G |
A |
14: 30,072,790 (GRCm39) |
Q62* |
probably null |
Het |
Ccdc88c |
A |
G |
12: 100,879,698 (GRCm39) |
S1801P |
probably damaging |
Het |
Cdkal1 |
C |
T |
13: 29,961,270 (GRCm39) |
A100T |
probably damaging |
Het |
Cfap251 |
G |
T |
5: 123,425,829 (GRCm39) |
|
probably null |
Het |
Chst4 |
G |
T |
8: 110,756,606 (GRCm39) |
S419Y |
probably damaging |
Het |
Cntn4 |
T |
C |
6: 106,649,844 (GRCm39) |
I680T |
probably damaging |
Het |
Ddx55 |
T |
C |
5: 124,694,875 (GRCm39) |
V101A |
probably damaging |
Het |
Ddx60 |
A |
T |
8: 62,411,091 (GRCm39) |
E451V |
probably damaging |
Het |
Dffa |
T |
A |
4: 149,190,772 (GRCm39) |
|
probably null |
Het |
Dgkd |
A |
G |
1: 87,861,832 (GRCm39) |
R796G |
probably damaging |
Het |
Dzank1 |
T |
A |
2: 144,323,605 (GRCm39) |
M614L |
probably benign |
Het |
Elf2 |
G |
T |
3: 51,215,555 (GRCm39) |
Q52K |
probably damaging |
Het |
Fcamr |
T |
A |
1: 130,741,793 (GRCm39) |
L522Q |
probably damaging |
Het |
Fscn2 |
T |
C |
11: 120,258,858 (GRCm39) |
Y468H |
probably damaging |
Het |
Gm12689 |
T |
C |
4: 99,184,402 (GRCm39) |
I85T |
unknown |
Het |
Gm4787 |
A |
G |
12: 81,425,102 (GRCm39) |
V352A |
possibly damaging |
Het |
Gtsf1 |
T |
C |
15: 103,336,802 (GRCm39) |
Q13R |
probably benign |
Het |
Itpkb |
G |
A |
1: 180,241,474 (GRCm39) |
V715M |
probably damaging |
Het |
Jmjd1c |
T |
A |
10: 67,053,928 (GRCm39) |
S263T |
probably damaging |
Het |
Krba1 |
T |
G |
6: 48,390,429 (GRCm39) |
L736R |
probably damaging |
Het |
Lrrc8d |
C |
G |
5: 105,960,650 (GRCm39) |
F353L |
probably damaging |
Het |
Lrrc8d |
G |
A |
5: 105,960,651 (GRCm39) |
E354K |
probably benign |
Het |
Mtor |
T |
A |
4: 148,630,901 (GRCm39) |
V2286E |
probably damaging |
Het |
Mybbp1a |
T |
A |
11: 72,341,462 (GRCm39) |
V1100E |
possibly damaging |
Het |
Myo5a |
G |
A |
9: 75,061,048 (GRCm39) |
G518D |
probably damaging |
Het |
Nalcn |
A |
T |
14: 123,521,123 (GRCm39) |
I1594N |
probably benign |
Het |
Nav1 |
C |
G |
1: 135,398,299 (GRCm39) |
G761A |
probably benign |
Het |
Ncoa2 |
A |
T |
1: 13,251,445 (GRCm39) |
L276H |
probably damaging |
Het |
Ndufaf7 |
T |
C |
17: 79,245,051 (GRCm39) |
Y57H |
probably damaging |
Het |
Nid2 |
A |
T |
14: 19,852,535 (GRCm39) |
Q1081L |
probably damaging |
Het |
Nkain2 |
T |
A |
10: 31,827,189 (GRCm39) |
I134F |
probably damaging |
Het |
Nmu |
A |
C |
5: 76,497,979 (GRCm39) |
S69A |
probably damaging |
Het |
Or4c15b |
A |
T |
2: 89,112,817 (GRCm39) |
I220N |
probably damaging |
Het |
Or5t7 |
T |
C |
2: 86,507,225 (GRCm39) |
I151V |
probably benign |
Het |
Pard3 |
A |
G |
8: 128,153,086 (GRCm39) |
R886G |
probably damaging |
Het |
Pde6b |
G |
T |
5: 108,571,317 (GRCm39) |
Q423H |
probably benign |
Het |
Pip5k1b |
A |
T |
19: 24,327,505 (GRCm39) |
D450E |
probably damaging |
Het |
Plcg1 |
T |
C |
2: 160,595,275 (GRCm39) |
|
probably null |
Het |
Pnpt1 |
T |
C |
11: 29,103,246 (GRCm39) |
S504P |
possibly damaging |
Het |
Pomt2 |
A |
T |
12: 87,175,797 (GRCm39) |
D312E |
probably damaging |
Het |
Ppp1r1b |
T |
C |
11: 98,246,228 (GRCm39) |
L70P |
probably damaging |
Het |
Prr5 |
C |
A |
15: 84,587,096 (GRCm39) |
P282Q |
probably benign |
Het |
Reln |
A |
T |
5: 22,176,883 (GRCm39) |
W1928R |
possibly damaging |
Het |
Sacm1l |
A |
T |
9: 123,415,419 (GRCm39) |
R465* |
probably null |
Het |
Sema7a |
A |
G |
9: 57,863,046 (GRCm39) |
Y239C |
probably damaging |
Het |
Slc35e2 |
C |
T |
4: 155,694,483 (GRCm39) |
P10L |
probably benign |
Het |
Svep1 |
T |
C |
4: 58,044,054 (GRCm39) |
T3531A |
possibly damaging |
Het |
Tjp1 |
A |
T |
7: 65,004,609 (GRCm39) |
W19R |
probably damaging |
Het |
Tmc2 |
T |
A |
2: 130,083,564 (GRCm39) |
M507K |
possibly damaging |
Het |
Unc13a |
A |
G |
8: 72,095,795 (GRCm39) |
Y1241H |
probably damaging |
Het |
Upp1 |
C |
T |
11: 9,081,771 (GRCm39) |
P103S |
probably damaging |
Het |
Vldlr |
A |
G |
19: 27,221,624 (GRCm39) |
E663G |
probably damaging |
Het |
Vmn2r68 |
G |
A |
7: 84,886,767 (GRCm39) |
T49I |
possibly damaging |
Het |
Xirp2 |
A |
T |
2: 67,335,465 (GRCm39) |
M95L |
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 |
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'- GTGTCCCTGCACACCTATTAG -3'
(R):5'- AGACCCATGTCAGACAAGGC -3'
Sequencing Primer
(F):5'- AGCTAACTCACAGGTCCGTATTTG -3'
(R):5'- TGTCAGACAAGGCCTCCAATAG -3'
|
Posted On |
2016-11-08 |