Incidental Mutation 'IGL02008:Ntn1'
ID 183234
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ntn1
Ensembl Gene ENSMUSG00000020902
Gene Name netrin 1
Synonyms Netrin-1
Accession Numbers
Essential gene? Possibly essential (E-score: 0.735) question?
Stock # IGL02008
Quality Score
Status
Chromosome 11
Chromosomal Location 68100190-68277652 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 68104089 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 520 (V520M)
Ref Sequence ENSEMBL: ENSMUSP00000104314 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021284] [ENSMUST00000108674]
AlphaFold O09118
Predicted Effect probably damaging
Transcript: ENSMUST00000021284
AA Change: V520M

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000021284
Gene: ENSMUSG00000020902
AA Change: V520M

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
LamNT 45 283 7.14e-148 SMART
EGF_Lam 285 338 2.44e-9 SMART
EGF_Lam 341 401 3.01e-9 SMART
EGF_Lam 404 451 8.43e-13 SMART
C345C 487 595 1.67e-37 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000108674
AA Change: V520M

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000104314
Gene: ENSMUSG00000020902
AA Change: V520M

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
LamNT 45 283 7.14e-148 SMART
EGF_Lam 285 338 2.44e-9 SMART
EGF_Lam 341 401 3.01e-9 SMART
EGF_Lam 404 451 8.43e-13 SMART
C345C 487 595 1.67e-37 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Netrin is included in a family of laminin-related secreted proteins. The function of this gene has not yet been defined; however, netrin is thought to be involved in axon guidance and cell migration during development. Mutations and loss of expression of netrin suggest that variation in netrin may be involved in cancer development. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted mutations exhibit impaired axonal migration, abnormal semicircular canals, lack of corpus callosum, aberrant commissures, hypoplasia of the optic nerve, motor and balance defects, failure to suckle, and neonatal death. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 A G 3: 121,969,750 (GRCm39) T2252A probably benign Het
Abcc2 C T 19: 43,810,189 (GRCm39) probably benign Het
Abcf1 T C 17: 36,272,954 (GRCm39) E231G probably benign Het
Astn2 T C 4: 65,977,390 (GRCm39) Y379C probably damaging Het
Atp8b1 G T 18: 64,671,766 (GRCm39) probably benign Het
Atr T A 9: 95,763,473 (GRCm39) probably benign Het
Bdp1 A G 13: 100,160,335 (GRCm39) S2349P possibly damaging Het
Bmp2 T C 2: 133,402,886 (GRCm39) S146P probably damaging Het
Cacna1c T C 6: 118,692,885 (GRCm39) S218G probably null Het
Cand2 T C 6: 115,780,599 (GRCm39) V1161A probably damaging Het
Clec16a T C 16: 10,398,824 (GRCm39) V330A probably damaging Het
Cpsf1 A T 15: 76,487,291 (GRCm39) V161D probably damaging Het
Ctsh A G 9: 89,943,600 (GRCm39) Y75C probably damaging Het
Cyp26c1 C A 19: 37,677,371 (GRCm39) L267M probably damaging Het
Cyp26c1 T A 19: 37,677,372 (GRCm39) L267Q probably damaging Het
Cyp2c50 G A 19: 40,079,543 (GRCm39) W212* probably null Het
Dnah5 T A 15: 28,343,698 (GRCm39) M2366K probably damaging Het
Ermp1 A G 19: 29,590,320 (GRCm39) M794T probably damaging Het
F11 G T 8: 45,703,132 (GRCm39) S186Y probably damaging Het
Fam184b A T 5: 45,690,165 (GRCm39) F815I possibly damaging Het
Fezf2 T C 14: 12,343,705 (GRCm38) I347V probably benign Het
Fip1l1 C T 5: 74,706,084 (GRCm39) T114I possibly damaging Het
Gbp7 A C 3: 142,252,211 (GRCm39) D598A probably benign Het
Gm1110 T A 9: 26,794,526 (GRCm39) D500V probably benign Het
Gm3248 T A 14: 5,943,928 (GRCm38) M99L probably benign Het
Gpi-ps A T 8: 5,689,896 (GRCm39) noncoding transcript Het
Hspa9 G A 18: 35,081,028 (GRCm39) R218* probably null Het
Ikbip G A 10: 90,929,119 (GRCm39) probably null Het
Kcnb2 C T 1: 15,781,033 (GRCm39) T635M probably benign Het
Krtap29-1 T A 11: 99,869,105 (GRCm39) I259F possibly damaging Het
Lnpep T C 17: 17,791,219 (GRCm39) T442A probably benign Het
Mgat1 T A 11: 49,151,562 (GRCm39) I15N probably damaging Het
Nlrp9c A T 7: 26,084,576 (GRCm39) S334R probably benign Het
Notch2 A T 3: 98,054,612 (GRCm39) D2425V probably damaging Het
Or10d1b A G 9: 39,613,549 (GRCm39) V172A probably damaging Het
Or4p18 T A 2: 88,232,421 (GRCm39) T286S possibly damaging Het
Or5d39 A T 2: 87,979,922 (GRCm39) V147E probably damaging Het
Or6c3b T A 10: 129,527,887 (GRCm39) T8S probably benign Het
