Mutagenetix > Incidental Mutation

Incidental Mutation 'R1981:Ntng1'

222270

Institutional Source

Beutler Lab

Gene Symbol

Ntng1

Ensembl Gene

ENSMUSG00000059857

Gene Name

netrin G1

Synonyms

Lmnt1, A930010C08Rik

MMRRC Submission

039993-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1981 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

109780040-110144011 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 109935010 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 149 (V149A)

Ref Sequence

ENSEMBL: ENSMUSP00000102185 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000072596] [ENSMUST00000106570] [ENSMUST00000106571] [ENSMUST00000106575] [ENSMUST00000128219] [ENSMUST00000131027] [ENSMUST00000133268] [ENSMUST00000138344] [ENSMUST00000138953] [ENSMUST00000156177]

AlphaFold

Q8R4G0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000072596
AA Change: V149A

PolyPhen 2 Score 0.600 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000072397
Gene: ENSMUSG00000059857
AA Change: V149A

Domain	Start	End	E-Value	Type
LamNT	59	295	3.22e-18	SMART
EGF_Lam	297	354	6.86e-4	SMART
EGF_Lam	364	417	4.81e-8	SMART
EGF_Lam	420	462	5.74e-6	SMART
EGF	466	498	5.12e-3	SMART
low complexity region	522	537	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000106570
AA Change: V149A

PolyPhen 2 Score 0.398 (Sensitivity: 0.89; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000102180
Gene: ENSMUSG00000059857
AA Change: V149A

Domain	Start	End	E-Value	Type
LamNT	59	295	3.22e-18	SMART
EGF_Lam	297	355	1.28e-3	SMART
EGF	388	420	5.12e-3	SMART
low complexity region	444	459	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000106571
AA Change: V149A

PolyPhen 2 Score 0.600 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000102181
Gene: ENSMUSG00000059857
AA Change: V149A

Domain	Start	End	E-Value	Type
LamNT	59	295	3.22e-18	SMART
EGF_Lam	297	354	6.86e-4	SMART
EGF	408	440	5.12e-3	SMART
low complexity region	464	479	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000106575
AA Change: V149A

PolyPhen 2 Score 0.607 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000102185
Gene: ENSMUSG00000059857
AA Change: V149A

Domain	Start	End	E-Value	Type
LamNT	59	295	3.22e-18	SMART
EGF_Lam	297	355	3.33e-2	SMART
EGF_Lam	364	417	4.81e-8	SMART
EGF_Lam	420	462	5.74e-6	SMART
EGF	466	498	5.12e-3	SMART
low complexity region	522	537	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000128219
AA Change: V149A

PolyPhen 2 Score 0.520 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000116579
Gene: ENSMUSG00000059857
AA Change: V149A

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
LamNT	59	295	1.5e-20	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000131027
AA Change: V149A

PolyPhen 2 Score 0.600 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000118800
Gene: ENSMUSG00000059857
AA Change: V149A

Domain	Start	End	E-Value	Type
LamNT	59	295	3.22e-18	SMART
EGF_Lam	297	354	6.86e-4	SMART
EGF_Lam	364	417	4.81e-8	SMART
EGF	421	453	5.12e-3	SMART
low complexity region	477	492	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000133268
AA Change: V149A

PolyPhen 2 Score 0.600 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000117371
Gene: ENSMUSG00000059857
AA Change: V149A

Domain	Start	End	E-Value	Type
LamNT	59	295	3.22e-18	SMART
EGF_Lam	297	354	6.86e-4	SMART
EGF	365	397	5.12e-3	SMART
low complexity region	421	436	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000138344
AA Change: V149A

PolyPhen 2 Score 0.600 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000120688
Gene: ENSMUSG00000059857
AA Change: V149A

Domain	Start	End	E-Value	Type
LamNT	59	295	3.22e-18	SMART
EGF_Lam	297	354	6.86e-4	SMART
EGF_Lam	364	406	5.74e-6	SMART
EGF	410	442	5.12e-3	SMART
low complexity region	466	481	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000138953
AA Change: V149A

