Incidental Mutation 'R6393:N4bp2'
ID 515865
Institutional Source Beutler Lab
Gene Symbol N4bp2
Ensembl Gene ENSMUSG00000037795
Gene Name NEDD4 binding protein 2
Synonyms LOC333789, B3bp, LOC386488
MMRRC Submission 044542-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.165) question?
Stock # R6393 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 65920864-65987451 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 65948344 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 325 (S325P)
Ref Sequence ENSEMBL: ENSMUSP00000144278 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000087264] [ENSMUST00000201489] [ENSMUST00000201615]
AlphaFold F8VQG7
Predicted Effect possibly damaging
Transcript: ENSMUST00000087264
AA Change: S325P

PolyPhen 2 Score 0.650 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000084519
Gene: ENSMUSG00000037795
AA Change: S325P

DomainStartEndE-ValueType
low complexity region 109 130 N/A INTRINSIC
low complexity region 271 283 N/A INTRINSIC
Pfam:AAA_33 365 499 1.1e-15 PFAM
low complexity region 533 546 N/A INTRINSIC
low complexity region 619 629 N/A INTRINSIC
low complexity region 681 692 N/A INTRINSIC
low complexity region 847 864 N/A INTRINSIC
low complexity region 1079 1090 N/A INTRINSIC
Blast:CUE 1430 1472 1e-9 BLAST
low complexity region 1496 1511 N/A INTRINSIC
DUF1771 1526 1591 1.88e-21 SMART
SMR 1596 1678 1.09e-14 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000201489
AA Change: S325P

PolyPhen 2 Score 0.650 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000143807
Gene: ENSMUSG00000037795
AA Change: S325P

DomainStartEndE-ValueType
low complexity region 109 130 N/A INTRINSIC
low complexity region 271 283 N/A INTRINSIC
Pfam:AAA_33 365 499 1e-14 PFAM
low complexity region 533 546 N/A INTRINSIC
low complexity region 619 629 N/A INTRINSIC
low complexity region 681 692 N/A INTRINSIC
low complexity region 847 864 N/A INTRINSIC
low complexity region 1079 1090 N/A INTRINSIC
Blast:CUE 1430 1472 1e-9 BLAST
low complexity region 1496 1511 N/A INTRINSIC
DUF1771 1526 1591 1.88e-21 SMART
SMR 1596 1678 1.09e-14 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000201615
AA Change: S325P

PolyPhen 2 Score 0.811 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000144278
Gene: ENSMUSG00000037795
AA Change: S325P

DomainStartEndE-ValueType
low complexity region 109 130 N/A INTRINSIC
low complexity region 271 283 N/A INTRINSIC
Pfam:AAA_33 365 499 1.2e-14 PFAM
low complexity region 533 546 N/A INTRINSIC
low complexity region 619 629 N/A INTRINSIC
low complexity region 681 692 N/A INTRINSIC
low complexity region 847 864 N/A INTRINSIC
low complexity region 1079 1090 N/A INTRINSIC
Blast:CUE 1430 1472 8e-10 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202934
Meta Mutation Damage Score 0.0849 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.1%
  • 20x: 96.8%
Validation Efficiency 99% (70/71)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein containing a polynucleotide kinase domain (PNK) near the N-terminal region, and a Small MutS Related (Smr) domain near the C-terminal region. The encoded protein can bind to both B-cell leukemia/lymphoma 3 (BCL-3) and neural precursor cell expressed, developmentally downregulated 4, (Nedd4) proteins. This protein binds and hydrolyzes ATP, may function as a 5'-polynucleotide kinase, and has the capacity to be a ubiquitylation substrate. This protein may play a role in transcription-coupled DNA repair or genetic recombination. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016]
Allele List at MGI

All alleles(9) : Targeted, other(2) Gene trapped(7)

