Mutagenetix > Incidental Mutation

Incidental Mutation 'R6339:Neto2'

513822

Institutional Source

Beutler Lab

Gene Symbol

Neto2

Ensembl Gene

ENSMUSG00000036902

Gene Name

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

Synonyms

MMRRC Submission

044493-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.183) question?

Stock #

R6339 (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 85640558 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glutamic Acid at position 547 (A547E)

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: A547E

PolyPhen 2 Score 0.334 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000105308
Gene: ENSMUSG00000036902
AA Change: A547E

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: A512E

PolyPhen 2 Score 0.103 (Sensitivity: 0.93; Specificity: 0.86)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215046

Predicted Effect

probably benign
Transcript: ENSMUST00000216286
AA Change: A519E

PolyPhen 2 Score 0.116 (Sensitivity: 0.93; Specificity: 0.86)

Coding Region Coverage

1x: 100.0%
3x: 99.7%
10x: 98.2%
20x: 94.1%

Validation Efficiency

97% (69/71)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931408C20Rik	T	A	1: 26,682,505	D1198V	probably benign	Het
4933424G06Rik	A	T	1: 36,710,461		probably benign	Het
Adgrg6	G	T	10: 14,434,347	S743R	probably damaging	Het
Ak8	A	G	2: 28,734,448		probably null	Het
Alpk2	A	G	18: 65,349,806	M377T	probably benign	Het
Ap1g1	G	A	8: 109,844,368	V425I	possibly damaging	Het
Apob	A	T	12: 8,016,188	R4353W	probably damaging	Het
Arhgef38	T	C	3: 133,133,662	K540R	probably benign	Het
AY761184	G	A	8: 21,703,469	S45F	possibly damaging	Het
B3galt2	A	T	1: 143,646,902	T259S	possibly damaging	Het
Btbd8	G	A	5: 107,503,717	V159I	probably benign	Het
C2cd2l	T	C	9: 44,313,491		probably benign	Het
Carmil3	T	C	14: 55,499,849	V763A	possibly damaging	Het
Ccdc171	A	T	4: 83,742,997	T1115S	probably damaging	Het
Chst2	C	T	9: 95,405,750	G181D	probably damaging	Het
Col7a1	C	T	9: 108,956,633	T390M	unknown	Het
Cpt1a	A	C	19: 3,362,152	D208A	probably benign	Het
Crocc2	A	G	1: 93,214,032	E1183G	probably benign	Het
Dlg5	T	A	14: 24,158,060	H1003L	probably damaging	Het
Dok2	A	T	14: 70,775,718	I109L	probably benign	Het
Dpy19l4	A	T	4: 11,285,111	I465K	probably damaging	Het
Dync1h1	A	T	12: 110,646,205	D2838V	probably damaging	Het
Frem3	A	G	8: 80,613,015	R646G	possibly damaging	Het
Gcfc2	T	A	6: 81,946,496	F514I	probably damaging	Het
Gm8104	T	C	14: 43,101,485	M44T	probably benign	Het
Golph3l	T	A	3: 95,617,439	W334R	probably damaging	Het
Gpr179	A	T	11: 97,344,176	F443I	probably damaging	Het
Ift172	A	G	5: 31,256,583	V1467A	probably benign	Het
Ift172	A	T	5: 31,286,945	D44E	probably damaging	Het
Il1rl1	C	T	1: 40,461,856	A464V	possibly damaging	Het
Irx5	A	G	8: 92,359,853	E188G	probably damaging	Het
Jak1	A	G	4: 101,161,926	V710A	probably damaging	Het
Kcng4	A	T	8: 119,632,954	F228I	probably damaging	Het
Lifr	A	G	15: 7,167,049	N238S	probably benign	Het
Ltbp3	C	A	19: 5,747,477	H414Q	probably damaging	Het
Mcpt8	A	G	14: 56,082,337	C219R	probably benign	Het
Mepce	A	T	5: 137,785,688	N125K	possibly damaging	Het
Mfap3	T	C	11: 57,529,772	F193S	probably damaging	Het
Miox	T	A	15: 89,335,499	Y63*	probably null	Het
Msl2	A	T	9: 101,101,750	H441L	probably benign	Het
Nemp2	T	A	1: 52,640,910	S98T	possibly damaging	Het
Nol12	T	C	15: 78,940,833		probably benign	Het
Npr3	T	C	15: 11,845,275	I504V	probably damaging	Het
Olfr1204	A	G	2: 88,852,871	D307G	probably null	Het
Pcdhb3	T	C	18: 37,300,945		probably benign	Het
Pear1	C	A	3: 87,752,520	G720W	probably damaging	Het
Pibf1	T	G	14: 99,107,398	D151E	probably damaging	Het
Pla2g6	T	A	15: 79,308,816	N217I	probably damaging	Het
Plcd1	G	A	9: 119,074,991	R292C	probably damaging	Het
Plcl1	C	T	1: 55,696,315	L272F	probably damaging	Het
Ppp4r4	A	T	12: 103,604,969	K656*	probably null	Het
Prr22	G	A	17: 56,771,490	M214I	probably benign	Het
Ror1	G	T	4: 100,411,931	R322L	possibly damaging	Het
Sh3tc2	G	A	18: 61,975,571	W244*	probably null	Het
Slamf6	A	G	1: 171,948,048	N320S	probably null	Het
Slc1a6	A	C	10: 78,800,085	D328A	possibly damaging	Het
Sorl1	G	T	9: 41,969,742	T2161K	probably benign	Het
Sstr2	T	C	11: 113,624,549	F98S	probably damaging	Het
Stk33	A	T	7: 109,321,465	D348E	probably benign	Het
Sulf1	T	A	1: 12,838,440	L559Q	probably damaging	Het
Syne2	A	G	12: 75,989,153	D3738G	probably benign	Het
Taok3	A	T	5: 117,228,030	Q382L	probably benign	Het
Tet2	T	A	3: 133,486,417	H752L	possibly damaging	Het
Tia1	A	C	6: 86,426,656	K285T	probably damaging	Het
Tle3	G	T	9: 61,401,924		probably null	Het
Top1mt	T	C	15: 75,665,656	T414A	possibly damaging	Het
Ubc	A	T	5: 125,387,342	I307N	probably damaging	Het
Vmn2r96	A	T	17: 18,583,862	D266V	possibly damaging	Het
Wbp2nl	G	T	15: 82,299,045	W13C	possibly damaging	Het
Zfp456	T	A	13: 67,362,364	K102*	probably null	Het
Zkscan1	T	C	5: 138,093,305	V100A	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
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
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'- GCAACAGATGATGCCTTCTTTC -3'
(R):5'- ATGATTTTGCACAACCACAGC -3'

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

Posted On

2018-04-27