Mutagenetix > Incidental Mutation

Incidental Mutation 'R2920:Ntng2'

477499

Institutional Source

Beutler Lab

Gene Symbol

Ntng2

Ensembl Gene

ENSMUSG00000035513

Gene Name

netrin G2

Synonyms

Lmnt2, 2610016D08Rik

MMRRC Submission

040505-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.139) question?

Stock #

R2920 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

29194541-29253005 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 29204211 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 383 (M383V)

Ref Sequence

ENSEMBL: ENSMUSP00000071190 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048455] [ENSMUST00000071201] [ENSMUST00000091153] [ENSMUST00000102873] [ENSMUST00000177689] [ENSMUST00000183583]

AlphaFold

Q8R4F1

Predicted Effect

probably benign
Transcript: ENSMUST00000048455

SMART Domains

Protein: ENSMUSP00000035468
Gene: ENSMUSG00000035513

Domain	Start	End	E-Value	Type
LamNT	33	285	2.79e-15	SMART
EGF_Lam	287	344	1.41e-5	SMART
low complexity region	372	385	N/A	INTRINSIC
EGF_Lam	413	466	5.28e-5	SMART
EGF_Lam	469	511	4.12e-7	SMART
EGF	515	547	2.26e-4	SMART
low complexity region	574	589	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000071201
AA Change: M383V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000071190
Gene: ENSMUSG00000035513
AA Change: M383V

Domain	Start	End	E-Value	Type
LamNT	33	285	2.79e-15	SMART
EGF_Lam	287	346	9.19e-5	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000091153

SMART Domains

Protein: ENSMUSP00000088688
Gene: ENSMUSG00000035513

Domain	Start	End	E-Value	Type
LamNT	33	285	2.79e-15	SMART
EGF_Lam	287	344	1.41e-5	SMART
EGF_Lam	388	441	5.28e-5	SMART
EGF_Lam	444	486	4.12e-7	SMART
EGF	490	522	2.26e-4	SMART
low complexity region	549	564	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000102873

SMART Domains

Protein: ENSMUSP00000099937
Gene: ENSMUSG00000035513

Domain	Start	End	E-Value	Type
LamNT	33	285	2.79e-15	SMART
EGF_Lam	287	344	1.41e-5	SMART
EGF_Lam	354	407	5.28e-5	SMART
EGF_Lam	410	452	4.12e-7	SMART
EGF	456	488	2.26e-4	SMART
low complexity region	515	530	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125765

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143194

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147274

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147897

Predicted Effect

probably benign
Transcript: ENSMUST00000177689

SMART Domains

Protein: ENSMUSP00000136659
Gene: ENSMUSG00000035513

Domain	Start	End	E-Value	Type
LamNT	33	285	2.79e-15	SMART
EGF_Lam	287	344	1.41e-5	SMART
EGF_Lam	354	407	5.28e-5	SMART
EGF_Lam	410	452	4.12e-7	SMART
EGF	456	488	2.26e-4	SMART
low complexity region	515	530	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000183583

SMART Domains

Protein: ENSMUSP00000139034
Gene: ENSMUSG00000035513

Domain	Start	End	E-Value	Type
LamNT	33	285	2.79e-15	SMART
EGF_Lam	287	344	1.41e-5	SMART
low complexity region	345	368	N/A	INTRINSIC

Coding Region Coverage

1x: 99.1%
3x: 98.6%
10x: 97.3%
20x: 95.0%

Validation Efficiency

96% (48/50)