PolyPhen 2 Score 0.600 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000116213
Gene: ENSMUSG00000059857
AA Change: V149A

Domain	Start	End	E-Value	Type
LamNT	59	295	3.22e-18	SMART
EGF_Lam	297	354	6.86e-4	SMART
EGF	407	439	5.12e-3	SMART
low complexity region	463	478	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000156177
AA Change: V149A

PolyPhen 2 Score 0.600 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000119534
Gene: ENSMUSG00000059857
AA Change: V149A

Domain	Start	End	E-Value	Type
LamNT	59	295	3.22e-18	SMART
EGF_Lam	297	354	6.86e-4	SMART
EGF	387	419	5.12e-3	SMART
low complexity region	443	458	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000189335

Meta Mutation Damage Score

0.1757

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.6%

Validation Efficiency

99% (80/81)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a preproprotein that is processed into a secreted protein containing eukaroytic growth factor (EGF)-like domains. This protein acts to guide axon growth during neuronal development. Polymorphisms in this gene may be associated with schizophrenia. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Aug 2015]
PHENOTYPE: Mice homozygous for a null allele survive into adulthood with no major alterations in gross brain cytoarchitecture or axonal projection. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930415L06Rik	A	T	X: 89,931,445	V382E	probably damaging	Het
Anks1	T	C	17: 27,985,121	V181A	probably damaging	Het
Aqp4	T	C	18: 15,393,551	D291G	probably damaging	Het
Atad1	G	T	19: 32,695,810	D224E	probably benign	Het
Atp1a3	T	G	7: 25,000,975	E33A	probably benign	Het
Baz2b	A	G	2: 59,923,680	F1100L	possibly damaging	Het
Car7	C	T	8: 104,548,377		probably benign	Het
Casp8	C	A	1: 58,828,962		probably null	Het
Cdh23	A	T	10: 60,378,751	L1495H	probably damaging	Het
Ceacam9	T	G	7: 16,725,307	L177R	probably benign	Het
Col16a1	C	G	4: 130,065,443	P346A	unknown	Het
Cyp2c29	A	G	19: 39,307,772		probably null	Het
Cyp3a13	T	C	5: 137,911,856	S139G	probably damaging	Het
Dapk2	A	G	9: 66,268,898	H327R	probably benign	Het
Ddx19b	T	C	8: 111,009,343	T357A	possibly damaging	Het
Dnah2	A	G	11: 69,474,325	Y1944H	probably damaging	Het
Dnaic2	T	A	11: 114,732,929	V6E	probably damaging	Het
Eipr1	T	C	12: 28,863,025	Y242H	probably damaging	Het
Fam149a	T	G	8: 45,381,741	D7A	probably damaging	Het
Fam217a	T	A	13: 34,916,754	D140V	probably benign	Het
Fat4	G	A	3: 38,991,664	C3944Y	probably damaging	Het
Fezf2	G	T	14: 12,344,405	P261T	probably benign	Het
Gcsam	A	T	16: 45,619,974	T127S	probably damaging	Het
Git2	C	T	5: 114,749,559		probably benign	Het
Gm1527	T	C	3: 28,915,835		probably null	Het
Gm7030	T	A	17: 36,128,722	D122V	probably damaging	Het
Gtf3c1	A	G	7: 125,644,272	L1720P	possibly damaging	Het
