Mutagenetix > Incidental Mutation

Incidental Mutation 'R1304:Ntn4'

157754

Institutional Source

Beutler Lab

Gene Symbol

Ntn4

Ensembl Gene

ENSMUSG00000020019

Gene Name

netrin 4

Synonyms

beta-netrin

MMRRC Submission

039370-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1304 (G1)

Quality Score

225

Status

Not validated

Chromosome

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

Domain	Start	End	E-Value	Type
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

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.4%
20x: 90.4%

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: 15 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankmy2	T	G	12: 36,236,804 (GRCm39)	I204S	probably damaging	Het
Cdh12	T	G	15: 21,584,023 (GRCm39)	L621R	probably benign	Het
Dnah9	A	G	11: 65,818,414 (GRCm39)	I3308T	probably damaging	Het
Dync2h1	A	G	9: 7,102,318 (GRCm39)	L454P	probably damaging	Het
Ece2	A	G	16: 20,430,532 (GRCm39)	E53G	probably damaging	Het
Kcp	T	A	6: 29,501,291 (GRCm39)		probably benign	Het
Lyst	C	A	13: 13,926,569 (GRCm39)	Y3458*	probably null	Het
Or12e13	C	T	2: 87,664,049 (GRCm39)	T222I	possibly damaging	Het
Or9g4	T	C	2: 85,504,682 (GRCm39)	D271G	probably damaging	Het
Pde6a	A	G	18: 61,391,364 (GRCm39)	T570A	probably damaging	Het
Plekha1	A	G	7: 130,503,949 (GRCm39)	T219A	probably benign	Het
Prkdc	T	A	16: 15,577,587 (GRCm39)	F2380L	probably damaging	Het
Slc35b4	T	A	6: 34,140,300 (GRCm39)	K151*	probably null	Het
Tmem241	A	G	18: 12,203,135 (GRCm39)		probably null	Het
Zfp607a	C	A	7: 27,565,000 (GRCm39)	R56S	probably benign	Het

Other mutations in Ntn4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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

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