Incidental Mutation 'R7560:N4bp2'
ID 585011
Institutional Source Beutler Lab
Gene Symbol N4bp2
Ensembl Gene ENSMUSG00000037795
Gene Name NEDD4 binding protein 2
Synonyms B3bp, LOC333789, LOC386488
MMRRC Submission 045626-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.140) question?
Stock # R7560 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 65763521-65830108 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to G at 65791115 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Leucine to Valine at position 363 (L363V)
Ref Sequence ENSEMBL: ENSMUSP00000144278 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000087264] [ENSMUST00000201489] [ENSMUST00000201615]
AlphaFold F8VQG7
Predicted Effect probably damaging
Transcript: ENSMUST00000087264
AA Change: L363V

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000084519
Gene: ENSMUSG00000037795
AA Change: L363V

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: ENSMUST00000201489
AA Change: L363V

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000143807
Gene: ENSMUSG00000037795
AA Change: L363V

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 damaging
Transcript: ENSMUST00000201615
AA Change: L363V

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000144278
Gene: ENSMUSG00000037795
AA Change: L363V

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: 99.4%
Validation Efficiency 100% (100/100)
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: 101 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932415D10Rik T C 10: 82,284,615 (GRCm38) Y4187C probably damaging Het
Acot12 A G 13: 91,784,391 (GRCm38) D502G probably benign Het
Adrb1 T C 19: 56,722,688 (GRCm38) V106A probably damaging Het
Ahcyl2 G T 6: 29,886,140 (GRCm38) G352W probably damaging Het
Ahnak2 T G 12: 112,779,674 (GRCm38) D446A Het
AI481877 T C 4: 59,076,140 (GRCm38) N601S possibly damaging Het
Arhgap42 T C 9: 9,035,531 (GRCm38) D270G probably benign Het
Atp2a1 A G 7: 126,459,656 (GRCm38) V129A possibly damaging Het
B9d2 G A 7: 25,681,359 (GRCm38) probably benign Het
Bace1 A T 9: 45,856,139 (GRCm38) I207F possibly damaging Het
Blnk T A 19: 40,952,390 (GRCm38) I190F possibly damaging Het
Bmp7 C T 2: 172,939,964 (GRCm38) E36K possibly damaging Het
Brsk2 A G 7: 142,000,860 (GRCm38) E654G probably benign Het
Cacna2d3 T C 14: 29,058,421 (GRCm38) H661R probably benign Het
Cdh4 T C 2: 179,890,902 (GRCm38) V719A probably benign Het
Cdkn2d G T 9: 21,289,244 (GRCm38) P77H probably damaging Het
Chd3 A G 11: 69,356,270 (GRCm38) V1024A probably damaging Het
Chsy1 T C 7: 66,171,571 (GRCm38) L518P probably damaging Het
Chsy1 T A 7: 66,171,244 (GRCm38) M409K possibly damaging Het
Cic G A 7: 25,272,853 (GRCm38) V670M probably damaging Het
Clock A T 5: 76,242,891 (GRCm38) probably null Het
Coro1a C A 7: 126,703,134 (GRCm38) V14L probably damaging Het
Ctcfl C A 2: 173,118,406 (GRCm38) C128F probably damaging Het
Cyb5b A G 8: 107,169,859 (GRCm38) T71A probably damaging Het
Cyp2c40 C G 19: 39,807,214 (GRCm38) V174L possibly damaging Het
D630045J12Rik T A 6: 38,196,627 (GRCm38) Q202L possibly damaging Het
Dgkz T C 2: 91,942,815 (GRCm38) probably benign Het
Dlgap2 T C 8: 14,822,697 (GRCm38) probably null Het
Dnah1 T C 14: 31,304,983 (GRCm38) I695V probably benign Het
Dst T A 1: 34,182,451 (GRCm38) S2445R possibly damaging Het
Elob T C 17: 23,824,976 (GRCm38) D83G probably benign Het
Elp4 T A 2: 105,794,588 (GRCm38) D320V probably damaging Het
Enpp5 G A 17: 44,085,264 (GRCm38) G356S probably damaging Het
Etfdh T C 3: 79,623,579 (GRCm38) Y45C probably damaging Het
Exph5 A G 9: 53,375,773 (GRCm38) I1385V probably benign Het
Fam104a C T 11: 113,663,389 (GRCm38) G160D probably damaging Het
Fat3 A T 9: 15,996,842 (GRCm38) D2621E probably damaging Het
Fbxl6 G T 15: 76,538,469 (GRCm38) A83D probably benign Het
Fmo2 A G 1: 162,888,749 (GRCm38) Y90H probably damaging Het
Fzd4 T A 7: 89,407,553 (GRCm38) Y269* probably null Het
Grik5 T A 7: 25,058,526 (GRCm38) I377F probably damaging Het
