Mutagenetix > Incidental Mutation

Incidental Mutation 'R5337:Neto1'

423600

Institutional Source

Beutler Lab

Gene Symbol

Neto1

Ensembl Gene

ENSMUSG00000050321

Gene Name

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

Synonyms

C130005O10Rik

MMRRC Submission

042917-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5337 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

86394952-86501897 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 86398309 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 47 (H47L)

Ref Sequence

ENSEMBL: ENSMUSP00000057340 (fasta)

Gene Model

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

AlphaFold

Q8R4I7

Predicted Effect

probably benign
Transcript: ENSMUST00000058829
AA Change: H47L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000057340
Gene: ENSMUSG00000050321
AA Change: H47L

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

Meta Mutation Damage Score

0.0668

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.9%

Validation Efficiency

98% (59/60)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110032A03Rik	C	A	9: 50,765,749	C14F	probably benign	Het
2610507B11Rik	T	A	11: 78,265,208	I182N	possibly damaging	Het
Abhd15	T	A	11: 77,518,839		probably null	Het
Akap8l	A	G	17: 32,336,394	M237T	possibly damaging	Het
Anapc15	C	T	7: 101,898,603	P68L	probably damaging	Het
Api5	G	T	2: 94,425,688	A218E	possibly damaging	Het
BC067074	T	A	13: 113,318,765	H448Q	probably damaging	Het
Cftr	A	G	6: 18,319,059	D1336G	probably damaging	Het
Chd1l	G	A	3: 97,562,616	R865W	probably damaging	Het
Cmya5	T	C	13: 93,083,273	K3223E	probably benign	Het
Cuzd1	A	G	7: 131,316,074	Y266H	probably damaging	Het
Dnajc5b	A	T	3: 19,574,782	Y80F	probably damaging	Het
Dock6	A	G	9: 21,829,548	S915P	possibly damaging	Het
Fam166b	C	T	4: 43,427,687		probably null	Het
Fat4	T	A	3: 38,891,627	D1556E	probably damaging	Het
Fat4	A	G	3: 39,010,378	T4828A	probably benign	Het
Gad1-ps	G	A	10: 99,445,147		noncoding transcript	Het
Gja3	T	G	14: 57,035,832	D361A	probably benign	Het
Gpr155	T	C	2: 73,348,248	E704G	probably benign	Het
Greb1l	A	G	18: 10,509,143	E485G	probably damaging	Het
Grik1	CGG	CGGG	16: 87,923,194		probably null	Het
H6pd	A	G	4: 149,981,784	V715A	probably benign	Het
Itgb4	C	T	11: 115,984,157	R447W	probably benign	Het
Kcnip1	T	G	11: 33,642,389		probably benign	Het
Kif21b	T	C	1: 136,171,143	S1390P	probably damaging	Het
Lrrc61	G	A	6: 48,568,374	V44M	probably damaging	Het
Map3k4	G	T	17: 12,271,610	N311K	probably damaging	Het
Mgat5	T	C	1: 127,459,921	F538S	possibly damaging	Het
Mtpn	C	T	6: 35,512,290	D100N	probably benign	Het
Ndst1	A	T	18: 60,690,007	L829Q	probably damaging	Het
Olfr1333	T	C	4: 118,829,666	Y258C	probably benign	Het
Olfr485	A	T	7: 108,159,273	V200D	probably benign	Het
Olfr550	T	C	7: 102,579,274	S260P	probably damaging	Het
Olfr807	A	T	10: 129,754,534	C305*	probably null	Het
Olfr9	A	G	10: 128,990,679	T256A	probably benign	Het
Pds5b	T	C	5: 150,793,597	F1120L	probably benign	Het
Phkb	A	G	8: 85,878,245	Y93C	probably damaging	Het
Pilra	C	T	5: 137,835,770		probably benign	Het
Pmvk	T	C	3: 89,468,571	V146A	probably benign	Het
Proz	T	A	8: 13,066,854	D135E	probably benign	Het
Psg23	A	T	7: 18,612,072	W233R	probably benign	Het
Rgl2	A	T	17: 33,934,984	I455F	probably damaging	Het
Rhpn1	A	G	15: 75,708,205	Q39R	probably benign	Het
Rims4	T	G	2: 163,865,843	M100L	probably benign	Het
Sacs	T	A	14: 61,193,514		probably benign	Het
Slfn4	T	C	11: 83,189,229	F189L	probably benign	Het
Sntb1	C	G	15: 55,642,795	G461R	probably damaging	Het
Tmem127	T	C	2: 127,256,145	Y129H	probably damaging	Het
Trim50	C	T	5: 135,367,476	T426M	probably damaging	Het
Trpc3	A	T	3: 36,638,370		probably benign	Het
Tsga10ip	A	T	19: 5,394,335	S23T	probably benign	Het
Uspl1	T	C	5: 149,214,746	S720P	probably damaging	Het
Zc3h18	A	G	8: 122,386,902	D211G	probably damaging	Het
Zcchc6	G	A	13: 59,791,852	T695I	probably damaging	Het
Zswim4	G	A	8: 84,235,079	P55L	probably damaging	Het

