Incidental Mutation 'R1846:N4bp2'
ID 207718
Institutional Source Beutler Lab
Gene Symbol N4bp2
Ensembl Gene ENSMUSG00000037795
Gene Name NEDD4 binding protein 2
Synonyms B3bp, LOC333789, LOC386488
MMRRC Submission 039871-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.140) question?
Stock # R1846 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 65763521-65830108 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 65808519 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 1304 (F1304L)
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: F1304L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000084519
Gene: ENSMUSG00000037795
AA Change: F1304L

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: F1304L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000109367
Gene: ENSMUSG00000037795
AA Change: F1304L

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: F1304L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000143807
Gene: ENSMUSG00000037795
AA Change: F1304L

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: F1304L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000144278
Gene: ENSMUSG00000037795
AA Change: F1304L

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
Meta Mutation Damage Score 0.2094 question?
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 96.9%
  • 10x: 95.4%
  • 20x: 92.6%
Validation Efficiency 99% (75/76)
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700011H14Rik G T 14: 49,235,963 (GRCm38) L102I probably damaging Het
2900092C05Rik G A 7: 12,512,882 (GRCm38) R63Q probably benign Het
Adamts20 A T 15: 94,345,990 (GRCm38) C619S probably damaging Het
Alx1 T C 10: 103,025,304 (GRCm38) D121G possibly damaging Het
Anks3 A C 16: 4,953,884 (GRCm38) M215R probably benign Het
Anxa4 T A 6: 86,741,911 (GRCm38) probably null Het
Arhgef25 A G 10: 127,185,864 (GRCm38) V222A probably damaging Het
Bglap2 A G 3: 88,378,625 (GRCm38) probably benign Het
Cars2 A G 8: 11,514,674 (GRCm38) V22A probably benign Het
Cenpe T A 3: 135,239,845 (GRCm38) I1040N probably damaging Het
Cep170 C T 1: 176,755,769 (GRCm38) D1015N probably damaging Het
Chia1 T A 3: 106,130,865 (GRCm38) I359N probably damaging Het
Crot A T 5: 8,988,248 (GRCm38) V93E probably benign Het
Dab1 C T 4: 104,731,751 (GRCm38) A524V probably benign Het
Dnmbp T C 19: 43,902,747 (GRCm38) I194V probably damaging Het
Dock4 T A 12: 40,733,268 (GRCm38) C734S probably benign Het
Eif4e3 T C 6: 99,640,701 (GRCm38) S70G probably benign Het
Entpd3 G A 9: 120,558,375 (GRCm38) D213N probably benign Het
Ern2 T G 7: 122,176,536 (GRCm38) Y445S probably benign Het
Fasn A G 11: 120,813,307 (GRCm38) S1429P probably benign Het
Fat4 A G 3: 38,982,383 (GRCm38) I3395V probably benign Het
Fbln2 C A 6: 91,256,417 (GRCm38) Q628K possibly damaging Het
Fbxo28 T C 1: 182,326,280 (GRCm38) N164D probably benign Het
Fez1 T C 9: 36,867,767 (GRCm38) S247P probably damaging Het
Gars A G 6: 55,063,168 (GRCm38) D360G probably benign Het
Gcfc2 A T 6: 81,956,892 (GRCm38) Q710L probably damaging Het
Ggt5 A G 10: 75,610,542 (GRCm38) probably null Het
Glp1r A G 17: 30,929,935 (GRCm38) probably null Het
Hspa14 T C 2: 3,491,660 (GRCm38) D356G possibly damaging Het
Htt T A 5: 34,848,944 (GRCm38) I1399N probably damaging Het
Kmt2e G A 5: 23,499,486 (GRCm38) probably benign Het
Krt36 C A 11: 100,105,548 (GRCm38) G17C probably damaging Het
Lama2 T C 10: 27,212,096 (GRCm38) E895G probably damaging Het
Lamb2 G A 9: 108,487,387 (GRCm38) R1142H probably benign Het
Lhcgr C T 17: 88,765,147 (GRCm38) probably null Het
Lpin2 A G 17: 71,225,069 (GRCm38) T140A probably benign Het
Metap1 A G 3: 138,480,682 (GRCm38) probably benign Het
Mpeg1 T C 19: 12,463,122 (GRCm38) V648A probably benign Het
Mroh2a A G 1: 88,258,664 (GRCm38) S64G probably benign Het
Muc4 T A 16: 32,752,369 (GRCm38) I749N probably benign Het
Nup85 A G 11: 115,568,413 (GRCm38) E114G probably benign Het
Olfr1258 A G 2: 89,930,666 (GRCm38) T286A possibly damaging Het
Olfr1415 A T 1: 92,491,100 (GRCm38) Y218* probably null Het
Olfr448 A G 6: 42,897,320 (GRCm38) S290G probably damaging Het
Pafah2 GCCCC GCCCCC 4: 134,425,541 (GRCm38) probably null Het
Parp2 T A 14: 50,815,386 (GRCm38) C145* probably null Het
Plpp6 T C 19: 28,964,280 (GRCm38) S94P probably benign Het
Polr1a T C 6: 71,976,188 (GRCm38) I1580T probably damaging Het
Polrmt A T 10: 79,738,209 (GRCm38) V860E probably damaging Het
Ppp1r17 A G 6: 56,022,427 (GRCm38) E15G possibly damaging Het
Prl7b1 A T 13: 27,602,848 (GRCm38) W133R probably damaging Het
Ptk7 A G 17: 46,576,490 (GRCm38) probably null Het
Rad23b C T 4: 55,383,637 (GRCm38) Q290* probably null Het
Rorb C T 19: 18,955,081 (GRCm38) E369K probably damaging Het
Rusc1 T C 3: 89,092,145 (GRCm38) D110G probably damaging Het
Smg7 A G 1: 152,848,850 (GRCm38) S527P probably damaging Het
Ssbp2 C T 13: 91,664,149 (GRCm38) P105L probably damaging Het
Stt3a C T 9: 36,763,385 (GRCm38) R34H probably damaging Het
Sufu T A 19: 46,450,947 (GRCm38) I202N possibly damaging Het
Thsd7b G A 1: 129,613,256 (GRCm38) R289Q probably damaging Het
Tph1 A T 7: 46,660,439 (GRCm38) S130T probably damaging Het
Ttn A G 2: 76,945,686 (GRCm38) S1671P probably damaging Het
Usp4 A G 9: 108,372,736 (GRCm38) I441V probably benign Het
Vmn1r8 A G 6: 57,036,428 (GRCm38) N155D probably benign Het
Vmn2r115 A C 17: 23,359,383 (GRCm38) K610T probably damaging Het
Vmn2r62 G A 7: 42,789,122 (GRCm38) P97S probably damaging Het
Zbtb40 T C 4: 137,007,839 (GRCm38) D297G probably benign Het
Zfp174 C A 16: 3,854,735 (GRCm38) Q383K probably benign Het
Zfp318 T A 17: 46,413,666 (GRCm38) D2198E probably benign Het
Zfp628 C T 7: 4,920,867 (GRCm38) P696L possibly damaging Het
Zgrf1 T A 3: 127,615,463 (GRCm38) N1695K 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
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
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'- TCTTACTGGCTCTTTGGAAGTAAAG -3'
(R):5'- TCCAGGAAAACTTGCAACATG -3'

Sequencing Primer
(F):5'- TGTGAAATTTGCAAACATGGAAG -3'
(R):5'- CCAGGAAAACTTGCAACATGTTCATG -3'
Posted On 2014-06-23