Mutagenetix > Incidental Mutation

Incidental Mutation 'R5471:Neto2'

433819

Institutional Source

Beutler Lab

Gene Symbol

Neto2

Ensembl Gene

ENSMUSG00000036902

Gene Name

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

Synonyms

MMRRC Submission

043032-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.193) question?

Stock #

R5471 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

85636588-85700924 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 85640760 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 480 (T480A)

Ref Sequence

ENSEMBL: ENSMUSP00000105308 (fasta)

Gene Model

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

AlphaFold

Q8BNJ6

Predicted Effect

probably benign
Transcript: ENSMUST00000109686
AA Change: T480A

PolyPhen 2 Score 0.413 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000105308
Gene: ENSMUSG00000036902
AA Change: T480A

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 benign
Transcript: ENSMUST00000209479
AA Change: T445A

PolyPhen 2 Score 0.186 (Sensitivity: 0.92; Specificity: 0.87)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215046

Predicted Effect

probably benign
Transcript: ENSMUST00000216286
AA Change: T452A

PolyPhen 2 Score 0.198 (Sensitivity: 0.92; Specificity: 0.88)

Meta Mutation Damage Score

0.0705

Coding Region Coverage

1x: 98.2%
3x: 97.3%
10x: 95.1%
20x: 90.5%

Validation Efficiency

96% (67/70)

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
Acsm1	C	T	7: 119,660,606	H493Y	probably damaging	Het
Alox12e	T	C	11: 70,320,024	I290V	probably benign	Het
Ankfy1	T	A	11: 72,728,791	N163K	probably benign	Het
Baiap2l1	T	G	5: 144,282,141	N219T	probably benign	Het
Cd72	T	C	4: 43,448,345	I312V	probably benign	Het
Cfap54	A	T	10: 93,028,660	M139K	probably damaging	Het
Clec4n	T	A	6: 123,232,186	M70K	probably benign	Het
Cwh43	T	A	5: 73,408,231	C46*	probably null	Het
Cyp1a2	A	T	9: 57,679,020	I405N	probably damaging	Het
Dlc1	G	T	8: 36,584,725	S617R	probably benign	Het
Eif2ak4	A	G	2: 118,474,132	N1546S	probably benign	Het
Elmo1	A	G	13: 20,572,385	I548V	probably benign	Het
Exoc6	A	G	19: 37,599,617	D566G	probably benign	Het
Fam20b	T	C	1: 156,705,729	T106A	probably damaging	Het
Fam83h	T	C	15: 76,002,903	T862A	probably benign	Het
Fgfr1op2	A	T	6: 146,597,362		probably null	Het
Gcnt2	A	G	13: 40,860,719	Y122C	probably damaging	Het
Gm11992	A	T	11: 9,068,333		probably null	Het
Gm15922	T	A	7: 3,735,515	I621F	probably benign	Het
Gm5114	C	A	7: 39,409,110	E362*	probably null	Het
Gm815	A	G	19: 26,888,369	T96A	unknown	Het
Gm8674	A	G	13: 49,900,813		noncoding transcript	Het
Gnat3	T	A	5: 17,991,324	I56N	probably damaging	Het
Gpr1	A	C	1: 63,183,899	V59G	probably damaging	Het
Igkv1-133	T	C	6: 67,725,547	V83A	probably benign	Het
Mrgprb8	T	A	7: 48,388,723	N47K	probably damaging	Het
Nav2	A	G	7: 49,548,169	D1182G	probably damaging	Het
Npnt	T	G	3: 132,914,387	N115T	probably benign	Het
Nr1h5	T	C	3: 102,949,126	N279S	possibly damaging	Het
Ntrk2	T	C	13: 58,871,760	V395A	probably benign	Het
Olfr205	T	G	16: 59,328,631	N293H	probably damaging	Het
Olfr319	T	C	11: 58,702,325	L208S	probably damaging	Het
Olfr802	A	G	10: 129,682,056	S228P	probably damaging	Het
Padi2	A	G	4: 140,933,208	K333R	possibly damaging	Het
Ptgis	C	A	2: 167,224,119	M130I	probably benign	Het
Ptpn4	A	T	1: 119,765,919	Y124*	probably null	Het
Saal1	C	T	7: 46,699,648	V281M	probably benign	Het
Saxo1	G	A	4: 86,445,724	T174I	probably damaging	Het
Slc7a12	G	A	3: 14,480,875	V27M	probably damaging	Het
Slco4c1	C	A	1: 96,872,045	R22L	probably benign	Het
Slfn9	T	G	11: 82,982,787	Q430P	possibly damaging	Het
Slit2	T	A	5: 48,189,555	N246K	probably damaging	Het
Stox2	G	T	8: 47,193,513	T304K	probably damaging	Het
Tmem87b	T	G	2: 128,851,320	F542V	possibly damaging	Het
Topaz1	T	G	9: 122,791,416		probably null	Het
Trappc12	G	A	12: 28,691,500	R737W	probably damaging	Het
Trim9	A	G	12: 70,346,792	I126T	possibly damaging	Het
Txnl1	A	G	18: 63,676,926	C149R	probably damaging	Het
Ubald1	G	A	16: 4,875,841	T70M	probably damaging	Het
Vash1	G	A	12: 86,689,128	V263M	possibly damaging	Het
Vsx1	T	C	2: 150,683,066	T343A	probably benign	Het
Zfp397	A	G	18: 23,960,024	N189D	probably benign	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
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'- GCCCTCTGACATAAATTTCACAGG -3'
(R):5'- GGTTATGGCTTGCAAAACTGC -3'

Sequencing Primer
(F):5'- TAAATTTCACAGGGAATCTCCTCC -3'
(R):5'- GGTTCCAGGAAGTATTTGATCCTCC -3'

Posted On

2016-10-06