Mutagenetix > Incidental Mutation

Incidental Mutation 'R7411:Ntn1'

575096

Institutional Source

Beutler Lab

Gene Symbol

Ntn1

Ensembl Gene

ENSMUSG00000020902

Gene Name

netrin 1

Synonyms

Netrin-1

MMRRC Submission

045492-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.735) question?

Stock #

R7411 (G1)

Quality Score

216.009

Status

Not validated

Chromosome

Chromosomal Location

68209364-68400823 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 68386089 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 11 (A11V)

Ref Sequence

ENSEMBL: ENSMUSP00000121193 (fasta)

Gene Model

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

AlphaFold

O09118

Predicted Effect

probably benign
Transcript: ENSMUST00000021284
AA Change: A11V

PolyPhen 2 Score 0.150 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000021284
Gene: ENSMUSG00000020902
AA Change: A11V

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: ENSMUST00000108674
AA Change: A11V

PolyPhen 2 Score 0.150 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000104314
Gene: ENSMUSG00000020902
AA Change: A11V

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
AA Change: A11V

PolyPhen 2 Score 0.150 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000121193
Gene: ENSMUSG00000020902
AA Change: A11V

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: 100.0%
10x: 99.7%
20x: 99.1%

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810055G02Rik	C	T	19: 3,717,241 (GRCm38)	T276I	possibly damaging	Het
9130011E15Rik	A	C	19: 45,965,435 (GRCm38)	V170G	probably benign	Het
Abca17	A	G	17: 24,328,569 (GRCm38)	I277T	possibly damaging	Het
Abcb11	C	T	2: 69,303,936 (GRCm38)		probably null	Het
Abcc12	C	A	8: 86,560,850 (GRCm38)	R122L	possibly damaging	Het
Abcc8	A	G	7: 46,165,917 (GRCm38)		probably null	Het
Adam28	C	T	14: 68,626,947 (GRCm38)	R469K	probably damaging	Het
Adamts18	T	C	8: 113,777,730 (GRCm38)	Y243C	probably damaging	Het
Agbl3	T	C	6: 34,814,819 (GRCm38)	S619P	probably damaging	Het
Alpk3	A	T	7: 81,092,852 (GRCm38)	T806S	probably benign	Het
Atoh1	T	A	6: 64,729,930 (GRCm38)	I203N	probably damaging	Het
Cables1	A	G	18: 11,840,515 (GRCm38)	E237G	probably benign	Het
Cacna1d	A	G	14: 30,352,990 (GRCm38)	M1T	probably null	Het
Ccdc91	C	T	6: 147,592,198 (GRCm38)	Q363*	probably null	Het
Ceacam5	T	A	7: 17,750,753 (GRCm38)	D473E	probably damaging	Het
Cfap54	T	A	10: 92,868,755 (GRCm38)	D2821V	unknown	Het
Clca3a2	A	G	3: 144,802,099 (GRCm38)	S737P	probably damaging	Het
Clec4n	T	A	6: 123,232,186 (GRCm38)	M70K	probably benign	Het
Dstyk	G	A	1: 132,417,666 (GRCm38)	G21S	probably benign	Het
Enpp5	A	G	17: 44,081,475 (GRCm38)	D265G	probably damaging	Het
Gabrb1	T	C	5: 72,122,195 (GRCm38)		probably null	Het
Gm11639	T	G	11: 104,999,723 (GRCm38)	N4210K	probably benign	Het
Gm28710	A	T	5: 16,824,765 (GRCm38)	T500S	possibly damaging	Het
Gm40460	CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 142,240,817 (GRCm38)		probably benign	Het
Gm5861	T	A	5: 11,183,149 (GRCm38)		probably null	Het
Gm9513	T	C	9: 36,475,684 (GRCm38)	V16A	possibly damaging	Het
