Incidental Mutation 'IGL02813:Neto2'
| ID |
360660 |
| 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)
|
| Stock # |
IGL02813
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
86363217-86427553 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 86417515 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| 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]
|
| AlphaFold |
Q8BNJ6 |
| 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
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy1 |
C |
A |
11: 7,096,591 (GRCm39) |
Q660K |
possibly damaging |
Het |
| Arhgap5 |
A |
C |
12: 52,563,748 (GRCm39) |
T240P |
probably benign |
Het |
| Arhgef7 |
C |
T |
8: 11,850,767 (GRCm39) |
|
probably benign |
Het |
| Cttnbp2 |
C |
A |
6: 18,367,537 (GRCm39) |
V1594F |
possibly damaging |
Het |
| Cyp2a22 |
G |
T |
7: 26,635,859 (GRCm39) |
Q235K |
probably benign |
Het |
| Dennd11 |
C |
T |
6: 40,395,473 (GRCm39) |
V212I |
probably benign |
Het |
| Dynlt5 |
A |
G |
4: 102,849,769 (GRCm39) |
N64S |
probably damaging |
Het |
| Ecm1 |
G |
A |
3: 95,644,098 (GRCm39) |
P169S |
probably damaging |
Het |
| Emilin3 |
G |
A |
2: 160,750,649 (GRCm39) |
Q320* |
probably null |
Het |
| Ern1 |
T |
C |
11: 106,314,251 (GRCm39) |
D183G |
probably damaging |
Het |
| Gpat2 |
T |
C |
2: 127,276,375 (GRCm39) |
V635A |
possibly damaging |
Het |
| Gria1 |
A |
G |
11: 57,174,410 (GRCm39) |
N564S |
probably damaging |
Het |
| Grtp1 |
A |
C |
8: 13,236,945 (GRCm39) |
I173S |
possibly damaging |
Het |
| Hsd17b4 |
A |
G |
18: 50,261,415 (GRCm39) |
|
probably benign |
Het |
| Lrp1b |
T |
C |
2: 40,569,229 (GRCm39) |
|
probably null |
Het |
| Mark4 |
A |
T |
7: 19,181,181 (GRCm39) |
|
probably null |
Het |
| Mphosph9 |
T |
C |
5: 124,453,691 (GRCm39) |
D207G |
probably benign |
Het |
| Mrgprd |
A |
G |
7: 144,875,251 (GRCm39) |
M41V |
probably benign |
Het |
| Myo1g |
T |
C |
11: 6,468,743 (GRCm39) |
*66W |
probably null |
Het |
| Nlrp6 |
A |
T |
7: 140,503,333 (GRCm39) |
I450F |
possibly damaging |
Het |
| Nup155 |
T |
A |
15: 8,159,605 (GRCm39) |
|
probably benign |
Het |
| Or4c11c |
A |
G |
2: 88,661,495 (GRCm39) |
I11M |
probably benign |
Het |
| Pcdhb10 |
T |
G |
18: 37,546,815 (GRCm39) |
S630R |
possibly damaging |
Het |
| Rwdd4a |
T |
C |
8: 47,990,396 (GRCm39) |
|
probably null |
Het |
| Slc12a7 |
T |
A |
13: 73,961,795 (GRCm39) |
|
probably benign |
Het |
| Slc22a20 |
C |
T |
19: 6,034,886 (GRCm39) |
V192I |
probably benign |
Het |
| Slc9a2 |
T |
A |
1: 40,781,829 (GRCm39) |
S353T |
probably damaging |
Het |
| Srgap3 |
A |
G |
6: 112,708,441 (GRCm39) |
F753L |
probably damaging |
Het |
| Tcea1 |
C |
T |
1: 4,956,979 (GRCm39) |
T93I |
probably benign |
Het |
| Tecpr2 |
A |
T |
12: 110,899,626 (GRCm39) |
S665C |
probably damaging |
Het |
| Tor4a |
C |
A |
2: 25,084,761 (GRCm39) |
E381* |
probably null |
Het |
| Vdr |
A |
G |
15: 97,767,562 (GRCm39) |
Y143H |
probably benign |
Het |
| Vmn2r91 |
A |
C |
17: 18,356,348 (GRCm39) |
T672P |
possibly damaging |
Het |
| Wdr41 |
A |
G |
13: 95,131,753 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Neto2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01705:Neto2
|
APN |
8 |
86,367,632 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
|
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 |
2015-12-18 |
Incidental Mutation