Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01505:Neto1'

89028

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Neto1

Ensembl Gene

ENSMUSG00000050321

Gene Name

neuropilin (NRP) and tolloid (TLL)-like 1

Synonyms

C130005O10Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01505

Quality Score

Status

Chromosome

Chromosomal Location

86413077-86524843 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 86491814 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 238 (D238E)

Ref Sequence

ENSEMBL: ENSMUSP00000057340 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000058829]

AlphaFold

Q8R4I7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000058829
AA Change: D238E

PolyPhen 2 Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000057340
Gene: ENSMUSG00000050321
AA Change: D238E

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
CUB	41	155	2.06e-35	SMART
CUB	172	287	3.1e-7	SMART
LDLa	291	328	3.11e-3	SMART
transmembrane domain	341	363	N/A	INTRINSIC
low complexity region	485	497	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

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 mice encodes a protein that plays a critical role in spatial learning and memory by regulating the function of synaptic N-methyl-D-aspartic acid receptor complexes in the hippocampus. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011]
PHENOTYPE: Mice homozygous for a null allele exhibit depressed long term potentiation, reduced NMDAR excitatory postsynaptic potentiation, and decreased spartial learning and working memory. [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
4930546C10Rik	T	C	18: 69,080,418 (GRCm39)		probably null	Het
A2m	A	G	6: 121,653,906 (GRCm39)	N1413S	possibly damaging	Het
Aadacl4fm4	C	T	4: 144,401,188 (GRCm39)	V99M	probably damaging	Het
Arhgap45	A	T	10: 79,862,376 (GRCm39)	N488Y	probably benign	Het
Arid4a	G	A	12: 71,083,889 (GRCm39)	D94N	probably damaging	Het
Atp7a	A	G	X: 105,153,436 (GRCm39)	K1114E	probably damaging	Het
Atp8a2	C	T	14: 60,265,512 (GRCm39)	V275M	probably benign	Het
Ceacam12	T	C	7: 17,801,357 (GRCm39)	V112A	probably damaging	Het
Cep295	T	A	9: 15,229,345 (GRCm39)	D2256V	probably benign	Het
Chid1	A	T	7: 141,093,807 (GRCm39)		probably null	Het
Clcn5	A	T	X: 7,036,678 (GRCm39)	L268*	probably null	Het
Cldn17	A	G	16: 88,303,591 (GRCm39)	I46T	possibly damaging	Het
Cnot1	A	T	8: 96,455,346 (GRCm39)	I2025N	probably damaging	Het
Cntn5	C	T	9: 9,706,092 (GRCm39)	V574M	probably damaging	Het
Col14a1	T	A	15: 55,318,619 (GRCm39)	C1373S	unknown	Het
Col9a1	A	G	1: 24,224,205 (GRCm39)	N129S	unknown	Het
Cp	C	T	3: 20,031,356 (GRCm39)	P598S	possibly damaging	Het
Cpb1	G	A	3: 20,320,410 (GRCm39)	R150C	probably damaging	Het
Cyp2j7	T	A	4: 96,115,917 (GRCm39)		probably null	Het
Dnajb7	T	C	15: 81,291,692 (GRCm39)	E215G	possibly damaging	Het
Dock1	G	A	7: 134,760,239 (GRCm39)	R1634Q	possibly damaging	Het
Dop1b	A	G	16: 93,554,004 (GRCm39)	T313A	possibly damaging	Het
Fgd2	T	A	17: 29,585,971 (GRCm39)	V185E	probably damaging	Het
Flnb	T	C	14: 7,902,003 (GRCm38)		probably null	Het
Fzd7	A	G	1: 59,523,062 (GRCm39)	E315G	probably benign	Het
Gjd3	T	A	11: 102,691,552 (GRCm39)	K150N	probably benign	Het
Gpihbp1	C	T	15: 75,469,977 (GRCm39)		probably benign	Het
Gpr160	T	C	3: 30,950,002 (GRCm39)	S25P	possibly damaging	Het
Grsf1	G	A	5: 88,820,608 (GRCm39)	R58*	probably null	Het
Ifit1	T	A	19: 34,625,854 (GRCm39)	M330K	probably benign	Het
Igkv1-122	T	C	6: 67,994,178 (GRCm39)	V22A	probably benign	Het
Ikbke	A	T	1: 131,183,048 (GRCm39)	D692E	probably benign	Het
Il15ra	T	C	2: 11,737,956 (GRCm39)		probably benign	Het
Il18rap	A	G	1: 40,576,244 (GRCm39)	I252V	probably damaging	Het
Klra10	C	T	6: 130,249,680 (GRCm39)	G202R	probably damaging	Het
Kpna7	A	G	5: 144,929,661 (GRCm39)	V388A	probably damaging	Het
L2hgdh	A	G	12: 69,768,175 (GRCm39)	S108P	probably damaging	Het
Msto1	G	A	3: 88,818,050 (GRCm39)	T388M	probably benign	Het
Naip1	T	C	13: 100,562,441 (GRCm39)	E908G	probably damaging	Het
Nlrp5	T	A	7: 23,117,159 (GRCm39)	D294E	probably benign	Het
Nr3c2	T	C	8: 77,635,816 (GRCm39)	S306P	probably damaging	Het
Or8b41	T	A	9: 38,055,167 (GRCm39)	C240*	probably null	Het
Pard3	T	A	8: 128,050,544 (GRCm39)	L202H	probably damaging	Het
Pdzd2	T	C	15: 12,458,293 (GRCm39)	N190S	probably damaging	Het
Pi4ka	T	C	16: 17,127,222 (GRCm39)	D1077G	probably benign	Het
Pmfbp1	A	C	8: 110,240,543 (GRCm39)	L208F	probably damaging	Het
Pms1	C	T	1: 53,246,130 (GRCm39)	D470N	probably benign	Het
Prdm10	T	C	9: 31,238,578 (GRCm39)	F108L	probably benign	Het
Rab11fip1	A	T	8: 27,644,804 (GRCm39)	M327K	possibly damaging	Het
Slc37a4	T	A	9: 44,311,261 (GRCm39)	L184Q	probably damaging	Het
Smdt1	T	C	15: 82,232,094 (GRCm39)		probably benign	Het
Smg6	A	G	11: 75,047,117 (GRCm39)	Y1270C	probably damaging	Het
Speer4f2	T	A	5: 17,581,565 (GRCm39)	V169E	possibly damaging	Het
Stpg2	C	T	3: 139,023,214 (GRCm39)	A410V	probably benign	Het
Tnrc6b	T	A	15: 80,764,164 (GRCm39)	D555E	probably benign	Het
Tsg101	A	G	7: 46,558,808 (GRCm39)	Y46H	probably damaging	Het
Vmn2r111	G	A	17: 22,767,553 (GRCm39)	S648L	probably benign	Het
Vmn2r73	T	A	7: 85,507,267 (GRCm39)	R682*	probably null	Het
Xkr5	A	T	8: 18,983,514 (GRCm39)	I676N	probably damaging	Het

