Incidental Mutation 'IGL02238:Neto2'
ID285982
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: 0.191) question?
Stock #IGL02238
Quality Score
Status
Chromosome8
Chromosomal Location85636588-85700924 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 85669663 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Valine at position 118 (I118V)
Ref Sequence ENSEMBL: ENSMUSP00000150062 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000109686] [ENSMUST00000209479] [ENSMUST00000216286]
Predicted Effect possibly damaging
Transcript: ENSMUST00000109686
AA Change: I153V

PolyPhen 2 Score 0.903 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000105308
Gene: ENSMUSG00000036902
AA Change: I153V

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 possibly damaging
Transcript: ENSMUST00000209479
AA Change: I118V

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215046
Predicted Effect probably damaging
Transcript: ENSMUST00000216286
AA Change: I118V

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca15 T A 7: 120,396,606 I1322N probably benign Het
Adamts1 A T 16: 85,795,825 M565K probably benign Het
Akr1b7 T A 6: 34,415,398 Y49N probably damaging Het
Cacna2d2 T A 9: 107,513,558 V363E probably damaging Het
Cdc45 C T 16: 18,798,729 M200I probably benign Het
Cdh10 C T 15: 19,013,519 T735I probably damaging Het
Cds1 T A 5: 101,814,436 C306S possibly damaging Het
Clasp2 T C 9: 113,880,020 C644R probably damaging Het
Coil T C 11: 88,981,754 S314P probably benign Het
D630045J12Rik T A 6: 38,196,394 M280L probably benign Het
Dmxl2 C T 9: 54,445,433 V795M probably damaging Het
Dock10 A G 1: 80,533,793 V1533A probably damaging Het
Fbxo40 T C 16: 36,969,174 N525D possibly damaging Het
Fezf2 T C 14: 12,344,494 E231G probably damaging Het
Fmn1 T C 2: 113,582,125 V870A possibly damaging Het
Ifi44 A G 3: 151,732,382 *423Q probably null Het
Invs T C 4: 48,390,029 V173A probably damaging Het
Krt88 A G 15: 101,452,605 probably benign Het
Mctp2 A T 7: 72,090,205 Y812* probably null Het
Nutm2 T G 13: 50,471,039 M264R probably damaging Het
Olfr52 T C 2: 86,181,595 probably null Het
Olfr715 A G 7: 107,129,037 S119P probably damaging Het
Pcnx G A 12: 81,917,914 R285Q probably damaging Het
Pi16 G T 17: 29,326,295 K177N probably damaging Het
Pigg C T 5: 108,318,928 S225F possibly damaging Het
Prrc2b T A 2: 32,213,417 V969E probably damaging Het
Rab4b A C 7: 27,172,729 Y189D probably benign Het
Ran A G 5: 129,022,182 N143D possibly damaging Het
Rfc4 A T 16: 23,114,469 F286L probably damaging Het
Sel1l2 T C 2: 140,247,939 Y418C probably damaging Het
Slc13a1 T C 6: 24,103,483 I354V probably benign Het
Slc7a2 A T 8: 40,908,156 T386S probably benign Het
Tm2d2 G T 8: 25,022,771 V212F probably benign Het
Tmem247 A T 17: 86,918,293 N54Y probably damaging Het
Txnrd3 T A 6: 89,656,135 Y206N probably benign Het
Uba5 T C 9: 104,054,060 probably benign Het
Vmn2r54 A G 7: 12,635,983 L51P probably damaging Het
Wdr66 T C 5: 123,302,423 Y1091H probably damaging Het
Zfp735 A G 11: 73,710,493 K88E probably benign Het
Other mutations in Neto2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01705:Neto2 APN 8 85641003 missense probably damaging 1.00
IGL01938:Neto2 APN 8 85690855 missense probably benign 0.00
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
R7121:Neto2 UTSW 8 85670391 splice site probably null
Posted On2015-04-16