Other mutations in this stock
Total: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A130010J15Rik A G 1: 192,856,690 (GRCm39) Q14R possibly damaging Het
Adamts12 A G 15: 11,255,721 (GRCm39) D430G probably damaging Het
Agxt2 T C 15: 10,393,894 (GRCm39) probably null Het
Akirin1 T G 4: 123,637,324 (GRCm39) Q87P possibly damaging Het
Ank2 G A 3: 126,723,406 (GRCm39) R974C probably damaging Het
Arhgap23 A G 11: 97,354,498 (GRCm39) I804V probably damaging Het
Arhgef28 A T 13: 98,130,527 (GRCm39) L437Q possibly damaging Het
Atp8a2 G T 14: 60,011,204 (GRCm39) Y967* probably null Het
Calcr A G 6: 3,708,586 (GRCm39) L200S probably damaging Het
Ccdc80 T A 16: 44,916,828 (GRCm39) V528D possibly damaging Het
Chd6 A G 2: 160,821,407 (GRCm39) Y1296H probably damaging Het
Chst13 G A 6: 90,302,063 (GRCm39) R28C possibly damaging Het
Clrn1 A G 3: 58,753,741 (GRCm39) F207L probably damaging Het
Col12a1 T C 9: 79,562,767 (GRCm39) T1772A probably damaging Het
Cubn T C 2: 13,360,491 (GRCm39) T1744A probably benign Het
Dchs2 A G 3: 83,037,218 (GRCm39) E655G probably damaging Het
Dnajb3 T A 1: 88,133,384 (GRCm39) E6V possibly damaging Het
Dock5 G A 14: 68,060,051 (GRCm39) P463S probably benign Het
Eif4a3l1 A G 6: 136,305,596 (GRCm39) K19R probably benign Het
Fancd2 T A 6: 113,555,374 (GRCm39) C1128S probably benign Het
Fcrl5 G A 3: 87,355,634 (GRCm39) G449E probably damaging Het
Frem2 G T 3: 53,493,061 (GRCm39) N1818K possibly damaging Het
Gm21149 C A 5: 15,678,037 (GRCm39) V187L possibly damaging Het
Gpat2 G C 2: 127,273,838 (GRCm39) G294R possibly damaging Het
Gstm7 A G 3: 107,838,142 (GRCm39) probably null Het
Htr1b T A 9: 81,513,810 (GRCm39) I266F probably benign Het
Jakmip3 T C 7: 138,620,900 (GRCm39) I305T probably damaging Het
Kif13a C T 13: 46,905,931 (GRCm39) V671M possibly damaging Het
Kifc5b T C 17: 27,140,816 (GRCm39) C97R probably benign Het
Klhl30 A T 1: 91,288,912 (GRCm39) H557L probably damaging Het
Lama3 T C 18: 12,612,813 (GRCm39) V1199A probably benign Het
Lmbr1 A G 5: 29,459,292 (GRCm39) L246P probably damaging Het
M6pr T C 6: 122,292,339 (GRCm39) L178P possibly damaging Het
Med17 A G 9: 15,185,879 (GRCm39) S212P probably damaging Het
Med23 T A 10: 24,749,374 (GRCm39) S31T possibly damaging Het
Morc2b T G 17: 33,356,750 (GRCm39) T341P probably damaging Het
Mre11a A G 9: 14,696,805 (GRCm39) M1V probably null Het
Mrpl17 T C 7: 105,459,122 (GRCm39) H158R probably benign Het
Mstn A G 1: 53,105,648 (GRCm39) Q330R probably benign Het
Muc16 T A 9: 18,558,695 (GRCm39) K2533* probably null Het
Nadk A G 4: 155,673,808 (GRCm39) Y399C possibly damaging Het
Nbea A C 3: 55,998,540 (GRCm39) L89R probably damaging Het
Ncoa1 A G 12: 4,328,181 (GRCm39) F775L probably benign Het
Ndufa11 C A 17: 57,028,331 (GRCm39) A70E probably damaging Het
Nfx1 A G 4: 40,976,851 (GRCm39) Y175C possibly damaging Het
Or10q3 A T 19: 11,848,091 (GRCm39) L163Q probably damaging Het
Or12e9 A G 2: 87,201,909 (GRCm39) N11S probably damaging Het
Pcsk6 T C 7: 65,618,762 (GRCm39) S443P probably damaging Het
Pcsk9 T C 4: 106,304,793 (GRCm39) D425G probably benign Het
Pdcd1lg2 T A 19: 29,414,698 (GRCm39) C42S probably damaging Het
Peg10 GC GCTCC 6: 4,756,452 (GRCm39) probably benign Het
Rbm46 G A 3: 82,771,262 (GRCm39) T451M probably benign Het
Rcan2 T A 17: 44,264,370 (GRCm39) V10D probably benign Het
Rpl7l1 T C 17: 47,093,548 (GRCm39) E4G probably benign Het
