Mutagenetix > Incidental Mutations

Incidental Mutation 'R1926:Ntn4'

265997

Institutional Source

Beutler Lab

Gene Symbol

Ntn4

Ensembl Gene

ENSMUSG00000020019

Gene Name

netrin 4

Synonyms

beta-netrin

MMRRC Submission

039944-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1926 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

93640681-93747207 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 93707353 bp

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]

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: 97.3%
3x: 96.7%
10x: 95.0%
20x: 91.6%

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810474O19Rik	C	T	6: 149,329,404	T1316I	probably benign	Het
Acsm3	C	T	7: 119,777,136	T362M	probably damaging	Het
Ang6	A	G	14: 44,002,238	V11A	possibly damaging	Het
Ankrd17	A	G	5: 90,244,169	Y1880H	probably damaging	Het
BC049730	G	A	7: 24,714,116	G186R	probably damaging	Het
Bmi1	A	G	2: 18,682,273	I55V	probably benign	Het
Bnipl	G	A	3: 95,243,043	T297M	probably damaging	Het
Bpifa2	T	C	2: 154,013,749	V198A	probably benign	Het
Brms1l	G	T	12: 55,863,161	V239F	possibly damaging	Het
Ccdc158	A	G	5: 92,650,788	V351A	probably benign	Het
Ces1c	A	G	8: 93,127,604	F101S	possibly damaging	Het
Cpb2	T	C	14: 75,242,397	Y15H	probably benign	Het
Dglucy	A	T	12: 100,867,155	N535I	possibly damaging	Het
Dopey1	C	A	9: 86,523,019	H1763Q	probably damaging	Het
Dpy19l1	C	T	9: 24,473,824	M236I	probably benign	Het
Efna2	T	C	10: 80,186,876	Y85H	probably damaging	Het
Eipr1	A	T	12: 28,864,837		probably null	Het
Eln	A	T	5: 134,706,567	Y787*	probably null	Het
Erbb2	G	C	11: 98,425,164	E364D	probably benign	Het
F5	A	G	1: 164,179,508	T294A	probably damaging	Het
Fam47e	A	G	5: 92,585,385	T194A	possibly damaging	Het
Galk1	T	C	11: 116,010,247	D202G	probably damaging	Het
Glb1l2	T	C	9: 26,771,066	D163G	probably damaging	Het
Gmip	A	G	8: 69,815,520	E408G	probably benign	Het
Gp1ba	A	T	11: 70,640,889		probably benign	Het
Grm3	A	T	5: 9,504,881	C804S	probably damaging	Het
Gzmd	A	G	14: 56,130,280	C179R	probably damaging	Het
Hadhb	T	A	5: 30,180,937	L415Q	possibly damaging	Het
Ift80	T	C	3: 68,916,165	Y588C	probably damaging	Het
Jazf1	T	C	6: 53,068,531	T13A	probably benign	Het
Kat8	T	A	7: 127,915,295	Y67*	probably null	Het
Kcnab1	G	A	3: 65,376,512	E384K	possibly damaging	Het
Lhx3	A	T	2: 26,202,188	Y230*	probably null	Het
Lmx1b	T	A	2: 33,564,662	M365L	probably damaging	Het
