Mutagenetix > Incidental Mutation

Incidental Mutation 'R9385:Ntn1'

710276

Institutional Source

Beutler Lab

Gene Symbol

Ntn1

Ensembl Gene

ENSMUSG00000020902

Gene Name

netrin 1

Synonyms

Netrin-1

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.735) question?

Stock #

R9385 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

68209364-68400823 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 68385187 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Cysteine at position 312 (G312C)

Ref Sequence

ENSEMBL: ENSMUSP00000021284 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021284] [ENSMUST00000108674] [ENSMUST00000135141]

AlphaFold

O09118

PDB Structure

X-ray Crystal Structure of Mouse Netrin-1 [X-RAY DIFFRACTION]

Predicted Effect

probably damaging
Transcript: ENSMUST00000021284
AA Change: G312C

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

SMART Domains

Protein: ENSMUSP00000021284
Gene: ENSMUSG00000020902
AA Change: G312C

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
LamNT	45	283	7.14e-148	SMART
EGF_Lam	285	338	2.44e-9	SMART
EGF_Lam	341	401	3.01e-9	SMART
EGF_Lam	404	451	8.43e-13	SMART
C345C	487	595	1.67e-37	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000108674
AA Change: G312C

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

SMART Domains

Protein: ENSMUSP00000104314
Gene: ENSMUSG00000020902
AA Change: G312C

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
LamNT	45	283	7.14e-148	SMART
EGF_Lam	285	338	2.44e-9	SMART
EGF_Lam	341	401	3.01e-9	SMART
EGF_Lam	404	451	8.43e-13	SMART
C345C	487	595	1.67e-37	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000135141

