Mutagenetix > Incidental Mutation

Incidental Mutation 'R6572:Neto2'

526282

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 #

R6572 (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 85670404 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 73 (I73N)

Ref Sequence

ENSEMBL: ENSMUSP00000150062 (fasta)

Gene Model

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

AlphaFold

Q8BNJ6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000109686
AA Change: I108N

PolyPhen 2 Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000105308
Gene: ENSMUSG00000036902
AA Change: I108N

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

possibly damaging
Transcript: ENSMUST00000209479
AA Change: I73N

PolyPhen 2 Score 0.842 (Sensitivity: 0.83; Specificity: 0.93)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215046

Predicted Effect

possibly damaging
Transcript: ENSMUST00000216286
AA Change: I73N

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

Meta Mutation Damage Score

0.6317

Coding Region Coverage

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

Validation Efficiency

97% (62/64)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930447A16Rik	C	T	15: 37,425,717	Q34*	probably null	Het
Adamts3	T	A	5: 89,861,609	H65L	possibly damaging	Het
Ago2	A	G	15: 73,126,977	V257A	probably benign	Het
Ahnak	A	G	19: 9,007,976	K2208R	probably damaging	Het
Apc2	C	T	10: 80,311,779	S860L	probably damaging	Het
Arhgap18	A	G	10: 26,846,416		probably null	Het
Arhgap33	T	C	7: 30,527,210	E524G	probably damaging	Het
Ascc3	C	T	10: 50,690,247	Q763*	probably null	Het
Atg2a	T	C	19: 6,254,665	L1184P	probably damaging	Het
Baiap2l1	A	G	5: 144,286,302	L75P	probably damaging	Het
Btbd17	A	T	11: 114,792,220	L222Q	probably damaging	Het
Chst13	G	T	6: 90,309,606	R125S	probably benign	Het
Cpsf1	CCCCTGCATGAGGCAGGTCCC	CCCC	15: 76,597,455		probably null	Het
Cracr2a	T	C	6: 127,608,752		probably null	Het
Dchs1	T	A	7: 105,758,806	T1940S	possibly damaging	Het
Ddit4l	G	T	3: 137,626,350	R159L	probably benign	Het
Dock3	A	G	9: 106,989,475	Y679H	probably damaging	Het
Dyrk4	T	G	6: 126,897,238	I130L	probably benign	Het
Eml2	T	C	7: 19,196,614	V373A	possibly damaging	Het
Ephb1	A	G	9: 102,066,898	F312L	probably benign	Het
Fam189a2	A	T	19: 23,984,718	M307K	possibly damaging	Het
Fndc9	A	T	11: 46,237,881	I76F	probably damaging	Het
Frk	G	A	10: 34,583,967	R186K	probably benign	Het
Gpatch3	G	T	4: 133,574,880	G41C	probably damaging	Het
Greb1l	T	A	18: 10,522,131	H633Q	probably benign	Het
Gstt4	T	A	10: 75,815,120	T223S	probably damaging	Het
Hpd	C	T	5: 123,180,676	E60K	probably benign	Het
Inpp5d	C	T	1: 87,695,396	P403S	probably damaging	Het
Klk1b9	T	A	7: 43,979,735	I189K	probably benign	Het
Kmt2e	A	T	5: 23,497,581	H239L	possibly damaging	Het
Lrriq3	A	G	3: 155,181,675	D344G	probably benign	Het
Neb	A	G	2: 52,278,847	I1892T	probably damaging	Het
Nipal3	A	T	4: 135,447,253	S396T	probably benign	Het
Olfr395	A	G	11: 73,906,803	S230P	possibly damaging	Het
Olfr638	T	A	7: 103,999,184		probably null	Het
Phf20l1	T	A	15: 66,609,547	V264D	probably damaging	Het
Pigs	A	G	11: 78,339,364	Y319C	probably damaging	Het
Pkd2l2	T	C	18: 34,438,771	Y608H	probably damaging	Het
Ppard	G	T	17: 28,297,119	E106*	probably null	Het
Pramef25	A	G	4: 143,949,692	S281P	probably benign	Het
Pramef6	C	T	4: 143,895,373	V471I	possibly damaging	Het
Psenen	T	C	7: 30,562,348	T48A	probably benign	Het
Ralgps2	A	T	1: 156,824,050		probably null	Het
Ripk4	T	A	16: 97,745,905	R323*	probably null	Het
Rsf1	CG	CGACGGCGGTG	7: 97,579,908		probably benign	Het
Scgb2b24	T	A	7: 33,738,477	E68D	probably damaging	Het
Setx	A	G	2: 29,173,694	D2334G	possibly damaging	Het
Sh3bp4	A	G	1: 89,144,921	D497G	possibly damaging	Het
Smarca2	A	T	19: 26,679,173	I850F	possibly damaging	Het
Smyd1	A	G	6: 71,225,412	Y270H	probably damaging	Het
Spidr	T	A	16: 15,912,516		probably null	Het
Srms	T	C	2: 181,212,657	D39G	probably benign	Het
Trpc2	T	A	7: 102,090,006	I528N	probably damaging	Het
Tshr	A	G	12: 91,538,360	I691V	probably benign	Het
Urb1	A	C	16: 90,787,414	V560G	probably benign	Het
Usp37	A	G	1: 74,495,782	S2P	possibly damaging	Het
Vmn1r60	G	A	7: 5,544,600	S167F	probably benign	Het
Vmn2r89	G	A	14: 51,455,993	V267I	probably damaging	Het
Washc3	T	A	10: 88,213,706	D63E	probably benign	Het
Wdr89	A	G	12: 75,633,385	S32P	probably damaging	Het
Zfp157	T	C	5: 138,457,051	S504P	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
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'- CATGTGCAAAGGCCCAGTAAG -3'
(R):5'- GCAACAGAGTAGGCAATTGTTTTAG -3'

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

Posted On

2018-06-22