Incidental Mutation 'R4839:Nfkb2'
ID 371683
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
Accession Numbers
Essential gene? Possibly essential (E-score: 0.586) question?
Stock # R4839 (G1)
Quality Score 225
Status Not validated
Chromosome 19
Chromosomal Location 46292759-46300824 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 46296006 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Aspartic acid at position 170 (E170D)
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

DomainStartEndE-ValueType
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 benign
Transcript: ENSMUST00000073116
AA Change: E170D

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000072859
Gene: ENSMUSG00000025225
AA Change: E170D

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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 benign
Transcript: ENSMUST00000111881
AA Change: E170D

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000107512
Gene: ENSMUSG00000025225
AA Change: E170D

DomainStartEndE-ValueType
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 0.0839 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.8%
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: 93 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700010I14Rik T A 17: 9,226,845 (GRCm39) S467T probably benign Het
2310030G06Rik A T 9: 50,652,023 (GRCm39) Y68* probably null Het
Abat T G 16: 8,401,512 (GRCm39) probably benign Het
Abca2 C T 2: 25,330,921 (GRCm39) S1203F probably damaging Het
Adam22 G A 5: 8,186,813 (GRCm39) P436L probably damaging Het
Ak3 A C 19: 29,025,132 (GRCm39) L33R probably damaging Het
Arhgap11a A T 2: 113,672,374 (GRCm39) I198K probably damaging Het
Arl14epl A T 18: 47,065,544 (GRCm39) K103M possibly damaging Het
Atg16l1 T A 1: 87,693,896 (GRCm39) N65K probably damaging Het
Btnl2 G A 17: 34,584,260 (GRCm39) W394* probably null Het
Cacna1e C A 1: 154,296,804 (GRCm39) R1687L probably damaging Het
Cacna1g G T 11: 94,350,433 (GRCm39) R471S probably benign Het
Cdh13 A T 8: 119,578,587 (GRCm39) R205* probably null Het
Cdkl3 A T 11: 51,895,861 (GRCm39) Y36F probably damaging Het
Cep290 T A 10: 100,344,648 (GRCm39) N488K probably damaging Het
Cep350 A T 1: 155,804,240 (GRCm39) C948S probably benign Het
Cep70 A G 9: 99,178,138 (GRCm39) K446R probably benign Het
Cfap70 T C 14: 20,475,597 (GRCm39) T375A probably damaging Het
Cfhr1 A G 1: 139,487,871 (GRCm39) L9S probably damaging Het
Chrm4 T A 2: 91,757,952 (GRCm39) M120K probably damaging Het
Col1a1 A G 11: 94,840,921 (GRCm39) probably null Het
Col3a1 T C 1: 45,362,963 (GRCm39) probably null Het
Csrnp3 A T 2: 65,852,375 (GRCm39) R256* probably null Het
Dbf4 T A 5: 8,458,263 (GRCm39) K190* probably null Het
Dnah10 A T 5: 124,850,196 (GRCm39) I1573F probably damaging Het
Dock8 A G 19: 25,146,858 (GRCm39) I1446V probably benign Het
Dst G T 1: 34,229,943 (GRCm39) R2187M probably damaging Het
Ece2 C T 16: 20,449,918 (GRCm39) R257C probably damaging Het
Espn A G 4: 152,222,961 (GRCm39) Y306H probably damaging Het
Fkbpl G A 17: 34,864,839 (GRCm39) M202I probably benign Het
Fn1 A G 1: 71,681,242 (GRCm39) L362P probably damaging Het
Ganc A C 2: 120,290,304 (GRCm39) R880S probably benign Het
Gucy1b2 A T 14: 62,685,695 (GRCm39) L90Q probably damaging Het
Hcn1 T A 13: 118,062,246 (GRCm39) I504N unknown Het
Hdac2 C A 10: 36,873,462 (GRCm39) T352K probably benign Het
Hip1 T C 5: 135,455,172 (GRCm39) probably null Het
Hspa13 G A 16: 75,562,169 (GRCm39) S10L probably damaging Het
Ipo5 T C 14: 121,157,450 (GRCm39) I96T probably benign Het
