Incidental Mutation 'R1759:N4bp2'
ID 195174
Institutional Source Beutler Lab
Gene Symbol N4bp2
Ensembl Gene ENSMUSG00000037795
Gene Name NEDD4 binding protein 2
Synonyms LOC333789, B3bp, LOC386488
MMRRC Submission 039791-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.190) question?
Stock # R1759 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 65920864-65987451 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 65983956 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 1667 (E1667G)
Ref Sequence ENSEMBL: ENSMUSP00000143807 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000087264] [ENSMUST00000201489]
AlphaFold F8VQG7
Predicted Effect probably damaging
Transcript: ENSMUST00000087264
AA Change: E1667G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000084519
Gene: ENSMUSG00000037795
AA Change: E1667G

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 damaging
Transcript: ENSMUST00000113738
AA Change: E1667G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000109367
Gene: ENSMUSG00000037795
AA Change: E1667G

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 noncoding transcript
Transcript: ENSMUST00000201044
Predicted Effect probably damaging
Transcript: ENSMUST00000201489
AA Change: E1667G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000143807
Gene: ENSMUSG00000037795
AA Change: E1667G

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
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 96.9%
  • 10x: 95.4%
  • 20x: 92.5%
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: 87 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9330159F19Rik A T 10: 29,094,272 (GRCm39) M53L possibly damaging Het
Abca5 T C 11: 110,184,674 (GRCm39) D944G probably benign Het
Ankdd1b T C 13: 96,556,211 (GRCm39) Y433C probably damaging Het
Aox3 A G 1: 58,209,805 (GRCm39) probably null Het
Ap1g1 G A 8: 110,559,853 (GRCm39) G260E probably damaging Het
Arsi G A 18: 61,049,723 (GRCm39) G202E probably benign Het
Atp13a4 T A 16: 29,275,429 (GRCm39) T352S probably damaging Het
Ccdc33 T A 9: 58,024,729 (GRCm39) N166Y possibly damaging Het
Ces2h T A 8: 105,743,243 (GRCm39) D159E probably damaging Het
Chd1 T A 17: 17,607,533 (GRCm39) D360E probably benign Het
Col16a1 G T 4: 129,978,062 (GRCm39) G781V probably damaging Het
Col6a5 T A 9: 105,808,045 (GRCm39) E1001V unknown Het
Cracdl A T 1: 37,664,791 (GRCm39) I369N probably benign Het
Cyp3a59 T G 5: 146,035,060 (GRCm39) M246R probably benign Het
Dcn T C 10: 97,349,517 (GRCm39) V263A probably benign Het
Dnttip2 A G 3: 122,069,798 (GRCm39) N338D probably benign Het
Entpd1 G T 19: 40,600,968 (GRCm39) probably null Het
Epb41l1 A G 2: 156,363,894 (GRCm39) D801G probably benign Het
Fam186a T A 15: 99,864,762 (GRCm39) K23* probably null Het
Gbe1 T C 16: 70,284,929 (GRCm39) M417T probably benign Het
Gmnc T A 16: 26,784,497 (GRCm39) S3C possibly damaging Het
Gpr156 T C 16: 37,768,583 (GRCm39) S35P probably damaging Het
Grid1 T C 14: 35,167,988 (GRCm39) M504T possibly damaging Het
Gsdma3 T C 11: 98,526,071 (GRCm39) V265A possibly damaging Het
Hsd3b3 A T 3: 98,649,399 (GRCm39) I308N probably damaging Het
Inpp4b A G 8: 82,494,732 (GRCm39) D49G probably benign Het
Ipmk C A 10: 71,217,133 (GRCm39) Q227K probably damaging Het
Kalrn T A 16: 34,181,320 (GRCm39) D88V probably damaging Het
Kansl1l C T 1: 66,841,047 (GRCm39) M84I probably damaging Het
Kcnab2 T G 4: 152,477,509 (GRCm39) K363Q probably damaging Het
Kdm7a C A 6: 39,124,633 (GRCm39) probably null Het
Kiss1r T C 10: 79,757,612 (GRCm39) L322P probably damaging Het
Lce1e A T 3: 92,615,178 (GRCm39) C56* probably null Het
