Mutagenetix > Incidental Mutation

Incidental Mutation 'R7365:Ntn4'

571728

Institutional Source

Beutler Lab

Gene Symbol

Ntn4

Ensembl Gene

ENSMUSG00000020019

Gene Name

netrin 4

Synonyms

beta-netrin

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7365 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

93640681-93747207 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 93644804 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 130 (L130P)

Ref Sequence

ENSEMBL: ENSMUSP00000020204 (fasta)

Gene Model

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

AlphaFold

Q9JI33

Predicted Effect

probably damaging
Transcript: ENSMUST00000020204
AA Change: L130P

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000020204
Gene: ENSMUSG00000020019
AA Change: L130P

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: L93P

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000123306
Gene: ENSMUSG00000020019
AA Change: L93P

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (96/96)

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: 96 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700123K08Rik	T	C	5: 138,562,936	S155G	probably benign	Het
Abcc4	T	C	14: 118,627,654	N320S	probably damaging	Het
Akr1c19	G	A	13: 4,237,070	R96H	probably benign	Het
Ankrd17	T	C	5: 90,291,151	D451G	possibly damaging	Het
Ano8	T	A	8: 71,485,110	D36V	probably damaging	Het
Aqp3	A	G	4: 41,098,003	V36A	probably benign	Het
Atf7ip	A	G	6: 136,560,710	T314A	probably benign	Het
Atp2c1	A	T	9: 105,422,999	D700E	probably damaging	Het
Axin2	G	A	11: 108,939,376	V341M	possibly damaging	Het
Bin3	A	G	14: 70,134,527	Q139R	probably damaging	Het
Brca2	A	G	5: 150,532,337	D181G	probably damaging	Het
C330027C09Rik	T	A	16: 49,001,653	S215T	probably benign	Het
Capn3	A	G	2: 120,494,814	E466G	probably damaging	Het
Ccdc14	T	A	16: 34,723,619	Y830*	probably null	Het
Cdk12	T	C	11: 98,221,084	F723L	unknown	Het
Cep89	G	A	7: 35,429,928	R630H	probably damaging	Het
Clca2	T	A	3: 145,098,784	I61F	probably damaging	Het
Clca4b	T	C	3: 144,922,768	T393A	not run	Het
Cldn5	G	A	16: 18,777,095	A34T	probably damaging	Het
Cobll1	A	T	2: 65,098,373	S870T	probably damaging	Het
Col12a1	T	C	9: 79,706,360	K68E	probably damaging	Het
Crnn	A	T	3: 93,148,534	Q209L	probably damaging	Het
Cwf19l1	A	T	19: 44,132,140	F45I	probably damaging	Het
Cyfip2	T	A	11: 46,207,440	K1052*	probably null	Het
D930020B18Rik	G	A	10: 121,667,811		probably null	Het
Dcc	G	A	18: 71,826,123	P193S	probably damaging	Het
Dda1	T	A	8: 71,474,493	C48S	probably benign	Het
Disc1	A	G	8: 125,155,041	R572G	probably damaging	Het
Dnah7a	A	T	1: 53,497,138	M2582K	probably benign	Het
Dsel	C	T	1: 111,861,573	G411S	probably damaging	Het
Dynlrb2	T	C	8: 116,514,957	V80A	probably benign	Het
Eif3a	A	T	19: 60,766,644	D1033E	unknown	Het
Enam	C	A	5: 88,501,488	H285Q	possibly damaging	Het
Ep400	T	C	5: 110,719,614	D980G	unknown	Het
Epha7	C	T	4: 28,871,937	S422L	probably benign	Het
Erc2	A	C	14: 28,040,389	D703A	probably damaging	Het
Ezh2	G	T	6: 47,533,758	S639*	probably null	Het
Fbn1	G	A	2: 125,352,049	H1333Y	probably damaging	Het
Flad1	A	G	3: 89,408,665	S197P	possibly damaging	Het
Gfm2	G	T	13: 97,143,021	C26F	probably benign	Het
Gm5294	A	G	5: 138,820,981	H82R	probably damaging	Het
Gm597	A	T	1: 28,780,152	M16K	probably benign	Het
Golga2	C	T	2: 32,303,001	Q444*	probably null	Het
