Mutagenetix > Incidental Mutation

Incidental Mutation 'R9752:Ntn1'

732590

Institutional Source

Beutler Lab

Gene Symbol

Ntn1

Ensembl Gene

ENSMUSG00000020902

Gene Name

netrin 1

Synonyms

Netrin-1

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.732) question?

Stock #

R9752 (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 T at 68385886 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 79 (V79M)

Ref Sequence

ENSEMBL: ENSMUSP00000121193 (fasta)

Gene Model

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

AlphaFold

O09118

Predicted Effect

possibly damaging
Transcript: ENSMUST00000021284
AA Change: V79M

PolyPhen 2 Score 0.797 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000021284
Gene: ENSMUSG00000020902
AA Change: V79M

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

possibly damaging
Transcript: ENSMUST00000108674
AA Change: V79M

PolyPhen 2 Score 0.797 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000104314
Gene: ENSMUSG00000020902
AA Change: V79M

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

possibly damaging
Transcript: ENSMUST00000135141
AA Change: V79M

PolyPhen 2 Score 0.797 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000121193
Gene: ENSMUSG00000020902
AA Change: V79M

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

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 99.3%
20x: 98.4%

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810474O19Rik	T	A	6: 149,326,570	N371K	probably benign	Het
Ano2	C	T	6: 125,863,536	T390I	probably damaging	Het
Cc2d2b	T	C	19: 40,792,827	V772A	probably damaging	Het
Cd109	A	G	9: 78,707,552	I1294V	probably benign	Het
Cic	A	G	7: 25,271,978	E378G	probably damaging	Het
Clhc1	C	T	11: 29,557,778	P175L	probably benign	Het
Clip1	T	C	5: 123,621,946	E783G	probably damaging	Het
Cnot1	A	G	8: 95,761,391	Y546H	probably damaging	Het
Cog7	C	A	7: 121,981,416		probably null	Het
Cr2	T	C	1: 195,141,267	T1008A	probably benign	Het
Diaph1	T	C	18: 37,903,071	T196A	unknown	Het
Flg2	A	T	3: 93,201,160	D165V	probably damaging	Het
Fstl1	T	G	16: 37,829,172	N249K	probably damaging	Het
Gatad2a	A	G	8: 69,912,189	V515A	probably benign	Het
Gbp2b	A	T	3: 142,608,156	D399V	probably benign	Het
Gna14	G	A	19: 16,609,417	V319I	probably benign	Het
Grip1	A	G	10: 120,035,351	D661G	possibly damaging	Het
Gtf3c4	C	A	2: 28,834,114	L535F	probably damaging	Het
Haus8	A	C	8: 71,263,087	S36A	probably damaging	Het
Hectd4	A	T	5: 121,310,681	Y364F	probably benign	Het
Hectd4	C	T	5: 121,334,352	A2717V	possibly damaging	Het
Hsf5	C	T	11: 87,622,883	T258M	probably benign	Het
Ifi209	A	T	1: 173,644,669	I359F	probably damaging	Het
Ighmbp2	A	G	19: 3,274,360	V302A	probably benign	Het
Iqgap3	C	A	3: 88,108,869	F986L	probably damaging	Het
Itgav	T	A	2: 83,770,107		probably null	Het
Kcp	A	T	6: 29,497,755	D502E	probably damaging	Het
Kif15	T	C	9: 122,995,825		probably null	Het
Lipo2	C	G	19: 33,745,821	K189N	possibly damaging	Het
Lrch4	T	A	5: 137,637,956	S390T	probably benign	Het
Mast2	G	T	4: 116,322,311	H389N	probably benign	Het
Med13	A	G	11: 86,283,321	Y1784H	possibly damaging	Het
Micu3	A	G	8: 40,380,710	K462E	possibly damaging	Het
Mrps10	T	C	17: 47,372,647		probably null	Het
Msh6	T	C	17: 87,986,535	L906P	probably damaging	Het
Nphp4	A	G	4: 152,537,280	E531G	probably benign	Het
Nrp2	A	T	1: 62,812,567	Y825F	probably benign	Het
Nxnl2	A	G	13: 51,171,471	D50G	probably damaging	Het
Olfr1	T	A	11: 73,395,653	Y123F	possibly damaging	Het
Olfr1395	T	C	11: 49,148,854	M199T	probably benign	Het
Olfr584	T	A	7: 103,086,462	C310S	probably benign	Het
Olfr651	A	T	7: 104,553,323	I135F	possibly damaging	Het
Olfr818	T	C	10: 129,945,121	R314G	probably benign	Het
Olfr872	G	A	9: 20,259,908	V23I	probably benign	Het
Ppp1r42	A	G	1: 10,003,449		probably benign	Het
Ppp4r3a	A	T	12: 101,042,504	N692K	probably benign	Het
Prr11	T	C	11: 87,103,590	T77A	possibly damaging	Het
Rrn3	A	G	16: 13,813,231	I644V	probably benign	Het
Scd4	T	C	19: 44,334,036	S23P	probably benign	Het
Sdccag3	T	C	2: 26,386,978	N247D	probably benign	Het
Slc26a2	T	A	18: 61,201,938	S148C	probably benign	Het
Slc7a8	T	C	14: 54,758,474	E157G	probably benign	Het
Spi1	A	G	2: 91,113,321	H70R	probably benign	Het
Styk1	CTCTTCATGATTTTCTT	CTCTT	6: 131,301,649		probably benign	Het
Tlr4	A	G	4: 66,839,675	N235S	probably benign	Het
Trpc6	C	A	9: 8,643,640	S475R	probably benign	Het
Usp34	C	T	11: 23,459,182	P2674L	probably benign	Het
Usp48	G	A	4: 137,613,826	G379D	probably damaging	Het
Vkorc1l1	T	A	5: 129,982,237	C97*	probably null	Het
Wfikkn2	T	C	11: 94,238,385	E310G	probably benign	Het
Zfp266	T	A	9: 20,500,200	N227I	probably benign	Het
Zfp335	C	T	2: 164,907,427		probably null	Het
Zfp677	T	A	17: 21,398,249	C523S	probably damaging	Het
Zrsr2	GCTCCTCCTCCTCCTCCT	GCTCCTCCTCCTCCT	X: 163,936,754		probably benign	Het