Rptn A G 3: 93,304,506 (GRCm39) E613G probably benign Het
Sbk2 T C 7: 4,960,621 (GRCm39) D183G probably damaging Het
Slc15a4 C T 5: 127,693,950 (GRCm39) A162T probably benign Het
Slc30a4 A G 2: 122,527,966 (GRCm39) W315R probably damaging Het
Slc39a14 G C 14: 70,547,262 (GRCm39) F361L probably benign Het
Slc6a13 T C 6: 121,313,801 (GRCm39) Y515H possibly damaging Het
Slitrk3 C A 3: 72,957,247 (GRCm39) K508N possibly damaging Het
Stard4 T C 18: 33,338,278 (GRCm39) D144G probably benign Het
Tlr9 T C 9: 106,102,136 (GRCm39) F476L probably damaging Het
Tshz1 A T 18: 84,031,345 (GRCm39) V1021D probably damaging Het
Vmn1r54 A T 6: 90,246,304 (GRCm39) I73F probably benign Het
Vmn2r19 A C 6: 123,293,112 (GRCm39) S385R possibly damaging Het
Xkr5 A G 8: 18,998,716 (GRCm39) L34P probably damaging Het
Xpo4 A G 14: 57,875,770 (GRCm39) V121A probably damaging Het
Zbtb40 T A 4: 136,712,177 (GRCm39) H268L probably null Het
Zfp865 T C 7: 5,033,065 (GRCm39) F350S probably damaging Het
Zscan4b T C 7: 10,634,828 (GRCm39) I472V possibly damaging Het
Other mutations in N4bp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00484:N4bp2 APN 5 65,964,867 (GRCm39) missense probably damaging 0.96
IGL01503:N4bp2 APN 5 65,960,890 (GRCm39) nonsense probably null 0.00
IGL01621:N4bp2 APN 5 65,948,267 (GRCm39) missense probably damaging 1.00
IGL02109:N4bp2 APN 5 65,955,477 (GRCm39) missense probably damaging 1.00
IGL02286:N4bp2 APN 5 65,960,895 (GRCm39) missense probably damaging 1.00
1mM(1):N4bp2 UTSW 5 65,965,020 (GRCm39) missense probably damaging 1.00
IGL03046:N4bp2 UTSW 5 65,948,303 (GRCm39) missense probably damaging 1.00
R0164:N4bp2 UTSW 5 65,960,916 (GRCm39) splice site probably benign
R0285:N4bp2 UTSW 5 65,963,902 (GRCm39) missense probably benign 0.00
R0366:N4bp2 UTSW 5 65,963,739 (GRCm39) missense possibly damaging 0.95
R0548:N4bp2 UTSW 5 65,965,496 (GRCm39) missense probably benign 0.39
R0551:N4bp2 UTSW 5 65,977,684 (GRCm39) splice site probably null
R0671:N4bp2 UTSW 5 65,964,780 (GRCm39) missense probably damaging 0.99
R1136:N4bp2 UTSW 5 65,965,815 (GRCm39) missense probably damaging 1.00
R1515:N4bp2 UTSW 5 65,947,841 (GRCm39) missense probably benign 0.01
R1597:N4bp2 UTSW 5 65,964,483 (GRCm39) missense probably benign 0.45
R1628:N4bp2 UTSW 5 65,960,915 (GRCm39) splice site probably null
R1722:N4bp2 UTSW 5 65,964,225 (GRCm39) missense probably benign 0.08
R1735:N4bp2 UTSW 5 65,965,659 (GRCm39) missense probably damaging 1.00
R1745:N4bp2 UTSW 5 65,948,165 (GRCm39) missense probably benign 0.12
R1759:N4bp2 UTSW 5 65,983,956 (GRCm39) missense probably damaging 1.00
R1799:N4bp2 UTSW 5 65,964,168 (GRCm39) missense possibly damaging 0.62
R1846:N4bp2 UTSW 5 65,965,862 (GRCm39) missense probably damaging 1.00
R1872:N4bp2 UTSW 5 65,951,861 (GRCm39) splice site probably benign
R2042:N4bp2 UTSW 5 65,983,964 (GRCm39) missense probably damaging 1.00
R2082:N4bp2 UTSW 5 65,964,908 (GRCm39) missense probably damaging 1.00
R2101:N4bp2 UTSW 5 65,948,224 (GRCm39) missense probably damaging 1.00
R2147:N4bp2 UTSW 5 65,966,543 (GRCm39) missense probably damaging 1.00
R2251:N4bp2 UTSW 5 65,964,071 (GRCm39) missense probably damaging 1.00
R2507:N4bp2 UTSW 5 65,947,404 (GRCm39) missense probably benign 0.01
R2508:N4bp2 UTSW 5 65,947,404 (GRCm39) missense probably benign 0.01
R2919:N4bp2 UTSW 5 65,964,441 (GRCm39) missense probably benign 0.22
