Mutagenetix > Incidental Mutations

Incidental Mutation 'R6881:Neto2'

536667

Institutional Source

Beutler Lab

Gene Symbol

Neto2

Ensembl Gene

ENSMUSG00000036902

Gene Name

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

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

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

Stock #

R6881 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

85636588-85700924 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 85640556 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 520 (S520T)

Ref Sequence

ENSEMBL: ENSMUSP00000150062 (fasta)

Gene Model

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

AlphaFold

Q8BNJ6

Predicted Effect

probably damaging
Transcript: ENSMUST00000109686
AA Change: S548T

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000105308
Gene: ENSMUSG00000036902
AA Change: S548T

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: S513T

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

Predicted Effect

probably damaging
Transcript: ENSMUST00000216286
AA Change: S520T

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.2%

Validation Efficiency

98% (53/54)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1500009C09Rik	C	A	15: 82,259,585	H3N	possibly damaging	Het
4931406C07Rik	A	C	9: 15,290,765	C187G	possibly damaging	Het
Abhd16a	C	T	17: 35,096,601	T208I	probably benign	Het
Ahcyl1	A	T	3: 107,668,109	H425Q	probably damaging	Het
Ankrd22	T	A	19: 34,149,382	N16I	probably damaging	Het
Cc2d2b	A	G	19: 40,825,039	E1321G	probably damaging	Het
Ccdc7b	A	G	8: 129,072,547	E35G	probably damaging	Het
Chsy3	A	G	18: 59,179,408	I318V	probably damaging	Het
Clrn2	G	A	5: 45,453,822	W4*	probably null	Het
Cmip	T	C	8: 117,436,595	I355T	possibly damaging	Het
Cmya5	C	T	13: 93,090,292	V2763M	probably damaging	Het
Cnnm2	T	C	19: 46,877,219	S749P	probably damaging	Het
Cyp1a1	G	T	9: 57,700,719	R210L	possibly damaging	Het
Dmxl1	G	A	18: 49,935,305	S2715N	probably benign	Het
Dync1h1	T	C	12: 110,624,561	L1021P	probably damaging	Het
Ecm2	C	T	13: 49,530,342	Q599*	probably null	Het
Galnt11	G	T	5: 25,250,099	K144N	possibly damaging	Het
Gm45861	A	G	8: 27,535,251		probably null	Het
Kcnk18	T	A	19: 59,219,958	D75E	probably benign	Het
Kcnk2	C	T	1: 189,209,990	V346M	probably benign	Het
Klhl33	T	A	14: 50,891,472	M767L	probably benign	Het
Knl1	T	C	2: 119,095,184	I1898T	possibly damaging	Het
Lama5	G	A	2: 180,191,662	P1519L	probably damaging	Het
Lamp3	T	C	16: 19,699,618	T290A	probably benign	Het
Larp1	T	A	11: 58,050,023	D658E	probably damaging	Het
Macf1	T	A	4: 123,432,453	I3521F	probably damaging	Het
Med12l	T	C	3: 59,267,165	S1835P	probably benign	Het
Mef2c	C	A	13: 83,592,942	N73K	probably damaging	Het
Mtmr3	T	C	11: 4,489,725	S572G	probably benign	Het
Olfr1215	A	T	2: 89,001,937	M117K	probably damaging	Het
Olfr1330	A	G	4: 118,893,107	N8S	probably damaging	Het
Olfr99	A	G	17: 37,280,309	L37S	probably benign	Het
P3h2	G	A	16: 25,992,745	R243C	probably damaging	Het
Papd5	T	C	8: 88,250,788	V363A	possibly damaging	Het
Pld1	T	C	3: 28,078,414	S584P	possibly damaging	Het
Prkcz	T	C	4: 155,269,056	N278S	possibly damaging	Het
Radil	A	G	5: 142,486,917	S913P	probably benign	Het
Retreg2	A	C	1: 75,146,439	Q337P	probably damaging	Het
Sh3gl3	A	G	7: 82,306,970	E305G	possibly damaging	Het
Shank1	G	T	7: 44,351,793	D979Y	unknown	Het
Slc35a5	A	T	16: 45,144,080	N263K	possibly damaging	Het
Slc4a7	A	T	14: 14,737,452	M127L	probably benign	Het
Slc8a2	G	A	7: 16,157,357	G774E	probably damaging	Het
Snap91	A	G	9: 86,773,593	S847P	possibly damaging	Het
Stoml1	T	C	9: 58,260,894	L296P	probably damaging	Het
Tap1	G	T	17: 34,188,034	G52V	probably damaging	Het
Tnfrsf11b	T	C	15: 54,254,143	R239G	probably benign	Het
Ttn	T	C	2: 76,706,502	Y34993C	probably damaging	Het
Uchl1	T	C	5: 66,683,722	F165L	probably damaging	Het
Xrcc1	C	T	7: 24,547,351	Q15*	probably null	Het
Zkscan7	C	G	9: 122,888,701	Q54E	possibly 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
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
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'- AGCAACAGATGATGCCTTCTTTC -3'
(R):5'- TGATTTTGCACAACCACAGCC -3'

Sequencing Primer
(F):5'- AACAGATGATGCCTTCTTTCCACTG -3'
(R):5'- GCCAATGAAAACATTTAATAGCACC -3'

Posted On

2018-10-18