Incidental Mutation 'IGL02813:Neto2'
ID360660
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 #IGL02813
Quality Score
Status
Chromosome8
Chromosomal Location85636588-85700924 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 85690886 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Tyrosine at position 30 (D30Y)
Ref Sequence ENSEMBL: ENSMUSP00000105308 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000109686] [ENSMUST00000209479] [ENSMUST00000216286]
Predicted Effect probably benign
Transcript: ENSMUST00000109686
AA Change: D30Y

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000105308
Gene: ENSMUSG00000036902
AA Change: D30Y

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 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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy1 C A 11: 7,146,591 Q660K possibly damaging Het
Arhgap5 A C 12: 52,516,965 T240P probably benign Het
Arhgef7 C T 8: 11,800,767 probably benign Het
Cttnbp2 C A 6: 18,367,538 V1594F possibly damaging Het
Cyp2a22 G T 7: 26,936,434 Q235K probably benign Het
E330009J07Rik C T 6: 40,418,539 V212I probably benign Het
Ecm1 G A 3: 95,736,786 P169S probably damaging Het
Emilin3 G A 2: 160,908,729 Q320* probably null Het
Ern1 T C 11: 106,423,425 D183G probably damaging Het
Gpat2 T C 2: 127,434,455 V635A possibly damaging Het
Gria1 A G 11: 57,283,584 N564S probably damaging Het
Grtp1 A C 8: 13,186,945 I173S possibly damaging Het
Hsd17b4 A G 18: 50,128,348 probably benign Het
Lrp1b T C 2: 40,679,217 probably null Het
Mark4 A T 7: 19,447,256 probably null Het
Mphosph9 T C 5: 124,315,628 D207G probably benign Het
Mrgprd A G 7: 145,321,514 M41V probably benign Het
Myo1g T C 11: 6,518,743 *66W probably null Het
Nlrp6 A T 7: 140,923,420 I450F possibly damaging Het
Nup155 T A 15: 8,130,121 probably benign Het
Olfr1205 A G 2: 88,831,151 I11M probably benign Het
Pcdhb10 T G 18: 37,413,762 S630R possibly damaging Het
Rwdd4a T C 8: 47,537,361 probably null Het
Slc12a7 T A 13: 73,813,676 probably benign Het
Slc22a20 C T 19: 5,984,858 V192I probably benign Het
Slc9a2 T A 1: 40,742,669 S353T probably damaging Het
Srgap3 A G 6: 112,731,480 F753L probably damaging Het
Tcea1 C T 1: 4,886,756 T93I probably benign Het
Tctex1d1 A G 4: 102,992,572 N64S probably damaging Het
Tecpr2 A T 12: 110,933,192 S665C probably damaging Het
Tor4a C A 2: 25,194,749 E381* probably null Het
Vdr A G 15: 97,869,681 Y143H probably benign Het
Vmn2r91 A C 17: 18,136,086 T672P possibly damaging Het
Wdr41 A G 13: 94,995,245 probably null 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
IGL02238:Neto2 APN 8 85669663 missense probably damaging 0.99
IGL02605:Neto2 APN 8 85663435 splice site 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 On2015-12-18