R3086:N4bp2 UTSW 5 65,948,396 (GRCm39) missense probably damaging 1.00
R4092:N4bp2 UTSW 5 65,947,799 (GRCm39) missense probably benign 0.02
R4177:N4bp2 UTSW 5 65,955,513 (GRCm39) splice site probably null
R4718:N4bp2 UTSW 5 65,960,806 (GRCm39) missense probably damaging 1.00
R4859:N4bp2 UTSW 5 65,982,641 (GRCm39) missense probably damaging 1.00
R4863:N4bp2 UTSW 5 65,965,473 (GRCm39) missense probably benign 0.22
R4915:N4bp2 UTSW 5 65,960,847 (GRCm39) missense probably damaging 1.00
R4949:N4bp2 UTSW 5 65,979,142 (GRCm39) splice site probably null
R4978:N4bp2 UTSW 5 65,947,583 (GRCm39) missense probably damaging 1.00
R5029:N4bp2 UTSW 5 65,972,123 (GRCm39) missense probably damaging 1.00
R5079:N4bp2 UTSW 5 65,969,320 (GRCm39) missense probably damaging 1.00
R5097:N4bp2 UTSW 5 65,974,561 (GRCm39) missense probably damaging 1.00
R5158:N4bp2 UTSW 5 65,965,805 (GRCm39) missense probably damaging 0.99
R5228:N4bp2 UTSW 5 65,964,861 (GRCm39) missense probably benign
R5322:N4bp2 UTSW 5 65,947,800 (GRCm39) missense possibly damaging 0.76
R5554:N4bp2 UTSW 5 65,965,457 (GRCm39) missense probably benign 0.44
R5731:N4bp2 UTSW 5 65,966,500 (GRCm39) missense probably damaging 1.00
R5840:N4bp2 UTSW 5 65,965,437 (GRCm39) missense probably damaging 0.99
R6767:N4bp2 UTSW 5 65,974,530 (GRCm39) missense probably damaging 1.00
R7103:N4bp2 UTSW 5 65,964,189 (GRCm39) missense probably benign 0.01
R7112:N4bp2 UTSW 5 65,948,050 (GRCm39) missense possibly damaging 0.74
R7171:N4bp2 UTSW 5 65,965,365 (GRCm39) missense probably benign 0.00
R7177:N4bp2 UTSW 5 65,964,891 (GRCm39) missense probably damaging 1.00
R7240:N4bp2 UTSW 5 65,951,888 (GRCm39) missense probably damaging 0.96
R7353:N4bp2 UTSW 5 65,963,714 (GRCm39) missense probably benign 0.01
R7450:N4bp2 UTSW 5 65,982,643 (GRCm39) nonsense probably null
R7560:N4bp2 UTSW 5 65,948,458 (GRCm39) missense probably damaging 0.99
R7698:N4bp2 UTSW 5 65,965,500 (GRCm39) missense probably benign 0.00
R7743:N4bp2 UTSW 5 65,965,802 (GRCm39) missense probably damaging 1.00
R7871:N4bp2 UTSW 5 65,964,446 (GRCm39) missense probably benign 0.00
R7981:N4bp2 UTSW 5 65,969,485 (GRCm39) missense probably benign 0.41
R8065:N4bp2 UTSW 5 65,964,639 (GRCm39) missense probably damaging 0.99
R8067:N4bp2 UTSW 5 65,964,639 (GRCm39) missense probably damaging 0.99
R8164:N4bp2 UTSW 5 65,966,566 (GRCm39) missense probably damaging 1.00
R8166:N4bp2 UTSW 5 65,977,655 (GRCm39) missense probably benign 0.39
R8331:N4bp2 UTSW 5 65,964,943 (GRCm39) missense probably damaging 1.00
R8559:N4bp2 UTSW 5 65,982,628 (GRCm39) missense possibly damaging 0.62
R8806:N4bp2 UTSW 5 65,965,551 (GRCm39) missense possibly damaging 0.63
R9287:N4bp2 UTSW 5 65,960,855 (GRCm39) missense probably benign 0.38
R9369:N4bp2 UTSW 5 65,964,259 (GRCm39) missense probably damaging 0.97
R9460:N4bp2 UTSW 5 65,963,886 (GRCm39) missense probably benign 0.00
R9462:N4bp2 UTSW 5 65,947,898 (GRCm39) missense probably benign 0.02
R9605:N4bp2 UTSW 5 65,963,879 (GRCm39) missense probably benign 0.02
R9641:N4bp2 UTSW 5 65,948,035 (GRCm39) missense probably benign 0.15
Z1177:N4bp2 UTSW 5 65,964,980 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AATTACTGCCCGGTGCTCAC -3'
(R):5'- CAATCCGTGCACTATACCTTCTAAC -3'

Sequencing Primer
(F):5'- GGTGCTCACCCCTCTTCC -3'
(R):5'- CGTGCACTATACCTTCTAACAAATG -3'
Posted On 2018-05-04