Gp5	A	T	16: 30,308,608	V416D	probably damaging	Het
Gpat2	A	G	2: 127,426,981		probably null	Het
Gpr137c	A	G	14: 45,279,014	D353G	probably damaging	Het
Hoxa13	A	C	6: 52,259,882	W133G	probably damaging	Het
Hydin	A	T	8: 110,557,662	I3189F	probably damaging	Het
Hydin	A	T	8: 110,601,273	K4804M	probably damaging	Het
Ice2	T	C	9: 69,400,512	F26S	probably damaging	Het
Ints11	T	C	4: 155,872,230		probably null	Het
Ipo5	A	G	14: 120,920,085	I112V	probably benign	Het
Itgax	T	A	7: 128,135,309	S346R	probably damaging	Het
Kcnj13	T	A	1: 87,389,017	M125L	probably damaging	Het
Lmbrd1	T	A	1: 24,744,867	V359E	possibly damaging	Het
Lrrc7	T	G	3: 158,198,161	K287N	probably damaging	Het
Mau2	C	T	8: 70,029,234	A191T	possibly damaging	Het
Mkx	C	A	18: 7,000,747	R65L	possibly damaging	Het
Mroh4	T	A	15: 74,610,371	K746*	probably null	Het
Myh4	A	G	11: 67,242,848	T238A	probably damaging	Het
Nlrp9c	T	A	7: 26,371,397	N920Y	possibly damaging	Het
Nr4a3	T	G	4: 48,051,290	S15A	possibly damaging	Het
Olfr1240	A	G	2: 89,440,198	V27A	probably benign	Het
Olfr1312	A	T	2: 112,043,014	V6E	possibly damaging	Het
Olfr682-ps1	T	A	7: 105,128,345	I21F	probably benign	Het
Olfr695	A	G	7: 106,713,964	V239A	probably benign	Het
Olfr930	A	T	9: 38,930,776	I202F	probably damaging	Het
Otog	T	C	7: 46,298,308	L110P	probably damaging	Het
Platr25	G	A	13: 62,700,905	H48Y	probably benign	Het
Plcxd2	T	C	16: 45,980,426	E145G	probably damaging	Het
Pltp	A	T	2: 164,854,322	N143K	probably damaging	Het
Pnpt1	T	C	11: 29,161,334	Y735H	probably damaging	Het
Prom1	A	G	5: 44,020,831	Y520H	probably damaging	Het
Rag2	A	G	2: 101,630,773	Y476C	probably damaging	Het
Rdh16f2	A	G	10: 127,877,024	Y297C	probably damaging	Het
Ryr1	T	C	7: 29,085,755	E1844G	probably benign	Het
Ryr2	A	G	13: 11,640,275	C3679R	probably damaging	Het
Sirt1	A	G	10: 63,322,003	I544T	probably benign	Het
Slc26a10	A	T	10: 127,176,847	I382N	possibly damaging	Het
Sox2	C	A	3: 34,650,972	P186Q	possibly damaging	Het
Tnpo3	A	G	6: 29,556,996	L752P	probably damaging	Het
Top2b	T	A	14: 16,416,649	N1136K	probably benign	Het
Tpsg1	G	T	17: 25,373,210	G86V	probably damaging	Het
Ttf2	C	A	3: 100,963,302	D152Y	possibly damaging	Het
Txndc15	T	C	13: 55,714,788	L4P	unknown	Het
Unc5a	T	C	13: 54,996,573	V237A	possibly damaging	Het
Urb1	CACTTAC	CAC	16: 90,772,573		probably benign	Het
Vav3	C	A	3: 109,628,099	P616T	possibly damaging	Het
Vmn2r15	T	A	5: 109,293,239	D251V	probably benign	Het
Vmn2r15	A	G	5: 109,297,522	L12S	probably benign	Het
Wfs1	A	C	5: 36,967,732	I605S	probably benign	Het
Wif1	G	A	10: 121,083,909	R187Q	possibly damaging	Het
Yipf1	A	G	4: 107,350,541		probably null	Het
Zdhhc20	G	T	14: 57,873,920	F74L	possibly damaging	Het
Zfp507	T	C	7: 35,776,418	T303A	unknown	Het
Zfp763	A	T	17: 33,033,378		probably benign	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
R1926: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
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
R9010:Ntn4	UTSW	10	93644644	missense
R9115:Ntn4	UTSW	10	93733813	missense	probably benign
R9415:Ntn4	UTSW	10	93644626	missense	probably benign	0.00
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

PCR Primer
(F):5'- AATGCTGACCTCACTTGCCG -3'
(R):5'- GTTAAACACGTGCTCTTACCTC -3'

Sequencing Primer
(F):5'- CGGCAGCCCAAGTGTGATAAATG -3'
(R):5'- TGCACGGGAAAGGATTTGAGTATC -3'

Posted On

2019-09-13