Incidental Mutation 'R1722:N4bp2'
ID 191535
Institutional Source Beutler Lab
Gene Symbol N4bp2
Ensembl Gene ENSMUSG00000037795
Gene Name NEDD4 binding protein 2
Synonyms LOC333789, B3bp, LOC386488
MMRRC Submission 039754-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.190) question?
Stock # R1722 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 65920864-65987451 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 65964225 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 758 (V758A)
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: V758A

PolyPhen 2 Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000084519
Gene: ENSMUSG00000037795
AA Change: V758A

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: ENSMUST00000113738
AA Change: V758A

PolyPhen 2 Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000109367
Gene: ENSMUSG00000037795
AA Change: V758A

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: ENSMUST00000200843
Predicted Effect probably benign
Transcript: ENSMUST00000201489
AA Change: V758A

PolyPhen 2 Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000143807
Gene: ENSMUSG00000037795
AA Change: V758A

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: V758A

PolyPhen 2 Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000144278
Gene: ENSMUSG00000037795
AA Change: V758A

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: ENSMUST00000202411
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.3%
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931422A03Rik A T 2: 103,824,273 (GRCm39) probably null Het
Adss1 A T 12: 112,602,915 (GRCm39) I346F possibly damaging Het
Ahnak T A 19: 8,988,019 (GRCm39) L3101H probably damaging Het
Aldh3b3 A G 19: 4,014,871 (GRCm39) I123V possibly damaging Het
Angptl1 C T 1: 156,684,655 (GRCm39) P275S possibly damaging Het
Apoa5 C T 9: 46,181,847 (GRCm39) Q308* probably null Het
Arhgef12 T C 9: 42,932,013 (GRCm39) *106W probably null Het
Atp2c1 A G 9: 105,316,599 (GRCm39) Y485H probably benign Het
Atp6v1b1 C T 6: 83,720,074 (GRCm39) T3I possibly damaging Het
Btbd7 A T 12: 102,778,913 (GRCm39) I451N possibly damaging Het
Clasp1 T G 1: 118,518,194 (GRCm39) L1080R probably damaging Het
Clec4f A G 6: 83,623,915 (GRCm39) V408A probably benign Het
Clint1 T A 11: 45,797,233 (GRCm39) M438K possibly damaging Het
Cuzd1 A T 7: 130,913,373 (GRCm39) Y415N probably damaging Het
Ddias A G 7: 92,509,250 (GRCm39) F222L possibly damaging Het
Efcab7 A T 4: 99,757,815 (GRCm39) T321S probably benign Het
Elp3 A T 14: 65,788,846 (GRCm39) D393E probably benign Het
Fbn2 T C 18: 58,181,124 (GRCm39) probably null Het
Fcgr3 T C 1: 170,881,688 (GRCm39) R146G possibly damaging Het
Fkrp G A 7: 16,544,719 (GRCm39) A381V probably benign Het
Gatad2b T G 3: 90,262,986 (GRCm39) I476S probably damaging Het
Gm1527 C T 3: 28,975,783 (GRCm39) H557Y probably benign Het
Gm2431 A T 7: 141,811,599 (GRCm39) C102S unknown Het
Hoxd13 A G 2: 74,500,389 (GRCm39) N310S probably benign Het
Il9 T A 13: 56,627,208 (GRCm39) T135S probably benign Het
Ints4 A C 7: 97,162,786 (GRCm39) N476T probably benign Het
Kcnq4 A C 4: 120,559,624 (GRCm39) D525E probably benign Het
Kncn A T 4: 115,743,096 (GRCm39) Y57F probably damaging Het
Lpl TGG TG 8: 69,349,254 (GRCm39) probably null Het
Lrrfip2 A G 9: 111,028,829 (GRCm39) T351A probably damaging Het
Madd T C 2: 90,997,982 (GRCm39) E682G probably benign Het
Marchf7 A C 2: 60,064,526 (GRCm39) R267S probably damaging Het
Mmp16 T A 4: 18,051,767 (GRCm39) L252Q probably damaging Het
Mri1 A T 8: 84,980,554 (GRCm39) V296D possibly damaging Het
Myo3a A G 2: 22,404,638 (GRCm39) T665A probably benign Het
Nbea T C 3: 55,573,116 (GRCm39) D2489G probably damaging Het
Neb T C 2: 52,146,757 (GRCm39) T2836A probably damaging Het
Nedd4l T A 18: 65,291,010 (GRCm39) V203E probably damaging Het
Nkpd1 C A 7: 19,257,846 (GRCm39) Q392K possibly damaging Het
Nploc4 G T 11: 120,273,395 (GRCm39) A576E probably benign Het
Nxph1 T A 6: 9,247,516 (GRCm39) N162K probably damaging Het
Or3a1 T C 11: 74,225,271 (GRCm39) Y262C probably damaging Het
Or7c70 T A 10: 78,682,805 (GRCm39) T315S probably benign Het
Pabpc2 T G 18: 39,908,169 (GRCm39) I478S probably benign Het
Pde7b G T 10: 20,311,990 (GRCm39) H190Q probably damaging Het
Plekha2 A T 8: 25,532,976 (GRCm39) S332T probably benign Het
Rapgef6 TG TGG 11: 54,437,223 (GRCm39) probably null Het
Rasl11a A T 5: 146,782,052 (GRCm39) H9L probably benign Het
Rer1 A T 4: 155,159,458 (GRCm39) F177I probably damaging Het
Rinl T C 7: 28,491,669 (GRCm39) L74P probably damaging Het
Rsf1 CG CGACGGCGGTG 7: 97,229,115 (GRCm39) probably benign Het
Rttn T C 18: 88,991,655 (GRCm39) V78A probably benign Het
Skint5 A T 4: 113,703,508 (GRCm39) probably null Het
Tenm2 A C 11: 35,898,930 (GRCm39) Y2743D probably damaging Het
Tmem101 T C 11: 102,045,519 (GRCm39) Y110C probably damaging Het
Trim9 T C 12: 70,295,148 (GRCm39) N658S probably benign Het
Ucp1 A T 8: 84,017,317 (GRCm39) T36S probably benign Het
Vmn2r43 A G 7: 8,258,067 (GRCm39) I382T probably damaging Het
Zfp142 C T 1: 74,608,935 (GRCm39) R1620Q probably damaging Het
Zfp386 T C 12: 116,023,526 (GRCm39) S380P 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
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
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'- CGCCTCCTGAAATGCTGGAAGAAAG -3'
(R):5'- TGTGCTCTCTCGGAGCTAAGGAAG -3'

Sequencing Primer
(F):5'- GGCAAATCATCTTTGGAAAAAATCCC -3'
(R):5'- GCAGAGGAAGGCCAGTC -3'
Posted On 2014-05-14