Incidental Mutation 'IGL03072:Neto1'
ID417556
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Neto1
Ensembl Gene ENSMUSG00000050321
Gene Nameneuropilin (NRP) and tolloid (TLL)-like 1
SynonymsC130005O10Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03072
Quality Score
Status
Chromosome18
Chromosomal Location86394952-86501897 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 86498589 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 344 (T344A)
Ref Sequence ENSEMBL: ENSMUSP00000057340 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058829]
Predicted Effect probably benign
Transcript: ENSMUST00000058829
AA Change: T344A

PolyPhen 2 Score 0.232 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000057340
Gene: ENSMUSG00000050321
AA Change: T344A

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
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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik G A 13: 77,259,997 V148I probably benign Het
Ahcyl2 T C 6: 29,906,501 probably benign Het
Ahnak T C 19: 9,006,508 S1719P probably benign Het
C2cd5 A G 6: 143,079,883 I196T possibly damaging Het
Cdhr2 A G 13: 54,726,661 I849V probably benign Het
Cpsf3 A G 12: 21,295,088 K134E possibly damaging Het
Dnaic1 A G 4: 41,602,979 T161A probably benign Het
Gm17093 G T 14: 44,520,672 probably benign Het
Igf2bp2 A G 16: 22,068,141 probably null Het
Lcor T C 19: 41,558,814 V279A possibly damaging Het
Myo9a C A 9: 59,809,442 T475K possibly damaging Het
Nat8f4 A G 6: 85,900,854 probably benign Het
Olfr1048 A T 2: 86,236,460 M118K probably damaging Het
Olfr371 A G 8: 85,230,510 N5S probably benign Het
Olfr772 A T 10: 129,174,489 D177E probably damaging Het
Pde8a A T 7: 81,308,809 I312F probably damaging Het
Ppp3cb A G 14: 20,531,725 I74T probably damaging Het
Prom1 T C 5: 44,058,662 probably benign Het
Psg29 T C 7: 17,208,794 V240A probably benign Het
Reep4 T C 14: 70,548,235 S238P probably damaging Het
Stxbp2 A T 8: 3,641,971 I538F probably benign Het
Tmprss5 T A 9: 49,109,018 N99K possibly damaging Het
Tph1 G A 7: 46,652,859 T313M probably damaging Het
Tprn T C 2: 25,264,518 S611P probably damaging Het
Upp2 G T 2: 58,755,423 probably null Het
Vezt C A 10: 93,974,033 A549S probably damaging Het
Zfp786 A G 6: 47,821,243 Y254H probably benign Het
Other mutations in Neto1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
R5337:Neto1 UTSW 18 86398309 missense probably benign 0.00
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
Posted On2016-08-02