Lrpprc T C 17: 85,047,509 (GRCm39) K908E probably damaging Het
Mak C A 13: 41,210,110 (GRCm39) W42L probably damaging Het
Map3k21 A G 8: 126,671,519 (GRCm39) T936A probably benign Het
Marchf7 C T 2: 60,064,888 (GRCm39) S388F probably damaging Het
Matcap1 A T 8: 106,012,182 (GRCm39) S88R probably damaging Het
Mgat2 A T 12: 69,232,301 (GRCm39) I292F probably benign Het
Myh3 C A 11: 66,987,717 (GRCm39) R1397S probably damaging Het
Myo5a A G 9: 75,089,275 (GRCm39) D1135G possibly damaging Het
Nbr1 A G 11: 101,450,369 (GRCm39) T43A probably damaging Het
Nip7 A G 8: 107,784,767 (GRCm39) N124S probably benign Het
Or3a1 G A 11: 74,225,808 (GRCm39) S83F possibly damaging Het
Or51l14 T C 7: 103,101,356 (GRCm39) S271P probably benign Het
Or6c75 T A 10: 129,336,775 (GRCm39) S7R probably benign Het
Or7g25 C T 9: 19,160,384 (GRCm39) V104I probably benign Het
Or8b55 T C 9: 38,727,194 (GRCm39) Y132H probably damaging Het
Otoa T C 7: 120,733,326 (GRCm39) L731P probably damaging Het
Pcnx2 G A 8: 126,500,717 (GRCm39) P1458S probably damaging Het
Pfpl A G 19: 12,407,224 (GRCm39) T492A probably damaging Het
Pgm1 A G 4: 99,824,305 (GRCm39) D326G probably damaging Het
Plekhh1 T A 12: 79,119,535 (GRCm39) Y953N probably damaging Het
Pnkd G A 1: 74,387,922 (GRCm39) A195T probably damaging Het
Ppib C T 9: 65,968,764 (GRCm39) Q51* probably null Het
Ppip5k1 G T 2: 121,181,067 (GRCm39) T13K probably benign Het
Psmg2 A T 18: 67,781,246 (GRCm39) S113C probably benign Het
Rapgef2 A G 3: 78,974,038 (GRCm39) M1584T possibly damaging Het
Rbm12b1 A C 4: 12,145,424 (GRCm39) R465S probably damaging Het
Reln A G 5: 22,215,287 (GRCm39) Y1055H probably damaging Het
Ros1 A T 10: 51,996,922 (GRCm39) I1250K probably damaging Het
Samd9l C A 6: 3,373,401 (GRCm39) V1287F probably damaging Het
Sgce A T 6: 4,689,765 (GRCm39) I356N probably damaging Het
Sh3tc1 C T 5: 35,863,248 (GRCm39) E980K possibly damaging Het
Sil1 T C 18: 35,551,151 (GRCm39) E68G possibly damaging Het
Slc18a1 A G 8: 69,518,237 (GRCm39) I259T possibly damaging Het
Slc6a20b A C 9: 123,438,062 (GRCm39) probably null Het
Smg7 G T 1: 152,724,597 (GRCm39) T536K probably benign Het
Smyd4 A G 11: 75,273,192 (GRCm39) Y84C probably damaging Het
Snrnp40 C G 4: 130,271,836 (GRCm39) probably null Het
Sorbs2 A T 8: 46,216,056 (GRCm39) *50C probably null Het
Speg A T 1: 75,377,806 (GRCm39) M855L possibly damaging Het
Srrt G T 5: 137,301,212 (GRCm39) H71Q probably damaging Het
St6galnac5 A G 3: 152,552,130 (GRCm39) S146P probably damaging Het
Syne1 T A 10: 5,299,369 (GRCm39) Q962L probably damaging Het
Tiam2 A G 17: 3,566,278 (GRCm39) H1441R probably damaging Het
Tmem45a C T 16: 56,642,765 (GRCm39) M135I probably benign Het
Tpr A T 1: 150,305,275 (GRCm39) E1521D probably benign Het
Uba3 C T 6: 97,173,865 (GRCm39) G107R probably damaging Het
Unc45b G T 11: 82,820,325 (GRCm39) V590F probably benign Het
Vmn1r14 A T 6: 57,211,297 (GRCm39) T292S probably benign Het
Vmn2r102 T A 17: 19,914,755 (GRCm39) N773K probably damaging Het
Vps13d A T 4: 144,882,427 (GRCm39) D1055E probably benign Het
Wfs1 G C 5: 37,124,359 (GRCm39) A844G probably damaging Het
Zfp398 A G 6: 47,836,412 (GRCm39) T71A possibly damaging Het
Zfp507 C A 7: 35,475,403 (GRCm39) A145S probably damaging Het
Zfp971 A T 2: 177,675,722 (GRCm39) E440D probably 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
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
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'- GAAGCCTTTTACAAGCCTTTTGGGG -3'
(R):5'- TCAACAAGTAACGGACTGGCATTTGAT -3'

Sequencing Primer
(F):5'- ATCTCTGATACAGCAGAGTCTTC -3'
(R):5'- ACAAACAACTTTCCTTGGATTCTG -3'
Posted On 2014-05-23