Incidental Mutation 'R2192:Nedd4'
ID 238222
Institutional Source Beutler Lab
Gene Symbol Nedd4
Ensembl Gene ENSMUSG00000032216
Gene Name neural precursor cell expressed, developmentally down-regulated 4
Synonyms E430025J12Rik, Nedd4a, Nedd4, Nedd4-1
MMRRC Submission 040194-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2192 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 72569628-72657134 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 72650000 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 783 (N783K)
Ref Sequence ENSEMBL: ENSMUSP00000034740 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034740]
AlphaFold P46935
PDB Structure Crystal structure of the Nedd4 C2/Grb10 SH2 complex [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000034740
AA Change: N783K

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000034740
Gene: ENSMUSG00000032216
AA Change: N783K

DomainStartEndE-ValueType
C2 79 181 5.38e-21 SMART
WW 250 282 2.32e-13 SMART
low complexity region 283 293 N/A INTRINSIC
WW 406 438 1.31e-12 SMART
WW 461 493 1.26e-14 SMART
HECTc 550 886 2.37e-194 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183451
Predicted Effect probably benign
Transcript: ENSMUST00000184020
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184287
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygous mutation of this gene results in neonatal lethality and heterozygous mice have decreased body weights. Mice homozygous for a knockout allele exhibit impaired neurite development. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adra1d A T 2: 131,403,289 (GRCm39) M267K probably damaging Het
Aen T C 7: 78,555,793 (GRCm39) probably null Het
Ano2 A G 6: 125,992,502 (GRCm39) D825G probably damaging Het
Bdh2 T C 3: 135,001,025 (GRCm39) S142P probably damaging Het
Celsr1 A G 15: 85,800,924 (GRCm39) L2507P possibly damaging Het
Ces3a T C 8: 105,782,212 (GRCm39) F308S probably benign Het
Cfap47 C T X: 78,454,218 (GRCm39) R1646Q probably damaging Het
Chd4 T A 6: 125,082,320 (GRCm39) M603K probably damaging Het
Cit T C 5: 116,106,068 (GRCm39) V984A probably benign Het
Clstn3 A T 6: 124,436,166 (GRCm39) D194E probably damaging Het
Ctdp1 T C 18: 80,492,696 (GRCm39) R600G probably benign Het
Ctnnd1 C T 2: 84,439,907 (GRCm39) G801D probably damaging Het
Dgkg A G 16: 22,407,049 (GRCm39) F179L probably damaging Het
Dlg3 G A X: 99,817,827 (GRCm39) D379N probably damaging Het
Drd2 G T 9: 49,314,571 (GRCm39) R267S probably benign Het
Dsg1b T C 18: 20,542,675 (GRCm39) *1061Q probably null Het
Dvl1 G A 4: 155,932,273 (GRCm39) V28I possibly damaging Het
Edc3 T C 9: 57,620,826 (GRCm39) V49A probably damaging Het
Ern1 G A 11: 106,300,750 (GRCm39) T548I probably benign Het
Fam186a T C 15: 99,838,192 (GRCm39) D2684G possibly damaging Het
Fam20a A G 11: 109,565,449 (GRCm39) M454T probably benign Het
Fbp2 A G 13: 63,006,056 (GRCm39) M19T possibly damaging Het
Frmd4b A T 6: 97,464,577 (GRCm39) C47S probably damaging Het
Gtf2h1 T A 7: 46,464,747 (GRCm39) I388N possibly damaging Het
Hectd4 T C 5: 121,453,206 (GRCm39) V571A possibly damaging Het
Helz2 T A 2: 180,870,841 (GRCm39) K2832* probably null Het
Herc1 T A 9: 66,372,688 (GRCm39) D3081E probably damaging Het