Guk1	A	G	11: 59,185,985 (GRCm38)	F91L		Het
Ints1	C	T	5: 139,764,260 (GRCm38)	E961K	possibly damaging	Het
Irx2	T	A	13: 72,629,063 (GRCm38)	M1K	probably null	Het
Jrk	C	T	15: 74,707,199 (GRCm38)	R79H	possibly damaging	Het
Kcnu1	G	T	8: 25,892,088 (GRCm38)	V489L	probably damaging	Het
Kctd7	C	T	5: 130,152,424 (GRCm38)	T209M	probably benign	Het
Kdm5a	T	A	6: 120,426,815 (GRCm38)	V1127E	probably damaging	Het
Klk6	A	G	7: 43,826,943 (GRCm38)	H69R	probably damaging	Het
Lck	T	C	4: 129,551,970 (GRCm38)	K340R	probably benign	Het
Lrrc75a	A	G	11: 62,605,908 (GRCm38)	L276P	probably damaging	Het
Med25	A	G	7: 44,878,243 (GRCm38)	W730R	probably damaging	Het
Muc4	T	C	16: 32,751,322 (GRCm38)	V400A	probably benign	Het
Myl10	G	C	5: 136,697,971 (GRCm38)	V70L	probably benign	Het
Myt1	C	A	2: 181,815,106 (GRCm38)	H906Q	probably damaging	Het
Ncl	A	T	1: 86,350,842 (GRCm38)	F673I	probably damaging	Het
Nfe2l1	G	T	11: 96,822,183 (GRCm38)	T216N	probably benign	Het
Nos2	G	A	11: 78,944,855 (GRCm38)		probably null	Het
Nphp4	T	A	4: 152,554,717 (GRCm38)	I935N	probably benign	Het
Olfr1257	T	C	2: 89,881,261 (GRCm38)	V145A	probably damaging	Het
Olfr1395	A	T	11: 49,148,994 (GRCm38)	M246L	probably benign	Het
Pcdha12	A	G	18: 37,021,608 (GRCm38)	Y460C	probably damaging	Het
Pcdha4	G	T	18: 36,953,058 (GRCm38)	R98L	probably benign	Het
Pitpnc1	A	G	11: 107,212,572 (GRCm38)	S234P	probably damaging	Het
Pmfbp1	A	T	8: 109,513,871 (GRCm38)	Y195F	probably damaging	Het
Prl6a1	T	C	13: 27,318,142 (GRCm38)	I164T	probably damaging	Het
Ptpn18	G	A	1: 34,472,192 (GRCm38)		probably null	Het
Rhbdl2	G	A	4: 123,829,642 (GRCm38)	A280T	possibly damaging	Het
Rsf1	CGGC	CGGCGGCGGGGGC	7: 97,579,932 (GRCm38)		probably benign	Het
Sema3a	T	G	5: 13,516,263 (GRCm38)	Y171*	probably null	Het
Set	A	G	2: 30,066,885 (GRCm38)	E22G	probably benign	Het
Sirpb1b	A	T	3: 15,542,997 (GRCm38)	D229E	probably benign	Het
Slc12a2	A	T	18: 57,941,013 (GRCm38)	I1096F	probably benign	Het
Slc30a5	T	C	13: 100,818,180 (GRCm38)	I159V	probably benign	Het
Slc35f3	CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	8: 126,389,038 (GRCm38)		probably benign	Het
Slc6a20b	A	G	9: 123,604,948 (GRCm38)	I275T	probably benign	Het
Stradb	A	C	1: 58,988,518 (GRCm38)	D69A	possibly damaging	Het
Supt16	A	T	14: 52,178,051 (GRCm38)	V409E	probably damaging	Het
Tcea2	A	G	2: 181,686,664 (GRCm38)	N195S	probably damaging	Het
Thumpd3	T	C	6: 113,056,111 (GRCm38)	V270A	possibly damaging	Het
Urgcp	T	A	11: 5,718,116 (GRCm38)	H117L	probably benign	Het
Vps13c	T	A	9: 67,972,001 (GRCm38)	M3408K	probably damaging	Het
Wdfy4	A	C	14: 33,106,131 (GRCm38)	M1078R		Het
Wdr63	A	G	3: 146,097,145 (GRCm38)	V97A	probably damaging	Het
Ypel5	G	A	17: 72,846,444 (GRCm38)		probably null	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
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
R9385:Ntn1	UTSW	11	68,385,187 (GRCm38)	missense	probably damaging	1.00
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'- TCTTGGGATCCGAAGAGTTGC -3'
(R):5'- TTCAGGTTTGGAAGCCCCTG -3'

Sequencing Primer
(F):5'- TCGCTCACCACGCAGTAG -3'
(R):5'- CAGTCTCGGGGTTGGTACC -3'

Posted On

2019-10-07