Incidental Mutation 'IGL01705:Neto2'
ID 104571
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 # IGL01705
Quality Score
Status
Chromosome 8
Chromosomal Location 86363217-86427553 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 86367632 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 371 (K371E)
Ref Sequence ENSEMBL: ENSMUSP00000150062 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000109686] [ENSMUST00000209479] [ENSMUST00000216286]
AlphaFold Q8BNJ6
Predicted Effect probably damaging
Transcript: ENSMUST00000109686
AA Change: K399E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000105308
Gene: ENSMUSG00000036902
AA Change: K399E

DomainStartEndE-ValueType
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 damaging
Transcript: ENSMUST00000209479
AA Change: K364E

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215046
Predicted Effect probably damaging
Transcript: ENSMUST00000216286
AA Change: K371E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts19 A G 18: 59,166,038 (GRCm39) T1077A possibly damaging Het
Akap13 T C 7: 75,396,515 (GRCm39) V2504A possibly damaging Het
Anks3 A T 16: 4,765,587 (GRCm39) W172R probably benign Het
Asap2 T A 12: 21,299,369 (GRCm39) N633K possibly damaging Het
Astn1 A T 1: 158,331,883 (GRCm39) S326C probably damaging Het
Cachd1 A G 4: 100,840,736 (GRCm39) K900E possibly damaging Het
Cd5 A T 19: 10,703,659 (GRCm39) probably null Het
D130043K22Rik T A 13: 25,041,924 (GRCm39) N284K probably benign Het
Dtna C T 18: 23,678,788 (GRCm39) A38V probably damaging Het
Eny2 C A 15: 44,295,831 (GRCm39) probably null Het
Grm5 A G 7: 87,779,254 (GRCm39) Q930R possibly damaging Het
Igkv4-73 A T 6: 69,174,709 (GRCm39) noncoding transcript Het
Lama2 A T 10: 27,065,270 (GRCm39) probably benign Het
Lipg A G 18: 75,081,042 (GRCm39) probably null Het
Or8g52 T C 9: 39,630,877 (GRCm39) M118T possibly damaging Het
Paxbp1 A G 16: 90,813,876 (GRCm39) F834L probably benign Het
Paxip1 A T 5: 27,953,857 (GRCm39) S946R probably damaging Het
Pclo A G 5: 14,727,879 (GRCm39) probably benign Het
Plcg2 T C 8: 118,308,401 (GRCm39) L331P probably damaging Het
Reep1 A G 6: 71,750,272 (GRCm39) T95A probably damaging Het
Rfx2 A G 17: 57,092,303 (GRCm39) Y332H possibly damaging Het
Smchd1 A T 17: 71,688,393 (GRCm39) D1288E probably damaging Het
Spag17 A G 3: 99,930,046 (GRCm39) M582V probably benign Het
Susd1 A G 4: 59,332,931 (GRCm39) probably benign Het
Syt9 T G 7: 107,035,559 (GRCm39) L192R probably damaging Het
Tlr6 T C 5: 65,111,473 (GRCm39) K478R probably benign Het
Tmem115 G T 9: 107,412,403 (GRCm39) L242F probably benign Het
Tmt1b T A 10: 128,794,731 (GRCm39) I198F probably benign Het
Tnfaip1 T C 11: 78,416,294 (GRCm39) D263G probably benign Het
Ubqln3 T A 7: 103,791,884 (GRCm39) I69F probably damaging Het
Vps52 T C 17: 34,185,042 (GRCm39) L712P probably damaging Het
Other mutations in Neto2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01938:Neto2 APN 8 86,417,484 (GRCm39) missense probably benign 0.00
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 2014-01-21