Incidental Mutation 'IGL01705:Neto2'
ID104571
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Neto2
Ensembl Gene ENSMUSG00000036902
Gene Nameneuropilin (NRP) and tolloid (TLL)-like 2
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.160) question?
Stock #IGL01705
Quality Score
Status
Chromosome8
Chromosomal Location85636588-85700924 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 85641003 bp
ZygosityHeterozygous
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]
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: 59,032,966 T1077A possibly damaging Het
Akap13 T C 7: 75,746,767 V2504A possibly damaging Het
Anks3 A T 16: 4,947,723 W172R probably benign Het
Asap2 T A 12: 21,249,368 N633K possibly damaging Het
Astn1 A T 1: 158,504,313 S326C probably damaging Het
Cachd1 A G 4: 100,983,539 K900E possibly damaging Het
Cd5 A T 19: 10,726,295 probably null Het
D130043K22Rik T A 13: 24,857,941 N284K probably benign Het
Dtna C T 18: 23,545,731 A38V probably damaging Het
Eny2 C A 15: 44,432,435 probably null Het
Grm5 A G 7: 88,130,046 Q930R possibly damaging Het
Igkv4-73 A T 6: 69,197,725 noncoding transcript Het
Lama2 A T 10: 27,189,274 probably benign Het
Lipg A G 18: 74,947,971 probably null Het
Mettl7b T A 10: 128,958,862 I198F probably benign Het
Olfr965 T C 9: 39,719,581 M118T possibly damaging Het
Paxbp1 A G 16: 91,016,988 F834L probably benign Het
Paxip1 A T 5: 27,748,859 S946R probably damaging Het
Pclo A G 5: 14,677,865 probably benign Het
Plcg2 T C 8: 117,581,662 L331P probably damaging Het
Reep1 A G 6: 71,773,288 T95A probably damaging Het
Rfx2 A G 17: 56,785,303 Y332H possibly damaging Het
Smchd1 A T 17: 71,381,398 D1288E probably damaging Het
Spag17 A G 3: 100,022,730 M582V probably benign Het
Susd1 A G 4: 59,332,931 probably benign Het
Syt9 T G 7: 107,436,352 L192R probably damaging Het
Tlr6 T C 5: 64,954,130 K478R probably benign Het
Tmem115 G T 9: 107,535,204 L242F probably benign Het
Tnfaip1 T C 11: 78,525,468 D263G probably benign Het
Ubqln3 T A 7: 104,142,677 I69F probably damaging Het
Vps52 T C 17: 33,966,068 L712P probably damaging Het
Other mutations in Neto2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01938:Neto2 APN 8 85690855 missense probably benign 0.00
IGL02238:Neto2 APN 8 85669663 missense probably damaging 0.99
IGL02605:Neto2 APN 8 85663435 splice site probably benign
IGL02813:Neto2 APN 8 85690886 missense probably benign
R0138:Neto2 UTSW 8 85641044 missense possibly damaging 0.72
R1934:Neto2 UTSW 8 85670404 missense possibly damaging 0.96
R2402:Neto2 UTSW 8 85690912 missense probably benign 0.00
R2423:Neto2 UTSW 8 85669767 missense probably damaging 1.00
R3821:Neto2 UTSW 8 85663295 nonsense probably null
R3822:Neto2 UTSW 8 85663295 nonsense probably null
R3883:Neto2 UTSW 8 85663265 missense probably damaging 1.00
R3939:Neto2 UTSW 8 85674118 missense probably damaging 0.99
R3940:Neto2 UTSW 8 85674118 missense probably damaging 0.99
R3941:Neto2 UTSW 8 85674118 missense probably damaging 0.99
R4433:Neto2 UTSW 8 85641083 missense probably damaging 1.00
R4668:Neto2 UTSW 8 85641062 missense probably damaging 1.00
R4675:Neto2 UTSW 8 85669704 missense probably damaging 1.00
R4908:Neto2 UTSW 8 85669764 missense probably damaging 0.99
R5459:Neto2 UTSW 8 85670483 missense probably benign 0.35
R5471:Neto2 UTSW 8 85640760 missense probably benign 0.41
R5544:Neto2 UTSW 8 85647877 missense possibly damaging 0.94
R5571:Neto2 UTSW 8 85640544 missense probably damaging 1.00
R6083:Neto2 UTSW 8 85640585 missense probably benign 0.00
R6339:Neto2 UTSW 8 85640558 missense probably benign 0.33
R6381:Neto2 UTSW 8 85642509 missense probably damaging 0.99
R6572:Neto2 UTSW 8 85670404 missense possibly damaging 0.96
R6593:Neto2 UTSW 8 85669546 missense probably damaging 1.00
R6662:Neto2 UTSW 8 85663215 missense probably damaging 1.00
R6881:Neto2 UTSW 8 85640556 missense probably damaging 1.00
R6950:Neto2 UTSW 8 85670443 missense probably damaging 1.00
Posted On2014-01-21