Incidental Mutation 'R0270:Nfkb2'
ID 35275
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 038496-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.586) question?
Stock # R0270 (G1)
Quality Score 151
Status Validated
Chromosome 19
Chromosomal Location 46292759-46300824 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 46300065 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 838 (M838L)
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 possibly damaging
Transcript: ENSMUST00000073116
AA Change: M838L

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000072859
Gene: ENSMUSG00000025225
AA Change: M838L

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 possibly damaging
Transcript: ENSMUST00000111881
AA Change: M838L

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000107512
Gene: ENSMUSG00000025225
AA Change: M838L

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226062
Meta Mutation Damage Score 0.0605 question?
Coding Region Coverage
  • 1x: 98.7%
  • 3x: 97.7%
  • 10x: 96.0%
  • 20x: 93.2%
Validation Efficiency 99% (113/114)
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: 109 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110009E18Rik T A 1: 120,093,906 (GRCm39) probably benign Het
Aadacl2fm3 T A 3: 59,784,440 (GRCm39) N304K probably benign Het
Abcf3 T A 16: 20,378,918 (GRCm39) probably null Het
Acadm C T 3: 153,641,961 (GRCm39) M190I possibly damaging Het
Adamtsl3 G A 7: 82,206,032 (GRCm39) R739Q probably damaging Het
Ank1 T A 8: 23,578,941 (GRCm39) probably benign Het
Ap3b1 T A 13: 94,540,626 (GRCm39) probably benign Het
Arhgdib A G 6: 136,903,732 (GRCm39) V31A probably damaging Het
Arid4a A G 12: 71,119,406 (GRCm39) R342G probably damaging Het
Asic3 C T 5: 24,622,700 (GRCm39) L517F probably benign Het
Atxn7l1 C T 12: 33,392,150 (GRCm39) P242L possibly damaging Het
AY761185 T A 8: 21,434,616 (GRCm39) E37D possibly damaging Het
Babam1 T A 8: 71,851,050 (GRCm39) D104E probably damaging Het
Batf A T 12: 85,755,446 (GRCm39) T100S probably benign Het
Blcap A T 2: 157,399,897 (GRCm39) Y59* probably null Het
Cacnb3 G A 15: 98,540,440 (GRCm39) A350T probably damaging Het
Cdk15 T A 1: 59,349,965 (GRCm39) V319D probably damaging Het
Cenpf T C 1: 189,382,911 (GRCm39) H2661R probably benign Het
Cenpq T C 17: 41,240,941 (GRCm39) E106G probably damaging Het
Cfap43 A G 19: 47,785,642 (GRCm39) probably benign Het
Cfb G A 17: 35,079,362 (GRCm39) S778L possibly damaging Het
Clec2m A T 6: 129,302,571 (GRCm39) L152* probably null Het
Clspn T A 4: 126,467,029 (GRCm39) N631K probably damaging Het
Cntn2 T A 1: 132,449,462 (GRCm39) T660S probably damaging Het
Cntrob T A 11: 69,202,167 (GRCm39) H475L possibly damaging Het
Ddx46 T C 13: 55,821,917 (GRCm39) I863T probably benign Het
Dnah11 G A 12: 118,004,748 (GRCm39) T2191I probably damaging Het
Dock9 T C 14: 121,813,411 (GRCm39) T1703A probably benign Het
Fam13c C T 10: 70,380,343 (GRCm39) P424S probably benign Het
Fan1 T C 7: 63,998,619 (GRCm39) N968D probably benign Het
Fbxl20 A T 11: 97,989,329 (GRCm39) probably benign Het
Fkbp1b A T 12: 4,888,229 (GRCm39) probably benign Het
G930045G22Rik T A 6: 50,824,039 (GRCm39) noncoding transcript Het
Gm28042 C A 2: 119,872,073 (GRCm39) R1008S probably benign Het
Gon4l G A 3: 88,765,707 (GRCm39) S376N probably damaging Het
Gstt3 C A 10: 75,616,749 (GRCm39) R15L probably damaging Het
Gtdc1 A T 2: 44,642,186 (GRCm39) S73T possibly damaging Het
Hhatl A G 9: 121,613,786 (GRCm39) S419P probably benign Het
Hirip3 T G 7: 126,462,363 (GRCm39) S46R probably damaging Het
Hsf2 A G 10: 57,378,735 (GRCm39) T204A probably benign Het
Impg2 G A 16: 56,089,378 (GRCm39) E1108K possibly damaging Het
Itgb2l G T 16: 96,224,130 (GRCm39) probably benign Het
Itih5 A T 2: 10,256,075 (GRCm39) N847I probably benign Het
Kif1a T C 1: 92,982,164 (GRCm39) probably benign Het
Klhl1 T A 14: 96,755,780 (GRCm39) probably benign Het
Ktn1 T A 14: 47,952,119 (GRCm39) D963E probably benign Het
Lclat1 T A 17: 73,547,022 (GRCm39) V313E probably benign Het
