Incidental Mutation 'R9641:N4bp2'
ID 725971
Institutional Source Beutler Lab
Gene Symbol N4bp2
Ensembl Gene ENSMUSG00000037795
Gene Name NEDD4 binding protein 2
Synonyms LOC333789, B3bp, LOC386488
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.190) question?
Stock # R9641 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 65920864-65987451 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 65948035 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 222 (S222T)
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: S222T

PolyPhen 2 Score 0.148 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000084519
Gene: ENSMUSG00000037795
AA Change: S222T

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: S222T

PolyPhen 2 Score 0.148 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000143807
Gene: ENSMUSG00000037795
AA Change: S222T

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: S222T

PolyPhen 2 Score 0.148 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000144278
Gene: ENSMUSG00000037795
AA Change: S222T

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: 99.9%
  • 10x: 99.8%
  • 20x: 99.3%
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: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017N19Rik T C 10: 100,430,498 (GRCm39) F52L possibly damaging Het
Abca16 T C 7: 120,126,308 (GRCm39) C1156R possibly damaging Het
Abcg3 A C 5: 105,084,483 (GRCm39) S571A probably benign Het
Abi3 C A 11: 95,724,503 (GRCm39) L259F unknown Het
Adam19 A T 11: 46,027,149 (GRCm39) D594V probably damaging Het
Adam34 C T 8: 44,104,076 (GRCm39) S523N probably damaging Het
Adam6b G T 12: 113,454,176 (GRCm39) C331F probably benign Het
Adamts14 A T 10: 61,106,829 (GRCm39) V97E probably damaging Het
Adipor1 T C 1: 134,355,878 (GRCm39) Y226H probably damaging Het
Alox12e T C 11: 70,212,261 (GRCm39) Y139C probably damaging Het
Ankrd53 A G 6: 83,740,692 (GRCm39) D160G possibly damaging Het
Ap1m1 A T 8: 73,003,606 (GRCm39) Y94F probably damaging Het
Arhgef28 A C 13: 98,078,983 (GRCm39) D1314E probably benign Het
Bicc1 A G 10: 70,863,772 (GRCm39) I90T probably benign Het
Celf6 A G 9: 59,485,833 (GRCm39) D58G probably damaging Het
Cfap74 T C 4: 155,549,054 (GRCm39) S38P unknown Het
Cps1 A G 1: 67,234,342 (GRCm39) I910V probably benign Het
Cracdl C T 1: 37,663,592 (GRCm39) A769T possibly damaging Het
Crybg2 C T 4: 133,816,620 (GRCm39) Q1353* probably null Het
Cyp4f39 T C 17: 32,705,982 (GRCm39) Y358H probably damaging Het
Dcp1a T A 14: 30,241,132 (GRCm39) I314N probably damaging Het
Dgki A C 6: 37,126,489 (GRCm39) W164G probably damaging Het
Dnah8 A G 17: 30,932,029 (GRCm39) I1466V probably benign Het
Efcab6 T A 15: 83,763,676 (GRCm39) R1219W probably damaging Het
Faap24 A T 7: 35,094,494 (GRCm39) F102Y probably damaging Het
Fam186a T C 15: 99,838,244 (GRCm39) T2667A probably benign Het
Frem1 C T 4: 82,877,653 (GRCm39) G1308D probably damaging Het
Hectd1 T C 12: 51,816,047 (GRCm39) T1347A probably benign Het
Hipk3 A T 2: 104,267,376 (GRCm39) H620Q probably benign Het
Hpd A G 5: 123,310,052 (GRCm39) S391P probably benign Het
Ino80 A G 2: 119,275,965 (GRCm39) V437A probably benign Het
Itgax G T 7: 127,741,152 (GRCm39) G785C probably damaging Het
Kcnk18 C T 19: 59,223,266 (GRCm39) T137I probably damaging Het
Kif16b A G 2: 142,542,589 (GRCm39) F236L probably benign Het
