Mutagenetix > Incidental Mutation

Incidental Mutation 'R2975:Ntn4'

255350

Institutional Source

Beutler Lab

Gene Symbol

Ntn4

Ensembl Gene

ENSMUSG00000020019

Gene Name

netrin 4

Synonyms

beta-netrin

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2975 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

93476911-93581834 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 93480753 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 122 (Y122C)

Ref Sequence

ENSEMBL: ENSMUSP00000123306 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020204] [ENSMUST00000147080]

AlphaFold

Q9JI33

Predicted Effect

probably damaging
Transcript: ENSMUST00000020204
AA Change: Y159C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000020204
Gene: ENSMUSG00000020019
AA Change: Y159C

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000147080
AA Change: Y122C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000123306
Gene: ENSMUSG00000020019
AA Change: Y122C

Domain	Start	End	E-Value	Type
LamNT	1	143	4.24e-12	SMART

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi1	T	C	2: 22,847,099 (GRCm39)	N251D	probably damaging	Het
Cdca3	A	T	6: 124,807,616 (GRCm39)		probably null	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Fut8	T	C	12: 77,411,787 (GRCm39)	V83A	probably benign	Het
Gnb1l	T	C	16: 18,383,016 (GRCm39)	S352P	probably damaging	Het
Hmgxb3	A	T	18: 61,296,038 (GRCm39)	Y323*	probably null	Het
Katna1	A	T	10: 7,619,473 (GRCm39)	K160N	probably benign	Het
Kif7	C	A	7: 79,360,008 (GRCm39)	A410S	probably damaging	Het
Mrpl43	T	C	19: 44,994,498 (GRCm39)		probably null	Het
Muc6	T	A	7: 141,216,951 (GRCm39)	E2574V	possibly damaging	Het
Naip6	A	G	13: 100,424,695 (GRCm39)	V1199A	probably damaging	Het
Pon3	A	G	6: 5,232,345 (GRCm39)	I225T	probably damaging	Het
Rrp1b	T	A	17: 32,277,547 (GRCm39)	V609E	probably damaging	Het
Scube1	T	C	15: 83,543,299 (GRCm39)	T180A	probably damaging	Het
Tas2r136	C	A	6: 132,754,972 (GRCm39)	V52L	probably damaging	Het
Tas2r138	A	G	6: 40,590,198 (GRCm39)	I16T	probably benign	Het
Traf3ip2	A	C	10: 39,502,536 (GRCm39)	Q228P	probably benign	Het
Vmn2r54	A	G	7: 12,369,919 (GRCm39)	M48T	possibly damaging	Het
Washc5	T	C	15: 59,217,207 (GRCm39)	N787D	probably damaging	Het
Zbed6	T	C	1: 133,585,975 (GRCm39)	Y454C	probably damaging	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
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
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
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'- CATGGCAGACTCATCCTTCAG -3'
(R):5'- TGACTGAAATCCAGCCAGTG -3'

Sequencing Primer
(F):5'- TTCAGGTTTCCCCGGACATGG -3'
(R):5'- GTGCAAATAGCTCCCTTC -3'

Posted On

2014-12-29