Ly6k	G	T	15: 74,797,202	P76Q	probably benign	Het
Map1b	A	T	13: 99,430,692	H1840Q	unknown	Het
Map3k2	A	G	18: 32,203,110	I117V	probably damaging	Het
Med13	C	A	11: 86,289,073	A1350S	possibly damaging	Het
Midn	T	C	10: 80,151,661	S109P	probably damaging	Het
Msh6	A	G	17: 87,986,225	T803A	probably benign	Het
Nckap1	T	C	2: 80,506,838	Y1018C	probably damaging	Het
Ndufc1	A	T	3: 51,407,395	N63K	probably benign	Het
Neb	A	T	2: 52,279,635	S1811R	probably damaging	Het
Notch1	T	C	2: 26,481,657	D260G	probably damaging	Het
Oas1g	T	C	5: 120,879,142	K283R	probably benign	Het
Obscn	T	C	11: 59,063,474	T4037A		Het
Olfr1414	A	G	1: 92,511,608	L140P	probably damaging	Het
Olfr449	T	G	6: 42,838,313	L144R	probably damaging	Het
Otop2	A	T	11: 115,326,955	T206S	probably benign	Het
Pamr1	A	G	2: 102,640,997		probably null	Het
Pkp1	G	A	1: 135,877,673	T675I	probably benign	Het
Plxna2	G	A	1: 194,762,450	V717I	probably benign	Het
Ptgs2	T	C	1: 150,100,228	L2P	possibly damaging	Het
Rarg	A	G	15: 102,239,545	F277S	probably damaging	Het
Rassf5	A	T	1: 131,212,339	I161N	probably damaging	Het
Rxfp4	A	G	3: 88,652,352	V264A	probably benign	Het
Secisbp2l	T	A	2: 125,740,677	Q953L	probably damaging	Het
Serpinb9c	T	C	13: 33,150,235	I275V	probably benign	Het
Slc2a12	T	C	10: 22,665,242	V332A	probably damaging	Het
Slc7a1	T	C	5: 148,348,303	S127G	probably damaging	Het
Slc7a4	A	T	16: 17,575,704	V77E	probably damaging	Het
Sp8	G	A	12: 118,849,229	S273N	possibly damaging	Het
Spag6l	G	T	16: 16,763,057	N475K	probably benign	Het
St18	A	G	1: 6,802,689	H216R	probably benign	Het
Tcirg1	C	T	19: 3,902,843		probably benign	Het
Tmeff1	A	G	4: 48,658,788	Y87C	probably damaging	Het
Tmem94	T	C	11: 115,792,900	V713A	possibly damaging	Het
Tnrc6b	G	T	15: 80,881,162	R955L	probably damaging	Het
Trip12	A	G	1: 84,749,291	V1153A	probably damaging	Het
Tshz3	T	C	7: 36,769,375	L263S	probably damaging	Het
Tubb6	G	A	18: 67,401,321		probably null	Het
Ube3a	T	C	7: 59,276,379	W302R	probably damaging	Het
Vcpkmt	A	T	12: 69,582,745	V81E	probably damaging	Het
Vmn1r175	T	A	7: 23,809,041	I54F	possibly damaging	Het
Vwa8	T	A	14: 79,020,635	N741K	probably benign	Het
Yeats2	A	G	16: 20,214,426	T1034A	probably benign	Het
Zc3h6	G	A	2: 128,997,795	R176Q	probably damaging	Het
Zfp207	T	A	11: 80,395,427	Y424*	probably null	Het
Zfp729a	A	G	13: 67,619,557	V851A	probably benign	Het
Zkscan1	G	T	5: 138,101,363	A450S	probably benign	Het
Zkscan3	A	G	13: 21,396,446	V24A	possibly damaging	Het