Lrrn4 T C 2: 132,712,639 (GRCm39) S395G probably benign Het
Macroh2a1 G A 13: 56,243,927 (GRCm39) probably benign Het
Mbtps1 G A 8: 120,264,856 (GRCm39) probably benign Het
Me1 A G 9: 86,478,257 (GRCm39) probably benign Het
Mov10 C A 3: 104,702,721 (GRCm39) C948F probably benign Het
Mterf1a G A 5: 3,940,990 (GRCm39) Q293* probably null Het
Nhlrc2 T A 19: 56,540,302 (GRCm39) L97Q probably damaging Het
Nr6a1 A T 2: 38,629,032 (GRCm39) Y331N possibly damaging Het
Nup214 C T 2: 31,924,826 (GRCm39) A1785V probably damaging Het
Ogg1 C T 6: 113,306,217 (GRCm39) T138I probably benign Het
Or5ac20 A G 16: 59,104,116 (GRCm39) V248A probably damaging Het
Or5b107 A G 19: 13,143,251 (GRCm39) Y291C probably damaging Het
Or5b124 A G 19: 13,611,048 (GRCm39) Y191C probably damaging Het
Or7g17 T A 9: 18,768,127 (GRCm39) Y60N probably damaging Het
Plod2 G T 9: 92,466,574 (GRCm39) R178L probably benign Het
Polr3b T A 10: 84,554,339 (GRCm39) L1017Q probably benign Het
Postn C A 3: 54,291,971 (GRCm39) T724N probably damaging Het
Ppm1l T G 3: 69,225,309 (GRCm39) probably benign Het
Prpf8 T G 11: 75,396,075 (GRCm39) L1983R probably damaging Het
Psma7 A G 2: 179,681,193 (GRCm39) V59A probably benign Het
Qser1 T A 2: 104,619,306 (GRCm39) Y502F probably benign Het
Rad50 T C 11: 53,558,852 (GRCm39) D1129G probably damaging Het
Rasal1 C A 5: 120,812,794 (GRCm39) P606Q probably damaging Het
Rgs6 A G 12: 83,180,463 (GRCm39) Y438C probably damaging Het
Rnf180 A G 13: 105,388,774 (GRCm39) C73R probably benign Het
Rnf216 T A 5: 143,065,996 (GRCm39) I474F possibly damaging Het
Sdha A T 13: 74,480,366 (GRCm39) L371Q probably damaging Het
Sdk1 T G 5: 142,070,321 (GRCm39) L1162R possibly damaging Het
Sh3rf2 T C 18: 42,237,146 (GRCm39) I223T probably damaging Het
Sirpb1a A G 3: 15,475,587 (GRCm39) V316A probably damaging Het
Slc12a4 A T 8: 106,672,021 (GRCm39) I897N probably benign Het
Slc35d1 A T 4: 103,048,035 (GRCm39) V243E probably damaging Het
Slc4a11 T A 2: 130,532,852 (GRCm39) K200N possibly damaging Het
Slc9a8 T A 2: 167,293,216 (GRCm39) M188K probably damaging Het
Slco1a8 T A 6: 141,918,137 (GRCm39) I580F possibly damaging Het
Snrnp200 T C 2: 127,074,902 (GRCm39) S1492P probably damaging Het
Sphk2 T C 7: 45,360,149 (GRCm39) *618W probably null Het
Sytl2 T C 7: 90,052,228 (GRCm39) probably benign Het
Tdpoz3 A G 3: 93,734,231 (GRCm39) N302S probably benign Het
Tdrd6 T C 17: 43,935,199 (GRCm39) M1950V probably benign Het
Tmem39a A G 16: 38,384,675 (GRCm39) probably benign Het
Trip4 A T 9: 65,765,640 (GRCm39) I353K probably damaging Het
Trip6 A T 5: 137,311,103 (GRCm39) F204L probably benign Het
Trpm4 T A 7: 44,968,677 (GRCm39) I419F possibly damaging Het
Ttn C A 2: 76,775,140 (GRCm39) E1967D probably damaging Het
Uba2 C T 7: 33,850,281 (GRCm39) V391M possibly damaging Het
Ubr4 T G 4: 139,206,746 (GRCm39) probably benign Het
Upf1 G A 8: 70,788,295 (GRCm39) probably benign Het
Vmn1r228 A C 17: 20,996,858 (GRCm39) V220G possibly damaging Het
Vmn2r79 A G 7: 86,652,594 (GRCm39) M429V probably benign Het
Vps36 C T 8: 22,700,472 (GRCm39) T210I possibly damaging Het
Wdr17 C T 8: 55,146,131 (GRCm39) A90T possibly damaging Het
Ybx1 C T 4: 119,138,788 (GRCm39) G126D probably benign Het
Yipf5 C A 18: 40,339,460 (GRCm39) probably benign Het
Zbtb47 A G 9: 121,596,641 (GRCm39) T666A probably benign Het
Zdhhc5 A C 2: 84,520,459 (GRCm39) S573A probably benign Het
Zfp457 A T 13: 67,441,991 (GRCm39) C99S probably damaging Het
Zfp52 T A 17: 21,781,564 (GRCm39) C471S probably damaging Het
Zfp558 C T 9: 18,379,252 (GRCm39) V71I probably damaging Het
Zfp655 A G 5: 145,181,267 (GRCm39) Y375C probably damaging Het
Zfp882 A T 8: 72,668,459 (GRCm39) T429S probably benign Het
Zmym2 T C 14: 57,187,141 (GRCm39) probably null 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
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
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'- GTTGAGAAGCCTGGTGGACACATAC -3'
(R):5'- ACATTGGGGTTGCTGTACCGTAAG -3'

Sequencing Primer
(F):5'- CGGCAGTCTCCTTCGTAG -3'
(R):5'- ATTTGACCCACCGAGATGTG -3'
Posted On 2013-05-09