Incidental Mutation 'R2245:Ntn1'
ID 240635
Institutional Source Beutler Lab
Gene Symbol Ntn1
Ensembl Gene ENSMUSG00000020902
Gene Name netrin 1
Synonyms Netrin-1
MMRRC Submission 040245-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.735) question?
Stock # R2245 (G1)
Quality Score 169
Status Validated
Chromosome 11
Chromosomal Location 68100190-68277652 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 68276120 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 276 (V276A)
Ref Sequence ENSEMBL: ENSMUSP00000104314 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021284] [ENSMUST00000108674] [ENSMUST00000135141]
AlphaFold O09118
Predicted Effect probably benign
Transcript: ENSMUST00000021284
AA Change: V276A

PolyPhen 2 Score 0.121 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000021284
Gene: ENSMUSG00000020902
AA Change: V276A

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
AA Change: V276A

PolyPhen 2 Score 0.121 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000104314
Gene: ENSMUSG00000020902
AA Change: V276A

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: ENSMUST00000135141
SMART Domains Protein: ENSMUSP00000121193
Gene: ENSMUSG00000020902

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
LamNT 45 159 6.8e-15 SMART
Meta Mutation Damage Score 0.3129 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.9%
Validation Efficiency 100% (31/31)
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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl3 A G 7: 82,099,308 (GRCm39) Q154R probably damaging Het
Alpk2 A G 18: 65,438,234 (GRCm39) L1520P probably benign Het
Brd1 A G 15: 88,574,063 (GRCm39) probably null Het
Ccdc158 A G 5: 92,757,811 (GRCm39) probably benign Het
Cep350 C A 1: 155,754,766 (GRCm39) V1950F probably benign Het
Csnk1d A G 11: 120,863,229 (GRCm39) I237T probably damaging Het
Ddah2 T C 17: 35,280,561 (GRCm39) L234P probably damaging Het
Dysf G A 6: 84,163,491 (GRCm39) probably null Het
Ephb1 A C 9: 101,873,973 (GRCm39) probably benign Het
Jarid2 T A 13: 45,059,752 (GRCm39) N661K probably damaging Het
Muc6 G A 7: 141,218,313 (GRCm39) S2120F possibly damaging Het
Myadml2 A T 11: 120,538,656 (GRCm39) F60I probably damaging Het
Myo15a T C 11: 60,399,925 (GRCm39) V2893A probably damaging Het
Or11h6 T A 14: 50,880,062 (GRCm39) I102N probably damaging Het
Or4c111 A T 2: 88,843,493 (GRCm39) I305K probably benign Het
Or7a39 A G 10: 78,715,765 (GRCm39) Y253C probably damaging Het
Otof T C 5: 30,527,551 (GRCm39) Y1962C probably damaging Het
Pcf11 T C 7: 92,315,080 (GRCm39) probably benign Het
Polr2a A G 11: 69,626,009 (GRCm39) S1676P unknown Het
Prpf40b A G 15: 99,203,047 (GRCm39) probably benign Het
Ptprh T C 7: 4,576,345 (GRCm39) D305G probably benign Het
Rdh16f2 A G 10: 127,712,145 (GRCm39) K201E probably damaging Het
Slc19a3 T C 1: 82,991,691 (GRCm39) Y439C possibly damaging Het
Son G T 16: 91,444,848 (GRCm39) probably null Het
Specc1 T C 11: 62,022,713 (GRCm39) L710P probably damaging Het
Tex15 A G 8: 34,061,524 (GRCm39) D592G possibly damaging Het
Tmem237 A T 1: 59,147,863 (GRCm39) D209E probably damaging Het
Vmn2r106 T C 17: 20,488,423 (GRCm39) T659A probably benign Het
Vmn2r71 T A 7: 85,273,388 (GRCm39) I734N probably damaging Het
Wdr7 A T 18: 64,057,980 (GRCm39) I1270F possibly damaging 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
IGL02008:Ntn1 APN 11 68,104,089 (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
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
Predicted Primers PCR Primer
(F):5'- CTGTAAGGTCTCCGAAACCCAC -3'
(R):5'- TGATCGCTTTCAGCACGCTG -3'

Sequencing Primer
(F):5'- ACTATCCCGCGATGCTCG -3'
(R):5'- GCACGACTTCGACAACT -3'
Posted On 2014-10-15