Other mutations in Neto1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00764:Neto1	APN	18	86498812	missense	probably damaging	0.98
IGL01505:Neto1	APN	18	86473689	missense	possibly damaging	0.82
IGL01511:Neto1	APN	18	86395908	missense	possibly damaging	0.96
IGL02704:Neto1	APN	18	86473823	missense	probably damaging	1.00
IGL03072:Neto1	APN	18	86498589	missense	probably benign	0.23
R0119:Neto1	UTSW	18	86461320	missense	probably benign	0.17
R0136:Neto1	UTSW	18	86461320	missense	probably benign	0.17
R0299:Neto1	UTSW	18	86461320	missense	probably benign	0.17
R0603:Neto1	UTSW	18	86473660	missense	possibly damaging	0.95
R0633:Neto1	UTSW	18	86404729	nonsense	probably null
R0657:Neto1	UTSW	18	86461320	missense	probably benign	0.17
R1395:Neto1	UTSW	18	86398019	splice site	probably benign
R1648:Neto1	UTSW	18	86500054	missense	probably damaging	1.00
R1852:Neto1	UTSW	18	86395884	start codon destroyed	probably null	0.53
R2249:Neto1	UTSW	18	86461274	missense	probably benign	0.02
R4418:Neto1	UTSW	18	86404856	missense	probably benign
R4476:Neto1	UTSW	18	86404673	missense	probably damaging	0.98
R4676:Neto1	UTSW	18	86398302	missense	possibly damaging	0.47
R5095:Neto1	UTSW	18	86398281	missense	probably benign
R5282:Neto1	UTSW	18	86404873	missense	probably damaging	1.00
R5400:Neto1	UTSW	18	86395908	missense	possibly damaging	0.86
R5435:Neto1	UTSW	18	86398263	missense	probably benign	0.00
R5632:Neto1	UTSW	18	86498643	missense	probably benign	0.00
R5755:Neto1	UTSW	18	86499094	missense	probably damaging	0.99
R6272:Neto1	UTSW	18	86494815	missense	probably damaging	1.00
R6486:Neto1	UTSW	18	86461246	missense	probably benign
R6505:Neto1	UTSW	18	86498574	missense	possibly damaging	0.81
R6526:Neto1	UTSW	18	86498748	missense	possibly damaging	0.47
R6582:Neto1	UTSW	18	86494860	nonsense	probably null
R6887:Neto1	UTSW	18	86498635	missense	probably benign	0.16
R7452:Neto1	UTSW	18	86498931	missense	probably benign
R7469:Neto1	UTSW	18	86498688	missense	probably benign
R7795:Neto1	UTSW	18	86461073	missense	probably benign	0.00
R8912:Neto1	UTSW	18	86461048	missense	probably damaging	0.98
R9191:Neto1	UTSW	18	86498656	missense	probably damaging	1.00
R9196:Neto1	UTSW	18	86395840	start gained	probably benign
R9384:Neto1	UTSW	18	86395840	start gained	probably benign
R9597:Neto1	UTSW	18	86404696	missense	possibly damaging	0.95
R9674:Neto1	UTSW	18	86473702	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GCCCATTATATTTCCAGAATACCTGAG -3'
(R):5'- TACACATCACACACTTGGGG -3'

Sequencing Primer
(F):5'- TGACTGGTTTTGAGTAAAAGACCG -3'
(R):5'- ACTTGGGGACTCTCACAAGC -3'

Posted On

2016-08-04