Mutagenetix > Incidental Mutation

Incidental Mutation 'R3944:Ntng2'

474775

Institutional Source

Beutler Lab

Gene Symbol

Ntng2

Ensembl Gene

ENSMUSG00000035513

Gene Name

netrin G2

Synonyms

Lmnt2, 2610016D08Rik

MMRRC Submission

040925-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.171) question?

Stock #

R3944 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

29084738-29138111 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 29094289 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 361 (L361F)

Ref Sequence

ENSEMBL: ENSMUSP00000071190 (fasta)

Gene Model

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

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: L361F

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000071190
Gene: ENSMUSG00000035513
AA Change: L361F

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: 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

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.7%

Validation Efficiency

100% (61/61)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	G	T	12: 71,211,320 (GRCm39)	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,211,321 (GRCm39)	E685V	possibly damaging	Het
6430548M08Rik	T	C	8: 120,879,241 (GRCm39)	L213P	probably damaging	Het
Akap12	A	G	10: 4,307,347 (GRCm39)	K1491E	probably benign	Het
Akr1c12	T	A	13: 4,329,339 (GRCm39)	H6L	probably benign	Het
Ankrd50	C	T	3: 38,506,645 (GRCm39)	C251Y	probably benign	Het
Bltp1	A	G	3: 37,084,210 (GRCm39)	I3876V	possibly damaging	Het
Bltp2	T	A	11: 78,160,350 (GRCm39)	L603*	probably null	Het
Calu	T	C	6: 29,361,710 (GRCm39)	S125P	possibly damaging	Het
Cdh10	A	G	15: 18,964,335 (GRCm39)	T166A	probably benign	Het
Clip1	T	C	5: 123,755,892 (GRCm39)		probably benign	Het
Cntn4	T	G	6: 106,595,375 (GRCm39)	N497K	probably benign	Het
Cspg4	T	A	9: 56,793,407 (GRCm39)	C381S	probably damaging	Het
Cyp1a2	T	C	9: 57,589,151 (GRCm39)	N221S	probably benign	Het
Dnaaf5	C	T	5: 139,138,679 (GRCm39)		probably benign	Het
Dnah7b	A	G	1: 46,176,645 (GRCm39)	D755G	probably damaging	Het
Dscam	A	T	16: 96,622,197 (GRCm39)	V418E	probably damaging	Het
Eefsec	T	A	6: 88,275,076 (GRCm39)	H296L	probably benign	Het
Elmo3	T	C	8: 106,035,852 (GRCm39)		probably null	Het
Gcm1	C	T	9: 77,967,098 (GRCm39)	Q106*	probably null	Het
Gnl1	G	T	17: 36,299,413 (GRCm39)	G528V	probably benign	Het
Gpat4	G	A	8: 23,670,171 (GRCm39)	P286L	probably damaging	Het
H2-T23	A	G	17: 36,341,535 (GRCm39)	V312A	probably benign	Het
Hectd4	C	A	5: 121,441,588 (GRCm39)		probably benign	Het
Hoxa7	T	A	6: 52,193,606 (GRCm39)		probably benign	Het
Ifnlr1	T	A	4: 135,428,539 (GRCm39)	V122E	probably damaging	Het
Kcnt2	T	C	1: 140,512,025 (GRCm39)	M1036T	probably damaging	Het
Khdc1b	G	T	1: 21,455,030 (GRCm39)	K96N	probably damaging	Het
Kif19a	A	T	11: 114,677,561 (GRCm39)	Y578F	probably benign	Het
Krt4	G	A	15: 101,829,685 (GRCm39)	T281M	probably benign	Het
Lyl1	A	C	8: 85,430,631 (GRCm39)	T178P	probably damaging	Het
Marchf6	A	G	15: 31,488,960 (GRCm39)	V317A	probably benign	Het
Mmp1b	G	A	9: 7,384,708 (GRCm39)	T280I	possibly damaging	Het
Mpi	T	C	9: 57,452,536 (GRCm39)	D332G	probably damaging	Het
Naip6	T	C	13: 100,431,247 (GRCm39)	T1197A	probably benign	Het
Obscn	A	T	11: 59,023,373 (GRCm39)	I668N	probably damaging	Het
Or52x1	A	T	7: 104,853,162 (GRCm39)	C129*	probably null	Het
Or8k40	A	G	2: 86,584,525 (GRCm39)	S186P	probably benign	Het
Pabpc1l	A	G	2: 163,884,247 (GRCm39)	E328G	probably damaging	Het
Pan3	A	T	5: 147,387,540 (GRCm39)	N170Y	probably damaging	Het
Prdm2	C	T	4: 142,858,385 (GRCm39)	R1635Q	possibly damaging	Het
Rassf6	G	T	5: 90,752,185 (GRCm39)	Q258K	possibly damaging	Het
Ribc2	A	G	15: 85,019,451 (GRCm39)	M78V	probably benign	Het
Rp9	A	C	9: 22,361,154 (GRCm39)	H44Q	probably damaging	Het
Skint5	T	A	4: 113,799,950 (GRCm39)	H73L	probably damaging	Het
Slc6a12	A	T	6: 121,331,239 (GRCm39)		probably null	Het
Smg6	G	A	11: 74,820,367 (GRCm39)	G213R	probably damaging	Het
Spout1	A	G	2: 30,064,148 (GRCm39)	V372A	probably benign	Het
Svep1	T	A	4: 58,084,807 (GRCm39)		probably null	Het
Tab1	T	C	15: 80,037,941 (GRCm39)	L258P	probably damaging	Het
Tbl3	A	G	17: 24,919,682 (GRCm39)	S791P	possibly damaging	Het
Tcof1	C	A	18: 60,955,909 (GRCm39)	D927Y	probably damaging	Het
Tmem59l	A	G	8: 70,939,951 (GRCm39)	L6S	unknown	Het
Topaz1	T	C	9: 122,579,669 (GRCm39)	S860P	possibly damaging	Het
Vill	T	C	9: 118,897,499 (GRCm39)	I258T	probably benign	Het
Vmn1r204	G	A	13: 22,741,014 (GRCm39)	R215H	probably benign	Het
Vmn2r106	A	T	17: 20,487,913 (GRCm39)	F829I	probably damaging	Het
Vmn2r14	A	T	5: 109,363,930 (GRCm39)	I662N	probably damaging	Het
Vmn2r58	A	T	7: 41,513,885 (GRCm39)	F253I	probably benign	Het
Vps8	A	T	16: 21,288,873 (GRCm39)	N411Y	probably damaging	Het
Zfp932	T	A	5: 110,157,820 (GRCm39)	V506E	probably benign	Het

