Mutagenetix > Incidental Mutation

Incidental Mutation 'R4870:Ntn1'

376513

Institutional Source

Beutler Lab

Gene Symbol

Ntn1

Ensembl Gene

ENSMUSG00000020902

Gene Name

netrin 1

Synonyms

Netrin-1

MMRRC Submission

042480-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.735) question?

Stock #

R4870 (G1)

Quality Score

217

Status

Validated

Chromosome

Chromosomal Location

68100190-68277652 bp(-) (GRCm39)

Type of Mutation

small deletion (1 aa in frame mutation)

DNA Base Change (assembly)

CCTTCTTCT to CCTTCT at 68103852 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000104314 (fasta)

Gene Model

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

AlphaFold

O09118

Predicted Effect

probably benign
Transcript: ENSMUST00000021284

SMART Domains

Protein: ENSMUSP00000021284
Gene: ENSMUSG00000020902

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

SMART Domains

Protein: ENSMUSP00000104314
Gene: ENSMUSG00000020902

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 94.1%

Validation Efficiency

100% (77/77)

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
Abcb11	A	T	2: 69,069,540 (GRCm39)	I1285N	probably damaging	Het
Abcc8	G	A	7: 45,756,683 (GRCm39)	R721*	probably null	Het
Alox8	T	C	11: 69,077,394 (GRCm39)	Y423C	probably damaging	Het
Ankle2	T	A	5: 110,399,344 (GRCm39)		probably null	Het
Cdc14a	A	G	3: 116,217,109 (GRCm39)	I9T	probably benign	Het
Ceacam18	T	C	7: 43,291,328 (GRCm39)	C257R	probably damaging	Het
Cilp	T	C	9: 65,186,980 (GRCm39)	V1025A	probably damaging	Het
Clcn7	G	T	17: 25,372,539 (GRCm39)		probably benign	Het
Csnk1d	A	T	11: 120,874,014 (GRCm39)		probably benign	Het
Cyp11b2	A	G	15: 74,724,995 (GRCm39)	S285P	probably benign	Het
Dip2b	T	A	15: 100,093,665 (GRCm39)		probably null	Het
Dmrt1	T	A	19: 25,483,219 (GRCm39)	M1K	probably null	Het
Dnajc14	T	C	10: 128,653,219 (GRCm39)	V684A	probably benign	Het
Dnmt3b	A	G	2: 153,512,284 (GRCm39)	Q335R	probably benign	Het
Exoc3l2	T	A	7: 19,229,117 (GRCm39)	C772S	unknown	Het
F2rl1	A	T	13: 95,650,492 (GRCm39)	F130Y	probably damaging	Het
Galk2	C	G	2: 125,771,557 (GRCm39)	S194*	probably null	Het
Garre1	C	A	7: 33,984,312 (GRCm39)	V104L	possibly damaging	Het
Gpbp1l1	A	G	4: 116,430,714 (GRCm39)	T62A	probably benign	Het
H2-Q10	A	T	17: 35,781,357 (GRCm39)	D53V	probably damaging	Het
H2-T22	T	C	17: 36,349,924 (GRCm39)	K356R	probably benign	Het
Insrr	G	A	3: 87,718,911 (GRCm39)	V956M	probably damaging	Het
Ints7	A	G	1: 191,328,443 (GRCm39)	T239A	probably damaging	Het
Isl1	A	G	13: 116,444,806 (GRCm39)		probably benign	Het
Kcng2	A	G	18: 80,366,083 (GRCm39)	C90R	probably benign	Het
