Incidental Mutation 'R9462:N4bp2'
ID 714923
Institutional Source Beutler Lab
Gene Symbol N4bp2
Ensembl Gene ENSMUSG00000037795
Gene Name NEDD4 binding protein 2
Synonyms LOC333789, B3bp, LOC386488
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.190) question?
Stock # R9462 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 65920864-65987451 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 65947898 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Aspartic acid at position 176 (G176D)
Ref Sequence ENSEMBL: ENSMUSP00000144278 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000087264] [ENSMUST00000201489] [ENSMUST00000201615]
AlphaFold F8VQG7
Predicted Effect probably benign
Transcript: ENSMUST00000087264
AA Change: G176D

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000084519
Gene: ENSMUSG00000037795
AA Change: G176D

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 probably benign
Transcript: ENSMUST00000201489
AA Change: G176D

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000143807
Gene: ENSMUSG00000037795
AA Change: G176D

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 probably benign
Transcript: ENSMUST00000201615
AA Change: G176D

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000144278
Gene: ENSMUSG00000037795
AA Change: G176D

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921539E11Rik G A 4: 103,092,964 (GRCm39) T220I probably benign Het
Abca8b T A 11: 109,844,433 (GRCm39) H928L Het
Ahnak A T 19: 8,981,299 (GRCm39) D861V probably damaging Het
Ahnak2 C A 12: 112,750,655 (GRCm39) R89L Het
Aipl1 C T 11: 71,928,253 (GRCm39) G11D probably damaging Het
Anks6 A G 4: 47,033,142 (GRCm39) L573P unknown Het
Ano5 T C 7: 51,235,200 (GRCm39) V711A probably benign Het
Arl2bp C A 8: 95,398,755 (GRCm39) A120D probably damaging Het
Asap1 A G 15: 64,038,328 (GRCm39) Y223H probably damaging Het
Atp7b A T 8: 22,490,160 (GRCm39) M1151K probably damaging Het
B4galnt3 A T 6: 120,271,438 (GRCm39) L28Q probably null Het
Ccdc39 T C 3: 33,868,519 (GRCm39) K856E probably benign Het
Ccr9 A G 9: 123,608,600 (GRCm39) D94G probably damaging Het
Cdan1 A G 2: 120,560,060 (GRCm39) I368T possibly damaging Het
Cdhr17 G T 5: 17,027,213 (GRCm39) A379S Het
Cfap54 T C 10: 92,737,920 (GRCm39) Q2326R unknown Het
Chrm3 T C 13: 9,927,437 (GRCm39) Y533C Het
Ckap4 C T 10: 84,363,924 (GRCm39) E380K possibly damaging Het
Cntnap2 T C 6: 46,211,217 (GRCm39) F544L probably damaging Het
Cwh43 A G 5: 73,591,695 (GRCm39) K596R probably benign Het
Cyp26c1 A G 19: 37,681,634 (GRCm39) E479G probably damaging Het
Deup1 A G 9: 15,493,882 (GRCm39) V420A probably benign Het
Dnah3 A G 7: 119,551,523 (GRCm39) V2932A probably benign Het
Dthd1 G A 5: 63,039,626 (GRCm39) R676H probably benign Het
Eef1e1 A G 13: 38,838,997 (GRCm39) L120P probably damaging Het
Elane T C 10: 79,723,883 (GRCm39) S244P probably benign Het
Esp6 A G 17: 40,876,315 (GRCm39) E121G probably benign Het
Eya1 T C 1: 14,299,775 (GRCm39) E326G probably damaging Het
Fut2 G T 7: 45,300,492 (GRCm39) N93K probably damaging Het
Garin5b A G 7: 4,761,330 (GRCm39) S461P Het
Gm12695 A G 4: 96,651,075 (GRCm39) V126A probably benign Het
Gucy2g A G 19: 55,221,469 (GRCm39) probably null Het