SMART Domains

Protein: ENSMUSP00000121193
Gene: ENSMUSG00000020902

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
LamNT	45	159	6.8e-15	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Netrin is included in a family of laminin-related secreted proteins. The function of this gene has not yet been defined; however, netrin is thought to be involved in axon guidance and cell migration during development. Mutations and loss of expression of netrin suggest that variation in netrin may be involved in cancer development. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted mutations exhibit impaired axonal migration, abnormal semicircular canals, lack of corpus callosum, aberrant commissures, hypoplasia of the optic nerve, motor and balance defects, failure to suckle, and neonatal death. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	T	C	12: 71,161,192 (GRCm38)	I554T	possibly damaging	Het
Adamts7	C	A	9: 90,195,205 (GRCm38)	C1308*	probably null	Het
Ank2	A	G	3: 126,959,717 (GRCm38)	V305A	probably benign	Het
Apob	A	G	12: 8,006,399 (GRCm38)	N1627S	possibly damaging	Het
Atp10a	A	T	7: 58,828,139 (GRCm38)	Q1310L	probably benign	Het
Atp8b4	A	T	2: 126,480,631 (GRCm38)	Y29*	probably null	Het
Card11	C	A	5: 140,885,521 (GRCm38)	R742S	probably benign	Het
Ccdc88a	A	G	11: 29,455,422 (GRCm38)	D365G	probably benign	Het
Ccdc88b	G	A	19: 6,856,165 (GRCm38)	R211W	probably benign	Het
Cda	T	G	4: 138,351,287 (GRCm38)	I55L	probably benign	Het
Cdkl3	A	C	11: 52,035,952 (GRCm38)	E577D	probably benign	Het
Cel	T	C	2: 28,560,575 (GRCm38)	D146G	probably damaging	Het
Cfap251	T	C	5: 123,288,815 (GRCm38)	L919S	probably damaging	Het
Cmya5	A	G	13: 93,094,372 (GRCm38)	S1403P	probably damaging	Het
Cntn2	G	A	1: 132,528,174 (GRCm38)	S202L	probably damaging	Het
Col15a1	C	T	4: 47,300,473 (GRCm38)	Q1045*	probably null	Het
Csmd1	T	C	8: 15,984,756 (GRCm38)	T2472A	probably benign	Het
Ctbp2	G	A	7: 132,999,340 (GRCm38)	R22C	probably benign	Het
Ddit4	A	G	10: 59,951,356 (GRCm38)	S53P	probably damaging	Het
Ddx52	G	T	11: 83,952,270 (GRCm38)	C365F	probably damaging	Het
Dnhd1	C	A	7: 105,712,765 (GRCm38)	L3677I	probably damaging	Het
Dscam	T	C	16: 97,039,003 (GRCm38)	T135A	probably benign	Het
Espl1	T	A	15: 102,298,750 (GRCm38)	D216E	probably damaging	Het
Fsip2	T	A	2: 82,989,449 (GRCm38)	D5175E	possibly damaging	Het
Fxr1	A	G	3: 34,019,971 (GRCm38)		probably benign	Het
Fyb1	A	G	15: 6,634,816 (GRCm38)	D460G	probably benign	Het
Gm3264	T	C	14: 4,871,178 (GRCm38)	I8T	possibly damaging	Het
Gsdmc	A	T	15: 63,803,637 (GRCm38)	Y110N	possibly damaging	Het
H13	A	G	2: 152,695,493 (GRCm38)	N286S	probably benign	Het
H2ac1	A	T	13: 23,934,696 (GRCm38)	I79F	probably damaging	Het
Heatr1	A	G	13: 12,406,542 (GRCm38)	D441G	probably damaging	Het
Hps6	A	G	19: 46,005,910 (GRCm38)	D762G	probably damaging	Het
Hyou1	C	A	9: 44,381,515 (GRCm38)	Q141K	probably benign	Het
Lpin3	T	C	2: 160,897,073 (GRCm38)	I267T	probably benign	Het
Mdc1	A	G	17: 35,850,504 (GRCm38)	K770E	probably benign	Het
Mlh3	C	T	12: 85,269,370 (GRCm38)	R14H	probably damaging	Het
Nfxl1	C	A	5: 72,537,407 (GRCm38)	V478F	probably benign	Het
Nhlrc3	A	G	3: 53,453,594 (GRCm38)	W247R	probably damaging	Het
Nlrc3	C	T	16: 3,964,012 (GRCm38)	G527D	probably damaging	Het
Nop9	A	G	14: 55,751,127 (GRCm38)	E342G	probably benign	Het
Opcml	T	C	9: 28,675,163 (GRCm38)	V59A	possibly damaging	Het
Opn1sw	T	G	6: 29,379,426 (GRCm38)	Y193S	probably damaging	Het
Or10ad1c	C	T	15: 98,187,605 (GRCm38)	S64N	probably damaging	Het
Or5p54	T	A	7: 107,955,573 (GRCm38)	*311K	probably null	Het
Pabpc4l	A	T	3: 46,446,702 (GRCm38)	V169E	probably damaging	Het
Pde3a	A	G	6: 141,492,256 (GRCm38)	D1017G	probably benign	Het
Plagl2	C	T	2: 153,232,318 (GRCm38)	C221Y	probably damaging	Het
Plppr4	G	T	3: 117,322,728 (GRCm38)	N493K	possibly damaging	Het
Plxna2	T	C	1: 194,749,416 (GRCm38)	V571A	possibly damaging	Het
Pnma2	A	G	14: 66,915,922 (GRCm38)		probably benign	Het
Rnf123	T	A	9: 108,052,268 (GRCm38)	E1234D	probably benign	Het
Sfi1	ACA	ACATCTTCCCAAAGCCAGTCA	11: 3,153,382 (GRCm38)		probably benign	Het
Slc22a23	T	C	13: 34,344,578 (GRCm38)	S74G	probably benign	Het
Slc36a4	T	C	9: 15,734,267 (GRCm38)	I330T	probably damaging	Het
Snrk	A	T	9: 122,166,397 (GRCm38)	D414V	probably benign	Het
Snrnp200	G	A	2: 127,238,058 (GRCm38)		probably null	Het
Spata31d1b	T	C	13: 59,715,589 (GRCm38)	S184P	probably damaging	Het
Tas2r140	A	T	6: 133,055,278 (GRCm38)	N172K	probably benign	Het
Tbc1d4	G	T	14: 101,462,920 (GRCm38)	Q858K	probably damaging	Het
Tex55	T	G	16: 38,828,045 (GRCm38)	D234A	probably benign	Het
Tial1	A	G	7: 128,442,485 (GRCm38)	C102R	unknown	Het
Ugt8a	A	T	3: 125,871,614 (GRCm38)	D411E	probably benign	Het
Usp34	A	G	11: 23,449,223 (GRCm38)	D2404G		Het
Vmn1r10	A	C	6: 57,113,848 (GRCm38)	I142L	probably benign	Het
Wdr97	A	G	15: 76,356,167 (GRCm38)	T352A		Het
Xpo7	A	T	14: 70,688,293 (GRCm38)	D435E	probably damaging	Het
Zmym1	A	G	4: 127,058,890 (GRCm38)	S33P	probably damaging	Het

