Incidental Mutation 'R6582:Neto1'
ID 524198
Institutional Source Beutler Lab
Gene Symbol Neto1
Ensembl Gene ENSMUSG00000050321
Gene Name neuropilin (NRP) and tolloid (TLL)-like 1
Synonyms C130005O10Rik
MMRRC Submission 044706-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6582 (G1)
Quality Score 225.009
Status Validated
Chromosome 18
Chromosomal Location 86413077-86524843 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 86512985 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Stop codon at position 327 (K327*)
Ref Sequence ENSEMBL: ENSMUSP00000057340 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058829]
AlphaFold Q8R4I7
Predicted Effect probably null
Transcript: ENSMUST00000058829
AA Change: K327*
SMART Domains Protein: ENSMUSP00000057340
Gene: ENSMUSG00000050321
AA Change: K327*

DomainStartEndE-ValueType
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: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 94.1%
Validation Efficiency 100% (40/40)
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 T C 1: 71,297,384 (GRCm39) T2369A probably benign Het
Abhd6 T G 14: 8,042,828 (GRCm38) probably null Het
Abhd6 G T 14: 8,042,826 (GRCm38) G128C probably damaging Het
Acsm3 A G 7: 119,378,896 (GRCm39) E426G probably benign Het
Ankrd11 T C 8: 123,618,368 (GRCm39) D1828G probably benign Het
Asmt T A X: 169,108,766 (GRCm39) probably null Het
Casp4 A G 9: 5,324,884 (GRCm39) Q232R probably benign Het
Cenpt A T 8: 106,575,833 (GRCm39) L171* probably null Het
Chd3 AGCGGCGGCGGCGGCGGCGG AGCGGCGGCGGCGGCGG 11: 69,259,982 (GRCm39) probably benign Het
Col5a2 G T 1: 45,429,275 (GRCm39) H948N possibly damaging Het
Dnah9 G T 11: 65,951,923 (GRCm39) H1859N probably damaging Het
Dscaml1 G A 9: 45,664,104 (GRCm39) R1993Q probably benign Het
Fbxw8 C A 5: 118,263,028 (GRCm39) R217L probably benign Het
Flnb T G 14: 7,892,275 (GRCm38) probably null Het
Fyb2 A G 4: 104,802,739 (GRCm39) N214D probably benign Het
Gbp2b A G 3: 142,316,801 (GRCm39) E484G possibly damaging Het
Gzmk A G 13: 113,317,045 (GRCm39) Y45H probably damaging Het
Ivl CCTGCTGCTGCTGCT CCTGCTGCTGCT 3: 92,479,217 (GRCm39) probably benign Het
Kcnj6 A G 16: 94,633,685 (GRCm39) V142A possibly damaging Het
Klri2 A T 6: 129,716,096 (GRCm39) I81K possibly damaging Het
Lama3 T A 18: 12,710,897 (GRCm39) V3144E probably damaging Het
Mark1 G A 1: 184,644,786 (GRCm39) S390L possibly damaging Het
Mbd3l1 T C 9: 18,396,024 (GRCm39) Y50H probably benign Het
Mcat T C 15: 83,433,383 (GRCm39) N220S probably benign Het
Muc2 A G 7: 141,282,941 (GRCm39) E81G probably benign Het
Or10j3 G T 1: 173,031,847 (GRCm39) R308L probably benign Het
Or4a67 A T 2: 88,598,587 (GRCm39) L24Q probably damaging Het
Or52p1 A T 7: 104,267,648 (GRCm39) Y254F probably damaging Het
Or52u1 T C 7: 104,237,218 (GRCm39) L69P probably damaging Het
Pidd1 A T 7: 141,019,494 (GRCm39) V722D probably damaging Het
Ppp2r2a G T 14: 67,257,253 (GRCm39) H326N probably damaging Het
Smarca5 G A 8: 81,446,281 (GRCm39) T473I probably damaging Het
Spg11 C A 2: 121,922,773 (GRCm39) W892L probably damaging Het
Tas2r110 T A 6: 132,845,248 (GRCm39) I93N possibly damaging Het
Tiam2 CGGG CGGGG 17: 3,464,897 (GRCm39) probably null Het
Vmn1r71 T A 7: 10,482,608 (GRCm39) I27F probably benign Het
Vsnl1 A G 12: 11,376,489 (GRCm39) V132A probably benign Het
Wdsub1 T C 2: 59,708,652 (GRCm39) T74A probably damaging Het
Ywhaz T C 15: 36,791,166 (GRCm39) Y19C probably damaging Het
Other mutations in Neto1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- TGTCTTGTTGAATGCACATCGC -3'
(R):5'- TCTCCAAGTTCTCATGAGGTATC -3'

Sequencing Primer
(F):5'- GCACATCGCAATTGACTTTCATTG -3'
(R):5'- TCCAAGTTCTCATGAGGTATCTTTAG -3'
Posted On 2018-06-22