Mutagenetix > Incidental Mutation

Incidental Mutation 'R0633:Neto1'

58114

Institutional Source

Beutler Lab

Gene Symbol

Neto1

Ensembl Gene

ENSMUSG00000050321

Gene Name

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

Synonyms

C130005O10Rik

MMRRC Submission

038822-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0633 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

86413077-86524843 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 86422854 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 104 (R104*)

Ref Sequence

ENSEMBL: ENSMUSP00000057340 (fasta)

Gene Model

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

AlphaFold

Q8R4I7

Predicted Effect

probably null
Transcript: ENSMUST00000058829
AA Change: R104*

SMART Domains

Protein: ENSMUSP00000057340
Gene: ENSMUSG00000050321
AA Change: R104*

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

1x: 99.3%
3x: 98.8%
10x: 97.4%
20x: 94.7%

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts8	A	T	9: 30,854,807 (GRCm39)	R18S	probably damaging	Het
Adgb	G	A	10: 10,267,473 (GRCm39)	A923V	probably benign	Het
Aldh1a3	A	G	7: 66,049,970 (GRCm39)	V416A	probably damaging	Het
Alox5	C	T	6: 116,397,345 (GRCm39)	G280R	probably damaging	Het
Anapc5	A	T	5: 122,938,695 (GRCm39)	Y360N	probably damaging	Het
Apbb1	C	T	7: 105,208,170 (GRCm39)	V685I	probably damaging	Het
Apc2	C	A	10: 80,143,289 (GRCm39)	A463E	probably damaging	Het
Arhgap21	C	T	2: 20,860,198 (GRCm39)	W1170*	probably null	Het
Atat1	G	A	17: 36,212,315 (GRCm39)	R305C	probably damaging	Het
Brd8dc	A	G	18: 34,719,319 (GRCm39)	V167A	possibly damaging	Het
Cars2	T	C	8: 11,600,511 (GRCm39)	D56G	probably benign	Het
Ccdc202	T	G	14: 96,119,379 (GRCm39)	N45K	probably damaging	Het
Cdc42bpb	T	C	12: 111,311,989 (GRCm39)	I108V	probably damaging	Het
Cftr	T	A	6: 18,305,979 (GRCm39)	I1255K	probably damaging	Het
Ckap5	T	C	2: 91,381,088 (GRCm39)	L148P	probably damaging	Het
Cntn4	A	G	6: 106,656,209 (GRCm39)		probably null	Het
Cpe	G	A	8: 65,062,237 (GRCm39)	P273L	probably damaging	Het
Cpsf7	A	G	19: 10,509,146 (GRCm39)	D19G	probably benign	Het
Ddx25	C	A	9: 35,457,268 (GRCm39)	R349L	probably damaging	Het
Depdc7	T	C	2: 104,553,226 (GRCm39)	D446G	probably benign	Het
Det1	T	A	7: 78,493,683 (GRCm39)	N107I	probably benign	Het
Dock6	A	T	9: 21,755,713 (GRCm39)	D170E	probably benign	Het
Dvl1	C	T	4: 155,942,752 (GRCm39)	L673F	probably damaging	Het
Gucy1b1	A	T	3: 81,952,767 (GRCm39)	I222K	probably benign	Het
Hfm1	T	C	5: 107,065,467 (GRCm39)	T71A	possibly damaging	Het
Ikzf1	A	G	11: 11,719,223 (GRCm39)	E310G	probably damaging	Het
Impg1	T	C	9: 80,301,437 (GRCm39)	E163G	possibly damaging	Het
Itpr2	G	T	6: 146,275,954 (GRCm39)	H426Q	probably damaging	Het
Itpripl2	C	T	7: 118,089,479 (GRCm39)	G360D	probably benign	Het
Kif14	C	T	1: 136,455,043 (GRCm39)	R1572C	probably damaging	Het
L3mbtl3	A	T	10: 26,178,583 (GRCm39)	H568Q	unknown	Het
Lgi2	A	G	5: 52,711,802 (GRCm39)	Y173H	probably damaging	Het
Lpar5	A	C	6: 125,058,954 (GRCm39)	Y225S	probably benign	Het
Lpin3	A	G	2: 160,745,894 (GRCm39)	H675R	probably damaging	Het
