Mutagenetix > Incidental Mutation

Incidental Mutation 'R5459:Neto2'

432930

Institutional Source

Beutler Lab

Gene Symbol

Neto2

Ensembl Gene

ENSMUSG00000036902

Gene Name

neuropilin (NRP) and tolloid (TLL)-like 2

Synonyms

MMRRC Submission

043022-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.193) question?

Stock #

R5459 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

85636588-85700924 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 85670483 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 47 (I47F)

Ref Sequence

ENSEMBL: ENSMUSP00000150062 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000109686] [ENSMUST00000209479] [ENSMUST00000216286]

AlphaFold

Q8BNJ6

Predicted Effect

probably benign
Transcript: ENSMUST00000109686
AA Change: I82F

PolyPhen 2 Score 0.312 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000105308
Gene: ENSMUSG00000036902
AA Change: I82F

Domain	Start	End	E-Value	Type
transmembrane domain	38	60	N/A	INTRINSIC
CUB	80	194	2.56e-40	SMART
CUB	205	320	9.11e-5	SMART
LDLa	324	361	5.73e-5	SMART
transmembrane domain	374	396	N/A	INTRINSIC
coiled coil region	432	460	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209259

Predicted Effect

probably benign
Transcript: ENSMUST00000209479
AA Change: I47F

PolyPhen 2 Score 0.182 (Sensitivity: 0.92; Specificity: 0.87)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215046

Predicted Effect

probably benign
Transcript: ENSMUST00000216286
AA Change: I47F

PolyPhen 2 Score 0.349 (Sensitivity: 0.90; Specificity: 0.89)

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a predicted transmembrane protein containing two extracellular CUB domains followed by a low-density lipoprotein class A (LDLa) domain. A similar gene in rats encodes a protein that modulates glutamate signaling in the brain by regulating kainate receptor function. Expression of this gene may be a biomarker for proliferating infantile hemangiomas. A pseudogene of this gene is located on the long arm of chromosome 8. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011]
PHENOTYPE: Mice homozygous for a null mutation show normal brain morphology and kainate receptor mediated excitatory postsynaptic currents. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1520401A03Rik	C	T	17: 23,711,843		probably benign	Het
2300002M23Rik	A	G	17: 35,568,182	E139G	possibly damaging	Het
4931408C20Rik	A	C	1: 26,685,191	S303A	probably damaging	Het
Abcc6	T	C	7: 45,982,183	N1223S	probably benign	Het
Adamts3	A	T	5: 89,691,473		probably null	Het
Aloxe3	T	A	11: 69,132,828	F259Y	possibly damaging	Het
Armc9	G	A	1: 86,207,972	R550Q	probably damaging	Het
Ctnnd2	A	G	15: 30,887,188	D787G	probably damaging	Het
Dnah7b	A	G	1: 46,109,312	I283V	probably null	Het
Ebf2	A	G	14: 67,235,201	M23V	probably benign	Het
Fbxw11	T	C	11: 32,739,191	V438A	possibly damaging	Het
Fcrla	G	A	1: 170,918,169	T348M	possibly damaging	Het
Gpr179	A	T	11: 97,336,657	H1557Q	probably benign	Het
Gpr87	A	G	3: 59,179,727	V119A	possibly damaging	Het
Hfm1	A	G	5: 106,904,763	S285P	probably damaging	Het
Hs3st5	T	C	10: 36,828,746	V15A	possibly damaging	Het
Hyal5	C	T	6: 24,891,251	H355Y	probably damaging	Het
Klk14	G	A	7: 43,692,077	C51Y	probably damaging	Het
Map4k3	T	A	17: 80,609,787	N587Y	probably damaging	Het
Mcm3ap	T	A	10: 76,496,482	L1211*	probably null	Het
Mcmdc2	A	G	1: 9,937,084	I620V	probably benign	Het
Micalcl	C	T	7: 112,382,237	H539Y	probably benign	Het
Myo9a	T	C	9: 59,884,520	L1802P	probably damaging	Het
Olfr1443	A	G	19: 12,680,435	E109G	probably damaging	Het
Oog3	G	A	4: 144,159,245	T261I	probably benign	Het
Pdilt	A	G	7: 119,486,935	L519P	probably benign	Het
Pnpla6	A	T	8: 3,535,829	M844L	probably benign	Het
Polk	C	T	13: 96,495,476	G250R	probably damaging	Het
Rasal2	A	G	1: 157,157,661	S839P	probably damaging	Het
Siae	T	C	9: 37,616,823	Y31H	probably damaging	Het
Slc27a2	T	C	2: 126,580,992	V379A	probably damaging	Het
Snx9	C	T	17: 5,920,638	T418M	probably damaging	Het
Srp72	A	G	5: 76,984,338	T258A	probably benign	Het
Tango6	T	A	8: 106,850,289	D1058E	probably damaging	Het
Tecpr1	T	A	5: 144,207,416	Y656F	probably damaging	Het
Tnik	T	A	3: 28,661,741	I1168K	probably damaging	Het
Togaram1	A	G	12: 64,967,736	E587G	probably damaging	Het
Tyw1	A	C	5: 130,274,706	D305A	probably damaging	Het
Vmn1r19	T	A	6: 57,404,490	Y9*	probably null	Het
Zkscan3	A	T	13: 21,394,812	V142E	probably damaging	Het