MGI Phenotype

FUNCTION: The protein encoded by this gene belongs to a subclass of the netrin family called netrin-G proteins. Unlike classic netrins, which act as diffusible chemoattractants, netrin-Gs are glycosylphosphatidylinositol-anchored membrane proteins that interact with specific transmembrane proteins. In mouse, this gene is preferentially expressed in the cerebral cortex, habenular nucleus and superior colliculus. Knockout mutant mice display a lack of behavioral startle in response to acoustic stimuli. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]
PHENOTYPE: Mice homozygous for a null allele exhibit an absence of startle reflex and abnormal ABR amplitude. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgb	A	G	10: 10,390,243	Y1025H	probably damaging	Het
Adgrv1	C	T	13: 81,448,865	A4122T	probably benign	Het
Aloxe3	C	T	11: 69,142,923	T621I	probably damaging	Het
Atp2b3	A	C	X: 73,533,920	T318P	probably benign	Het
Atrx	A	T	X: 105,830,868	V1962D	probably benign	Het
Chl1	C	A	6: 103,695,343	T531K	probably damaging	Het
Clca3b	T	A	3: 144,837,853	D405V	probably benign	Het
Clca3b	C	T	3: 144,846,931	D115N	probably benign	Het
Comtd1	A	G	14: 21,847,618	L149P	possibly damaging	Het
Cops7a	A	G	6: 124,962,362	V108A	probably benign	Het
Crebbp	A	G	16: 4,119,082	V343A	probably damaging	Het
Edrf1	T	A	7: 133,667,572	D1109E	probably benign	Het
Elmo3	A	G	8: 105,308,059	E359G	possibly damaging	Het
Ep400	C	A	5: 110,755,914	G273V	probably damaging	Het
Fgfr3	A	G	5: 33,733,940	N516S	probably damaging	Het
Glb1l	T	A	1: 75,209,190	E31D	probably benign	Het
Gm10093	A	G	17: 78,492,846	D422G	probably damaging	Het
Il12rb2	C	T	6: 67,360,568	V110I	probably damaging	Het
Ints3	T	C	3: 90,393,162	E884G	probably benign	Het
Lin7b	A	G	7: 45,368,397	V170A	possibly damaging	Het
Lrch2	A	T	X: 147,473,030	V750E	probably damaging	Het
Mepe	C	T	5: 104,338,247	R418C	probably damaging	Het
Mettl25	A	T	10: 105,765,177		probably null	Het
Mphosph9	G	A	5: 124,261,006	T982I	probably benign	Het
Mslnl	G	A	17: 25,742,934	V128M	probably damaging	Het
Myo10	G	T	15: 25,801,140	V1472L	probably damaging	Het
Myo9b	A	G	8: 71,325,857	K445R	probably damaging	Het
Olfr1353	A	C	10: 78,970,012	D121A	probably damaging	Het
Olfr30	T	C	11: 58,455,577	Y124C	probably damaging	Het
Olfr702	C	T	7: 106,824,364	R54Q	probably benign	Het
Pak6	A	T	2: 118,694,007		probably benign	Het
Pcdh8	G	T	14: 79,768,714	P803Q	possibly damaging	Het
Pfkfb3	C	T	2: 11,484,327	V286I	probably benign	Het
Rbp3	C	T	14: 33,956,018	T641M	probably damaging	Het
Rint1	A	G	5: 23,805,402	E203G	probably benign	Het
Sdf2	G	C	11: 78,254,854	V126L	probably damaging	Het
Slc13a5	T	C	11: 72,247,791	E442G	possibly damaging	Het
Slc14a2	G	T	18: 78,158,297	S669*	probably null	Het
Slc38a7	A	G	8: 95,845,943	I157T	possibly damaging	Het
Slc4a5	T	C	6: 83,264,387	L215P	probably damaging	Het
Tbc1d9	T	C	8: 83,210,469	V60A	probably benign	Het
Tcerg1l	T	C	7: 138,248,379	R422G	probably damaging	Het
Tmem107	T	C	11: 69,071,421	L68P	probably damaging	Het
Ugt2b5	A	G	5: 87,125,407	F467L	possibly damaging	Het
Vmn1r19	A	T	6: 57,404,924	N154I	probably benign	Het
Vmn2r69	T	A	7: 85,411,765	I204L	probably benign	Het
Zbtb1	T	A	12: 76,385,845	S202T	possibly damaging	Het

Other mutations in Ntng2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0388:Ntng2	UTSW	2	29207426	missense	probably damaging	1.00
R0526:Ntng2	UTSW	2	29197062	missense	probably damaging	1.00
R1835:Ntng2	UTSW	2	29197057	nonsense	probably null
R1961:Ntng2	UTSW	2	29197098	missense	probably damaging	1.00
R2507:Ntng2	UTSW	2	29207519	missense	probably damaging	1.00
R3944:Ntng2	UTSW	2	29204277	missense	probably benign	0.02
R3954:Ntng2	UTSW	2	29207535	missense	probably damaging	0.97
R6235:Ntng2	UTSW	2	29227979	missense	probably damaging	1.00
R6742:Ntng2	UTSW	2	29200928	missense	probably benign
R6751:Ntng2	UTSW	2	29228043	missense	possibly damaging	0.89
R6774:Ntng2	UTSW	2	29197090	missense	probably damaging	1.00
R6907:Ntng2	UTSW	2	29228206	missense	probably damaging	1.00
R6964:Ntng2	UTSW	2	29197029	missense	probably benign	0.02
R6995:Ntng2	UTSW	2	29197068	missense	probably damaging	1.00
R7214:Ntng2	UTSW	2	29227720	missense	probably damaging	0.99
R7249:Ntng2	UTSW	2	29227992	missense	probably benign	0.03
R7825:Ntng2	UTSW	2	29204078	missense	probably benign	0.00
R8337:Ntng2	UTSW	2	29248038	start codon destroyed	probably null	0.88
R8775:Ntng2	UTSW	2	29227964	missense	possibly damaging	0.63
R8775-TAIL:Ntng2	UTSW	2	29227964	missense	possibly damaging	0.63
R9058:Ntng2	UTSW	2	29204190	missense	probably benign
R9203:Ntng2	UTSW	2	29194986	nonsense	probably null
R9319:Ntng2	UTSW	2	29201109	intron	probably benign
R9411:Ntng2	UTSW	2	29248036	missense	probably damaging	1.00
R9480:Ntng2	UTSW	2	29247985	missense	probably damaging	0.99
R9512:Ntng2	UTSW	2	29227957	missense	possibly damaging	0.89
X0023:Ntng2	UTSW	2	29197063	nonsense	probably null
X0028:Ntng2	UTSW	2	29197149	missense	possibly damaging	0.55

Predicted Primers

Posted On

2017-05-15