Mutagenetix > Incidental Mutation

Incidental Mutation 'R0388:Ntng2'

216130

Institutional Source

Beutler Lab

Gene Symbol

Ntng2

Ensembl Gene

ENSMUSG00000035513

Gene Name

netrin G2

Synonyms

Lmnt2, 2610016D08Rik

MMRRC Submission

038594-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.133) question?

Stock #

R0388 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

29194541-29253005 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 29207426 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Arginine at position 341 (P341R)

Ref Sequence

ENSEMBL: ENSMUSP00000139034 (fasta)

Gene Model

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

AlphaFold

Q8R4F1

Predicted Effect

probably damaging
Transcript: ENSMUST00000048455
AA Change: P341R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000035468
Gene: ENSMUSG00000035513
AA Change: P341R

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 damaging
Transcript: ENSMUST00000071201
AA Change: P341R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000071190
Gene: ENSMUSG00000035513
AA Change: P341R

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000091153
AA Change: P341R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000088688
Gene: ENSMUSG00000035513
AA Change: P341R

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 damaging
Transcript: ENSMUST00000102873
AA Change: P341R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000099937
Gene: ENSMUSG00000035513
AA Change: P341R

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 damaging
Transcript: ENSMUST00000177689
AA Change: P341R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000136659
Gene: ENSMUSG00000035513
AA Change: P341R

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 damaging
Transcript: ENSMUST00000183583
AA Change: P341R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000139034
Gene: ENSMUSG00000035513
AA Change: P341R

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

0.4524

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.6%
20x: 90.7%

Validation Efficiency

100% (67/67)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010315B03Rik	T	C	9: 124,295,159		probably benign	Het
Acsbg1	T	C	9: 54,609,063	K678R	probably damaging	Het
Adgrg6	A	G	10: 14,450,658	I410T	probably benign	Het
Afap1l2	A	C	19: 56,917,242		probably benign	Het
Aox2	T	C	1: 58,354,406	Y1242H	probably damaging	Het
Apoo-ps	T	C	13: 107,414,673		noncoding transcript	Het
Camta1	C	A	4: 151,075,140	R1614L	probably damaging	Het
Cdh3	C	A	8: 106,539,129	T268K	probably damaging	Het
Chd5	T	A	4: 152,371,644	H923Q	probably damaging	Het
Chd7	T	C	4: 8,854,560	V1967A	probably benign	Het
Cntn3	T	C	6: 102,277,316	M222V	probably damaging	Het
Dcaf17	A	G	2: 71,078,571	K277R	probably benign	Het
Dmbt1	T	C	7: 131,096,049		probably benign	Het
Dmpk	T	A	7: 19,084,077		probably benign	Het
Dzank1	A	T	2: 144,476,106	L714Q	possibly damaging	Het
Efcab3	A	G	11: 105,109,401	D272G	possibly damaging	Het
Erbb2	G	C	11: 98,427,351	R471P	possibly damaging	Het
Esf1	T	A	2: 140,120,871	Y760F	possibly damaging	Het
Fanci	C	A	7: 79,439,630	T938K	probably benign	Het
Gnai3	A	G	3: 108,115,757		probably benign	Het
Hspg2	T	A	4: 137,511,158	C319S	probably damaging	Het
Il12a	T	A	3: 68,695,187		probably null	Het
Inpp4a	A	G	1: 37,396,160	D837G	probably damaging	Het
Kcnj5	T	A	9: 32,317,863	E13V	probably damaging	Het
Kcnq3	T	A	15: 66,000,038	Y594F	probably benign	Het
Kif16b	T	C	2: 142,740,937	E556G	probably damaging	Het
Kif28	T	C	1: 179,740,089	I39V	possibly damaging	Het
Lgi2	T	C	5: 52,554,549	E143G	probably damaging	Het
Mast1	T	G	8: 84,915,537	I1063L	probably benign	Het
Med12l	T	C	3: 59,093,504		probably benign	Het
Mmp19	G	T	10: 128,798,883	R456L	probably benign	Het
Mon1b	T	A	8: 113,639,078	V346E	probably damaging	Het
Mpv17l	A	T	16: 13,940,999	I96L	probably benign	Het
Mrgpra9	A	T	7: 47,252,794	M1K	probably null	Het
Mycbp2	A	T	14: 103,156,667	H2819Q	probably benign	Het
Nav1	A	C	1: 135,448,917		probably benign	Het
Neurl4	T	C	11: 69,911,733		probably benign	Het
Oas1d	A	T	5: 120,917,028	Y221F	probably damaging	Het
Olfr1040	A	G	2: 86,146,630	Y35H	probably damaging	Het
Olfr348	C	A	2: 36,786,862	D112E	probably benign	Het
Olfr365	A	C	2: 37,202,184		probably null	Het
Osbpl8	A	G	10: 111,272,282	M380V	probably benign	Het
Pank1	T	C	19: 34,821,706		probably benign	Het
Parn	T	C	16: 13,654,476	D169G	possibly damaging	Het
Pknox1	T	A	17: 31,603,192	I311N	probably damaging	Het
Pprc1	T	C	19: 46,062,775	V248A	possibly damaging	Het
Prkcq	T	C	2: 11,254,234	C322R	probably benign	Het
Ptpn13	T	A	5: 103,555,062	I1298N	probably benign	Het
Rab11fip3	A	G	17: 26,069,072	S36P	probably benign	Het
Rif1	GCCACCA	GCCA	2: 52,110,324		probably benign	Het
Sass6	C	A	3: 116,607,308		probably benign	Het
Shroom3	G	A	5: 92,951,293	G1463D	probably benign	Het
Slc35d1	A	T	4: 103,184,887	Y249*	probably null	Het
Slc9a3	C	T	13: 74,121,536	P8S	unknown	Het
Slc9a9	T	A	9: 94,939,563		probably null	Het
Syne2	T	A	12: 75,986,975	M3666K	probably benign	Het
Synpo2	A	G	3: 123,079,897	V1140A	probably benign	Het
Thada	A	G	17: 84,231,096	F1495L	probably benign	Het
Timeless	A	G	10: 128,241,425		probably null	Het
Tlr6	G	T	5: 64,955,205	H120N	possibly damaging	Het
Tmem173	A	G	18: 35,735,111		probably null	Het
Tns3	T	C	11: 8,445,703	I1234V	probably benign	Het
Ttll9	A	G	2: 153,000,179	S318G	probably benign	Het
Vps13c	T	C	9: 67,922,915		probably benign	Het
Zfp933	T	C	4: 147,826,442	I232M	probably benign	Het
Zfyve27	T	C	19: 42,189,585	S382P	probably damaging	Het

Other mutations in Ntng2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R2920:Ntng2	UTSW	2	29204211	missense	probably benign
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

PCR Primer
(F):5'- GCCCTGCTCAGAATGAAGAAGGATG -3'
(R):5'- GGTCTCCTCAGGTGTAAGTGCAAC -3'

Sequencing Primer
(F):5'- CCTGCAACTAGGGCTGAGAG -3'
(R):5'- GCAGGTGCAAGAAGAACTTC -3'

Posted On

2014-07-25