Incidental Mutation 'R4493:Nfkb2'
ID |
330853 |
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 |
041748-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.612)
|
Stock # |
R4493 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
19 |
Chromosomal Location |
46292759-46300824 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 46296878 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 316
(D316G)
|
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: D316G
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000072859 Gene: ENSMUSG00000025225 AA Change: D316G
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: D316G
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000107512 Gene: ENSMUSG00000025225 AA Change: D316G
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 |
0.2738 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
Validation Efficiency |
94% (45/48) |
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: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Cacna1b |
T |
C |
2: 24,542,950 (GRCm39) |
T1301A |
probably damaging |
Het |
Ccdc141 |
A |
G |
2: 76,962,641 (GRCm39) |
V101A |
probably damaging |
Het |
Ccdc146 |
T |
C |
5: 21,508,191 (GRCm39) |
E619G |
possibly damaging |
Het |
Cfap91 |
T |
C |
16: 38,162,130 (GRCm39) |
T4A |
probably benign |
Het |
Cmya5 |
T |
C |
13: 93,230,573 (GRCm39) |
E1505G |
probably benign |
Het |
Cngb3 |
C |
A |
4: 19,367,778 (GRCm39) |
P229Q |
probably damaging |
Het |
Ctnna2 |
A |
G |
6: 76,958,831 (GRCm39) |
V461A |
probably damaging |
Het |
D430041D05Rik |
T |
C |
2: 104,086,684 (GRCm39) |
D764G |
probably benign |
Het |
Dgki |
T |
C |
6: 36,951,796 (GRCm39) |
|
probably benign |
Het |
Dhx36 |
A |
T |
3: 62,395,925 (GRCm39) |
|
probably benign |
Het |
Gcn1 |
T |
C |
5: 115,732,203 (GRCm39) |
I1006T |
probably benign |
Het |
Glt8d2 |
T |
A |
10: 82,500,547 (GRCm39) |
M20L |
possibly damaging |
Het |
Greb1 |
C |
A |
12: 16,748,611 (GRCm39) |
G1122V |
probably benign |
Het |
Hmcn1 |
A |
T |
1: 150,577,650 (GRCm39) |
I2037N |
probably damaging |
Het |
Hspa4l |
A |
G |
3: 40,722,434 (GRCm39) |
I340V |
possibly damaging |
Het |
Itpr3 |
A |
G |
17: 27,323,586 (GRCm39) |
K1204E |
probably damaging |
Het |
Kcnh8 |
GAGACCAACGAGCAGCTGATGCTTCAGA |
GAGA |
17: 53,032,934 (GRCm39) |
74 |
probably benign |
Het |
Lyst |
G |
A |
13: 13,809,968 (GRCm39) |
R546H |
probably damaging |
Het |
Mcph1 |
T |
A |
8: 18,681,752 (GRCm39) |
C296* |
probably null |
Het |
Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
Naga |
A |
G |
15: 82,216,715 (GRCm39) |
F259S |
probably damaging |
Het |
Nes |
A |
G |
3: 87,884,120 (GRCm39) |
E793G |
probably damaging |
Het |
Pcdha4 |
A |
T |
18: 37,087,644 (GRCm39) |
Y609F |
possibly damaging |
Het |
Pgam1 |
C |
T |
19: 41,904,215 (GRCm39) |
A104V |
possibly damaging |
Het |
Piezo2 |
T |
C |
18: 63,247,134 (GRCm39) |
I525V |
probably damaging |
Het |
Pold1 |
A |
G |
7: 44,187,132 (GRCm39) |
V683A |
probably damaging |
Het |
Poteg |
T |
C |
8: 27,970,125 (GRCm39) |
V316A |
possibly damaging |
Het |
Ppih |
A |
T |
4: 119,168,042 (GRCm39) |
N156K |
probably damaging |
Het |
Prep |
T |
C |
10: 44,996,915 (GRCm39) |
F398L |
probably benign |
Het |
Prlhr |
A |
T |
19: 60,455,519 (GRCm39) |
M349K |
probably benign |
Het |
Rtp4 |
A |
T |
16: 23,428,827 (GRCm39) |
H30L |
probably benign |
Het |
Stkld1 |
A |
G |
2: 26,836,638 (GRCm39) |
N268S |
probably benign |
Het |
Syt6 |
A |
G |
3: 103,492,946 (GRCm39) |
E66G |
probably damaging |
Het |
Tas2r129 |
A |
G |
6: 132,928,317 (GRCm39) |
I85V |
probably benign |
Het |
Tma16 |
C |
T |
8: 66,936,823 (GRCm39) |
|
probably null |
Het |
Tprn |
T |
C |
2: 25,158,904 (GRCm39) |
S643P |
probably damaging |
Het |
Trrap |
T |
C |
5: 144,767,858 (GRCm39) |
V2605A |
probably benign |
Het |
Vmn1r230 |
T |
A |
17: 21,066,863 (GRCm39) |
N17K |
probably benign |
Het |
Xkrx |
T |
C |
X: 133,051,745 (GRCm39) |
N302S |
possibly damaging |
Het |
Zfp946 |
T |
A |
17: 22,670,067 (GRCm39) |
|
probably null |
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 |
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 |
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'- ATGGATGGCAAGCCTTTGGG -3'
(R):5'- GGGGTGTTAAAACCTAATATGGGTC -3'
Sequencing Primer
(F):5'- GCAAGCCTTTGGGGACTTCTC -3'
(R):5'- GTCAGACCCTAGATTCCTCAAGCTG -3'
|
Posted On |
2015-07-21 |