Incidental Mutation 'IGL01938:Neto2'
ID 180741
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Neto2
Ensembl Gene ENSMUSG00000036902
Gene Name neuropilin (NRP) and tolloid (TLL)-like 2
Synonyms 5530601C23Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.164) question?
Stock # IGL01938
Quality Score
Chromosome 8
Chromosomal Location 86363217-86427553 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 86417484 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 40 (I40T)
Ref Sequence ENSEMBL: ENSMUSP00000105308 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000109686] [ENSMUST00000209479] [ENSMUST00000216286]
AlphaFold Q8BNJ6
Predicted Effect probably benign
Transcript: ENSMUST00000109686
AA Change: I40T

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000105308
Gene: ENSMUSG00000036902
AA Change: I40T

transmembrane domain 38 60 N/A INTRINSIC
CUB 80 194 2.56e-40 SMART
CUB 205 320 9.11e-5 SMART
LDLa 324 361 5.73e-5 SMART
transmembrane domain 374 396 N/A INTRINSIC
coiled coil region 432 460 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209259
Predicted Effect probably benign
Transcript: ENSMUST00000209479
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215046
Predicted Effect probably benign
Transcript: ENSMUST00000216286
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 rats encodes a protein that modulates glutamate signaling in the brain by regulating kainate receptor function. Expression of this gene may be a biomarker for proliferating infantile hemangiomas. A pseudogene of this gene is located on the long arm of chromosome 8. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011]
PHENOTYPE: Mice homozygous for a null mutation show normal brain morphology and kainate receptor mediated excitatory postsynaptic currents. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310003L06Rik C T 5: 88,119,567 (GRCm39) T108I probably damaging Het
Adam34 A G 8: 44,104,053 (GRCm39) Y531H probably damaging Het
Arhgef10 T A 8: 15,041,062 (GRCm39) N1077K probably benign Het
BC034090 G T 1: 155,108,338 (GRCm39) probably null Het
Cachd1 A G 4: 100,831,325 (GRCm39) I706V possibly damaging Het
Cebpz A T 17: 79,242,390 (GRCm39) C421* probably null Het
Celsr3 T C 9: 108,705,614 (GRCm39) V699A probably benign Het
Col5a1 A G 2: 27,886,885 (GRCm39) N935S unknown Het
Dnah1 C T 14: 31,005,844 (GRCm39) V2312I probably benign Het
Ebf3 T C 7: 136,911,047 (GRCm39) T156A probably damaging Het
Ern1 A G 11: 106,302,483 (GRCm39) V457A probably benign Het
Flii T C 11: 60,605,942 (GRCm39) Y1177C probably damaging Het
Fryl T A 5: 73,279,707 (GRCm39) K197M probably damaging Het
Glb1l3 A G 9: 26,729,825 (GRCm39) F515S probably damaging Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
Kif26b T C 1: 178,743,603 (GRCm39) I1233T probably damaging Het
Kptn A G 7: 15,858,714 (GRCm39) Y286C probably damaging Het
Lyst A G 13: 13,812,009 (GRCm39) N807S possibly damaging Het
Mki67 C T 7: 135,296,059 (GRCm39) V2992M probably benign Het
Myocd A G 11: 65,077,914 (GRCm39) L627P probably damaging Het
Niban1 A G 1: 151,565,365 (GRCm39) T232A probably benign Het
Nipsnap1 C T 11: 4,843,134 (GRCm39) H269Y probably benign Het
Nlrp4g G A 9: 124,349,068 (GRCm38) noncoding transcript Het
Nup188 A T 2: 30,219,371 (GRCm39) R862S probably benign Het
