Incidental Mutation 'R9442:Ntn1'
ID 731305
Institutional Source Beutler Lab
Gene Symbol Ntn1
Ensembl Gene ENSMUSG00000020902
Gene Name netrin 1
Synonyms Netrin-1
MMRRC Submission
Accession Numbers
Essential gene? Possibly essential (E-score: 0.721) question?
Stock # R9442 (G1)
Quality Score 82.0076
Status Validated
Chromosome 11
Chromosomal Location 68209364-68400823 bp(-) (GRCm38)
Type of Mutation intron
DNA Base Change (assembly) A to C at 68257659 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000104314 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021284] [ENSMUST00000108674]
AlphaFold O09118
Predicted Effect probably benign
Transcript: ENSMUST00000021284
SMART Domains Protein: ENSMUSP00000021284
Gene: ENSMUSG00000020902

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 benign
Transcript: ENSMUST00000108674
SMART Domains Protein: ENSMUSP00000104314
Gene: ENSMUSG00000020902

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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.3%
Validation Efficiency 100% (44/44)
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700122O11Rik T A 17: 48,036,771 K241N possibly damaging Het
Adam5 A T 8: 24,806,494 S312R probably damaging Het
Atg9a C T 1: 75,186,442 C338Y possibly damaging Het
Cage1 T C 13: 38,012,471 E749G possibly damaging Het
Catspere2 C A 1: 178,103,709 T398K unknown Het
Ccdc88b T C 19: 6,855,845 E278G probably damaging Het
Ccndbp1 T C 2: 121,008,532 V8A probably benign Het
Cenpt T C 8: 105,848,786 D228G probably benign Het
Cfap57 A G 4: 118,606,534 probably null Het
Cyp4a32 T A 4: 115,611,225 N301K probably benign Het
Epha6 T C 16: 60,205,487 T531A probably benign Het
Gmeb1 A T 4: 132,234,845 C168S probably damaging Het
H2-DMa G A 17: 34,138,158 R210H possibly damaging Het
Ighv1-7 T G 12: 114,538,578 T90P probably damaging Het
Kalrn A C 16: 34,095,879 M1R probably null Het
Kcnrg CACAACAA CACAA 14: 61,607,560 probably benign Het
Krtap14 T C 16: 88,825,977 D38G possibly damaging Het
Lrrc8e A G 8: 4,233,964 N63S probably benign Het
Map4k2 T A 19: 6,342,784 L152Q probably damaging Het
Mcf2l A G 8: 12,973,048 D78G possibly damaging Het
Ms4a6c T C 19: 11,472,487 V81A probably benign Het
Mtnr1b T C 9: 15,874,364 T33A probably benign Het
Muc16 T A 9: 18,655,328 Q1965L unknown Het
Nfatc2 A C 2: 168,486,978 probably benign Het
Nlrp9b C T 7: 20,045,782 T790I possibly damaging Het
Nol4 A T 18: 22,769,842 C371S probably damaging Het
Olfr114 A G 17: 37,589,742 S204P possibly damaging Het
Orc1 T C 4: 108,612,160 V727A probably benign Het
Phf20l1 C T 15: 66,613,039 Q318* probably null Het
Psg18 A T 7: 18,349,260 Y323* probably null Het
Ptk2b T C 14: 66,171,740 Y529C probably damaging Het
Rrm1 A G 7: 102,459,391 Y374C probably damaging Het
Selp T A 1: 164,137,196 F476I probably damaging Het
Sema3b A G 9: 107,601,758 probably null Het
Setdb2 T G 14: 59,402,400 T665P probably damaging Het
Sorbs3 T C 14: 70,186,938 Y515C probably damaging Het
St13 G A 15: 81,388,374 P90S possibly damaging Het
Stag1 T A 9: 100,954,253 I1197N probably damaging Het
Svs3a A G 2: 164,290,259 Y250C probably damaging Het
Ticam1 T C 17: 56,270,428 I556V probably benign Het
Vmn1r180 A G 7: 23,952,195 probably benign Het
Xirp2 T A 2: 67,511,891 L1492* probably null Het
Zfp438 A G 18: 5,214,379 V193A probably benign Het
Zfp729b A G 13: 67,591,218 V976A probably benign Het
Other mutations in Ntn1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00155:Ntn1 APN 11 68226619 splice site probably benign
IGL00972:Ntn1 APN 11 68213272 missense possibly damaging 0.83
IGL01695:Ntn1 APN 11 68226604 missense probably benign 0.00
IGL01731:Ntn1 APN 11 68385418 missense probably damaging 1.00
IGL02008:Ntn1 APN 11 68213263 missense probably damaging 1.00
IGL02584:Ntn1 APN 11 68277530 missense probably damaging 1.00
IGL02664:Ntn1 APN 11 68385469 missense probably benign 0.06
R0363:Ntn1 UTSW 11 68385543 missense probably benign 0.44
R1201:Ntn1 UTSW 11 68213226 missense probably damaging 0.96
R1268:Ntn1 UTSW 11 68213133 small deletion probably benign
R1913:Ntn1 UTSW 11 68213185 missense probably damaging 1.00
R2245:Ntn1 UTSW 11 68385294 missense probably benign 0.12
R2248:Ntn1 UTSW 11 68277572 missense possibly damaging 0.95
R2359:Ntn1 UTSW 11 68385612 missense probably damaging 1.00
R2862:Ntn1 UTSW 11 68385864 missense probably benign 0.00
R3830:Ntn1 UTSW 11 68385793 missense probably damaging 1.00
R3851:Ntn1 UTSW 11 68385793 missense probably damaging 1.00
R3852:Ntn1 UTSW 11 68385793 missense probably damaging 1.00
R4413:Ntn1 UTSW 11 68385910 missense probably damaging 1.00
R4870:Ntn1 UTSW 11 68213026 small deletion probably benign
R4871:Ntn1 UTSW 11 68213026 small deletion probably benign
R4952:Ntn1 UTSW 11 68213026 small deletion probably benign
R5001:Ntn1 UTSW 11 68260532 missense probably damaging 1.00
R5279:Ntn1 UTSW 11 68385712 missense probably benign 0.37
R6217:Ntn1 UTSW 11 68213332 missense possibly damaging 0.91
R6505:Ntn1 UTSW 11 68213199 missense probably damaging 1.00
R6669:Ntn1 UTSW 11 68385750 missense probably benign 0.00
R7172:Ntn1 UTSW 11 68385667 missense probably damaging 1.00
R7411:Ntn1 UTSW 11 68386089 missense probably benign 0.15
R8314:Ntn1 UTSW 11 68385624 missense probably damaging 1.00
R9216:Ntn1 UTSW 11 68226571 missense possibly damaging 0.76
R9385:Ntn1 UTSW 11 68385187 missense probably damaging 1.00
R9697:Ntn1 UTSW 11 68277530 missense probably damaging 1.00
R9752:Ntn1 UTSW 11 68385886 missense possibly damaging 0.80
X0027:Ntn1 UTSW 11 68385636 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TAAGGGGATTGATTGTCTCACC -3'
(R):5'- ACAAGATCAGCCCTGAGGAC -3'

Sequencing Primer
(F):5'- GGATTGATTGTCTCACCTTCCGG -3'
(R):5'- GCCCTGAGGACCGCCAG -3'
Posted On 2022-10-19