Hbs1l T C 10: 21,218,304 (GRCm39) V267A probably damaging Het
Hsd17b1 A T 11: 100,969,806 (GRCm39) N106I possibly damaging Het
Ino80d G A 1: 63,097,393 (GRCm39) L939F probably damaging Het
Lilra6 A G 7: 3,914,994 (GRCm39) W505R probably damaging Het
Map3k14 T A 11: 103,118,360 (GRCm39) K609* probably null Het
Mark1 T A 1: 184,651,868 (GRCm39) K212N probably damaging Het
Muc5b T A 7: 141,415,216 (GRCm39) C2721S Het
Myh4 A G 11: 67,141,811 (GRCm39) D890G possibly damaging Het
Mylk2 T G 2: 152,761,373 (GRCm39) L492R probably damaging Het
Myt1 T A 2: 181,467,729 (GRCm39) Y1134* probably null Het
Ncstn A C 1: 171,899,707 (GRCm39) M325R probably damaging Het
Ndor1 C T 2: 25,144,875 (GRCm39) probably null Het
Notch4 G A 17: 34,806,667 (GRCm39) R1868H probably benign Het
Ogfr AGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG AGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG 2: 180,236,850 (GRCm39) probably benign Het
Or2b2b A T 13: 21,859,015 (GRCm39) V33E probably benign Het
Or8s16 T A 15: 98,211,186 (GRCm39) N82Y possibly damaging Het
Oxct2a G T 4: 123,216,441 (GRCm39) D313E probably damaging Het
Pcdha2 T A 18: 37,073,546 (GRCm39) H392Q probably benign Het
Pcdhb20 T G 18: 37,639,799 (GRCm39) L775R probably benign Het
Pclo A G 5: 14,840,408 (GRCm39) D1449G Het
Pcx A G 19: 4,651,970 (GRCm39) T73A probably benign Het
Pou6f2 A G 13: 18,314,189 (GRCm39) S395P probably benign Het
Prss35 C G 9: 86,638,392 (GRCm39) I387M Het
Radil C A 5: 142,471,220 (GRCm39) D1019Y probably damaging Het
Rnf40 G T 7: 127,191,010 (GRCm39) probably null Het
Scarb1 A T 5: 125,417,891 (GRCm39) L19Q probably damaging Het
Scn8a T A 15: 100,930,159 (GRCm39) F1457I Het
Sdk2 C T 11: 113,760,744 (GRCm39) V339I possibly damaging Het
Siglec1 A G 2: 130,916,404 (GRCm39) L1182P probably damaging Het
Slc4a4 G A 5: 89,194,131 (GRCm39) V204I probably damaging Het
Sp9 T C 2: 73,104,243 (GRCm39) S266P probably benign Het
Spata21 A G 4: 140,831,316 (GRCm39) E421G probably damaging Het
Sulf1 C T 1: 12,929,459 (GRCm39) P242L probably damaging Het
Sval3 G A 6: 41,945,105 (GRCm39) G11E possibly damaging Het
Tecta T A 9: 42,248,576 (GRCm39) Y1942F probably damaging Het
Thbs2 C T 17: 14,890,243 (GRCm39) G1121D probably damaging Het
Thrap3 G T 4: 126,070,048 (GRCm39) S613* probably null Het
Ttc34 A C 4: 154,942,539 (GRCm39) K59Q probably damaging Het
Tut7 A T 13: 59,929,957 (GRCm39) L1428H possibly damaging Het
Ube4b A T 4: 149,444,748 (GRCm39) L504Q probably damaging Het
Uncx A T 5: 139,529,771 (GRCm39) E8V probably damaging Het
Vmn1r79 A T 7: 11,910,261 (GRCm39) I48F probably damaging Het
Vmn2r99 C A 17: 19,598,388 (GRCm39) Y137* probably null Het
Zfp354b G A 11: 50,814,523 (GRCm39) T134I probably benign Het
Zfp618 G A 4: 63,051,510 (GRCm39) V764I possibly damaging Het
Zfp873 T G 10: 81,897,131 (GRCm39) C621G probably benign 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
R6393:N4bp2 UTSW 5 65,948,344 (GRCm39) missense possibly damaging 0.81
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
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'- TTTCTGTACAGAGCACGAGC -3'
(R):5'- GCGGCTTGAAATTGAACCCTTC -3'

Sequencing Primer
(F):5'- GCTCAAACAGCGAAACTCTCAAGAG -3'
(R):5'- GCTTGAAATTGAACCCTTCAGAGG -3'
Posted On 2022-06-15