Incidental Mutation 'R7353:N4bp2'
ID 570728
Institutional Source Beutler Lab
Gene Symbol N4bp2
Ensembl Gene ENSMUSG00000037795
Gene Name NEDD4 binding protein 2
Synonyms B3bp, LOC333789, LOC386488
MMRRC Submission 045439-MU
Accession Numbers

Genbank: NM_001024917.1; Ensembl: ENSMUST00000113738

Essential gene? Probably non essential (E-score: 0.140) question?
Stock # R7353 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 65763521-65830108 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to A at 65806371 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 588 (V588M)
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: V588M

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000084519
Gene: ENSMUSG00000037795
AA Change: V588M

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: V588M

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000143807
Gene: ENSMUSG00000037795
AA Change: V588M

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: V588M

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000144278
Gene: ENSMUSG00000037795
AA Change: V588M

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: 99.9%
  • 20x: 99.6%
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110070M22Rik C A 13: 119,488,178 (GRCm38) A11S unknown Het
Aadacl4 G A 4: 144,617,920 (GRCm38) V89I probably damaging Het
Abcc9 T A 6: 142,601,005 (GRCm38) I1369F probably damaging Het
Adgrf3 T A 5: 30,198,497 (GRCm38) I427F probably damaging Het
Alox12e T C 11: 70,321,435 (GRCm38) Y139C probably damaging Het
Arhgef2 T A 3: 88,635,686 (GRCm38) V397E possibly damaging Het
Arhgef28 T A 13: 98,075,202 (GRCm38) Y91F probably damaging Het
Bcar3 A G 3: 122,512,692 (GRCm38) T454A probably benign Het
Bicc1 G T 10: 70,947,900 (GRCm38) T469K probably benign Het
Boc C T 16: 44,485,737 (GRCm38) V1070M unknown Het
Ccdc88a T A 11: 29,463,368 (GRCm38) N635K probably benign Het
Ccr2 T C 9: 124,106,756 (GRCm38) S358P probably damaging Het
Ccser2 T C 14: 36,941,143 (GRCm38) Q28R possibly damaging Het
Cenpf T A 1: 189,654,138 (GRCm38) K1982* probably null Het
Csn1s2a A T 5: 87,785,302 (GRCm38) I137F possibly damaging Het
Cttnbp2 A T 6: 18,375,944 (GRCm38) I1532K possibly damaging Het
Dnajc13 C A 9: 104,230,031 (GRCm38) R304L possibly damaging Het
Dopey1 T A 9: 86,512,859 (GRCm38) M664K probably damaging Het
Emilin3 T A 2: 160,908,821 (GRCm38) E336V probably damaging Het
Eml5 A G 12: 98,825,424 (GRCm38) Y63H Het
Fbxo41 G T 6: 85,479,976 (GRCm38) R404S possibly damaging Het
Gm8897 G A 5: 11,416,436 (GRCm38) D7N possibly damaging Het
Gpr155 A T 2: 73,367,491 (GRCm38) Y456* probably null Het
Gpr156 T A 16: 37,992,161 (GRCm38) N286K probably damaging Het
Kcna5 A G 6: 126,534,845 (GRCm38) S107P probably benign Het
Kcne2 A T 16: 92,296,822 (GRCm38) H79L possibly damaging Het
Kcnh4 T A 11: 100,757,199 (GRCm38) M113L probably benign Het
Lad1 T A 1: 135,827,775 (GRCm38) L263Q probably damaging Het
Lctl G A 9: 64,126,967 (GRCm38) G296D probably damaging Het
Lmtk3 A T 7: 45,788,000 (GRCm38) I205F possibly damaging Het
Magel2 G T 7: 62,379,331 (GRCm38) R661L unknown Het
Mcm10 G A 2: 5,007,109 (GRCm38) P180S possibly damaging Het
Mia3 G T 1: 183,327,392 (GRCm38) A446D Het
Naip6 C T 13: 100,299,751 (GRCm38) V755M probably benign Het
Neurl1a T C 19: 47,240,660 (GRCm38) V213A probably damaging Het
Nrd1 A G 4: 109,039,749 (GRCm38) T522A probably damaging Het
Ntng1 T C 3: 110,135,447 (GRCm38) Q21R probably damaging Het
Nup160 T C 2: 90,703,952 (GRCm38) L707S probably damaging Het
Oas2 A T 5: 120,738,522 (GRCm38) V452D probably damaging Het
Olfr3 A G 2: 36,812,903 (GRCm38) L63P probably damaging Het