Hmcn1 A T 1: 150,591,566 (GRCm39) S1878T probably damaging Het
Iars1 A G 13: 49,841,605 (GRCm39) probably null Het
Il17rd A T 14: 26,816,835 (GRCm39) K180M probably damaging Het
Ints6l T A X: 55,550,110 (GRCm39) H678Q probably benign Het
Khdrbs1 A G 4: 129,613,830 (GRCm39) probably null Het
Lce3a A C 3: 92,832,837 (GRCm39) S88A unknown Het
Lgals12 C T 19: 7,578,606 (GRCm39) probably null Het
Lnpk T C 2: 74,399,373 (GRCm39) T57A probably benign Het
Lrp2bp C T 8: 46,466,206 (GRCm39) T105I probably benign Het
Lrrc4c C G 2: 97,459,657 (GRCm39) N94K possibly damaging Het
Mag A T 7: 30,600,066 (GRCm39) Y571* probably null Het
Mbd1 T A 18: 74,410,449 (GRCm39) D583E probably damaging Het
Mill1 T A 7: 17,998,544 (GRCm39) Y251* probably null Het
Mllt10 T C 2: 18,211,871 (GRCm39) I928T probably benign Het
Ms4a18 T C 19: 10,991,029 (GRCm39) T22A probably benign Het
Mtmr14 T C 6: 113,257,700 (GRCm39) F250L probably damaging Het
Mtmr3 A T 11: 4,449,032 (GRCm39) W244R probably damaging Het
Myorg A G 4: 41,497,704 (GRCm39) I642T probably damaging Het
Nat10 C A 2: 103,556,522 (GRCm39) E885D probably benign Het
Nbeal1 T A 1: 60,321,054 (GRCm39) L2055H probably damaging Het
Necab3 T A 2: 154,388,999 (GRCm39) I192F possibly damaging Het
Nf2 A T 11: 4,749,899 (GRCm39) W61R probably damaging Het
Nox4 T A 7: 87,023,588 (GRCm39) F491L probably benign Het
Omt2b G A 9: 78,235,457 (GRCm39) probably benign Het
Or4c125 A T 2: 89,170,009 (GRCm39) Y212* probably null Het
Or4c127 T A 2: 89,832,774 (GRCm39) I8N probably damaging Het
Or8i2 A G 2: 86,852,855 (GRCm39) V11A probably benign Het
Osbpl5 A T 7: 143,247,596 (GRCm39) Y723* probably null Het
Otop2 T C 11: 115,217,757 (GRCm39) S198P possibly damaging Het
Pgam5 T G 5: 110,413,785 (GRCm39) H126P probably damaging Het
Phip A T 9: 82,753,868 (GRCm39) N1625K probably damaging Het
Phospho2 T A 2: 69,626,451 (GRCm39) Y202* probably null Het
Pkd1l3 T A 8: 110,347,156 (GRCm39) H176Q unknown Het
Plxdc2 A G 2: 16,570,147 (GRCm39) R109G probably damaging Het
Prorsd1 T C 11: 29,463,592 (GRCm39) K57E probably benign Het
Rnf150 A T 8: 83,591,020 (GRCm39) R128W probably damaging Het
Samm50 G A 15: 84,084,625 (GRCm39) probably null Het
Skint6 A T 4: 112,722,909 (GRCm39) Y889* probably null Het
Slc35b1 T C 11: 95,276,640 (GRCm39) Y40H probably damaging Het
Speg A G 1: 75,394,371 (GRCm39) H1722R probably damaging Het
Suz12 T C 11: 79,913,024 (GRCm39) L356P probably damaging Het
Tln2 T G 9: 67,262,503 (GRCm39) I585L probably damaging Het
Trim2 G A 3: 84,098,225 (GRCm39) Q359* probably null Het
Ttc28 T C 5: 111,371,362 (GRCm39) Y635H probably damaging Het
Ttn C T 2: 76,543,549 (GRCm39) E33146K probably damaging Het
Vcp G T 4: 42,982,547 (GRCm39) T715K probably benign Het
Vmn1r230 T A 17: 21,067,355 (GRCm39) N181K probably benign Het
Vmn2r17 T A 5: 109,582,144 (GRCm39) M511K possibly damaging Het
Wdfy3 C T 5: 102,055,408 (GRCm39) R1554Q possibly damaging Het
Zfp112 A T 7: 23,824,863 (GRCm39) Q277L probably damaging Het
Zfp850 T C 7: 27,684,620 (GRCm39) E42G probably damaging Het
Zfp976 G A 7: 42,262,695 (GRCm39) P381S probably damaging Het
Zzef1 A T 11: 72,800,982 (GRCm39) probably null Het
Other mutations in Nedd4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00332:Nedd4 APN 9 72,642,371 (GRCm39) missense probably damaging 1.00