Lamb1 T C 12: 31,337,457 (GRCm39) M396T probably damaging Het
Lrfn5 C A 12: 61,886,540 (GRCm39) N109K probably damaging Het
Lrrc15 T A 16: 30,093,006 (GRCm39) N111I probably damaging Het
Lrrk2 A T 15: 91,671,251 (GRCm39) I2011F possibly damaging Het
Lsr A G 7: 30,658,285 (GRCm39) I336T probably damaging Het
Mettl21e T A 1: 44,250,351 (GRCm39) R18S probably benign Het
Mrpl22 T C 11: 58,068,047 (GRCm39) L115P probably damaging Het
Nat2 A G 8: 67,954,522 (GRCm39) T211A probably benign Het
Nbeal1 T A 1: 60,350,247 (GRCm39) I2432N probably damaging Het
Neb A G 2: 52,112,783 (GRCm39) I1158T Het
Nrip3 C T 7: 109,362,793 (GRCm39) E164K probably damaging Het
Obox6 G A 7: 15,568,742 (GRCm39) Q45* probably null Het
Ola1 T C 2: 73,033,784 (GRCm39) N44D probably benign Het
Or1x6 C T 11: 50,939,207 (GRCm39) T91M probably benign Het
Or2y1c T C 11: 49,361,509 (GRCm39) F177S probably damaging Het
Or5b111 A T 19: 13,291,100 (GRCm39) M183K probably damaging Het
Or5d39 A T 2: 87,980,255 (GRCm39) I36N possibly damaging Het
Or5p81 A T 7: 108,267,516 (GRCm39) N298Y probably damaging Het
Or6ae1 A G 7: 139,742,771 (GRCm39) F31L probably benign Het
Or8b51 T A 9: 38,568,915 (GRCm39) M258L probably benign Het
Pde10a A G 17: 9,197,816 (GRCm39) K753R Het
Phldb1 T C 9: 44,627,839 (GRCm39) D202G probably damaging Het
Pik3cb T C 9: 98,955,789 (GRCm39) N376S probably benign Het
Plekhh2 A G 17: 84,874,130 (GRCm39) N472D probably damaging Het
Ppp4r4 T A 12: 103,567,811 (GRCm39) F708Y probably benign Het
Rnf157 A G 11: 116,303,576 (GRCm39) V12A probably benign Het
Saa3 T C 7: 46,364,494 (GRCm39) I11V probably benign Het
Sall2 T C 14: 52,550,882 (GRCm39) E771G probably damaging Het
Sar1b C T 11: 51,670,573 (GRCm39) T39I probably damaging Het
Scn10a A T 9: 119,445,869 (GRCm39) L1428Q possibly damaging Het
Sema3f A G 9: 107,565,454 (GRCm39) I213T unknown Het
Serpina3m C T 12: 104,360,085 (GRCm39) Q386* probably null Het
Sh3gl3 G A 7: 81,909,370 (GRCm39) G26R probably damaging Het
Shq1 T C 6: 100,550,633 (GRCm39) E435G probably damaging Het
Sidt2 G T 9: 45,864,495 (GRCm39) A78E probably benign Het
Sin3b A G 8: 73,477,187 (GRCm39) Y818C probably damaging Het
Smarca2 C T 19: 26,656,498 (GRCm39) L825F possibly damaging Het
Srgn T A 10: 62,330,884 (GRCm39) M74L probably benign Het
Tbc1d22b A C 17: 29,813,747 (GRCm39) D360A possibly damaging Het
Tbx4 A G 11: 85,803,128 (GRCm39) R335G probably damaging Het
Tmem144 T C 3: 79,734,200 (GRCm39) N168D probably benign Het
Trip11 G A 12: 101,859,957 (GRCm39) Q307* probably null Het
Ttyh2 T C 11: 114,598,516 (GRCm39) Y296H probably damaging Het
Vmn1r236 G T 17: 21,507,043 (GRCm39) V54F probably benign Het
Xrra1 A C 7: 99,561,088 (GRCm39) H443P probably benign Het
Zc3h12a T C 4: 125,014,852 (GRCm39) T211A probably damaging Het
Zfp386 T G 12: 116,023,330 (GRCm39) D349E probably benign Het
Zkscan16 T A 4: 58,956,577 (GRCm39) H286Q probably benign Het
Znrf2 C T 6: 54,861,788 (GRCm39) P233L 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
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
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
Z1177:N4bp2 UTSW 5 65,964,980 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AAGGCTCTCCTCTCAGTAGCTC -3'
(R):5'- AAAAGCAGGGATCATCGGGTTC -3'

Sequencing Primer
(F):5'- TCTCAGTAGCTCTGGAAATCCAAC -3'
(R):5'- AGGGATCATCGGGTTCCAGATC -3'
Posted On 2022-09-12