Mutagenetix > Incidental Mutation

Incidental Mutation 'R3851:Ntn1'

275931

Institutional Source

Beutler Lab

Gene Symbol

Ntn1

Ensembl Gene

ENSMUSG00000020902

Gene Name

netrin 1

Synonyms

Netrin-1

MMRRC Submission

040899-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.721) question?

Stock #

R3851 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

68209364-68400823 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 68385793 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Histidine at position 110 (D110H)

Ref Sequence

ENSEMBL: ENSMUSP00000121193 (fasta)

Gene Model

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

AlphaFold

O09118

Predicted Effect

probably damaging
Transcript: ENSMUST00000021284
AA Change: D110H

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

SMART Domains

Protein: ENSMUSP00000021284
Gene: ENSMUSG00000020902
AA Change: D110H

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: D110H

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

SMART Domains

Protein: ENSMUSP00000104314
Gene: ENSMUSG00000020902
AA Change: D110H

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: ENSMUST00000135141
AA Change: D110H

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

SMART Domains

Protein: ENSMUSP00000121193
Gene: ENSMUSG00000020902
AA Change: D110H

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

Meta Mutation Damage Score

0.9089

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

100% (36/36)

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arap1	G	A	7: 101,390,165	W544*	probably null	Het
AY358078	A	G	14: 51,805,553	T233A	unknown	Het
Bcl9	G	A	3: 97,209,653	P575L	probably damaging	Het
Calcr	T	C	6: 3,693,735	Y353C	probably damaging	Het
Cry1	C	A	10: 85,146,499	A328S	probably benign	Het
Dclre1a	A	T	19: 56,541,507	N799K	probably damaging	Het
Dnm3	A	T	1: 162,321,127		probably null	Het
Dock9	A	T	14: 121,629,086		probably null	Het
Dpysl4	C	T	7: 139,100,935	T575M	probably damaging	Het
Drc7	C	T	8: 95,061,836	Q276*	probably null	Het
Dzip3	T	C	16: 48,950,013	T389A	possibly damaging	Het
Fam196a	A	G	7: 134,884,526	V432A	probably benign	Het
Flnc	T	A	6: 29,453,719	L1801Q	probably damaging	Het
Fmo9	A	G	1: 166,663,367	L463P	probably benign	Het
Fnip2	G	C	3: 79,462,157	H1074D	probably damaging	Het
Golga2	A	G	2: 32,305,611	E806G	probably benign	Het
H2-Q5	T	A	17: 35,394,139	M5K	unknown	Het
Il27ra	C	T	8: 84,040,688	E169K	probably benign	Het
Itpkc	A	T	7: 27,227,612	N292K	probably benign	Het
Lhfpl3	G	A	5: 22,775,987		probably benign	Het
Map4k3	A	G	17: 80,644,323		probably benign	Het
Mas1	C	G	17: 12,841,993	S181T	probably benign	Het
Nubpl	T	C	12: 52,144,027	M65T	probably damaging	Het
Olfr813	A	C	10: 129,857,147	M210L	probably benign	Het
Parp14	A	G	16: 35,853,748	I1042T	possibly damaging	Het
Pcdh15	C	A	10: 74,631,686	S1779Y	probably damaging	Het
Pgm5	C	T	19: 24,820,203	R205Q	probably damaging	Het
Radil	T	C	5: 142,506,997	D292G	probably damaging	Het
Rbp3	C	A	14: 33,955,507	H471N	probably damaging	Het
Rgs14	T	A	13: 55,379,614	L221Q	possibly damaging	Het
Rrm2	G	T	12: 24,708,599	A47S	probably benign	Het
Shroom3	G	T	5: 92,943,086	V1151F	probably damaging	Het
Slco4a1	C	T	2: 180,464,091	T22M	probably benign	Het
Sult2b1	G	T	7: 45,730,037		probably benign	Het
Tmem59l	A	G	8: 70,487,301	L6S	unknown	Het
Ttn	G	T	2: 76,751,334	L23072I	possibly damaging	Het
Zfp521	T	C	18: 13,717,751		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
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
R9752:Ntn1	UTSW	11	68385886	missense	possibly damaging	0.80
X0027:Ntn1	UTSW	11	68385636	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCGGTTGTACATTTTGCGGC -3'
(R):5'- ACTTTGTCAACGCGGCCTTC -3'

Sequencing Primer
(F):5'- ACATTTTGCGGCACTGCG -3'
(R):5'- TTCGGCAAGGACGTGCG -3'

Posted On

2015-04-06