Incidental Mutation 'IGL02752:Ntn4'
ID 304243
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ntn4
Ensembl Gene ENSMUSG00000020019
Gene Name netrin 4
Synonyms beta-netrin
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02752
Quality Score
Status
Chromosome 10
Chromosomal Location 93476911-93581834 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 93546421 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 358 (V358A)
Ref Sequence ENSEMBL: ENSMUSP00000020204 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020204]
AlphaFold Q9JI33
Predicted Effect possibly damaging
Transcript: ENSMUST00000020204
AA Change: V358A

PolyPhen 2 Score 0.842 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000020204
Gene: ENSMUSG00000020019
AA Change: V358A

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
LamNT 28 260 6.48e-55 SMART
EGF_Lam 262 329 5.83e-7 SMART
EGF_Lam 332 392 3.32e-11 SMART
EGF_Lam 395 446 3.73e-14 SMART
C345C 516 625 5.58e-25 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the netrin family of proteins, which function in various biological processes including axon guidance, tumorogenesis, and angiogenesis. Netrins are laminin-related proteins that have an N-terminal laminin-type domain, epidermal growth factor-like repeat domain, and a positively charged heparin-binding domain at the C-terminus. The protein encoded by this gene is involved in processes including neurite growth and migration, angiogenesis and mural cell adhesion to endothelial cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2016]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased cell proliferation in the cornea without an increase in corneal thickness and increased microvessel branching in the middle levels of the retina. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5031439G07Rik C A 15: 84,840,042 (GRCm39) E145* probably null Het
Abca9 A G 11: 110,018,194 (GRCm39) F1142S probably damaging Het
Bod1l T C 5: 41,973,806 (GRCm39) T2503A possibly damaging Het
Bpi A G 2: 158,104,344 (GRCm39) D149G probably damaging Het
Cntnap5a A G 1: 116,508,261 (GRCm39) T1258A probably benign Het
Col4a3 A G 1: 82,637,946 (GRCm39) D256G unknown Het
Cul5 T C 9: 53,546,278 (GRCm39) T338A probably damaging Het
Efs A G 14: 55,154,880 (GRCm39) V453A probably damaging Het
Fbxw19 T A 9: 109,323,709 (GRCm39) N89Y probably benign Het
Fbxw8 A G 5: 118,280,815 (GRCm39) F114S probably damaging Het
Flnb A G 14: 7,917,338 (GRCm38) I1606V probably benign Het
Gpr158 A G 2: 21,831,638 (GRCm39) T913A possibly damaging Het
Gtf2f1 A T 17: 57,316,682 (GRCm39) probably benign Het
Gtf2ird1 T A 5: 134,387,678 (GRCm39) *1059L probably null Het
Hmgb4 T C 4: 128,154,134 (GRCm39) K145E probably damaging Het
Igf2bp2 T A 16: 21,898,860 (GRCm39) M250L probably benign Het
Igkv14-111 A G 6: 68,233,561 (GRCm39) K21E probably benign Het
Il6st C T 13: 112,616,729 (GRCm39) T92I probably damaging Het
Jak3 G T 8: 72,135,595 (GRCm39) V581L possibly damaging Het
Kank2 C T 9: 21,706,329 (GRCm39) V230M probably damaging Het
Kif1a G A 1: 92,967,569 (GRCm39) A1123V possibly damaging Het
Kpna4 T A 3: 69,002,863 (GRCm39) R125* probably null Het
Mybpc3 A T 2: 90,962,982 (GRCm39) probably null Het
Pacsin1 A T 17: 27,921,672 (GRCm39) probably null Het
Pcsk2 A G 2: 143,615,865 (GRCm39) N221S probably benign Het
Pik3cg A G 12: 32,254,262 (GRCm39) L575P probably damaging Het
Pkhd1 A T 1: 20,623,815 (GRCm39) V760E possibly damaging Het
Plxnc1 T C 10: 94,630,542 (GRCm39) probably null Het
Ppfia1 T C 7: 144,073,341 (GRCm39) T217A probably benign Het
Rictor A G 15: 6,816,852 (GRCm39) T1375A probably benign Het
Scn1a A G 2: 66,161,756 (GRCm39) I264T probably damaging Het
Sez6l2 T C 7: 126,552,905 (GRCm39) S164P probably damaging Het
Slc31a1 C T 4: 62,303,869 (GRCm39) probably benign Het
Slc45a1 T C 4: 150,722,478 (GRCm39) N469D probably benign Het
Slco1a5 T C 6: 142,208,438 (GRCm39) T76A probably benign Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Stfa3 G A 16: 36,270,999 (GRCm39) T95I probably damaging Het
Stk11ip A C 1: 75,501,325 (GRCm39) probably null Het
Tcn2 C A 11: 3,876,158 (GRCm39) S90I possibly damaging Het
Traf1 A G 2: 34,848,020 (GRCm39) S25P probably benign Het
Ttn G T 2: 76,622,125 (GRCm39) probably benign Het
Wdfy4 A T 14: 32,798,283 (GRCm39) I2041N probably damaging Het