Other mutations in Ntng2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0388:Ntng2	UTSW	2	29,097,438 (GRCm39)	missense	probably damaging	1.00
R0526:Ntng2	UTSW	2	29,087,074 (GRCm39)	missense	probably damaging	1.00
R1835:Ntng2	UTSW	2	29,087,069 (GRCm39)	nonsense	probably null
R1961:Ntng2	UTSW	2	29,087,110 (GRCm39)	missense	probably damaging	1.00
R2507:Ntng2	UTSW	2	29,097,531 (GRCm39)	missense	probably damaging	1.00
R2920:Ntng2	UTSW	2	29,094,223 (GRCm39)	missense	probably benign
R3954:Ntng2	UTSW	2	29,097,547 (GRCm39)	missense	probably damaging	0.97
R6235:Ntng2	UTSW	2	29,117,991 (GRCm39)	missense	probably damaging	1.00
R6742:Ntng2	UTSW	2	29,090,940 (GRCm39)	missense	probably benign
R6751:Ntng2	UTSW	2	29,118,055 (GRCm39)	missense	possibly damaging	0.89
R6774:Ntng2	UTSW	2	29,087,102 (GRCm39)	missense	probably damaging	1.00
R6907:Ntng2	UTSW	2	29,118,218 (GRCm39)	missense	probably damaging	1.00
R6964:Ntng2	UTSW	2	29,087,041 (GRCm39)	missense	probably benign	0.02
R6995:Ntng2	UTSW	2	29,087,080 (GRCm39)	missense	probably damaging	1.00
R7214:Ntng2	UTSW	2	29,117,732 (GRCm39)	missense	probably damaging	0.99
R7249:Ntng2	UTSW	2	29,118,004 (GRCm39)	missense	probably benign	0.03
R7825:Ntng2	UTSW	2	29,094,090 (GRCm39)	missense	probably benign	0.00
R8337:Ntng2	UTSW	2	29,138,050 (GRCm39)	start codon destroyed	probably null	0.88
R8775:Ntng2	UTSW	2	29,117,976 (GRCm39)	missense	possibly damaging	0.63
R8775-TAIL:Ntng2	UTSW	2	29,117,976 (GRCm39)	missense	possibly damaging	0.63
R9058:Ntng2	UTSW	2	29,094,202 (GRCm39)	missense	probably benign
R9203:Ntng2	UTSW	2	29,084,998 (GRCm39)	nonsense	probably null
R9319:Ntng2	UTSW	2	29,091,121 (GRCm39)	intron	probably benign
R9411:Ntng2	UTSW	2	29,138,048 (GRCm39)	missense	probably damaging	1.00
R9480:Ntng2	UTSW	2	29,137,997 (GRCm39)	missense	probably damaging	0.99
R9512:Ntng2	UTSW	2	29,117,969 (GRCm39)	missense	possibly damaging	0.89
X0023:Ntng2	UTSW	2	29,087,075 (GRCm39)	nonsense	probably null
X0028:Ntng2	UTSW	2	29,087,161 (GRCm39)	missense	possibly damaging	0.55

Predicted Primers

Posted On

2017-04-14