Kif3c	C	T	12: 3,451,735 (GRCm39)	P171S	probably damaging	Het
Knl1	A	G	2: 118,911,994 (GRCm39)	T1704A	probably benign	Het
Lats1	A	G	10: 7,581,549 (GRCm39)	Y778C	probably damaging	Het
Limd2	T	C	11: 106,050,215 (GRCm39)	M1V	probably null	Het
Mcm10	A	T	2: 5,008,970 (GRCm39)	I333N	probably damaging	Het
Mipep	T	A	14: 61,040,329 (GRCm39)	L283*	probably null	Het
Mixl1	A	G	1: 180,522,237 (GRCm39)	S215P	probably benign	Het
Mmp21	A	G	7: 133,280,406 (GRCm39)	L188P	probably damaging	Het
Mob1a	T	C	6: 83,317,221 (GRCm39)	S213P	probably benign	Het
Mplkipl1	C	T	19: 61,164,364 (GRCm39)	G24R	unknown	Het
Ndufaf6	T	C	4: 11,060,917 (GRCm39)	T220A	probably benign	Het
Nr4a3	A	T	4: 48,051,651 (GRCm39)	Y135F	possibly damaging	Het
Obscn	A	T	11: 59,027,032 (GRCm39)	L57Q	probably damaging	Het
Or52e19b	T	A	7: 103,032,840 (GRCm39)	D123V	probably damaging	Het
Or5d35	T	C	2: 87,855,804 (GRCm39)	L246P	probably damaging	Het
Pirb	T	A	7: 3,715,661 (GRCm39)	M839L	probably benign	Het
Plcl2	A	G	17: 50,914,254 (GRCm39)	E421G	possibly damaging	Het
Ppp1r12b	T	C	1: 134,876,771 (GRCm39)	N99S	probably benign	Het
Ptpro	A	G	6: 137,354,130 (GRCm39)	K169E	probably damaging	Het
Rita1	T	A	5: 120,749,448 (GRCm39)	K88N	probably damaging	Het
Rptn	A	T	3: 93,303,776 (GRCm39)	K370*	probably null	Het
Simc1	A	G	13: 54,687,576 (GRCm39)	D115G	probably null	Het
Stab1	T	A	14: 30,864,000 (GRCm39)	N136I	probably benign	Het
Syt4	T	A	18: 31,580,409 (GRCm39)		probably benign	Het
Sytl2	A	T	7: 90,038,106 (GRCm39)	N522I	probably damaging	Het
Tax1bp1	A	G	6: 52,706,478 (GRCm39)		probably benign	Het
Tenm2	A	T	11: 35,969,396 (GRCm39)	D847E	probably damaging	Het
Th	G	T	7: 142,447,834 (GRCm39)	D321E	probably benign	Het
Tmem44	A	T	16: 30,359,591 (GRCm39)	L46Q	probably damaging	Het
Trp53bp1	A	G	2: 121,087,122 (GRCm39)	L178P	probably damaging	Het
Trp63	A	G	16: 25,684,968 (GRCm39)	*285W	probably null	Het
Tsen34	T	C	7: 3,697,380 (GRCm39)		probably benign	Het
Tssk4	C	T	14: 55,889,272 (GRCm39)	T256I	probably benign	Het
Ttc17	A	T	2: 94,196,954 (GRCm39)	N464K	probably damaging	Het
Ttll2	C	T	17: 7,618,998 (GRCm39)	V310I	probably benign	Het
Ubn1	A	G	16: 4,895,177 (GRCm39)	E741G	probably damaging	Het
Urad	T	A	5: 147,252,264 (GRCm39)	I63F	probably damaging	Het
Vcan	T	C	13: 89,852,858 (GRCm39)	T701A	probably benign	Het
Vmn2r58	A	G	7: 41,486,639 (GRCm39)	V752A	possibly damaging	Het
Vmn2r69	C	A	7: 85,060,793 (GRCm39)	V264L	possibly damaging	Het
Zfp292	A	G	4: 34,808,917 (GRCm39)	S1376P	probably damaging	Het
Zfp955a	G	A	17: 33,460,699 (GRCm39)	R478*	probably null	Het
Znfx1	A	C	2: 166,897,189 (GRCm39)	F578L	probably benign	Het