Hat1	A	G	2: 71,389,977	T28A	probably benign	Het
Igf2r	G	A	17: 12,733,903	Q219*	probably null	Het
Impdh1	T	A	6: 29,206,451	D129V	possibly damaging	Het
Kcnh8	GAGACCAACGAGCAGCTGATGCTTCAGA	GAGA	17: 52,725,906	74	probably benign	Het
Ltbp3	A	G	19: 5,758,079	Q1250R	probably benign	Het
Mansc4	T	A	6: 147,075,675	I148F	probably benign	Het
Mast2	T	C	4: 116,314,840	Y569C	probably damaging	Het
Mcoln3	A	T	3: 146,140,590	K552*	probably null	Het
Mctp2	T	C	7: 72,164,698	Q601R	probably benign	Het
Mei1	A	G	15: 82,103,312	N859S	probably benign	Het
Myo19	A	T	11: 84,892,170	Q170L	possibly damaging	Het
Myo1h	T	C	5: 114,353,837	F676S	probably damaging	Het
Myo9a	A	G	9: 59,894,146	T1876A	probably benign	Het
Nav3	G	T	10: 109,719,090		probably benign	Het
Ndor1	T	C	2: 25,255,224	Y43C	probably damaging	Het
Nlrp1a	A	G	11: 71,098,938	V1102A	probably damaging	Het
Nmnat3	T	C	9: 98,410,299	I199T	possibly damaging	Het
Nsun7	T	C	5: 66,261,214	S96P	probably damaging	Het
Oas3	T	C	5: 120,761,835		probably benign	Het
Olfr1055	A	T	2: 86,347,142	I208N	possibly damaging	Het
Olfr1297	T	A	2: 111,621,241	I278F	probably benign	Het
Olfr1350	A	G	7: 6,570,558	D189G	probably benign	Het
Olfr1418	T	G	19: 11,855,007	Q315H	possibly damaging	Het
Olfr147	T	C	9: 38,403,735	L287P	probably damaging	Het
Olfr5	T	C	7: 6,480,932	M75V	probably benign	Het
Pax2	G	A	19: 44,818,465	D301N	probably damaging	Het
Pcsk4	T	A	10: 80,325,779	E176V	probably damaging	Het
Pkhd1	G	A	1: 20,117,060	P3675S	probably benign	Het
Plekho2	A	T	9: 65,558,692	L138Q	probably damaging	Het
Prkcsh	A	G	9: 22,012,868	D458G	probably damaging	Het
Prr11	T	A	11: 87,103,290	D100V	probably damaging	Het
Qars	A	G	9: 108,515,028	N136D	probably damaging	Het
Rbm15b	A	G	9: 106,881,623		probably benign	Het
Rel	C	T	11: 23,742,761	G424D	probably benign	Het
Rsrc1	A	G	3: 67,350,005	D250G	probably benign	Het
Samt3	A	C	X: 86,047,134	M211L	probably benign	Het
Scn2a	C	A	2: 65,690,170	N503K	probably damaging	Het
Sh2d6	G	A	6: 72,517,544		probably benign	Het
Smg8	T	C	11: 87,085,331	T475A	probably benign	Het
Ssxb10	A	G	X: 8,331,019	D77G	probably benign	Het
Tbx20	T	A	9: 24,770,913	K48N	possibly damaging	Het
Tead1	C	A	7: 112,891,745	D231E	probably benign	Het
Ticam1	C	T	17: 56,271,555	R180H	probably damaging	Het
Tjp1	A	T	7: 65,312,855	F1111L	probably damaging	Het
Tlr11	T	A	14: 50,361,988	I477K	possibly damaging	Het
Ttc13	A	G	8: 124,714,187		probably null	Het
Ttc17	T	C	2: 94,326,704	N411S	probably benign	Het
Usp15	T	A	10: 123,125,041		probably benign	Het
Usp18	A	G	6: 121,252,517	K32E	probably benign	Het
Vmn1r12	A	T	6: 57,159,661	M248L	probably benign	Het
Zbtb14	C	A	17: 69,388,502	F398L	probably damaging	Het
Zfp930	T	A	8: 69,228,172	L172H	probably damaging	Het
Zfp976	G	A	7: 42,613,622	H264Y	probably damaging	Het

