Mutagenetix > Incidental Mutation

Incidental Mutation 'R8314:Ntn1'

641579

Institutional Source

Beutler Lab

Gene Symbol

Ntn1

Ensembl Gene

ENSMUSG00000020902

Gene Name

netrin 1

Synonyms

Netrin-1

MMRRC Submission

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.721) question?

Stock #

R8314 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

68209364-68400823 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 68385624 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 166 (D166G)

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: D166G

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

SMART Domains

Protein: ENSMUSP00000021284
Gene: ENSMUSG00000020902
AA Change: D166G

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: D166G

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

SMART Domains

Protein: ENSMUSP00000104314
Gene: ENSMUSG00000020902
AA Change: D166G

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: 99.6%
20x: 98.9%

Validation Efficiency

100% (67/67)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110059G10Rik	T	A	9: 122,948,928	T84S	probably benign	Het
4921501E09Rik	C	A	17: 33,067,064	A255S	probably benign	Het
4930533K18Rik	A	G	10: 70,875,276	T76A	noncoding transcript	Het
Adgrl1	C	T	8: 83,938,389	T1235I	probably damaging	Het
Ak4	C	T	4: 101,463,585	T197M	possibly damaging	Het
Alkal2	G	T	12: 30,884,851	G23V	probably damaging	Het
Alox12e	T	C	11: 70,316,172	M603V	possibly damaging	Het
Ap3d1	A	T	10: 80,723,539	I267N	possibly damaging	Het
Arhgef2	T	A	3: 88,621,293	I12N	probably benign	Het
Asnsd1	A	T	1: 53,346,655	M520K	probably damaging	Het
B3galt5	T	C	16: 96,315,449	L94P	probably damaging	Het
Birc3	T	C	9: 7,872,941		probably benign	Het
Cd177	T	C	7: 24,750,588	S541G	probably benign	Het
Cdh8	T	C	8: 99,171,379	D434G	probably damaging	Het
Cdkn3	A	T	14: 46,769,873		silent	Het
Ciita	A	T	16: 10,510,988	R379W	probably damaging	Het
Cntrl	T	A	2: 35,175,143	M2153K	probably benign	Het
Csmd1	A	T	8: 16,158,244	D1232E	probably benign	Het
Cyp4a30b	A	C	4: 115,458,338	H252P	probably benign	Het
Dad1	G	A	14: 54,253,812	R11W	probably damaging	Het
Ddit3	A	G	10: 127,295,721		probably null	Het
Dusp22	G	A	13: 30,708,931		probably benign	Het
Dzank1	A	G	2: 144,502,958	L293P	probably damaging	Het
Edf1	A	G	2: 25,557,965	D5G	probably damaging	Het
Ep400	T	A	5: 110,755,753	M327L	unknown	Het
Fam135a	A	T	1: 24,021,921	H1341Q	possibly damaging	Het
Fam189b	T	C	3: 89,188,146		probably null	Het
Fbxl3	C	T	14: 103,089,440	V169I	probably benign	Het
Gm4787	A	G	12: 81,379,135	L83P	probably damaging	Het
Habp4	A	G	13: 64,184,751	E392G	probably damaging	Het
Hspg2	C	A	4: 137,539,675	P1997Q	probably benign	Het
Ints9	T	C	14: 65,029,030	S444P	probably damaging	Het
Kif18b	G	A	11: 102,913,074	S420L	probably benign	Het
Klhl17	T	A	4: 156,234,013	M51L	probably benign	Het
Kmt2b	C	T	7: 30,578,922	E1555K	probably damaging	Het
Malrd1	T	A	2: 15,752,832	D972E	unknown	Het
Mapk8ip3	A	T	17: 24,901,774	S805R	probably benign	Het
Mmp13	G	A	9: 7,272,931	C97Y	probably damaging	Het
Moxd1	T	A	10: 24,252,540	N163K	possibly damaging	Het
Nbea	T	C	3: 56,009,251	I863V	probably damaging	Het
Nectin4	A	G	1: 171,384,727	T298A	probably benign	Het
Net1	T	C	13: 3,912,672		probably benign	Het
Olfr1137	A	G	2: 87,711,202	F235L	probably benign	Het
Olfr140	T	C	2: 90,052,097	T76A	probably benign	Het
Olfr391-ps	T	G	11: 73,799,742	N5T	noncoding transcript	Het
Olfr620	T	C	7: 103,612,047	Q102R	probably damaging	Het
Olfr948	A	G	9: 39,319,305	F103S	probably damaging	Het
Opa3	C	A	7: 19,245,015	A135E	possibly damaging	Het
Osbpl5	T	C	7: 143,695,096	I608V	probably benign	Het
Phc1	A	C	6: 122,320,978	S782R	unknown	Het
Pip5k1b	T	A	19: 24,355,199	T374S	probably benign	Het
Prkaa1	A	G	15: 5,178,873	S541G	probably damaging	Het
Ptpn20	A	G	14: 33,622,547	N143D	possibly damaging	Het
Rabep1	A	G	11: 70,893,660	D207G	possibly damaging	Het
Rbbp8	G	A	18: 11,720,625	M296I	probably benign	Het
Recql4	C	A	15: 76,710,180	R46L	probably damaging	Het
Scgb2b18	T	C	7: 33,173,157	I74M	probably benign	Het
Shc4	A	G	2: 125,655,616	I391T	possibly damaging	Het
Slc38a4	A	G	15: 97,010,309	F184L	probably benign	Het
Slc7a6	A	G	8: 106,168,958		probably benign	Het
Smim13	G	T	13: 41,272,634	G49*	probably null	Het
Tbc1d19	A	G	5: 53,897,047	D459G	probably damaging	Het
Tnpo1	T	C	13: 98,884,625	N82S	possibly damaging	Het
Tpp2	G	A	1: 43,934,227	V47I	probably benign	Het
Umodl1	G	T	17: 30,984,832	A540S	probably damaging	Het
Vmn2r83	G	A	10: 79,481,479	V519I	possibly damaging	Het
Zfp641	T	C	15: 98,290,583	I139V	probably damaging	Het
Zfyve21	A	T	12: 111,823,281	I60F	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
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'- TAGTAATAGGAGTCGCGCGC -3'
(R):5'- CTTCGGATCCCAAGAAAGCG -3'

Sequencing Primer
(F):5'- TGAAAGCCACGCGGATGTC -3'
(R):5'- GATCCCAAGAAAGCGCACCC -3'

Posted On

2020-07-28