Olfr350 A T 2: 36,850,069 (GRCm38) M8L probably benign Het
Olfr351 G A 2: 36,859,668 (GRCm38) R227* probably null Het
Olfr519 A G 7: 108,894,222 (GRCm38) F67L probably damaging Het
Olfr593 A C 7: 103,212,309 (GRCm38) T150P probably damaging Het
Plekhg1 A T 10: 3,964,327 (GRCm38) T1405S Het
Pnrc1 G A 4: 33,248,300 (GRCm38) P33L probably damaging Het
Prkag2 A T 5: 24,880,686 (GRCm38) V312E possibly damaging Het
Rps17 T A 7: 81,344,345 (GRCm38) E76V possibly damaging Het
Rsph10b G A 5: 143,967,220 (GRCm38) G672S possibly damaging Het
Slc2a13 T C 15: 91,321,604 (GRCm38) N460S probably benign Het
Slco2b1 A T 7: 99,690,557 (GRCm38) C56S possibly damaging Het
Spn T C 7: 127,137,006 (GRCm38) T110A probably benign Het
Sult2a8 T C 7: 14,413,715 (GRCm38) N217S possibly damaging Het
Tbx2 C A 11: 85,833,489 (GRCm38) T128N probably damaging Het
Tecpr2 A T 12: 110,967,844 (GRCm38) M1313L probably benign Het
Tmc2 G A 2: 130,196,577 (GRCm38) probably null Het
Tstd1 G T 1: 171,419,955 (GRCm38) A69S probably damaging Het
Txnrd3 A G 6: 89,661,585 (GRCm38) D252G probably benign Het
Ulk2 T C 11: 61,819,348 (GRCm38) N345D probably damaging Het
Unc13c T C 9: 73,574,073 (GRCm38) D1694G probably benign Het
Vill T C 9: 119,065,493 (GRCm38) V406A probably damaging Het
Vmn2r115 T C 17: 23,345,913 (GRCm38) V258A possibly damaging Het
Vmn2r82 T A 10: 79,396,618 (GRCm38) M817K probably benign Het
Xpnpep3 T C 15: 81,430,887 (GRCm38) S263P probably benign Het
Zfp980 A G 4: 145,702,144 (GRCm38) D481G probably benign Het
Zmpste24 A G 4: 121,095,581 (GRCm38) S81P probably damaging Het
Znrf4 A G 17: 56,512,169 (GRCm38) V46A probably benign Het
Other mutations in N4bp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00484:N4bp2 APN 5 65,807,524 (GRCm38) missense probably damaging 0.96
IGL01503:N4bp2 APN 5 65,803,547 (GRCm38) nonsense probably null 0.00
IGL01621:N4bp2 APN 5 65,790,924 (GRCm38) missense probably damaging 1.00
IGL02109:N4bp2 APN 5 65,798,134 (GRCm38) missense probably damaging 1.00
IGL02286:N4bp2 APN 5 65,803,552 (GRCm38) missense probably damaging 1.00
1mM(1):N4bp2 UTSW 5 65,807,677 (GRCm38) missense probably damaging 1.00
IGL03046:N4bp2 UTSW 5 65,790,960 (GRCm38) missense probably damaging 1.00
R0164:N4bp2 UTSW 5 65,803,573 (GRCm38) splice site probably benign
R0285:N4bp2 UTSW 5 65,806,559 (GRCm38) missense probably benign 0.00
R0366:N4bp2 UTSW 5 65,806,396 (GRCm38) missense possibly damaging 0.95
R0548:N4bp2 UTSW 5 65,808,153 (GRCm38) missense probably benign 0.39
R0551:N4bp2 UTSW 5 65,820,341 (GRCm38) splice site probably null
R0671:N4bp2 UTSW 5 65,807,437 (GRCm38) missense probably damaging 0.99
R1136:N4bp2 UTSW 5 65,808,472 (GRCm38) missense probably damaging 1.00
R1515:N4bp2 UTSW 5 65,790,498 (GRCm38) missense probably benign 0.01
R1597:N4bp2 UTSW 5 65,807,140 (GRCm38) missense probably benign 0.45
R1628:N4bp2 UTSW 5 65,803,572 (GRCm38) splice site probably null
R1722:N4bp2 UTSW 5 65,806,882 (GRCm38) missense probably benign 0.08
R1735:N4bp2 UTSW 5 65,808,316 (GRCm38) missense probably damaging 1.00
R1745:N4bp2 UTSW 5 65,790,822 (GRCm38) missense probably benign 0.12
R1759:N4bp2 UTSW 5 65,826,613 (GRCm38) missense probably damaging 1.00
R1799:N4bp2 UTSW 5 65,806,825 (GRCm38) missense possibly damaging 0.62
R1846:N4bp2 UTSW 5 65,808,519 (GRCm38) missense probably damaging 1.00
R1872:N4bp2 UTSW 5 65,794,518 (GRCm38) splice site probably benign
R2042:N4bp2 UTSW 5 65,826,621 (GRCm38) missense probably damaging 1.00
R2082:N4bp2 UTSW 5 65,807,565 (GRCm38) missense probably damaging 1.00
R2101:N4bp2 UTSW 5 65,790,881 (GRCm38) missense probably damaging 1.00
R2147:N4bp2 UTSW 5 65,809,200 (GRCm38) missense probably damaging 1.00