Other mutations in Ntn1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00155:Ntn1	APN	11	68226619	splice site	probably benign
IGL00972:Ntn1	APN	11	68213272	missense	possibly damaging	0.83
IGL01695:Ntn1	APN	11	68226604	missense	probably benign	0.00
IGL01731:Ntn1	APN	11	68385418	missense	probably damaging	1.00
IGL02008:Ntn1	APN	11	68213263	missense	probably damaging	1.00
IGL02584:Ntn1	APN	11	68277530	missense	probably damaging	1.00
IGL02664:Ntn1	APN	11	68385469	missense	probably benign	0.06
R0363:Ntn1	UTSW	11	68385543	missense	probably benign	0.44
R1201:Ntn1	UTSW	11	68213226	missense	probably damaging	0.96
R1268:Ntn1	UTSW	11	68213133	small deletion	probably benign
R1913:Ntn1	UTSW	11	68213185	missense	probably damaging	1.00
R2245:Ntn1	UTSW	11	68385294	missense	probably benign	0.12
R2248:Ntn1	UTSW	11	68277572	missense	possibly damaging	0.95
R2359:Ntn1	UTSW	11	68385612	missense	probably damaging	1.00
R2862:Ntn1	UTSW	11	68385864	missense	probably benign	0.00
R3830:Ntn1	UTSW	11	68385793	missense	probably damaging	1.00
R3851:Ntn1	UTSW	11	68385793	missense	probably damaging	1.00
R3852:Ntn1	UTSW	11	68385793	missense	probably damaging	1.00
R4413:Ntn1	UTSW	11	68385910	missense	probably damaging	1.00
R4870:Ntn1	UTSW	11	68213026	small deletion	probably benign
R4871:Ntn1	UTSW	11	68213026	small deletion	probably benign
R4952:Ntn1	UTSW	11	68213026	small deletion	probably benign
R5001:Ntn1	UTSW	11	68260532	missense	probably damaging	1.00
R5279:Ntn1	UTSW	11	68385712	missense	probably benign	0.37
R6217:Ntn1	UTSW	11	68213332	missense	possibly damaging	0.91
R6505:Ntn1	UTSW	11	68213199	missense	probably damaging	1.00
R6669:Ntn1	UTSW	11	68385750	missense	probably benign	0.00
R7172:Ntn1	UTSW	11	68385667	missense	probably damaging	1.00
R7411:Ntn1	UTSW	11	68386089	missense	probably benign	0.15
R8314:Ntn1	UTSW	11	68385624	missense	probably damaging	1.00
R9216:Ntn1	UTSW	11	68226571	missense	possibly damaging	0.76
R9385:Ntn1	UTSW	11	68385187	missense	probably damaging	1.00
R9442:Ntn1	UTSW	11	68257659	intron	probably benign
R9697:Ntn1	UTSW	11	68277530	missense	probably damaging	1.00
X0027:Ntn1	UTSW	11	68385636	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCAAACTTCTTGCCGAGCGAC -3'
(R):5'- TTCAGGTTTGGAAGCCCCTG -3'

Sequencing Primer
(F):5'- TTCTTGCCGAGCGACAGAGTG -3'
(R):5'- TGGCCACAGCATGATGC -3'

Posted On

2022-11-14