Other mutations in Ntn1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00155:Ntn1	APN	11	68,226,619 (GRCm38)	splice site	probably benign
IGL00972:Ntn1	APN	11	68,213,272 (GRCm38)	missense	possibly damaging	0.83
IGL01695:Ntn1	APN	11	68,226,604 (GRCm38)	missense	probably benign	0.00
IGL01731:Ntn1	APN	11	68,385,418 (GRCm38)	missense	probably damaging	1.00
IGL02008:Ntn1	APN	11	68,213,263 (GRCm38)	missense	probably damaging	1.00
IGL02584:Ntn1	APN	11	68,277,530 (GRCm38)	missense	probably damaging	1.00
IGL02664:Ntn1	APN	11	68,385,469 (GRCm38)	missense	probably benign	0.06
R0363:Ntn1	UTSW	11	68,385,543 (GRCm38)	missense	probably benign	0.44
R1201:Ntn1	UTSW	11	68,213,226 (GRCm38)	missense	probably damaging	0.96
R1268:Ntn1	UTSW	11	68,213,133 (GRCm38)	small deletion	probably benign
R1913:Ntn1	UTSW	11	68,213,185 (GRCm38)	missense	probably damaging	1.00
R2245:Ntn1	UTSW	11	68,385,294 (GRCm38)	missense	probably benign	0.12
R2248:Ntn1	UTSW	11	68,277,572 (GRCm38)	missense	possibly damaging	0.95
R2359:Ntn1	UTSW	11	68,385,612 (GRCm38)	missense	probably damaging	1.00
R2862:Ntn1	UTSW	11	68,385,864 (GRCm38)	missense	probably benign	0.00
R3830:Ntn1	UTSW	11	68,385,793 (GRCm38)	missense	probably damaging	1.00
R3851:Ntn1	UTSW	11	68,385,793 (GRCm38)	missense	probably damaging	1.00
R3852:Ntn1	UTSW	11	68,385,793 (GRCm38)	missense	probably damaging	1.00
R4413:Ntn1	UTSW	11	68,385,910 (GRCm38)	missense	probably damaging	1.00
R4870:Ntn1	UTSW	11	68,213,026 (GRCm38)	small deletion	probably benign
R4871:Ntn1	UTSW	11	68,213,026 (GRCm38)	small deletion	probably benign
R4952:Ntn1	UTSW	11	68,213,026 (GRCm38)	small deletion	probably benign
R5001:Ntn1	UTSW	11	68,260,532 (GRCm38)	missense	probably damaging	1.00
R5279:Ntn1	UTSW	11	68,385,712 (GRCm38)	missense	probably benign	0.37
R6217:Ntn1	UTSW	11	68,213,332 (GRCm38)	missense	possibly damaging	0.91
R6505:Ntn1	UTSW	11	68,213,199 (GRCm38)	missense	probably damaging	1.00
R6669:Ntn1	UTSW	11	68,385,750 (GRCm38)	missense	probably benign	0.00
R7172:Ntn1	UTSW	11	68,385,667 (GRCm38)	missense	probably damaging	1.00
R7411:Ntn1	UTSW	11	68,386,089 (GRCm38)	missense	probably benign	0.15
R8314:Ntn1	UTSW	11	68,385,624 (GRCm38)	missense	probably damaging	1.00
R9216:Ntn1	UTSW	11	68,226,571 (GRCm38)	missense	possibly damaging	0.76
R9442:Ntn1	UTSW	11	68,257,659 (GRCm38)	intron	probably benign
R9697:Ntn1	UTSW	11	68,277,530 (GRCm38)	missense	probably damaging	1.00
R9752:Ntn1	UTSW	11	68,385,886 (GRCm38)	missense	possibly damaging	0.80
X0027:Ntn1	UTSW	11	68,385,636 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTAAGGTCTCCGAAACCCACTATC -3'
(R):5'- TGATCGCTTTCAGCACGCTG -3'

Sequencing Primer
(F):5'- ACTATCCCGCGATGCTCG -3'
(R):5'- ACATCCGCGTGGCTTTCAG -3'

Posted On

2022-04-18