Mutagenetix > Incidental Mutation

Incidental Mutation 'R3941:Neto2'

307449

Institutional Source

Beutler Lab

Gene Symbol

Neto2

Ensembl Gene

ENSMUSG00000036902

Gene Name

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

Synonyms

MMRRC Submission

040923-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.149) question?

Stock #

R3941 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

85636588-85700924 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 85674118 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 16 (T16I)

Ref Sequence

ENSEMBL: ENSMUSP00000148172 (fasta)

Gene Model

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

AlphaFold

Q8BNJ6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000109686
AA Change: T51I

PolyPhen 2 Score 0.792 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000105308
Gene: ENSMUSG00000036902
AA Change: T51I

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 damaging
Transcript: ENSMUST00000209479
AA Change: T16I

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215046

Predicted Effect

probably benign
Transcript: ENSMUST00000216286
AA Change: T16I

PolyPhen 2 Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)

Meta Mutation Damage Score

0.0759

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.3%

Validation Efficiency

98% (55/56)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610203C20Rik	T	C	9: 41,590,274	L143P	probably damaging	Het
Abcc1	A	T	16: 14,396,399	T193S	probably benign	Het
Arhgap11a	A	T	2: 113,836,897	L435Q	probably damaging	Het
Bin1	T	C	18: 32,406,158	V48A	probably damaging	Het
Brinp3	C	A	1: 146,751,861	D277E	probably damaging	Het
Btn1a1	T	G	13: 23,459,264	R338S	probably benign	Het
Cacnb4	C	A	2: 52,469,489	R169L	probably damaging	Het
Ccdc80	A	G	16: 45,096,092	T404A	probably benign	Het
Cd2ap	G	C	17: 42,808,799	H488D	probably damaging	Het
Cdon	A	G	9: 35,464,171	T498A	probably benign	Het
Cngb3	A	G	4: 19,396,786	N380D	probably benign	Het
Col6a5	G	A	9: 105,939,834	S426F	unknown	Het
Cr2	A	T	1: 195,165,814	H345Q	probably damaging	Het
Cttnbp2	T	A	6: 18,427,453	K743M	probably benign	Het
Depdc1b	T	C	13: 108,368,836	S245P	probably damaging	Het
Dync2h1	G	A	9: 7,124,825	H2016Y	probably benign	Het
Eif2s3y	G	T	Y: 1,012,079	R98L	probably benign	Het
Eml6	C	T	11: 29,803,167	G915S	probably damaging	Het
Fcgr1	A	G	3: 96,286,033	L216P	probably benign	Het
Fpr-rs3	T	C	17: 20,624,849	N10S	probably benign	Het
Frem3	T	C	8: 80,615,020	I1314T	possibly damaging	Het
Gabrr3	A	G	16: 59,433,501	N194D	probably damaging	Het
Hey1	A	G	3: 8,664,578	L273P	probably damaging	Het
Irf6	A	G	1: 193,168,549	K365E	probably benign	Het
Kit	A	G	5: 75,609,318	D130G	probably benign	Het
Lrp1	G	A	10: 127,553,396	A3217V	probably damaging	Het
Mei4	C	T	9: 81,927,283	R140C	probably benign	Het
Mpo	A	T	11: 87,797,349	K278M	probably benign	Het
Mprip	T	C	11: 59,731,502		probably benign	Het
Mug2	G	C	6: 122,063,563	G691R	probably benign	Het
Nipal4	C	T	11: 46,150,646	V241M	probably damaging	Het
Nlrp2	A	T	7: 5,327,552	L615*	probably null	Het
Pcdh1	A	G	18: 38,199,458	V164A	probably benign	Het
Phc2	T	C	4: 128,747,244		probably null	Het
Plekhg3	A	G	12: 76,573,359	E623G	probably damaging	Het
Psors1c2	G	T	17: 35,533,928	G29*	probably null	Het
Slc25a54	A	T	3: 109,112,163	D361V	probably damaging	Het
Slc39a12	A	T	2: 14,396,181	H123L	possibly damaging	Het
Sorl1	T	C	9: 41,989,468		probably null	Het
Strn	A	T	17: 78,657,940	I641N	probably damaging	Het
Tapbp	A	G	17: 33,920,483	E151G	possibly damaging	Het
Ticrr	T	C	7: 79,693,697		probably benign	Het
Tnfrsf21	G	A	17: 43,038,010	C171Y	probably damaging	Het
Ttyh1	T	A	7: 4,129,318	L155H	probably damaging	Het
Utrn	T	A	10: 12,711,585		probably null	Het
Vmn1r175	A	G	7: 23,808,968	V78A	probably benign	Het
Vmn1r73	T	C	7: 11,756,755	Y167H	probably damaging	Het
Washc1	T	C	17: 66,118,128	S376P	probably damaging	Het
Wnt10a	T	A	1: 74,803,497		probably null	Het
Xrcc4	A	G	13: 90,071,633	V16A	probably benign	Het
Zeb1	T	C	18: 5,767,799	V770A	probably benign	Het
Zfp410	A	G	12: 84,338,753	N90S	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
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
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'- TAGGTCATTGCAATATTCAAGAACAA -3'
(R):5'- AATGCTGGTGAGGACTGGTG -3'

Sequencing Primer
(F):5'- GCTGTACAATGTGAGACTGCC -3'
(R):5'- AGGACTGGTGATTTTTAAGCCAAG -3'

Posted On

2015-04-17