Other mutations in Neto1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00764:Neto1	APN	18	86,516,937 (GRCm39)	missense	probably damaging	0.98
IGL01511:Neto1	APN	18	86,414,033 (GRCm39)	missense	possibly damaging	0.96
IGL02704:Neto1	APN	18	86,491,948 (GRCm39)	missense	probably damaging	1.00
IGL03072:Neto1	APN	18	86,516,714 (GRCm39)	missense	probably benign	0.23
R0119:Neto1	UTSW	18	86,479,445 (GRCm39)	missense	probably benign	0.17
R0136:Neto1	UTSW	18	86,479,445 (GRCm39)	missense	probably benign	0.17
R0299:Neto1	UTSW	18	86,479,445 (GRCm39)	missense	probably benign	0.17
R0603:Neto1	UTSW	18	86,491,785 (GRCm39)	missense	possibly damaging	0.95
R0633:Neto1	UTSW	18	86,422,854 (GRCm39)	nonsense	probably null
R0657:Neto1	UTSW	18	86,479,445 (GRCm39)	missense	probably benign	0.17
R1395:Neto1	UTSW	18	86,416,144 (GRCm39)	splice site	probably benign
R1648:Neto1	UTSW	18	86,518,179 (GRCm39)	missense	probably damaging	1.00
R1852:Neto1	UTSW	18	86,414,009 (GRCm39)	start codon destroyed	probably null	0.53
R2249:Neto1	UTSW	18	86,479,399 (GRCm39)	missense	probably benign	0.02
R4418:Neto1	UTSW	18	86,422,981 (GRCm39)	missense	probably benign
R4476:Neto1	UTSW	18	86,422,798 (GRCm39)	missense	probably damaging	0.98
R4676:Neto1	UTSW	18	86,416,427 (GRCm39)	missense	possibly damaging	0.47
R5095:Neto1	UTSW	18	86,416,406 (GRCm39)	missense	probably benign
R5282:Neto1	UTSW	18	86,422,998 (GRCm39)	missense	probably damaging	1.00
R5337:Neto1	UTSW	18	86,416,434 (GRCm39)	missense	probably benign	0.00
R5400:Neto1	UTSW	18	86,414,033 (GRCm39)	missense	possibly damaging	0.86
R5435:Neto1	UTSW	18	86,416,388 (GRCm39)	missense	probably benign	0.00
R5632:Neto1	UTSW	18	86,516,768 (GRCm39)	missense	probably benign	0.00
R5755:Neto1	UTSW	18	86,517,219 (GRCm39)	missense	probably damaging	0.99
R6272:Neto1	UTSW	18	86,512,940 (GRCm39)	missense	probably damaging	1.00
R6486:Neto1	UTSW	18	86,479,371 (GRCm39)	missense	probably benign
R6505:Neto1	UTSW	18	86,516,699 (GRCm39)	missense	possibly damaging	0.81
R6526:Neto1	UTSW	18	86,516,873 (GRCm39)	missense	possibly damaging	0.47
R6582:Neto1	UTSW	18	86,512,985 (GRCm39)	nonsense	probably null
R6887:Neto1	UTSW	18	86,516,760 (GRCm39)	missense	probably benign	0.16
R7452:Neto1	UTSW	18	86,517,056 (GRCm39)	missense	probably benign
R7469:Neto1	UTSW	18	86,516,813 (GRCm39)	missense	probably benign
R7795:Neto1	UTSW	18	86,479,198 (GRCm39)	missense	probably benign	0.00
R8912:Neto1	UTSW	18	86,479,173 (GRCm39)	missense	probably damaging	0.98
R9191:Neto1	UTSW	18	86,516,781 (GRCm39)	missense	probably damaging	1.00
R9196:Neto1	UTSW	18	86,413,965 (GRCm39)	start gained	probably benign
R9384:Neto1	UTSW	18	86,413,965 (GRCm39)	start gained	probably benign
R9597:Neto1	UTSW	18	86,422,821 (GRCm39)	missense	possibly damaging	0.95
R9674:Neto1	UTSW	18	86,491,827 (GRCm39)	missense	probably damaging	0.99

Posted On

2013-12-03