R2251:N4bp2 UTSW 5 65,806,728 (GRCm38) missense probably damaging 1.00
R2507:N4bp2 UTSW 5 65,790,061 (GRCm38) missense probably benign 0.01
R2508:N4bp2 UTSW 5 65,790,061 (GRCm38) missense probably benign 0.01
R2919:N4bp2 UTSW 5 65,807,098 (GRCm38) missense probably benign 0.22
R3086:N4bp2 UTSW 5 65,791,053 (GRCm38) missense probably damaging 1.00
R4092:N4bp2 UTSW 5 65,790,456 (GRCm38) missense probably benign 0.02
R4177:N4bp2 UTSW 5 65,798,170 (GRCm38) splice site probably null
R4718:N4bp2 UTSW 5 65,803,463 (GRCm38) missense probably damaging 1.00
R4859:N4bp2 UTSW 5 65,825,298 (GRCm38) missense probably damaging 1.00
R4863:N4bp2 UTSW 5 65,808,130 (GRCm38) missense probably benign 0.22
R4915:N4bp2 UTSW 5 65,803,504 (GRCm38) missense probably damaging 1.00
R4949:N4bp2 UTSW 5 65,821,799 (GRCm38) splice site probably null
R4978:N4bp2 UTSW 5 65,790,240 (GRCm38) missense probably damaging 1.00
R5029:N4bp2 UTSW 5 65,814,780 (GRCm38) missense probably damaging 1.00
R5079:N4bp2 UTSW 5 65,811,977 (GRCm38) missense probably damaging 1.00
R5097:N4bp2 UTSW 5 65,817,218 (GRCm38) missense probably damaging 1.00
R5158:N4bp2 UTSW 5 65,808,462 (GRCm38) missense probably damaging 0.99
R5228:N4bp2 UTSW 5 65,807,518 (GRCm38) missense probably benign
R5322:N4bp2 UTSW 5 65,790,457 (GRCm38) missense possibly damaging 0.76
R5554:N4bp2 UTSW 5 65,808,114 (GRCm38) missense probably benign 0.44
R5731:N4bp2 UTSW 5 65,809,157 (GRCm38) missense probably damaging 1.00
R5840:N4bp2 UTSW 5 65,808,094 (GRCm38) missense probably damaging 0.99
R6393:N4bp2 UTSW 5 65,791,001 (GRCm38) missense possibly damaging 0.81
R6767:N4bp2 UTSW 5 65,817,187 (GRCm38) missense probably damaging 1.00
R7103:N4bp2 UTSW 5 65,806,846 (GRCm38) missense probably benign 0.01
R7112:N4bp2 UTSW 5 65,790,707 (GRCm38) missense possibly damaging 0.74
R7171:N4bp2 UTSW 5 65,808,022 (GRCm38) missense probably benign 0.00
R7177:N4bp2 UTSW 5 65,807,548 (GRCm38) missense probably damaging 1.00
R7240:N4bp2 UTSW 5 65,794,545 (GRCm38) missense probably damaging 0.96
R7450:N4bp2 UTSW 5 65,825,300 (GRCm38) nonsense probably null
R7560:N4bp2 UTSW 5 65,791,115 (GRCm38) missense probably damaging 0.99
R7698:N4bp2 UTSW 5 65,808,157 (GRCm38) missense probably benign 0.00
R7743:N4bp2 UTSW 5 65,808,459 (GRCm38) missense probably damaging 1.00
R7871:N4bp2 UTSW 5 65,807,103 (GRCm38) missense probably benign 0.00
R7981:N4bp2 UTSW 5 65,812,142 (GRCm38) missense probably benign 0.41
R8065:N4bp2 UTSW 5 65,807,296 (GRCm38) missense probably damaging 0.99
R8067:N4bp2 UTSW 5 65,807,296 (GRCm38) missense probably damaging 0.99
R8164:N4bp2 UTSW 5 65,809,223 (GRCm38) missense probably damaging 1.00
R8166:N4bp2 UTSW 5 65,820,312 (GRCm38) missense probably benign 0.39
R8331:N4bp2 UTSW 5 65,807,600 (GRCm38) missense probably damaging 1.00
R8559:N4bp2 UTSW 5 65,825,285 (GRCm38) missense possibly damaging 0.62
R8806:N4bp2 UTSW 5 65,808,208 (GRCm38) missense possibly damaging 0.63
R9287:N4bp2 UTSW 5 65,803,512 (GRCm38) missense probably benign 0.38
R9369:N4bp2 UTSW 5 65,806,916 (GRCm38) missense probably damaging 0.97
R9460:N4bp2 UTSW 5 65,806,543 (GRCm38) missense probably benign 0.00
R9462:N4bp2 UTSW 5 65,790,555 (GRCm38) missense probably benign 0.02
R9605:N4bp2 UTSW 5 65,806,536 (GRCm38) missense probably benign 0.02
R9641:N4bp2 UTSW 5 65,790,692 (GRCm38) missense probably benign 0.15
Z1177:N4bp2 UTSW 5 65,807,637 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACACTTGAAATGTCTTGTAGCCC -3'
(R):5'- CTTGATTATCATCAGCACAGCGC -3'

Sequencing Primer
(F):5'- TTGTAGCCCAAGAGACAGTG -3'
(R):5'- ACAGCGCCCATCTGATGACG -3'
Posted On 2019-09-13