Or1e16 T A 11: 73,286,471 (GRCm39) I126F probably damaging Het
Or4a80 G T 2: 89,582,692 (GRCm39) A160D probably benign Het
Or6c33 T A 10: 129,853,981 (GRCm39) Y250* probably null Het
Pde4c A T 8: 71,202,027 (GRCm39) K549N probably damaging Het
Pkd1l3 A G 8: 110,361,933 (GRCm39) T992A probably benign Het
Pramel32 A G 4: 88,547,600 (GRCm39) S24P possibly damaging Het
Smyd2 A G 1: 189,621,079 (GRCm39) V213A probably benign Het
Sult1c2 C T 17: 54,138,954 (GRCm39) V208M probably damaging Het
Ush2a T C 1: 188,530,042 (GRCm39) L3277P probably damaging Het
Wdr72 T C 9: 74,056,056 (GRCm39) V304A probably benign Het
Xrra1 T C 7: 99,528,676 (GRCm39) probably null Het
Zscan29 C T 2: 120,996,690 (GRCm39) A344T probably benign Het
Other mutations in Neto2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01705:Neto2 APN 8 86,367,632 (GRCm39) missense probably damaging 1.00
IGL02238:Neto2 APN 8 86,396,292 (GRCm39) missense probably damaging 0.99
IGL02605:Neto2 APN 8 86,390,064 (GRCm39) splice site probably benign
IGL02813:Neto2 APN 8 86,417,515 (GRCm39) missense probably benign
R0138:Neto2 UTSW 8 86,367,673 (GRCm39) missense possibly damaging 0.72
R1934:Neto2 UTSW 8 86,397,033 (GRCm39) missense possibly damaging 0.96
R2402:Neto2 UTSW 8 86,417,541 (GRCm39) missense probably benign 0.00
R2423:Neto2 UTSW 8 86,396,396 (GRCm39) missense probably damaging 1.00
R3821:Neto2 UTSW 8 86,389,924 (GRCm39) nonsense probably null
R3822:Neto2 UTSW 8 86,389,924 (GRCm39) nonsense probably null
R3883:Neto2 UTSW 8 86,389,894 (GRCm39) missense probably damaging 1.00
R3939:Neto2 UTSW 8 86,400,747 (GRCm39) missense probably damaging 0.99
R3940:Neto2 UTSW 8 86,400,747 (GRCm39) missense probably damaging 0.99
R3941:Neto2 UTSW 8 86,400,747 (GRCm39) missense probably damaging 0.99
R4433:Neto2 UTSW 8 86,367,712 (GRCm39) missense probably damaging 1.00
R4668:Neto2 UTSW 8 86,367,691 (GRCm39) missense probably damaging 1.00
R4675:Neto2 UTSW 8 86,396,333 (GRCm39) missense probably damaging 1.00
R4908:Neto2 UTSW 8 86,396,393 (GRCm39) missense probably damaging 0.99
R5459:Neto2 UTSW 8 86,397,112 (GRCm39) missense probably benign 0.35
R5471:Neto2 UTSW 8 86,367,389 (GRCm39) missense probably benign 0.41
R5544:Neto2 UTSW 8 86,374,506 (GRCm39) missense possibly damaging 0.94
R5571:Neto2 UTSW 8 86,367,173 (GRCm39) missense probably damaging 1.00
R6083:Neto2 UTSW 8 86,367,214 (GRCm39) missense probably benign 0.00
R6339:Neto2 UTSW 8 86,367,187 (GRCm39) missense probably benign 0.33
R6381:Neto2 UTSW 8 86,369,138 (GRCm39) missense probably damaging 0.99
R6572:Neto2 UTSW 8 86,397,033 (GRCm39) missense possibly damaging 0.96
R6593:Neto2 UTSW 8 86,396,175 (GRCm39) missense probably damaging 1.00
R6662:Neto2 UTSW 8 86,389,844 (GRCm39) missense probably damaging 1.00
R6881:Neto2 UTSW 8 86,367,185 (GRCm39) missense probably damaging 1.00
R6950:Neto2 UTSW 8 86,397,072 (GRCm39) missense probably damaging 1.00
R7121:Neto2 UTSW 8 86,397,020 (GRCm39) splice site probably null
R7754:Neto2 UTSW 8 86,396,329 (GRCm39) missense probably damaging 0.98
R7755:Neto2 UTSW 8 86,396,285 (GRCm39) missense probably damaging 1.00
R8682:Neto2 UTSW 8 86,367,295 (GRCm39) missense probably benign 0.01
R9326:Neto2 UTSW 8 86,369,063 (GRCm39) missense probably damaging 1.00
Posted On 2014-05-07