Havcr2 C A 11: 46,459,062 (GRCm38) P137Q probably damaging Het
Hectd4 A G 5: 121,254,342 (GRCm38) N223S possibly damaging Het
Hmcn2 A G 2: 31,457,173 (GRCm38) S4792G probably benign Het
Hps3 T G 3: 20,030,452 (GRCm38) I191L probably benign Het
Ica1l T A 1: 60,010,210 (GRCm38) K195* probably null Het
Idh2 TCCCAGGGCC TCC 7: 80,098,331 (GRCm38) probably null Het
Ift140 A G 17: 25,092,341 (GRCm38) D1170G probably benign Het
Igflr1 T C 7: 30,567,351 (GRCm38) F208S possibly damaging Het
Kcnma1 T C 14: 23,530,242 (GRCm38) T313A probably benign Het
Krt6a T A 15: 101,690,559 (GRCm38) I524F unknown Het
Lce1d G T 3: 92,685,841 (GRCm38) H88Q unknown Het
Lrmda A G 14: 22,828,702 (GRCm38) E177G probably benign Het
Lrrn3 T A 12: 41,452,713 (GRCm38) N535I possibly damaging Het
Map2k4 T A 11: 65,775,757 (GRCm38) I40L unknown Het
Map7d1 A G 4: 126,236,636 (GRCm38) L459P probably damaging Het
Mipol1 A T 12: 57,306,073 (GRCm38) N66I possibly damaging Het
Mycn A C 12: 12,940,291 (GRCm38) F35V probably benign Het
Mzt2 A C 16: 15,862,805 (GRCm38) M40R possibly damaging Het
Nfat5 T A 8: 107,370,589 (GRCm38) M1532K probably benign Het
Notch1 G A 2: 26,460,165 (GRCm38) T2321M probably benign Het
Nr1h4 T C 10: 89,498,261 (GRCm38) D89G probably benign Het
Nsun4 G A 4: 116,051,494 (GRCm38) T623I possibly damaging Het
Nup155 T C 15: 8,155,047 (GRCm38) S1309P probably benign Het
Olfr1100 T C 2: 86,978,778 (GRCm38) Y6C probably benign Het
Olfr1508 T C 14: 52,463,394 (GRCm38) N205S probably damaging Het
Olfr561 T C 7: 102,781,682 (GRCm38) S69P probably damaging Het
Pcsk5 A G 19: 17,836,972 (GRCm38) F61L probably benign Het
Phrf1 A T 7: 141,231,225 (GRCm38) probably null Het
Pkd1 G A 17: 24,573,631 (GRCm38) E1431K probably benign Het
Pkd2 T A 5: 104,480,353 (GRCm38) I431N probably damaging Het
Plcb2 A G 2: 118,715,643 (GRCm38) L557P probably damaging Het
Poteg A G 8: 27,494,960 (GRCm38) N449S probably benign Het
Ppargc1b C A 18: 61,312,210 (GRCm38) G192W probably damaging Het
Rab13 T C 3: 90,224,899 (GRCm38) S178P probably benign Het
Ralgds A G 2: 28,547,595 (GRCm38) D571G probably damaging Het
Ror2 A G 13: 53,110,813 (GRCm38) S748P probably benign Het
Sart1 A T 19: 5,384,877 (GRCm38) L167Q probably damaging Het
Sept12 A G 16: 4,992,191 (GRCm38) V160A possibly damaging Het
Sgo1 T C 17: 53,679,267 (GRCm38) S299G probably benign Het
Slc35b4 T A 6: 34,163,361 (GRCm38) D152V probably benign Het
Specc1 T A 11: 62,128,409 (GRCm38) probably null Het
Synj1 G A 16: 90,940,483 (GRCm38) T1308I probably benign Het
Thap12 T G 7: 98,710,231 (GRCm38) L106V probably damaging Het
Togaram1 T C 12: 65,011,142 (GRCm38) M1501T possibly damaging Het
Top2a G T 11: 99,000,837 (GRCm38) N1153K probably benign Het
Trpm5 A G 7: 143,080,986 (GRCm38) L658P probably damaging Het
Ttc21b G A 2: 66,217,204 (GRCm38) A849V possibly damaging Het
Vmn1r80 A T 7: 12,193,823 (GRCm38) I287F probably damaging Het
Vmn1r87 T C 7: 13,131,818 (GRCm38) S181G probably damaging Het
Vmn2r71 A T 7: 85,623,907 (GRCm38) H643L probably benign Het
Washc5 G A 15: 59,366,192 (GRCm38) R228C probably damaging Het
Wdr72 T C 9: 74,210,126 (GRCm38) S719P probably damaging Het
Xrcc3 G T 12: 111,807,902 (GRCm38) D164E probably benign Het
Zc2hc1b G A 10: 13,168,785 (GRCm38) R45C probably damaging Het
Zfp335 A G 2: 164,895,992 (GRCm38) Y900H probably damaging Het
Zfp512b G A 2: 181,587,082 (GRCm38) R697C probably damaging Het
Zfp60 T C 7: 27,749,136 (GRCm38) Y410H probably damaging Het
Zfp60 T A 7: 27,749,271 (GRCm38) C455S probably damaging Het
Zfp605 C T 5: 110,127,291 (GRCm38) Q92* probably null Het
Zfp64 C T 2: 168,925,665 (GRCm38) D676N probably damaging 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
R7353:N4bp2 UTSW 5 65,806,371 (GRCm38) missense probably benign 0.01
R7450:N4bp2 UTSW 5 65,825,300 (GRCm38) nonsense probably null
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'- TTTGTAGCCCCTGTGGTGAC -3'
(R):5'- CCTAGTCAAATTAGCTTTCATCCACAG -3'

Sequencing Primer
(F):5'- TGACCACAGCTGCTCACTG -3'
(R):5'- CTACCTTGCCAGAAAGGA -3'
Posted On 2019-10-17