Other mutations in Ntn4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02052:Ntn4	APN	10	93707349	missense	probably damaging	1.00
IGL02212:Ntn4	APN	10	93644849	missense	possibly damaging	0.50
IGL02698:Ntn4	APN	10	93644659	missense	probably benign	0.19
IGL02752:Ntn4	APN	10	93710559	missense	possibly damaging	0.84
PIT4468001:Ntn4	UTSW	10	93644725	missense	probably damaging	0.99
R0131:Ntn4	UTSW	10	93644707	missense	possibly damaging	0.89
R0131:Ntn4	UTSW	10	93644707	missense	possibly damaging	0.89
R0132:Ntn4	UTSW	10	93644707	missense	possibly damaging	0.89
R0419:Ntn4	UTSW	10	93682429	missense	probably benign	0.04
R1304:Ntn4	UTSW	10	93707353	missense	probably damaging	0.99
R1306:Ntn4	UTSW	10	93707353	missense	probably damaging	0.99
R1307:Ntn4	UTSW	10	93707353	missense	probably damaging	0.99
R1308:Ntn4	UTSW	10	93707353	missense	probably damaging	0.99
R1619:Ntn4	UTSW	10	93644734	missense	probably damaging	1.00
R1645:Ntn4	UTSW	10	93707353	missense	probably damaging	0.99
R1664:Ntn4	UTSW	10	93707353	missense	probably damaging	0.99
R1695:Ntn4	UTSW	10	93733602	splice site	probably null
R1796:Ntn4	UTSW	10	93745771	missense	probably damaging	1.00
R1806:Ntn4	UTSW	10	93707353	missense	probably damaging	0.99
R1845:Ntn4	UTSW	10	93707353	missense	probably damaging	0.99
R1856:Ntn4	UTSW	10	93707353	missense	probably damaging	0.99
R1872:Ntn4	UTSW	10	93707353	missense	probably damaging	0.99
R1879:Ntn4	UTSW	10	93707353	missense	probably damaging	0.99
R1901:Ntn4	UTSW	10	93707372	missense	possibly damaging	0.93
R1902:Ntn4	UTSW	10	93707372	missense	possibly damaging	0.93
R1925:Ntn4	UTSW	10	93707353	missense	probably damaging	0.99
R1927:Ntn4	UTSW	10	93707353	missense	probably damaging	0.99
R2060:Ntn4	UTSW	10	93707353	missense	probably damaging	0.99
R2113:Ntn4	UTSW	10	93644839	missense	probably damaging	1.00
R2202:Ntn4	UTSW	10	93707353	missense	probably damaging	0.99
R2203:Ntn4	UTSW	10	93707353	missense	probably damaging	0.99
R2975:Ntn4	UTSW	10	93644891	missense	probably damaging	1.00
R4277:Ntn4	UTSW	10	93741210	missense	possibly damaging	0.95
R4805:Ntn4	UTSW	10	93644500	missense	probably damaging	0.99
R4806:Ntn4	UTSW	10	93644500	missense	probably damaging	0.99
R4807:Ntn4	UTSW	10	93644500	missense	probably damaging	0.99
R5818:Ntn4	UTSW	10	93644764	missense	probably benign	0.40
R6048:Ntn4	UTSW	10	93707266	splice site	probably null
R6051:Ntn4	UTSW	10	93745795	missense	probably benign
R6346:Ntn4	UTSW	10	93644861	missense	probably damaging	1.00
R6752:Ntn4	UTSW	10	93734175	missense	probably benign
R7196:Ntn4	UTSW	10	93733714	missense	probably benign	0.01
R7240:Ntn4	UTSW	10	93745741	missense	probably damaging	0.99
R7365:Ntn4	UTSW	10	93644804	missense	probably damaging	1.00
R7374:Ntn4	UTSW	10	93682572	missense	probably benign
R7505:Ntn4	UTSW	10	93707284	missense	probably damaging	1.00
R7509:Ntn4	UTSW	10	93710568	missense	probably benign	0.01
R7726:Ntn4	UTSW	10	93733682	missense	possibly damaging	0.82
R7957:Ntn4	UTSW	10	93644473	splice site	probably benign
R8092:Ntn4	UTSW	10	93741056	missense	probably damaging	0.97
R8202:Ntn4	UTSW	10	93644903	missense	possibly damaging	0.88
R8508:Ntn4	UTSW	10	93741104	missense	possibly damaging	0.48
RF045:Ntn4	UTSW	10	93710625	missense	possibly damaging	0.95
X0024:Ntn4	UTSW	10	93644971	missense	probably damaging	1.00
Z1176:Ntn4	UTSW	10	93741153	missense	probably damaging	1.00

Predicted Primers

Posted On

2015-02-05