Other mutations in Neto2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01705:Neto2	APN	8	85641003	missense	probably damaging	1.00
IGL01938:Neto2	APN	8	85690855	missense	probably benign	0.00
IGL02238:Neto2	APN	8	85669663	missense	probably damaging	0.99
IGL02605:Neto2	APN	8	85663435	splice site	probably benign
IGL02813:Neto2	APN	8	85690886	missense	probably benign
R0138:Neto2	UTSW	8	85641044	missense	possibly damaging	0.72
R1934:Neto2	UTSW	8	85670404	missense	possibly damaging	0.96
R2402:Neto2	UTSW	8	85690912	missense	probably benign	0.00
R2423:Neto2	UTSW	8	85669767	missense	probably damaging	1.00
R3821:Neto2	UTSW	8	85663295	nonsense	probably null
R3822:Neto2	UTSW	8	85663295	nonsense	probably null
R3883:Neto2	UTSW	8	85663265	missense	probably damaging	1.00
R3939:Neto2	UTSW	8	85674118	missense	probably damaging	0.99
R3940:Neto2	UTSW	8	85674118	missense	probably damaging	0.99
R3941:Neto2	UTSW	8	85674118	missense	probably damaging	0.99
R4433:Neto2	UTSW	8	85641083	missense	probably damaging	1.00
R4668:Neto2	UTSW	8	85641062	missense	probably damaging	1.00
R4675:Neto2	UTSW	8	85669704	missense	probably damaging	1.00
R4908:Neto2	UTSW	8	85669764	missense	probably damaging	0.99
R5471:Neto2	UTSW	8	85640760	missense	probably benign	0.41
R5544:Neto2	UTSW	8	85647877	missense	possibly damaging	0.94
R5571:Neto2	UTSW	8	85640544	missense	probably damaging	1.00
R6083:Neto2	UTSW	8	85640585	missense	probably benign	0.00
R6339:Neto2	UTSW	8	85640558	missense	probably benign	0.33
R6381:Neto2	UTSW	8	85642509	missense	probably damaging	0.99
R6572:Neto2	UTSW	8	85670404	missense	possibly damaging	0.96
R6593:Neto2	UTSW	8	85669546	missense	probably damaging	1.00
R6662:Neto2	UTSW	8	85663215	missense	probably damaging	1.00
R6881:Neto2	UTSW	8	85640556	missense	probably damaging	1.00
R6950:Neto2	UTSW	8	85670443	missense	probably damaging	1.00
R7121:Neto2	UTSW	8	85670391	splice site	probably null
R7754:Neto2	UTSW	8	85669700	missense	probably damaging	0.98
R7755:Neto2	UTSW	8	85669656	missense	probably damaging	1.00
R8682:Neto2	UTSW	8	85640666	missense	probably benign	0.01
R9326:Neto2	UTSW	8	85642434	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTTCCAACTTGTTTAAACAGGGC -3'
(R):5'- AAAAGCTTTCTGGTACTTCTGCTGTAC -3'

Sequencing Primer
(F):5'- AACAGGGCATTTTGCTAATGTG -3'
(R):5'- ACTTCTGCTGTACTCAGTTGG -3'

Posted On

2016-10-06