IGL00573:Nedd4 APN 9 72,593,338 (GRCm39) splice site probably null
IGL01973:Nedd4 APN 9 72,644,216 (GRCm39) missense possibly damaging 0.81
IGL02177:Nedd4 APN 9 72,654,439 (GRCm39) missense probably damaging 1.00
IGL03082:Nedd4 APN 9 72,584,676 (GRCm39) critical splice donor site probably null
Evaporation UTSW 9 72,593,377 (GRCm39) missense probably damaging 1.00
Reduction UTSW 9 72,638,553 (GRCm39) missense possibly damaging 0.49
Snookie UTSW 9 72,632,346 (GRCm39) missense probably benign 0.04
Sublimation UTSW 9 72,584,661 (GRCm39) nonsense probably null
R0194:Nedd4 UTSW 9 72,577,335 (GRCm39) missense possibly damaging 0.72
R0714:Nedd4 UTSW 9 72,638,728 (GRCm39) splice site probably benign
R1331:Nedd4 UTSW 9 72,584,668 (GRCm39) missense probably damaging 1.00
R1633:Nedd4 UTSW 9 72,578,539 (GRCm39) missense possibly damaging 0.50
R1764:Nedd4 UTSW 9 72,638,189 (GRCm39) missense probably damaging 0.99
R2196:Nedd4 UTSW 9 72,632,356 (GRCm39) missense possibly damaging 0.77
R2220:Nedd4 UTSW 9 72,643,989 (GRCm39) missense probably damaging 1.00
R2850:Nedd4 UTSW 9 72,632,356 (GRCm39) missense possibly damaging 0.77
R2994:Nedd4 UTSW 9 72,638,185 (GRCm39) missense probably benign 0.04
R3040:Nedd4 UTSW 9 72,577,243 (GRCm39) missense probably benign
R3697:Nedd4 UTSW 9 72,647,469 (GRCm39) missense probably damaging 1.00
R3884:Nedd4 UTSW 9 72,632,359 (GRCm39) missense probably benign 0.16
R4475:Nedd4 UTSW 9 72,578,521 (GRCm39) nonsense probably null
R4476:Nedd4 UTSW 9 72,578,521 (GRCm39) nonsense probably null
R4883:Nedd4 UTSW 9 72,647,515 (GRCm39) splice site probably null
R5066:Nedd4 UTSW 9 72,617,801 (GRCm39) missense probably damaging 1.00
R5947:Nedd4 UTSW 9 72,638,132 (GRCm39) intron probably benign
R5974:Nedd4 UTSW 9 72,650,920 (GRCm39) critical splice donor site probably null
R6247:Nedd4 UTSW 9 72,633,720 (GRCm39) missense probably damaging 1.00
R6651:Nedd4 UTSW 9 72,638,553 (GRCm39) missense possibly damaging 0.49
R6661:Nedd4 UTSW 9 72,593,377 (GRCm39) missense probably damaging 1.00
R7170:Nedd4 UTSW 9 72,577,381 (GRCm39) missense probably benign 0.00
R7237:Nedd4 UTSW 9 72,632,346 (GRCm39) missense probably benign 0.04
R7653:Nedd4 UTSW 9 72,650,910 (GRCm39) missense probably damaging 1.00
R7772:Nedd4 UTSW 9 72,584,608 (GRCm39) missense possibly damaging 0.77
R7905:Nedd4 UTSW 9 72,584,661 (GRCm39) nonsense probably null
R8194:Nedd4 UTSW 9 72,593,389 (GRCm39) missense probably damaging 1.00
R8229:Nedd4 UTSW 9 72,638,670 (GRCm39) missense probably benign 0.00
R8422:Nedd4 UTSW 9 72,649,964 (GRCm39) missense probably damaging 0.99
R8487:Nedd4 UTSW 9 72,577,321 (GRCm39) missense probably damaging 0.98
R8733:Nedd4 UTSW 9 72,633,766 (GRCm39) missense possibly damaging 0.80
R8956:Nedd4 UTSW 9 72,633,708 (GRCm39) missense probably benign 0.03
R9261:Nedd4 UTSW 9 72,584,656 (GRCm39) missense possibly damaging 0.93
R9447:Nedd4 UTSW 9 72,577,381 (GRCm39) missense probably benign
Z1088:Nedd4 UTSW 9 72,577,360 (GRCm39) missense probably benign 0.22
Predicted Primers PCR Primer
(F):5'- TGCTCTATGTTAAAACAGCTTTGGC -3'
(R):5'- CATTGGTGAAAGCTAATGTGCC -3'

Sequencing Primer
(F):5'- GGCCAGCCTGATCTATATAATGAG -3'
(R):5'- GGTGAAAGCTAATGTGCCCATCTC -3'
Posted On 2014-10-02