Zfp512b A T 2: 181,229,864 (GRCm39) D556E possibly damaging Het
Zfpm2 T A 15: 40,965,415 (GRCm39) D633E probably benign Het
Other mutations in Ntn4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02052:Ntn4 APN 10 93,543,211 (GRCm39) missense probably damaging 1.00
IGL02212:Ntn4 APN 10 93,480,711 (GRCm39) missense possibly damaging 0.50
IGL02698:Ntn4 APN 10 93,480,521 (GRCm39) missense probably benign 0.19
PIT4468001:Ntn4 UTSW 10 93,480,587 (GRCm39) missense probably damaging 0.99
R0131:Ntn4 UTSW 10 93,480,569 (GRCm39) missense possibly damaging 0.89
R0131:Ntn4 UTSW 10 93,480,569 (GRCm39) missense possibly damaging 0.89
R0132:Ntn4 UTSW 10 93,480,569 (GRCm39) missense possibly damaging 0.89
R0419:Ntn4 UTSW 10 93,518,291 (GRCm39) missense probably benign 0.04
R1304:Ntn4 UTSW 10 93,543,215 (GRCm39) missense probably damaging 0.99
R1306:Ntn4 UTSW 10 93,543,215 (GRCm39) missense probably damaging 0.99
R1307:Ntn4 UTSW 10 93,543,215 (GRCm39) missense probably damaging 0.99
R1308:Ntn4 UTSW 10 93,543,215 (GRCm39) missense probably damaging 0.99
R1619:Ntn4 UTSW 10 93,480,596 (GRCm39) missense probably damaging 1.00
R1645:Ntn4 UTSW 10 93,543,215 (GRCm39) missense probably damaging 0.99
R1664:Ntn4 UTSW 10 93,543,215 (GRCm39) missense probably damaging 0.99
R1695:Ntn4 UTSW 10 93,569,464 (GRCm39) splice site probably null
R1796:Ntn4 UTSW 10 93,581,633 (GRCm39) missense probably damaging 1.00
R1806:Ntn4 UTSW 10 93,543,215 (GRCm39) missense probably damaging 0.99
R1845:Ntn4 UTSW 10 93,543,215 (GRCm39) missense probably damaging 0.99
R1856:Ntn4 UTSW 10 93,543,215 (GRCm39) missense probably damaging 0.99
R1872:Ntn4 UTSW 10 93,543,215 (GRCm39) missense probably damaging 0.99
R1879:Ntn4 UTSW 10 93,543,215 (GRCm39) missense probably damaging 0.99
R1901:Ntn4 UTSW 10 93,543,234 (GRCm39) missense possibly damaging 0.93
R1902:Ntn4 UTSW 10 93,543,234 (GRCm39) missense possibly damaging 0.93
R1925:Ntn4 UTSW 10 93,543,215 (GRCm39) missense probably damaging 0.99
R1926:Ntn4 UTSW 10 93,543,215 (GRCm39) missense probably damaging 0.99
R1927:Ntn4 UTSW 10 93,543,215 (GRCm39) missense probably damaging 0.99
R2060:Ntn4 UTSW 10 93,543,215 (GRCm39) missense probably damaging 0.99
R2113:Ntn4 UTSW 10 93,480,701 (GRCm39) missense probably damaging 1.00
R2202:Ntn4 UTSW 10 93,543,215 (GRCm39) missense probably damaging 0.99
R2203:Ntn4 UTSW 10 93,543,215 (GRCm39) missense probably damaging 0.99
R2975:Ntn4 UTSW 10 93,480,753 (GRCm39) missense probably damaging 1.00
R4277:Ntn4 UTSW 10 93,577,072 (GRCm39) missense possibly damaging 0.95
R4805:Ntn4 UTSW 10 93,480,362 (GRCm39) missense probably damaging 0.99
R4806:Ntn4 UTSW 10 93,480,362 (GRCm39) missense probably damaging 0.99
R4807:Ntn4 UTSW 10 93,480,362 (GRCm39) missense probably damaging 0.99
R5818:Ntn4 UTSW 10 93,480,626 (GRCm39) missense probably benign 0.40
R6048:Ntn4 UTSW 10 93,543,128 (GRCm39) splice site probably null
R6051:Ntn4 UTSW 10 93,581,657 (GRCm39) missense probably benign
R6346:Ntn4 UTSW 10 93,480,723 (GRCm39) missense probably damaging 1.00
R6752:Ntn4 UTSW 10 93,570,037 (GRCm39) missense probably benign
R7196:Ntn4 UTSW 10 93,569,576 (GRCm39) missense probably benign 0.01
R7240:Ntn4 UTSW 10 93,581,603 (GRCm39) missense probably damaging 0.99
R7365:Ntn4 UTSW 10 93,480,666 (GRCm39) missense probably damaging 1.00
R7374:Ntn4 UTSW 10 93,518,434 (GRCm39) missense probably benign
R7505:Ntn4 UTSW 10 93,543,146 (GRCm39) missense probably damaging 1.00
R7509:Ntn4 UTSW 10 93,546,430 (GRCm39) missense probably benign 0.01
R7726:Ntn4 UTSW 10 93,569,544 (GRCm39) missense possibly damaging 0.82
R7957:Ntn4 UTSW 10 93,480,335 (GRCm39) splice site probably benign
R8092:Ntn4 UTSW 10 93,576,918 (GRCm39) missense probably damaging 0.97
R8202:Ntn4 UTSW 10 93,480,765 (GRCm39) missense possibly damaging 0.88
R8508:Ntn4 UTSW 10 93,576,966 (GRCm39) missense possibly damaging 0.48
R9008:Ntn4 UTSW 10 93,569,466 (GRCm39) splice site probably benign
R9010:Ntn4 UTSW 10 93,480,506 (GRCm39) missense
R9115:Ntn4 UTSW 10 93,569,675 (GRCm39) missense probably benign
R9415:Ntn4 UTSW 10 93,480,488 (GRCm39) missense probably benign 0.00
RF045:Ntn4 UTSW 10 93,546,487 (GRCm39) missense possibly damaging 0.95
X0024:Ntn4 UTSW 10 93,480,833 (GRCm39) missense probably damaging 1.00
Z1176:Ntn4 UTSW 10 93,577,015 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16