Mutagenetix > Incidental Mutation

Incidental Mutation 'R6964:Ntng2'

541863

Institutional Source

Beutler Lab

Gene Symbol

Ntng2

Ensembl Gene

ENSMUSG00000035513

Gene Name

netrin G2

Synonyms

Lmnt2, 2610016D08Rik

MMRRC Submission

045074-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.127) question?

Stock #

R6964 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

29084738-29138111 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 29087041 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 452 (Y452F)

Ref Sequence

ENSEMBL: ENSMUSP00000035468 (fasta)

Gene Model

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

AlphaFold

Q8R4F1

Predicted Effect

probably benign
Transcript: ENSMUST00000048455
AA Change: Y452F

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

SMART Domains

Protein: ENSMUSP00000035468
Gene: ENSMUSG00000035513
AA Change: Y452F

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: ENSMUST00000091153
AA Change: Y427F

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000088688
Gene: ENSMUSG00000035513
AA Change: Y427F

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
AA Change: Y393F

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000099937
Gene: ENSMUSG00000035513
AA Change: Y393F

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: ENSMUST00000177689
AA Change: Y393F

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000136659
Gene: ENSMUSG00000035513
AA Change: Y393F

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

Meta Mutation Damage Score

0.1957

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.9%

Validation Efficiency

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630089N07Rik	A	T	16: 97,866,959 (GRCm39)	Y334*	probably null	Het
Abcc2	A	C	19: 43,786,515 (GRCm39)	I116L	probably benign	Het
Adamts17	T	A	7: 66,559,148 (GRCm39)	Y313N	possibly damaging	Het
Adamts17	A	G	7: 66,654,101 (GRCm39)	T444A	probably benign	Het
Adamtsl1	A	G	4: 86,075,091 (GRCm39)	I153V	probably damaging	Het
Ambra1	C	T	2: 91,747,761 (GRCm39)	Q1046*	probably null	Het
Ap1g2	A	T	14: 55,336,722 (GRCm39)	V750D	possibly damaging	Het
Bcl7a	T	C	5: 123,507,519 (GRCm39)		probably null	Het
C4bp	A	T	1: 130,585,009 (GRCm39)	L9Q	probably damaging	Het
Cadps2	A	C	6: 23,583,458 (GRCm39)	V344G	probably damaging	Het
Car7	A	G	8: 105,270,213 (GRCm39)	D15G	possibly damaging	Het
Cep126	G	C	9: 8,112,101 (GRCm39)	H157Q	probably null	Het
Chst11	C	T	10: 83,027,215 (GRCm39)	T214I	probably damaging	Het
Cntrob	G	A	11: 69,200,317 (GRCm39)	R526*	probably null	Het
Cul1	A	G	6: 47,493,443 (GRCm39)	T445A	probably benign	Het
Dclre1c	T	C	2: 3,454,206 (GRCm39)	V363A	possibly damaging	Het
Dock10	T	A	1: 80,481,365 (GRCm39)		probably benign	Het
Donson	A	G	16: 91,478,107 (GRCm39)	Y465H	probably benign	Het
Eif3e	G	A	15: 43,135,685 (GRCm39)	A118V	probably benign	Het
Fam47e	A	T	5: 92,713,911 (GRCm39)	Q180L	probably damaging	Het
Fat1	T	G	8: 45,496,982 (GRCm39)	C4156G	probably damaging	Het
Fermt2	A	T	14: 45,702,599 (GRCm39)	I441K	probably damaging	Het
Frmd4b	C	T	6: 97,282,158 (GRCm39)	R510Q	probably damaging	Het
Fscn1	C	T	5: 142,946,415 (GRCm39)	A71V	probably damaging	Het
Gfap	G	A	11: 102,787,783 (GRCm39)	A54V	possibly damaging	Het
Gjc3	C	T	5: 137,955,759 (GRCm39)	M175I	probably benign	Het
Gm10645	C	T	8: 83,892,581 (GRCm39)		probably benign	Het
Haus5	G	A	7: 30,357,040 (GRCm39)	P464S	probably benign	Het
Helz2	T	A	2: 180,872,221 (GRCm39)	I2584F	probably damaging	Het
Mak	T	A	13: 41,186,067 (GRCm39)	I534L	probably benign	Het
Map3k9	T	C	12: 81,819,777 (GRCm39)	D159G	probably benign	Het
Mcat	A	G	15: 83,432,132 (GRCm39)		probably benign	Het
Meltf	A	G	16: 31,698,980 (GRCm39)	D30G	probably benign	Het
Or10ag60	T	C	2: 87,437,957 (GRCm39)	L75P	probably damaging	Het
Or4a72	T	A	2: 89,405,333 (GRCm39)	I246F	probably benign	Het
Or5b118	T	A	19: 13,448,725 (GRCm39)	Y130*	probably null	Het
Or5p53	A	T	7: 107,532,966 (GRCm39)	I80L	probably benign	Het
Paip1	C	T	13: 119,587,306 (GRCm39)	T390I	possibly damaging	Het
Pianp	T	A	6: 124,976,353 (GRCm39)	V54D	possibly damaging	Het
Ptprn	T	C	1: 75,237,293 (GRCm39)	D103G	possibly damaging	Het
Rhcg	A	G	7: 79,250,279 (GRCm39)	V268A	probably benign	Het
Rhoj	T	A	12: 75,422,163 (GRCm39)	Y74N	probably damaging	Het
Rigi	A	G	4: 40,225,697 (GRCm39)	S235P	probably benign	Het
Snx13	A	C	12: 35,169,788 (GRCm39)	T578P	possibly damaging	Het
Star	T	A	8: 26,301,851 (GRCm39)	H227Q	probably benign	Het
Stau2	A	C	1: 16,460,229 (GRCm39)	M204R	probably damaging	Het
Steap4	A	G	5: 8,025,568 (GRCm39)	Y43C	probably damaging	Het
Syt8	A	G	7: 141,993,158 (GRCm39)	E21G	probably benign	Het
Tacr3	T	C	3: 134,535,500 (GRCm39)	V156A	probably damaging	Het
Tmem106b	C	T	6: 13,082,422 (GRCm39)	T199M	probably benign	Het
Tmem131	T	C	1: 36,835,373 (GRCm39)	T1583A	probably damaging	Het
Tom1	G	A	8: 75,778,593 (GRCm39)	V87I	probably null	Het
Treml4	G	T	17: 48,579,847 (GRCm39)		probably null	Het
Ttn	T	C	2: 76,544,457 (GRCm39)	K32843R	probably damaging	Het
Wdr95	T	G	5: 149,505,315 (GRCm39)	C223W	probably damaging	Het
Wipi1	C	T	11: 109,494,590 (GRCm39)	R81Q	probably benign	Het
Zc3h7a	G	A	16: 10,967,088 (GRCm39)	T568I	probably benign	Het
Zfp287	A	T	11: 62,615,643 (GRCm39)	I228N	probably damaging	Het
Zfp606	T	A	7: 12,223,519 (GRCm39)	V10E	probably damaging	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
R3944:Ntng2	UTSW	2	29,094,289 (GRCm39)	missense	probably benign	0.02
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
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

PCR Primer
(F):5'- CTTCGCACAGCAAGCCTTTG -3'
(R):5'- CAAATGCTCACTGACCACTG -3'

Sequencing Primer
(F):5'- GGCTGTAACTAGCACCTCTG -3'
(R):5'- GCTCACTGACCACTGGCATTTC -3'

Posted On

2018-11-28