Mutagenetix > Incidental Mutation

Incidental Mutation 'R7755:Neto2'

597500

Institutional Source

Beutler Lab

Gene Symbol

Neto2

Ensembl Gene

ENSMUSG00000036902

Gene Name

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

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.166) question?

Stock #

R7755 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

85636588-85700924 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 85669656 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 155 (R155H)

Ref Sequence

ENSEMBL: ENSMUSP00000105308 (fasta)

Gene Model

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

AlphaFold

Q8BNJ6

Predicted Effect

probably damaging
Transcript: ENSMUST00000109686
AA Change: R155H

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

SMART Domains

Protein: ENSMUSP00000105308
Gene: ENSMUSG00000036902
AA Change: R155H

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

probably damaging
Transcript: ENSMUST00000209479
AA Change: R120H

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000216286
AA Change: R120H

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

Meta Mutation Damage Score

0.5514

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

98% (52/53)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	G	A	12: 71,189,413	M1179I	probably benign	Het
4930402F06Rik	T	C	2: 35,376,337	Y107C	probably damaging	Het
Aff4	T	C	11: 53,398,379	S452P	probably damaging	Het
Astn2	T	C	4: 65,794,558	D615G	probably damaging	Het
Begain	A	G	12: 109,052,876	L215P	probably benign	Het
Carf	T	A	1: 60,148,055	S606T	probably benign	Het
Cngb3	A	T	4: 19,461,684	T522S	probably benign	Het
Ctsll3	A	T	13: 60,800,405	F153I	probably damaging	Het
Cubn	G	A	2: 13,280,078	T3509I	probably benign	Het
Dmrta1	T	C	4: 89,691,933	S377P	probably benign	Het
Dnmbp	G	A	19: 43,850,086	A659V	probably benign	Het
Dspp	TGACAGCAGTGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAGCGACAGCAGCAACAGCAGTGACAGCAG	TGACAGCAGTGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAGCGACAGCAGCAACAGCAGTGACAGCAG	5: 104,178,361		probably benign	Het
Dync2h1	T	C	9: 7,015,490	D3598G	probably benign	Het
Fam35a	T	C	14: 34,248,890	K627E	probably damaging	Het
Flot2	T	C	11: 78,049,513	F29L	probably benign	Het
Hectd1	A	T	12: 51,802,220	I367K	possibly damaging	Het
Ikbkap	T	C	4: 56,774,552	N779S	possibly damaging	Het
Ivl	T	A	3: 92,572,010	K249N	probably damaging	Het
Kdelc1	T	C	1: 44,118,573		probably benign	Het
Khnyn	A	G	14: 55,887,968	T503A	probably damaging	Het
Mbd4	T	A	6: 115,844,585	I490F	probably damaging	Het
Mlip	T	C	9: 77,229,556	T690A	probably benign	Het
Mmp1a	T	A	9: 7,467,004	D227E	possibly damaging	Het
Mrgprf	T	C	7: 145,308,643	L314P	probably damaging	Het
Ndufb9	T	G	15: 58,936,406	Y80*	probably null	Het
Npat	T	A	9: 53,559,170	N365K	possibly damaging	Het
Nsl1	G	A	1: 191,063,183	V49M	probably benign	Het
Nudt21	T	A	8: 94,022,865	Y191F	probably benign	Het
Olfr225	A	G	11: 59,613,641	R226G	probably damaging	Het
Olfr921	T	G	9: 38,775,777	I174S	possibly damaging	Het
Pcdh18	T	C	3: 49,754,829	Y679C	possibly damaging	Het
Pkd1l3	A	G	8: 109,630,166	D741G	possibly damaging	Het
Pkhd1	T	C	1: 20,547,493	D956G	probably damaging	Het
Pparg	C	T	6: 115,463,106	P214S	probably damaging	Het
Ppargc1a	T	A	5: 51,473,541	Y582F	unknown	Het
Prdm9	C	T	17: 15,544,964	C518Y	probably damaging	Het
Rangrf	T	A	11: 68,973,714	E2V	probably damaging	Het
Rpl19	T	C	11: 98,028,367	I45T	probably benign	Het
Rtn4rl2	T	C	2: 84,872,463	D255G	possibly damaging	Het
Sirt3	T	C	7: 140,878,050	D62G		Het
Slc22a30	T	C	19: 8,336,769	T518A	probably damaging	Het
Slc40a1	T	C	1: 45,911,306	T329A	probably damaging	Het
Slc6a17	C	T	3: 107,474,355	G470D	probably damaging	Het
Syne2	A	T	12: 75,997,407	I3923L	probably benign	Het
Tiam2	C	T	17: 3,421,316	S411L	probably benign	Het
Ticam1	A	G	17: 56,270,182	C638R	unknown	Het
Tnrc6c	A	G	11: 117,758,086	T1528A	probably benign	Het
Ufl1	A	G	4: 25,262,274	I404T	probably benign	Het
Usp43	A	T	11: 67,891,468	S375T	possibly damaging	Het
Vmn2r88	C	G	14: 51,413,046	A72G	probably benign	Het
Vmn2r91	A	T	17: 18,110,049	I532F	possibly damaging	Het
Vmn2r95	T	C	17: 18,424,105	M1T	probably null	Het
Xirp2	T	C	2: 67,515,182	V2589A	probably benign	Het
Zfp128	C	T	7: 12,890,313	Q203*	probably null	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
R5459:Neto2	UTSW	8	85670483	missense	probably benign	0.35
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
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'- GAATGGTATATGGCCTATTGTTCC -3'
(R):5'- GTTCCCAGTGTAATTCTCTGATATG -3'

Sequencing Primer
(F):5'- TACTGGGAATTGAACTCAGGACCTC -3'
(R):5'- GCACTAAAGAGGTGGATTTGTTTATC -3'

Posted On

2019-11-26