Isl1 T C 13: 116,438,220 (GRCm39) Y264C probably damaging Het
Izumo1 T C 7: 45,275,657 (GRCm39) I322T probably benign Het
Kars1 A C 8: 112,729,158 (GRCm39) V183G possibly damaging Het
Lrrc15 C A 16: 30,093,086 (GRCm39) M84I probably benign Het
Magi1 A T 6: 93,671,177 (GRCm39) V796E probably damaging Het
Matn4 G T 2: 164,242,896 (GRCm39) D67E probably benign Het
Mertk A G 2: 128,624,496 (GRCm39) M636V probably damaging Het
Mettl27 C A 5: 134,963,266 (GRCm39) P126T probably damaging Het
Mfrp T A 9: 44,013,432 (GRCm39) H52Q possibly damaging Het
Mrgprb8 T G 7: 48,038,656 (GRCm39) I109R probably benign Het
Mroh2a G A 1: 88,165,666 (GRCm39) G512S probably damaging Het
Ncoa7 T A 10: 30,598,655 (GRCm39) R89S possibly damaging Het
Nin G T 12: 70,137,325 (GRCm39) H84N possibly damaging Het
Nwd2 A T 5: 63,962,893 (GRCm39) I826F possibly damaging Het
Or10d1 A G 9: 39,484,441 (GRCm39) M38T probably benign Het
Or14c43 T C 7: 86,115,117 (GRCm39) F166S probably damaging Het
Or1j11 G A 2: 36,312,012 (GRCm39) V201I probably benign Het
Or4l15 C T 14: 50,197,646 (GRCm39) M294I probably benign Het
Or52a5b T C 7: 103,416,961 (GRCm39) I214M possibly damaging Het
Or5k3 A G 16: 58,969,393 (GRCm39) Y60C probably damaging Het
Or5p73 T C 7: 108,064,938 (GRCm39) S136P probably benign Het
Otof C T 5: 30,576,748 (GRCm39) R168H probably damaging Het
Pcdha6 T C 18: 37,101,485 (GRCm39) V226A possibly damaging Het
Pggt1b T C 18: 46,391,166 (GRCm39) I200V possibly damaging Het
Ppat G A 5: 77,098,811 (GRCm39) Q41* probably null Het
Ppfibp2 A T 7: 107,342,192 (GRCm39) H27L probably damaging Het
Rbm27 T A 18: 42,460,510 (GRCm39) I775N probably damaging Het
Rnf40 C T 7: 127,191,812 (GRCm39) R349* probably null Het
Rtp3 A T 9: 110,818,544 (GRCm39) W46R probably damaging Het
Sass6 C T 3: 116,403,949 (GRCm39) R196W probably damaging Het
Sel1l A T 12: 91,799,932 (GRCm39) D131E probably benign Het
Slain2 T C 5: 73,106,066 (GRCm39) S234P probably damaging Het
Slc47a1 C T 11: 61,264,176 (GRCm39) probably null Het
Sp140 CAGAAGAAG CAGAAG 1: 85,538,529 (GRCm39) probably benign Het
Spata31e2 T C 1: 26,724,440 (GRCm39) T247A probably benign Het
Spef2 A T 15: 9,713,264 (GRCm39) Y369* probably null Het
Spred2 T A 11: 19,948,233 (GRCm39) M76K possibly damaging Het
Svs5 T A 2: 164,078,806 (GRCm39) D367V probably benign Het
Tasor2 G A 13: 3,634,807 (GRCm39) P667S probably damaging Het
Tefm A T 11: 80,027,947 (GRCm39) D270E probably benign Het
Tfcp2l1 C A 1: 118,597,194 (GRCm39) P425H probably benign Het
Thbd A T 2: 148,248,591 (GRCm39) C426S probably damaging Het
Timm10b T A 7: 105,333,219 (GRCm39) D968E probably damaging Het
Tle2 C T 10: 81,413,518 (GRCm39) T119I probably damaging Het
Tnik T A 3: 28,650,224 (GRCm39) Y446N possibly damaging Het
Tpr T A 1: 150,324,948 (GRCm39) L2400* probably null Het
Trrap T C 5: 144,782,402 (GRCm39) F3328S probably damaging Het
Vldlr G A 19: 27,215,465 (GRCm39) C154Y probably damaging Het
Vmn1r79 T G 7: 11,910,361 (GRCm39) M81R probably benign Het
Vps13d T C 4: 144,812,000 (GRCm39) T3305A possibly damaging Het
Wdr62 T C 7: 29,970,111 (GRCm39) E232G probably damaging Het
Wdr62 T A 7: 29,940,890 (GRCm39) I843F probably benign Het
Zfp747l1 T C 7: 126,984,179 (GRCm39) S308G probably benign Het
Zfp873 T A 10: 81,896,353 (GRCm39) H361Q probably damaging Het
Zfp949 A C 9: 88,452,047 (GRCm39) H539P probably damaging Het
Other mutations in Nfkb2
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- AATCTGGGTGTCCTGCATGTAAC -3'
(R):5'- ATCTCAAGCGCTCTTTTGGG -3'

Sequencing Primer
(F):5'- TGTCCTGCATGTAACCAAGAAG -3'
(R):5'- CAAGCGCTCTTTTGGGAATGC -3'
Posted On 2016-03-01