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

067719-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.673) question?

Stock #

R8314 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

68100190-68277652 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 68276450 bp (GRCm39)

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: 122,777,993 (GRCm39)	T84S	probably benign	Het
4930533K18Rik	A	G	10: 70,711,106 (GRCm39)	T76A	noncoding transcript	Het
Adgrl1	C	T	8: 84,665,018 (GRCm39)	T1235I	probably damaging	Het
Ak4	C	T	4: 101,320,782 (GRCm39)	T197M	possibly damaging	Het
Alkal2	G	T	12: 30,934,850 (GRCm39)	G23V	probably damaging	Het
Alox12e	T	C	11: 70,206,998 (GRCm39)	M603V	possibly damaging	Het
Ap3d1	A	T	10: 80,559,373 (GRCm39)	I267N	possibly damaging	Het
Arhgef2	T	A	3: 88,528,600 (GRCm39)	I12N	probably benign	Het
Asnsd1	A	T	1: 53,385,814 (GRCm39)	M520K	probably damaging	Het
B3galt5	T	C	16: 96,116,649 (GRCm39)	L94P	probably damaging	Het
Birc2	T	C	9: 7,872,942 (GRCm39)		probably benign	Het
Cd177	T	C	7: 24,450,013 (GRCm39)	S541G	probably benign	Het
Cdh8	T	C	8: 99,898,011 (GRCm39)	D434G	probably damaging	Het
Cdkn3	A	T	14: 47,007,330 (GRCm39)		silent	Het
Ciita	A	T	16: 10,328,852 (GRCm39)	R379W	probably damaging	Het
Cntrl	T	A	2: 35,065,155 (GRCm39)	M2153K	probably benign	Het
Csmd1	A	T	8: 16,208,258 (GRCm39)	D1232E	probably benign	Het
Cyp4a30b	A	C	4: 115,315,535 (GRCm39)	H252P	probably benign	Het
Dad1	G	A	14: 54,491,269 (GRCm39)	R11W	probably damaging	Het
Ddit3	A	G	10: 127,131,590 (GRCm39)		probably null	Het
Dusp22	G	A	13: 30,892,914 (GRCm39)		probably benign	Het
Dzank1	A	G	2: 144,344,878 (GRCm39)	L293P	probably damaging	Het
Edf1	A	G	2: 25,447,977 (GRCm39)	D5G	probably damaging	Het
Entrep3	T	C	3: 89,095,453 (GRCm39)		probably null	Het
Ep400	T	A	5: 110,903,619 (GRCm39)	M327L	unknown	Het
Fam135a	A	T	1: 24,061,002 (GRCm39)	H1341Q	possibly damaging	Het
Fbxl3	C	T	14: 103,326,876 (GRCm39)	V169I	probably benign	Het
Gm4787	A	G	12: 81,425,909 (GRCm39)	L83P	probably damaging	Het
Habp4	A	G	13: 64,332,565 (GRCm39)	E392G	probably damaging	Het
Hspg2	C	A	4: 137,266,986 (GRCm39)	P1997Q	probably benign	Het
Ints9	T	C	14: 65,266,479 (GRCm39)	S444P	probably damaging	Het
Kif18b	G	A	11: 102,803,900 (GRCm39)	S420L	probably benign	Het
Klhl17	T	A	4: 156,318,470 (GRCm39)	M51L	probably benign	Het
Kmt2b	C	T	7: 30,278,347 (GRCm39)	E1555K	probably damaging	Het
Malrd1	T	A	2: 15,757,643 (GRCm39)	D972E	unknown	Het
Mapk8ip3	A	T	17: 25,120,748 (GRCm39)	S805R	probably benign	Het
Mmp13	G	A	9: 7,272,931 (GRCm39)	C97Y	probably damaging	Het
Moxd1	T	A	10: 24,128,438 (GRCm39)	N163K	possibly damaging	Het
Nbea	T	C	3: 55,916,672 (GRCm39)	I863V	probably damaging	Het
Nectin4	A	G	1: 171,212,295 (GRCm39)	T298A	probably benign	Het
Net1	T	C	13: 3,962,672 (GRCm39)		probably benign	Het
Opa3	C	A	7: 18,978,940 (GRCm39)	A135E	possibly damaging	Het
Or1e31	T	G	11: 73,690,568 (GRCm39)	N5T	noncoding transcript	Het
Or4c3d	T	C	2: 89,882,441 (GRCm39)	T76A	probably benign	Het
Or51v14	T	C	7: 103,261,254 (GRCm39)	Q102R	probably damaging	Het
Or5w14	A	G	2: 87,541,546 (GRCm39)	F235L	probably benign	Het
Or8g30	A	G	9: 39,230,601 (GRCm39)	F103S	probably damaging	Het
Osbpl5	T	C	7: 143,248,833 (GRCm39)	I608V	probably benign	Het
Phc1	A	C	6: 122,297,937 (GRCm39)	S782R	unknown	Het
Phf8-ps	C	A	17: 33,286,038 (GRCm39)	A255S	probably benign	Het
Pip5k1b	T	A	19: 24,332,563 (GRCm39)	T374S	probably benign	Het
Prkaa1	A	G	15: 5,208,354 (GRCm39)	S541G	probably damaging	Het
Ptpn20	A	G	14: 33,344,504 (GRCm39)	N143D	possibly damaging	Het
Rabep1	A	G	11: 70,784,486 (GRCm39)	D207G	possibly damaging	Het
Rbbp8	G	A	18: 11,853,682 (GRCm39)	M296I	probably benign	Het
Recql4	C	A	15: 76,594,380 (GRCm39)	R46L	probably damaging	Het
Scgb2b18	T	C	7: 32,872,582 (GRCm39)	I74M	probably benign	Het
Shc4	A	G	2: 125,497,536 (GRCm39)	I391T	possibly damaging	Het
Slc38a4	A	G	15: 96,908,190 (GRCm39)	F184L	probably benign	Het
Slc7a6	A	G	8: 106,895,590 (GRCm39)		probably benign	Het
Smim13	G	T	13: 41,426,110 (GRCm39)	G49*	probably null	Het
Tbc1d19	A	G	5: 54,054,389 (GRCm39)	D459G	probably damaging	Het
Tnpo1	T	C	13: 99,021,133 (GRCm39)	N82S	possibly damaging	Het
Tpp2	G	A	1: 43,973,387 (GRCm39)	V47I	probably benign	Het
Umodl1	G	T	17: 31,203,806 (GRCm39)	A540S	probably damaging	Het
Vmn2r83	G	A	10: 79,317,313 (GRCm39)	V519I	possibly damaging	Het
Zfp641	T	C	15: 98,188,464 (GRCm39)	I139V	probably damaging	Het
Zfyve21	A	T	12: 111,789,715 (GRCm39)	I60F	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
R4870:Ntn1	UTSW	11	68,103,852 (GRCm39)	small deletion	probably benign
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
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'- TAGTAATAGGAGTCGCGCGC -3'
(R):5'- CTTCGGATCCCAAGAAAGCG -3'

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

Posted On

2020-07-28