Mutagenetix > Incidental Mutation

Incidental Mutation 'R9216:Ntn1'

699204

Institutional Source

Beutler Lab

Gene Symbol

Ntn1

Ensembl Gene

ENSMUSG00000020902

Gene Name

netrin 1

Synonyms

Netrin-1

MMRRC Submission

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.732) question?

Stock #

R9216 (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 68226571 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 484 (K484R)

Ref Sequence

ENSEMBL: ENSMUSP00000021284 (fasta)

Gene Model

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

AlphaFold

O09118

PDB Structure

X-ray Crystal Structure of Mouse Netrin-1 [X-RAY DIFFRACTION]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000021284
AA Change: K484R

PolyPhen 2 Score 0.763 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000021284
Gene: ENSMUSG00000020902
AA Change: K484R

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: K484R

PolyPhen 2 Score 0.763 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000104314
Gene: ENSMUSG00000020902
AA Change: K484R

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (50/50)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A430089I19Rik	A	T	5: 94,303,093	N391K	possibly damaging	Het
Akap6	A	T	12: 52,880,885	T193S	probably benign	Het
Anpep	T	C	7: 79,836,301	T558A	possibly damaging	Het
Asap2	A	G	12: 21,213,190	I269V	probably benign	Het
B3galnt2	T	C	13: 13,990,838	V273A	probably benign	Het
Bag3	C	A	7: 128,542,199	D306E	possibly damaging	Het
Bahcc1	C	T	11: 120,286,688	P2076S	probably damaging	Het
Btbd7	A	C	12: 102,795,304	L541V	probably damaging	Het
C6	A	T	15: 4,790,983	D492V	probably damaging	Het
Cdhr5	C	T	7: 141,271,702	S563N	possibly damaging	Het
Cnn1	C	G	9: 22,108,178	L281V	probably benign	Het
D430042O09Rik	T	A	7: 125,872,754	I1531N	probably damaging	Het
Egflam	G	A	15: 7,252,461	T398I	probably benign	Het
Eif4g2	T	G	7: 111,074,208	D788A	probably benign	Het
Elavl4	T	C	4: 110,251,349	E66G	probably damaging	Het
Fbxw16	T	A	9: 109,447,819	D87V	probably damaging	Het
Fsip2	A	T	2: 82,990,081	D5386V	probably damaging	Het
Ftl1	A	C	7: 45,459,535	S33A	probably benign	Het
Gm21560	T	C	14: 6,218,338	R47G	probably damaging	Het
Itpkc	A	T	7: 27,228,004	C162S	probably benign	Het
Kremen2	C	T	17: 23,743,807	A102T	probably damaging	Het
L3mbtl1	A	T	2: 162,965,052	Q480L	probably benign	Het
Lyst	T	C	13: 13,648,603	C1387R	probably benign	Het
Nmi	A	G	2: 51,955,991	V93A	probably damaging	Het
Olfr809	A	T	10: 129,775,927	R4S	probably benign	Het
Olig1	T	C	16: 91,270,027	S51P	probably benign	Het
Pah	G	T	10: 87,522,026	V4F	probably benign	Het
Peg10	GC	GCTCC	6: 4,756,452		probably benign	Het
Prox1	C	A	1: 190,160,708	E513D	possibly damaging	Het
Psd3	T	C	8: 68,120,887	N214S	probably benign	Het
Rhobtb1	A	G	10: 69,272,798	S505G	probably benign	Het
Ryr1	A	T	7: 29,101,852	L829H	probably damaging	Het
Sec16a	A	T	2: 26,414,389	D852E		Het
Senp2	T	C	16: 22,028,594		probably null	Het
Sf3b1	A	G	1: 55,012,217	V184A	probably benign	Het
Skint5	T	C	4: 113,535,758	T1226A	unknown	Het
Slc1a6	G	A	10: 78,801,858	R406H	probably damaging	Het
Slc26a4	C	A	12: 31,528,660	V665L	possibly damaging	Het
Spef2	T	C	15: 9,647,525	Y932C	probably damaging	Het
Spidr	T	A	16: 16,118,950	N97I	probably benign	Het
Ttn	A	G	2: 76,918,160	S4182P	probably damaging	Het
Tubb6	T	C	18: 67,401,444	S138P	probably damaging	Het
Ubr2	C	T	17: 46,981,359	A393T	probably benign	Het
Utrn	G	T	10: 12,813,485	P19T	probably benign	Het
Vcl	T	G	14: 20,983,447	L157W	probably damaging	Het
Vmn1r184	A	T	7: 26,267,278	I150F	probably benign	Het
Vmn1r22	A	T	6: 57,900,272	M240K	possibly damaging	Het
Vmn2r14	A	T	5: 109,221,246	S154T	probably benign	Het
Wbp2	T	C	11: 116,083,898	N37D	probably benign	Het
Zfc3h1	C	G	10: 115,385,623	D142E	unknown	Het
Zmym6	T	C	4: 127,108,707	V577A	probably benign	Het
Zxdc	C	A	6: 90,382,207	T607K	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
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'- GATAGGAATCTCAGCCTCGATGG -3'
(R):5'- CTTTAGAAAGCCAGCCTGCC -3'

Sequencing Primer
(F):5'- TGATCCAGATGCCCCTGTG -3'
(R):5'- AGCCAGCCTGCCCTGAATG -3'

Posted On

2022-02-07