Incidental Mutation 'R2082:N4bp2'
ID 230066
Institutional Source Beutler Lab
Gene Symbol N4bp2
Ensembl Gene ENSMUSG00000037795
Gene Name NEDD4 binding protein 2
Synonyms LOC333789, B3bp, LOC386488
MMRRC Submission 040087-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.190) question?
Stock # R2082 (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 T at 65964908 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 986 (T986S)
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: T986S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000084519
Gene: ENSMUSG00000037795
AA Change: T986S

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: T986S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000109367
Gene: ENSMUSG00000037795
AA Change: T986S

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 damaging
Transcript: ENSMUST00000201489
AA Change: T986S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000143807
Gene: ENSMUSG00000037795
AA Change: T986S

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: T986S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000144278
Gene: ENSMUSG00000037795
AA Change: T986S

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: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001O22Rik T A 2: 30,686,391 (GRCm39) probably null Het
4933427I04Rik A G 4: 123,754,769 (GRCm39) I228V probably benign Het
Aco2 T C 15: 81,797,896 (GRCm39) W657R possibly damaging Het
Acsm2 T A 7: 119,179,857 (GRCm39) H333Q probably benign Het
Adamts18 C T 8: 114,501,965 (GRCm39) V299I probably damaging Het
Adat2 G A 10: 13,435,907 (GRCm39) C84Y probably damaging Het
Arhgef11 C T 3: 87,633,303 (GRCm39) T690I possibly damaging Het
Cachd1 A G 4: 100,860,155 (GRCm39) D1242G probably damaging Het
Casp14 A G 10: 78,550,867 (GRCm39) M106T probably benign Het
Ccdc69 T A 11: 54,943,215 (GRCm39) I130F probably damaging Het
Cdk9 A G 2: 32,599,513 (GRCm39) L189P probably damaging Het
Cfhr1 C T 1: 139,478,624 (GRCm39) V249I possibly damaging Het
Chst1 T C 2: 92,444,335 (GRCm39) V269A possibly damaging Het
Col18a1 G T 10: 76,895,127 (GRCm39) P1178Q probably damaging Het
Col6a1 A G 10: 76,545,430 (GRCm39) L1014P probably damaging Het
Crisp3 T C 17: 40,536,751 (GRCm39) Y188C probably damaging Het
Dse G A 10: 34,031,936 (GRCm39) R363C probably damaging Het
Exoc5 T C 14: 49,253,044 (GRCm39) I525V probably benign Het
Fech A T 18: 64,591,260 (GRCm39) I388N probably damaging Het
Fmnl1 T C 11: 103,082,851 (GRCm39) L363P probably damaging Het
Gm10842 T A 11: 105,037,909 (GRCm39) L64Q unknown Het
Gm8225 C A 17: 26,762,670 (GRCm39) P287Q possibly damaging Het
Hsp90aa1 A T 12: 110,659,261 (GRCm39) L512H probably damaging Het
Ifi30 T C 8: 71,216,373 (GRCm39) probably benign Het
Iqsec1 A T 6: 90,671,556 (GRCm39) D115E probably damaging Het
Kcnu1 T A 8: 26,411,577 (GRCm39) L174H probably damaging Het
Krt10 A G 11: 99,279,701 (GRCm39) V153A probably damaging Het
Krt18 G A 15: 101,939,455 (GRCm39) probably null Het
Micu1 A G 10: 59,699,129 (GRCm39) T469A probably benign Het
Mtss2 T C 8: 111,452,889 (GRCm39) probably null Het
Myo10 T A 15: 25,786,079 (GRCm39) F1253L probably damaging Het
Naip6 C A 13: 100,440,852 (GRCm39) probably null Het
Nphp4 G A 4: 152,643,821 (GRCm39) V1117M probably benign Het
Oca2 C A 7: 55,946,885 (GRCm39) Q305K probably benign Het
Or56b34 C T 7: 104,937,710 (GRCm39) Q137* probably null Het
Or5k3 T A 16: 58,969,248 (GRCm39) F12I probably damaging Het
Or7g27 G A 9: 19,250,574 (GRCm39) V273I probably benign Het
P2rx7 A T 5: 122,782,158 (GRCm39) N8Y possibly damaging Het
Pag1 A T 3: 9,764,545 (GRCm39) S203T probably damaging Het
Pfn4 T A 12: 4,825,439 (GRCm39) probably null Het
Pip4k2c T C 10: 127,034,958 (GRCm39) D414G probably damaging Het
Pkp1 T G 1: 135,812,714 (GRCm39) Q329P possibly damaging Het
Polrmt A T 10: 79,579,346 (GRCm39) I135N probably benign Het
Ppa2 G A 3: 133,076,178 (GRCm39) R269H probably benign Het
Ppp3cb T C 14: 20,558,746 (GRCm39) T439A possibly damaging Het
Prkdc A G 16: 15,533,827 (GRCm39) Y1555C probably damaging Het
Ptprh T C 7: 4,553,774 (GRCm39) D859G probably damaging Het
Sema5a T A 15: 32,619,002 (GRCm39) M510K probably benign Het
Slc22a16 A G 10: 40,461,335 (GRCm39) E379G probably benign Het
Slc30a5 C A 13: 100,943,041 (GRCm39) probably null Het
Syce1 C A 7: 140,359,809 (GRCm39) L83F probably damaging Het
Tbc1d9 A T 8: 83,997,616 (GRCm39) S1058C probably damaging Het
Tet2 A G 3: 133,191,488 (GRCm39) L982P possibly damaging Het
Tmem101 G T 11: 102,044,203 (GRCm39) T228K probably benign Het
Tshz2 G T 2: 169,728,135 (GRCm39) K441N probably damaging Het
Upf1 A T 8: 70,794,222 (GRCm39) I228N probably damaging Het
Usp32 A T 11: 84,921,338 (GRCm39) I692N probably damaging Het
Vmn2r117 A G 17: 23,679,230 (GRCm39) S665P possibly damaging Het
Vps13b T C 15: 35,910,892 (GRCm39) V3552A possibly damaging Het
Vps35 A T 8: 85,990,094 (GRCm39) M638K possibly damaging Het
Vps41 T G 13: 19,036,521 (GRCm39) I645S probably benign Het
Zfp703 T C 8: 27,469,016 (GRCm39) S227P 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
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'- GACTGAACCCCAAGATTTTGCTC -3'
(R):5'- AACCTGTGACTCGCTGTACG -3'

Sequencing Primer
(F):5'- GAACCCCAAGATTTTGCTCTCTTGTG -3'
(R):5'- GCAGTGTCCTCGCACAGTTTAG -3'
Posted On 2014-09-18