Lrp2	C	A	2: 69,278,464 (GRCm39)	G3963V	probably damaging	Het
Man1a2	G	T	3: 100,591,891 (GRCm39)	D13E	possibly damaging	Het
Map1a	T	C	2: 121,138,495 (GRCm39)	V2753A	probably damaging	Het
Mitf	C	A	6: 97,980,865 (GRCm39)	N97K	probably damaging	Het
Msh2	A	G	17: 87,980,238 (GRCm39)		probably null	Het
Msr1	T	C	8: 40,073,041 (GRCm39)	E170G	probably damaging	Het
Myrip	C	A	9: 120,217,302 (GRCm39)	R79S	probably damaging	Het
Nek10	G	A	14: 14,857,782 (GRCm38)		probably null	Het
Nom1	A	C	5: 29,656,098 (GRCm39)	K821T	probably damaging	Het
Nrxn1	A	G	17: 91,011,609 (GRCm39)	V340A	probably damaging	Het
Nxpe4	A	T	9: 48,307,897 (GRCm39)	I334F	probably benign	Het
Or1e23	A	G	11: 73,407,753 (GRCm39)	S91P	probably benign	Het
Or2ag1	T	C	7: 106,313,184 (GRCm39)	K235E	probably benign	Het
Or4a74	T	C	2: 89,439,718 (GRCm39)	M243V	probably benign	Het
Or5al7	T	A	2: 85,992,435 (GRCm39)	N286I	probably damaging	Het
Or5b124	T	C	19: 13,610,700 (GRCm39)	V75A	probably damaging	Het
Or8k27	C	T	2: 86,275,473 (GRCm39)	M284I	probably benign	Het
Padi4	A	G	4: 140,484,896 (GRCm39)	S322P	probably damaging	Het
Peli3	A	G	19: 4,991,810 (GRCm39)	Y44H	probably damaging	Het
Prdm4	A	G	10: 85,743,767 (GRCm39)	S163P	probably damaging	Het
Prom2	T	C	2: 127,381,445 (GRCm39)	D227G	probably benign	Het
Ptgfr	C	T	3: 151,507,400 (GRCm39)	R321H	probably benign	Het
Resf1	A	T	6: 149,227,199 (GRCm39)	I82L	probably benign	Het
Rgs3	G	A	4: 62,544,143 (GRCm39)	R136H	probably damaging	Het
Rgsl1	T	G	1: 153,719,853 (GRCm39)	N3T	possibly damaging	Het
Rif1	T	C	2: 52,002,575 (GRCm39)	S2010P	probably benign	Het
Rngtt	T	C	4: 33,368,690 (GRCm39)	F408L	probably damaging	Het
Rtn3	T	G	19: 7,434,958 (GRCm39)	T326P	probably benign	Het
Slc18b1	A	C	10: 23,681,936 (GRCm39)	M167L	probably benign	Het
Slc22a26	A	G	19: 7,765,575 (GRCm39)		probably null	Het
Slitrk6	T	C	14: 110,989,317 (GRCm39)	D130G	probably damaging	Het
Snap47	A	G	11: 59,319,439 (GRCm39)	V233A	probably benign	Het
Sumf1	A	C	6: 108,121,632 (GRCm39)	Y158D	probably damaging	Het
Tbc1d15	A	T	10: 115,056,215 (GRCm39)	H252Q	probably benign	Het
Thsd7b	T	C	1: 130,116,263 (GRCm39)	S1339P	possibly damaging	Het
Tmem45a2	T	C	16: 56,869,777 (GRCm39)	I56V	probably benign	Het
Ttc21b	A	G	2: 66,066,577 (GRCm39)	S359P	probably benign	Het
Ttc27	T	C	17: 75,036,972 (GRCm39)	I215T	probably benign	Het
Ttn	C	T	2: 76,554,539 (GRCm39)	V30759I	possibly damaging	Het
Vdac3	T	C	8: 23,070,404 (GRCm39)	N168S	probably damaging	Het
Wdr7	T	C	18: 63,998,371 (GRCm39)	V1106A	probably benign	Het
Wrap73	T	A	4: 154,226,948 (GRCm39)	F16Y	probably damaging	Het
Zfat	C	A	15: 68,052,652 (GRCm39)	D381Y	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
IGL01505:Neto1	APN	18	86,491,814 (GRCm39)	missense	possibly damaging	0.82
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
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

Predicted Primers

PCR Primer
(F):5'- GGTGCTCTTTAGCGAACGTATCCC -3'
(R):5'- TGTGTTTCAGGTGACCACACTGAC -3'

Sequencing Primer
(F):5'- CAACAGTAAGCATCTTCTTCTGTG -3'
(R):5'- AGGTGACCACACTGACTTTTG -3'

Posted On

2013-07-11