Other mutations in Ntng1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02162:Ntng1	APN	3	109934995	nonsense	probably null
IGL02367:Ntng1	APN	3	110135513	splice site	probably null
IGL02448:Ntng1	APN	3	109934559	splice site	probably benign
IGL02487:Ntng1	APN	3	109935047	missense	probably damaging	0.98
IGL02500:Ntng1	APN	3	110135330	missense	probably damaging	1.00
IGL02578:Ntng1	APN	3	110135394	missense	probably benign	0.01
IGL03009:Ntng1	APN	3	109934702	missense	possibly damaging	0.89
IGL03096:Ntng1	APN	3	110135349	missense	probably benign	0.19
R0108:Ntng1	UTSW	3	109851755	splice site	probably benign
R0326:Ntng1	UTSW	3	110135503	nonsense	probably null
R0403:Ntng1	UTSW	3	109934611	missense	probably damaging	0.97
R0699:Ntng1	UTSW	3	109872295	missense	probably damaging	1.00
R0702:Ntng1	UTSW	3	109872254	missense	probably damaging	1.00
R2096:Ntng1	UTSW	3	109832555	missense	probably damaging	0.99
R3739:Ntng1	UTSW	3	109934691	missense	probably damaging	1.00
R3963:Ntng1	UTSW	3	109934868	missense	probably damaging	1.00
R4484:Ntng1	UTSW	3	110143808	unclassified	probably benign
R4516:Ntng1	UTSW	3	109935013	missense	probably damaging	1.00
R4518:Ntng1	UTSW	3	109935013	missense	probably damaging	1.00
R4520:Ntng1	UTSW	3	109934996	missense	probably damaging	1.00
R4523:Ntng1	UTSW	3	109934996	missense	probably damaging	1.00
R4524:Ntng1	UTSW	3	109934996	missense	probably damaging	1.00
R4776:Ntng1	UTSW	3	109934713	missense	probably damaging	1.00
R4817:Ntng1	UTSW	3	109934868	missense	probably damaging	1.00
R4827:Ntng1	UTSW	3	110135411	missense	probably damaging	1.00
R4990:Ntng1	UTSW	3	110135261	critical splice donor site	probably null
R5067:Ntng1	UTSW	3	110135345	missense	possibly damaging	0.95
R5087:Ntng1	UTSW	3	110135329	nonsense	probably null
R5196:Ntng1	UTSW	3	109934983	missense	probably damaging	1.00
R5263:Ntng1	UTSW	3	109934872	missense	probably damaging	0.99
R5743:Ntng1	UTSW	3	110135420	missense	probably damaging	1.00
R6268:Ntng1	UTSW	3	109935035	missense	probably damaging	1.00
R6292:Ntng1	UTSW	3	110143886	unclassified	probably benign
R6419:Ntng1	UTSW	3	109782853	missense	possibly damaging	0.95
R6898:Ntng1	UTSW	3	109872218	missense	probably damaging	0.98
R7081:Ntng1	UTSW	3	109851789	missense	probably benign	0.00
R7090:Ntng1	UTSW	3	109935180	nonsense	probably null
R7134:Ntng1	UTSW	3	109935129	missense	probably benign
R7302:Ntng1	UTSW	3	109832617	missense	possibly damaging	0.94
R7353:Ntng1	UTSW	3	110135447	missense	probably damaging	1.00
R7408:Ntng1	UTSW	3	109853082	missense	probably benign	0.00
R7610:Ntng1	UTSW	3	109934825	missense	probably damaging	1.00
R7686:Ntng1	UTSW	3	109935014	missense	possibly damaging	0.80
R7972:Ntng1	UTSW	3	110135486	missense	probably benign	0.02
R9210:Ntng1	UTSW	3	109872317	missense	probably damaging	1.00
R9214:Ntng1	UTSW	3	109934605	missense	probably damaging	1.00
R9266:Ntng1	UTSW	3	110143607	unclassified	probably benign
R9266:Ntng1	UTSW	3	110143846	missense	unknown
R9364:Ntng1	UTSW	3	110135364	missense	probably damaging	0.97
R9593:Ntng1	UTSW	3	109934908	missense	probably damaging	1.00
R9596:Ntng1	UTSW	3	110135640	start gained	probably benign

Predicted Primers

PCR Primer
(F):5'- ACCTGTCTTTGATCTCGAAGTGG -3'
(R):5'- TGATGCGAGTACCCCTGAAC -3'

Sequencing Primer
(F):5'- GAGTACCCAGTGGAGTACTCTTC -3'
(R):5'- GAGTACCCCTGAACTGGCAC -3'

Posted On

2014-08-25