Incidental Mutation 'IGL02238:Neto2'
| ID |
285982 |
| 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 # |
IGL02238
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
86363217-86427553 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 86396292 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| 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]
|
| AlphaFold |
Q8BNJ6 |
| 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
| 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 |
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
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca15 |
T |
A |
7: 119,995,829 (GRCm39) |
I1322N |
probably benign |
Het |
| Adamts1 |
A |
T |
16: 85,592,713 (GRCm39) |
M565K |
probably benign |
Het |
| Akr1b7 |
T |
A |
6: 34,392,333 (GRCm39) |
Y49N |
probably damaging |
Het |
| Cacna2d2 |
T |
A |
9: 107,390,757 (GRCm39) |
V363E |
probably damaging |
Het |
| Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
| Cdh10 |
C |
T |
15: 19,013,605 (GRCm39) |
T735I |
probably damaging |
Het |
| Cds1 |
T |
A |
5: 101,962,302 (GRCm39) |
C306S |
possibly damaging |
Het |
| Cfap251 |
T |
C |
5: 123,440,486 (GRCm39) |
Y1091H |
probably damaging |
Het |
| Clasp2 |
T |
C |
9: 113,709,088 (GRCm39) |
C644R |
probably damaging |
Het |
| Coil |
T |
C |
11: 88,872,580 (GRCm39) |
S314P |
probably benign |
Het |
| D630045J12Rik |
T |
A |
6: 38,173,329 (GRCm39) |
M280L |
probably benign |
Het |
| Dmxl2 |
C |
T |
9: 54,352,717 (GRCm39) |
V795M |
probably damaging |
Het |
| Dock10 |
A |
G |
1: 80,511,510 (GRCm39) |
V1533A |
probably damaging |
Het |
| Fbxo40 |
T |
C |
16: 36,789,536 (GRCm39) |
N525D |
possibly damaging |
Het |
| Fezf2 |
T |
C |
14: 12,344,494 (GRCm38) |
E231G |
probably damaging |
Het |
| Fmn1 |
T |
C |
2: 113,412,470 (GRCm39) |
V870A |
possibly damaging |
Het |
| Ifi44 |
A |
G |
3: 151,438,019 (GRCm39) |
*423Q |
probably null |
Het |
| Invs |
T |
C |
4: 48,390,029 (GRCm39) |
V173A |
probably damaging |
Het |
| Krt88 |
A |
G |
15: 101,350,486 (GRCm39) |
|
probably benign |
Het |
| Mctp2 |
A |
T |
7: 71,739,953 (GRCm39) |
Y812* |
probably null |
Het |
| Nutm2 |
T |
G |
13: 50,625,075 (GRCm39) |
M264R |
probably damaging |
Het |
| Or2d2 |
A |
G |
7: 106,728,244 (GRCm39) |
S119P |
probably damaging |
Het |
| Or8u8 |
T |
C |
2: 86,011,939 (GRCm39) |
|
probably null |
Het |
| Pcnx1 |
G |
A |
12: 81,964,688 (GRCm39) |
R285Q |
probably damaging |
Het |
| Pi16 |
G |
T |
17: 29,545,269 (GRCm39) |
K177N |
probably damaging |
Het |
| Pigg |
C |
T |
5: 108,466,794 (GRCm39) |
S225F |
possibly damaging |
Het |
| Prrc2b |
T |
A |
2: 32,103,429 (GRCm39) |
V969E |
probably damaging |
Het |
| Rab4b |
A |
C |
7: 26,872,154 (GRCm39) |
Y189D |
probably benign |
Het |
| Ran |
A |
G |
5: 129,099,246 (GRCm39) |
N143D |
possibly damaging |
Het |
| Rfc4 |
A |
T |
16: 22,933,219 (GRCm39) |
F286L |
probably damaging |
Het |
| Sel1l2 |
T |
C |
2: 140,089,859 (GRCm39) |
Y418C |
probably damaging |
Het |
| Slc13a1 |
T |
C |
6: 24,103,482 (GRCm39) |
I354V |
probably benign |
Het |
| Slc7a2 |
A |
T |
8: 41,361,193 (GRCm39) |
T386S |
probably benign |
Het |
| Tm2d2 |
G |
T |
8: 25,512,787 (GRCm39) |
V212F |
probably benign |
Het |
| Tmem247 |
A |
T |
17: 87,225,721 (GRCm39) |
N54Y |
probably damaging |
Het |
| Txnrd3 |
T |
A |
6: 89,633,117 (GRCm39) |
Y206N |
probably benign |
Het |
| Uba5 |
T |
C |
9: 103,931,259 (GRCm39) |
|
probably benign |
Het |
| Vmn2r54 |
A |
G |
7: 12,369,910 (GRCm39) |
L51P |
probably damaging |
Het |
| Zfp735 |
A |
G |
11: 73,601,319 (GRCm39) |
K88E |
probably benign |
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 |
|
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 |
2015-04-16 |
Incidental Mutation