Mutagenetix > Incidental Mutation

Incidental Mutation 'R6950:Neto2'

541216

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: 0.140) question?

Stock #

R6950 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

85636588-85700924 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 85670443 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Glutamine at position 60 (P60Q)

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: P95Q

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

SMART Domains

Protein: ENSMUSP00000105308
Gene: ENSMUSG00000036902
AA Change: P95Q

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: P60Q

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000216286
AA Change: P60Q

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

Meta Mutation Damage Score

0.9651

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.4%

Validation Efficiency

98% (59/60)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc1	T	A	16: 14,411,616	V404D	probably damaging	Het
Adcy2	A	G	13: 68,888,065	M159T	possibly damaging	Het
Agtpbp1	T	C	13: 59,450,266	K674R	probably benign	Het
Atxn7	C	A	14: 14,095,511	P403H	probably damaging	Het
Cav3	C	T	6: 112,472,210	T63I	probably damaging	Het
Ccr6	T	C	17: 8,257,066	*368Q	probably null	Het
Cdh8	A	T	8: 99,030,763	N734K	probably benign	Het
Ces5a	G	T	8: 93,530,774	N134K	probably benign	Het
Cisd3	T	G	11: 97,686,160		probably null	Het
Cyp4f39	T	G	17: 32,492,306	C476G	probably damaging	Het
Dffb	A	T	4: 153,970,092	M180K	probably benign	Het
Dock4	A	G	12: 40,733,314	E749G	possibly damaging	Het
Eogt	A	G	6: 97,134,382	F173L	possibly damaging	Het
Ephb1	T	A	9: 102,194,909	T224S	probably benign	Het
Fam114a1	A	T	5: 64,979,979	E88D	possibly damaging	Het
Fam84b	T	C	15: 60,823,714	D61G	probably benign	Het
Fbn2	A	C	18: 58,035,921	M2262R	probably null	Het
Fsip2	A	G	2: 82,985,988	I4022V	probably benign	Het
Gapvd1	A	G	2: 34,684,245	V1301A	probably benign	Het
Gch1	A	T	14: 47,189,266	M1K	probably null	Het
Hes1	T	C	16: 30,067,271	F231S	probably damaging	Het
Hoxb2	A	G	11: 96,351,901	T31A	probably benign	Het
Ifngr1	T	A	10: 19,607,293	V265D	probably damaging	Het
Ifnl3	A	T	7: 28,523,007	I58F	probably benign	Het
Igf2r	T	C	17: 12,718,718	T561A	probably benign	Het
Igfbpl1	T	A	4: 45,815,494	H214L	probably damaging	Het
Irf8	A	G	8: 120,755,125	T318A	probably benign	Het
Kmt2d	T	C	15: 98,840,020		probably benign	Het
Lrrc36	G	T	8: 105,425,389		probably null	Het
Msl2	C	T	9: 101,101,975	P516L	possibly damaging	Het
Naaladl1	A	T	19: 6,105,981	I62F	probably damaging	Het
Nipsnap3b	A	T	4: 53,015,136	H61L	possibly damaging	Het
Npb	T	C	11: 120,608,647	F47L	probably benign	Het
Nutm1	T	A	2: 112,248,559	T1004S	probably benign	Het
Olfr1251	T	A	2: 89,667,551	I112F	probably benign	Het
Olfr1427	A	G	19: 12,099,390	V83A	probably benign	Het
Olfr895	A	T	9: 38,268,546	N3I	probably damaging	Het
Oxr1	C	A	15: 41,820,555	A439E	probably benign	Het
Phf14	A	T	6: 12,006,855	K835N	probably damaging	Het
Prkdc	T	A	16: 15,815,986	V3518E	probably damaging	Het
Ptpru	T	A	4: 131,776,352	E1132D	probably damaging	Het
Rapgef6	T	A	11: 54,676,380	M1129K	probably benign	Het
Rgmb	T	C	17: 15,807,786	K224E	probably damaging	Het
Ryr3	T	C	2: 112,686,825	I3318V	possibly damaging	Het
Slc9a4	A	G	1: 40,602,885	Y338C	probably damaging	Het
Smg5	T	C	3: 88,349,269		probably null	Het
Tenm3	A	T	8: 48,240,479	Y1789*	probably null	Het
Tgm7	T	C	2: 121,093,647	E598G	probably damaging	Het
Tiam1	C	T	16: 89,860,204		probably null	Het
Tmem175	A	G	5: 108,643,082	N166S	probably benign	Het
Trp73	G	T	4: 154,062,053	N368K	probably benign	Het
Trpc3	C	T	3: 36,638,590	R751H	probably damaging	Het
Trpm4	C	A	7: 45,319,280	A410S	probably damaging	Het
Ube2t	T	G	1: 134,971,357		probably null	Het
Vmn2r114	C	T	17: 23,310,163	A322T	probably benign	Het
Xylt2	C	T	11: 94,667,629	R567H	probably benign	Het
Zfp119b	T	C	17: 55,939,137	K318E	probably damaging	Het
Zfp626	T	G	7: 27,818,914	L440R	probably damaging	Het
Zfp850	A	G	7: 27,990,514	S90P	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
R6881:Neto2	UTSW	8	85640556	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'- AGGCCCAGTAAGTACATCAGTG -3'
(R):5'- CAGAGTAGGCAATTGTTTTAGAGTG -3'

Sequencing Primer
(F):5'- AGACATCCCTTATCAGAGACGTTTC -3'
(R):5'- AATTGTTTTAGAGTGTTGGAGGAAAG -3'

Posted On

2018-11-28