Mutagenetix > Incidental Mutation

Incidental Mutation 'RF045:Ntn4'

605003

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 #

RF045 (G1)

Quality Score

196.009

Status

Not validated

Chromosome

Chromosomal Location

93476911-93581834 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 93546487 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 380 (R380L)

Ref Sequence

ENSEMBL: ENSMUSP00000020204 (fasta)

Gene Model

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

AlphaFold

Q9JI33

Predicted Effect

possibly damaging
Transcript: ENSMUST00000020204
AA Change: R380L

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000020204
Gene: ENSMUSG00000020019
AA Change: R380L

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

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.4%
20x: 98.7%

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: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AI837181	GCG	GCGCCG	19: 5,475,246 (GRCm39)		probably benign	Het
Arid1b	CGGGGG	CGGGGGGGG	17: 5,045,858 (GRCm39)		probably benign	Het
Cdsn	CAGC	CAGCAGCTCTCAGTCAGGAAGTAGC	17: 35,865,865 (GRCm39)		probably benign	Het
Cyb5r4	ATGT	ATGTGAGACACACTGCCCAGGGATGTGT	9: 86,922,455 (GRCm39)		probably null	Het
Cyb5r4	GA	GATGTGACAGACACACTGCCCAGGAA	9: 86,922,500 (GRCm39)		probably benign	Het
Cyp4a12b	C	T	4: 115,289,690 (GRCm39)	H186Y	probably benign	Het
Dbr1	AAGAGGA	AAGAGGAAGAGGA	9: 99,465,724 (GRCm39)		probably benign	Het
Dnmt1	ACAGTTCCTACCTCGTT	ACAGTTCCTACCTCGTTTTGGGCGCGGAGCCCAGTTCCTACCTCGTT	9: 20,821,425 (GRCm39)		probably null	Het
Dnmt1	TACCTCGTT	TACCTCGTTTTGGGGGCGGAGCACAGTTCCCACCTCGTT	9: 20,821,433 (GRCm39)		probably benign	Het
Ecrg4	TTCTGTA	T	1: 43,776,352 (GRCm39)		probably benign	Het
Gabre	CCGGCT	CCGGCTGCGGCT	X: 71,313,651 (GRCm39)		probably benign	Het
Gabre	CTCAGGCT	C	X: 71,313,787 (GRCm39)		probably null	Het
Garin5a	GGAGGA	GGAGGAAGGCTGGATCCTGGATACCTGGGTCTGAGTGAGGA	7: 44,149,956 (GRCm39)		probably null	Het
Iqcf4	TTCCTTTTCCTTTT	TTCCTTTTCCTTTTCCTTTTCCTTTTCCTTTTCCTTATCCTTTTCCTTTT	9: 106,447,809 (GRCm39)		probably benign	Het
Kcnq3	CCGCCAGCCGC	CC	15: 66,158,033 (GRCm39)		probably benign	Het
Krtap28-10	CCACAG	CCACAGTCACAG	1: 83,019,864 (GRCm39)		probably benign	Het
Krtap28-10	CACAGCCACCACAGCCACAGCCACCACAGC	CACAGCCACCACAGCAACAGCCACCACAGCCACAGCCACCACAGC	1: 83,019,982 (GRCm39)		probably benign	Het
Lce1m	TGCTGCC	TGCTGCCCCCGCCGCTGCC	3: 92,925,599 (GRCm39)		probably benign	Het
Map1a	CAGCTCCAGCTCCAGCTCC	CAGCTCCAGCTCCAGCTCCCGCTCCAGCTCTAGCTCCAGCTCCAGCTCC	2: 121,136,774 (GRCm39)		probably benign	Het
Ncapd2	ACT	ACTACACGCCGTCAGAGCACCGTGTTCTGTCACATCCT	6: 125,156,199 (GRCm39)		probably null	Het
Neu1	TCTTCTA	T	17: 35,151,534 (GRCm39)		probably benign	Het
Nusap1	A	ATACACGTTAGCAGTGAGGAGCAAGCTGAGG	2: 119,458,091 (GRCm39)		probably benign	Het
Plxnc1	C	T	10: 94,700,869 (GRCm39)	C605Y	probably damaging	Het
Ptms	CTCCTC	CTCCTCCTC	6: 124,891,413 (GRCm39)		probably benign	Het
Snx1	CTGTT	CTGTTGTT	9: 66,012,204 (GRCm39)		probably benign	Het
Strn	CCCAGTC	CCCAGTCCGTGCTCCCTTACCCCAGTCCGTGCTCCCTTACACCAGTC	17: 78,984,711 (GRCm39)		probably null	Het
Supt20	GCAGCA	GCAGCATCAGCA	3: 54,635,087 (GRCm39)		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
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
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
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'- TATTCTGACGTCTTGACCGTTG -3'
(R):5'- TGTGAACACTGGGCTATTTTGAC -3'

Sequencing Primer
(F):5'- ACGTCTTGACCGTTGGAGAAC -3'
(R):5'- CACTGGGCTATTTTGACTGAACAG -3'

Posted On

2019-12-04