Incidental Mutation 'R1308:Ntn4'
ID 157860
Institutional Source Beutler Lab
Gene Symbol Ntn4
Ensembl Gene ENSMUSG00000020019
Gene Name netrin 4
Synonyms beta-netrin
MMRRC Submission 039374-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1308 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 93476911-93581834 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 93543215 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Tryptophan at position 314 (R314W)
Ref Sequence ENSEMBL: ENSMUSP00000020204 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020204]
AlphaFold Q9JI33
Predicted Effect probably damaging
Transcript: ENSMUST00000020204
AA Change: R314W

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000020204
Gene: ENSMUSG00000020019
AA Change: R314W

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
Meta Mutation Damage Score 0.6651 question?
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.9%
  • 10x: 95.2%
  • 20x: 89.3%
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: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Angpt2 C T 8: 18,742,134 (GRCm39) W474* probably null Het
Cln6 A G 9: 62,758,143 (GRCm39) T301A probably damaging Het
G6pc2 A T 2: 69,050,570 (GRCm39) D65V probably damaging Het
Havcr1 C T 11: 46,647,097 (GRCm39) T177I probably damaging Het
Jph1 A G 1: 17,161,918 (GRCm39) I248T probably damaging Het
Lamc2 A G 1: 153,026,564 (GRCm39) L230P probably damaging Het
Lmnb1 A G 18: 56,861,547 (GRCm39) K146R probably benign Het
Map3k6 T C 4: 132,973,126 (GRCm39) S395P probably damaging Het
Myo6 G A 9: 80,152,996 (GRCm39) V210I probably damaging Het
Otoa C A 7: 120,724,666 (GRCm39) C448* probably null Het
Pate6 T C 9: 35,700,385 (GRCm39) T67A probably benign Het
Prkcg G C 7: 3,377,622 (GRCm39) K525N probably damaging Het
Pros1 G A 16: 62,734,228 (GRCm39) D345N probably damaging Het
Prss47 T C 13: 65,199,630 (GRCm39) H83R probably benign Het
R3hdml G T 2: 163,344,319 (GRCm39) C236F probably damaging Het
Snrnp40 C G 4: 130,271,836 (GRCm39) probably null Het
Syt12 A T 19: 4,510,763 (GRCm39) V37E probably damaging Het
Tekt2 A T 4: 126,218,711 (GRCm39) L14H probably damaging Het
Tnpo2 T C 8: 85,781,982 (GRCm39) F857S probably damaging Het
Wdr27 T C 17: 15,148,646 (GRCm39) T116A probably damaging 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
IGL02752:Ntn4 APN 10 93,546,421 (GRCm39) missense possibly damaging 0.84
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
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
Predicted Primers PCR Primer
(F):5'- AGGGTACACACTCTAGCACTTAGCTAC -3'
(R):5'- AGCACATTCTTGGCTACTCAGGC -3'

Sequencing Primer
(F):5'- GCAGAATTTCTCACTGGAGC -3'
(R):5'- TGCAGGCTGTTTCCAACG -3'
Posted On 2014-02-18