Other mutations in Ntn1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00155:Ntn1	APN	11	68,117,445 (GRCm39)	splice site	probably benign
IGL00972:Ntn1	APN	11	68,104,098 (GRCm39)	missense	possibly damaging	0.83
IGL01695:Ntn1	APN	11	68,117,430 (GRCm39)	missense	probably benign	0.00
IGL01731:Ntn1	APN	11	68,276,244 (GRCm39)	missense	probably damaging	1.00
IGL02008:Ntn1	APN	11	68,104,089 (GRCm39)	missense	probably damaging	1.00
IGL02584:Ntn1	APN	11	68,168,356 (GRCm39)	missense	probably damaging	1.00
IGL02664:Ntn1	APN	11	68,276,295 (GRCm39)	missense	probably benign	0.06
R0363:Ntn1	UTSW	11	68,276,369 (GRCm39)	missense	probably benign	0.44
R1201:Ntn1	UTSW	11	68,104,052 (GRCm39)	missense	probably damaging	0.96
R1268:Ntn1	UTSW	11	68,103,959 (GRCm39)	small deletion	probably benign
R1913:Ntn1	UTSW	11	68,104,011 (GRCm39)	missense	probably damaging	1.00
R2245:Ntn1	UTSW	11	68,276,120 (GRCm39)	missense	probably benign	0.12
R2248:Ntn1	UTSW	11	68,168,398 (GRCm39)	missense	possibly damaging	0.95
R2359:Ntn1	UTSW	11	68,276,438 (GRCm39)	missense	probably damaging	1.00
R2862:Ntn1	UTSW	11	68,276,690 (GRCm39)	missense	probably benign	0.00
R3830:Ntn1	UTSW	11	68,276,619 (GRCm39)	missense	probably damaging	1.00
R3851:Ntn1	UTSW	11	68,276,619 (GRCm39)	missense	probably damaging	1.00
R3852:Ntn1	UTSW	11	68,276,619 (GRCm39)	missense	probably damaging	1.00
R4413:Ntn1	UTSW	11	68,276,736 (GRCm39)	missense	probably damaging	1.00
R4871:Ntn1	UTSW	11	68,103,852 (GRCm39)	small deletion	probably benign
R4952:Ntn1	UTSW	11	68,103,852 (GRCm39)	small deletion	probably benign
R5001:Ntn1	UTSW	11	68,151,358 (GRCm39)	missense	probably damaging	1.00
R5279:Ntn1	UTSW	11	68,276,538 (GRCm39)	missense	probably benign	0.37
R6217:Ntn1	UTSW	11	68,104,158 (GRCm39)	missense	possibly damaging	0.91
R6505:Ntn1	UTSW	11	68,104,025 (GRCm39)	missense	probably damaging	1.00
R6669:Ntn1	UTSW	11	68,276,576 (GRCm39)	missense	probably benign	0.00
R7172:Ntn1	UTSW	11	68,276,493 (GRCm39)	missense	probably damaging	1.00
R7411:Ntn1	UTSW	11	68,276,915 (GRCm39)	missense	probably benign	0.15
R8314:Ntn1	UTSW	11	68,276,450 (GRCm39)	missense	probably damaging	1.00
R9216:Ntn1	UTSW	11	68,117,397 (GRCm39)	missense	possibly damaging	0.76
R9385:Ntn1	UTSW	11	68,276,013 (GRCm39)	missense	probably damaging	1.00
R9442:Ntn1	UTSW	11	68,148,485 (GRCm39)	intron	probably benign
R9697:Ntn1	UTSW	11	68,168,356 (GRCm39)	missense	probably damaging	1.00
R9752:Ntn1	UTSW	11	68,276,712 (GRCm39)	missense	possibly damaging	0.80
X0027:Ntn1	UTSW	11	68,276,462 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCAATACAGGGTGCTTTCTGCC -3'
(R):5'- AGACATCGCCTGCAAGTGTC -3'

Sequencing Primer
(F):5'- TGCCATGCGCATAAGAGC -3'
(R):5'- GCCTGCAAGTGTCCCAAAATC -3'

Posted On

2016-03-17