Or8g55 A T 9: 39,784,781 (GRCm39) D70V probably damaging Het
Or8k39 A C 2: 86,563,521 (GRCm39) I145R possibly damaging Het
Osr2 A G 15: 35,302,138 (GRCm39) H246R probably damaging Het
Papolg T C 11: 23,829,898 (GRCm39) R224G probably damaging Het
Pax6 T A 2: 105,522,623 (GRCm39) probably null Het
Pcyox1 A G 6: 86,369,250 (GRCm39) V192A probably benign Het
Phf1 C T 17: 27,154,260 (GRCm39) A159V possibly damaging Het
Ppfia4 G A 1: 134,260,129 (GRCm39) R45W probably damaging Het
Psmb9 T A 17: 34,402,653 (GRCm39) K109M probably damaging Het
Ptprt T A 2: 161,769,593 (GRCm39) Y424F probably benign Het
Ptrh2 A G 11: 86,580,592 (GRCm39) I70V probably benign Het
Rnf213 G A 11: 119,309,135 (GRCm39) probably benign Het
Rom1 T A 19: 8,905,368 (GRCm39) I271F probably benign Het
Satb2 T A 1: 56,835,952 (GRCm39) D731V possibly damaging Het
Serpinb7 G T 1: 107,375,859 (GRCm39) G159V possibly damaging Het
Slit1 T C 19: 41,634,579 (GRCm39) I393V probably damaging Het
Spata20 T A 11: 94,374,289 (GRCm39) D327V probably damaging Het
Spata31e3 G A 13: 50,400,721 (GRCm39) P535L probably benign Het
Spmap2l A T 5: 77,208,605 (GRCm39) I378L probably benign Het
Tbc1d32 G T 10: 56,027,871 (GRCm39) Q744K possibly damaging Het
Tmem108 G T 9: 103,366,439 (GRCm39) N517K possibly damaging Het
Trp63 T A 16: 25,681,211 (GRCm39) N160K probably damaging Het
Ttll5 T C 12: 85,980,385 (GRCm39) S119P probably damaging Het
Ubqln3 T A 7: 103,791,523 (GRCm39) Q189L probably damaging Het
Vwa5a G A 9: 38,649,072 (GRCm39) R638H probably benign Het
Wdr3 A G 3: 100,058,298 (GRCm39) S436P probably damaging Het
Zfp975 A T 7: 42,312,215 (GRCm39) C133S probably damaging Het
Zfp976 A T 7: 42,263,656 (GRCm39) probably benign Het
Zmiz1 A G 14: 25,657,303 (GRCm39) M860V probably damaging Het
Zscan4d T C 7: 10,896,296 (GRCm39) E358G probably benign Het
Other mutations in Ntn1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00155:Ntn1 APN 11 68,117,445 (GRCm39) splice site probably benign
IGL00972:Ntn1 APN 11 68,104,098 (GRCm39) missense possibly damaging 0.83
IGL01695:Ntn1 APN 11 68,117,430 (GRCm39) missense probably benign 0.00
IGL01731:Ntn1 APN 11 68,276,244 (GRCm39) missense probably damaging 1.00
IGL02584:Ntn1 APN 11 68,168,356 (GRCm39) missense probably damaging 1.00
IGL02664:Ntn1 APN 11 68,276,295 (GRCm39) missense probably benign 0.06
R0363:Ntn1 UTSW 11 68,276,369 (GRCm39) missense probably benign 0.44
R1201:Ntn1 UTSW 11 68,104,052 (GRCm39) missense probably damaging 0.96
R1268:Ntn1 UTSW 11 68,103,959 (GRCm39) small deletion probably benign
R1913:Ntn1 UTSW 11 68,104,011 (GRCm39) missense probably damaging 1.00
R2245:Ntn1 UTSW 11 68,276,120 (GRCm39) missense probably benign 0.12
R2248:Ntn1 UTSW 11 68,168,398 (GRCm39) missense possibly damaging 0.95
R2359:Ntn1 UTSW 11 68,276,438 (GRCm39) missense probably damaging 1.00
R2862:Ntn1 UTSW 11 68,276,690 (GRCm39) missense probably benign 0.00
R3830:Ntn1 UTSW 11 68,276,619 (GRCm39) missense probably damaging 1.00
R3851:Ntn1 UTSW 11 68,276,619 (GRCm39) missense probably damaging 1.00
R3852:Ntn1 UTSW 11 68,276,619 (GRCm39) missense probably damaging 1.00
R4413:Ntn1 UTSW 11 68,276,736 (GRCm39) missense probably damaging 1.00
R4870:Ntn1 UTSW 11 68,103,852 (GRCm39) small deletion probably benign
R4871:Ntn1 UTSW 11 68,103,852 (GRCm39) small deletion probably benign
R4952:Ntn1 UTSW 11 68,103,852 (GRCm39) small deletion probably benign
R5001:Ntn1 UTSW 11 68,151,358 (GRCm39) missense probably damaging 1.00
R5279:Ntn1 UTSW 11 68,276,538 (GRCm39) missense probably benign 0.37
R6217:Ntn1 UTSW 11 68,104,158 (GRCm39) missense possibly damaging 0.91
R6505:Ntn1 UTSW 11 68,104,025 (GRCm39) missense probably damaging 1.00
R6669:Ntn1 UTSW 11 68,276,576 (GRCm39) missense probably benign 0.00
R7172:Ntn1 UTSW 11 68,276,493 (GRCm39) missense probably damaging 1.00
R7411:Ntn1 UTSW 11 68,276,915 (GRCm39) missense probably benign 0.15
R8314:Ntn1 UTSW 11 68,276,450 (GRCm39) missense probably damaging 1.00
R9216:Ntn1 UTSW 11 68,117,397 (GRCm39) missense possibly damaging 0.76
R9385:Ntn1 UTSW 11 68,276,013 (GRCm39) missense probably damaging 1.00
R9442:Ntn1 UTSW 11 68,148,485 (GRCm39) intron probably benign
R9697:Ntn1 UTSW 11 68,168,356 (GRCm39) missense probably damaging 1.00
R9752:Ntn1 UTSW 11 68,276,712 (GRCm39) missense possibly damaging 0.80
X0027:Ntn1 UTSW 11 68,276,462 (GRCm39) missense probably damaging 1.00
Posted On 2014-05-07