Incidental Mutation 'R5544:Neto2'
ID |
436153 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Neto2
|
Ensembl Gene |
ENSMUSG00000036902 |
Gene Name |
neuropilin (NRP) and tolloid (TLL)-like 2 |
Synonyms |
5530601C23Rik |
MMRRC Submission |
043102-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.164)
|
Stock # |
R5544 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
86363217-86427553 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 86374506 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 241
(V241A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000150062
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109686]
[ENSMUST00000209479]
[ENSMUST00000216286]
|
AlphaFold |
Q8BNJ6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000109686
AA Change: V269A
PolyPhen 2
Score 0.173 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000105308 Gene: ENSMUSG00000036902 AA Change: V269A
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: V234A
PolyPhen 2
Score 0.478 (Sensitivity: 0.89; Specificity: 0.90)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000215046
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000216286
AA Change: V241A
PolyPhen 2
Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.2%
|
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: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts8 |
G |
A |
9: 30,863,999 (GRCm39) |
A372T |
probably damaging |
Het |
Ap4m1 |
A |
G |
5: 138,176,632 (GRCm39) |
T411A |
probably benign |
Het |
Arid3b |
T |
A |
9: 57,705,380 (GRCm39) |
K274* |
probably null |
Het |
Bcan |
A |
G |
3: 87,900,360 (GRCm39) |
|
probably null |
Het |
Birc6 |
A |
C |
17: 74,977,369 (GRCm39) |
N4388T |
probably damaging |
Het |
C9 |
T |
A |
15: 6,526,508 (GRCm39) |
V514D |
probably damaging |
Het |
Cdk2 |
A |
C |
10: 128,535,008 (GRCm39) |
D336E |
probably benign |
Het |
Corin |
A |
T |
5: 72,462,357 (GRCm39) |
Y825* |
probably null |
Het |
Cyp17a1 |
A |
G |
19: 46,661,093 (GRCm39) |
Y64H |
probably damaging |
Het |
Dock4 |
T |
G |
12: 40,884,701 (GRCm39) |
I1735S |
possibly damaging |
Het |
Dock7 |
T |
C |
4: 98,855,494 (GRCm39) |
H1486R |
probably damaging |
Het |
Fam171b |
C |
A |
2: 83,685,871 (GRCm39) |
A185D |
possibly damaging |
Het |
Fbxl13 |
A |
G |
5: 21,729,489 (GRCm39) |
I441T |
probably damaging |
Het |
Gm7347 |
T |
A |
5: 26,260,016 (GRCm39) |
D178V |
possibly damaging |
Het |
Greb1 |
C |
A |
12: 16,723,797 (GRCm39) |
C1884F |
probably damaging |
Het |
Kdr |
G |
A |
5: 76,121,403 (GRCm39) |
R536* |
probably null |
Het |
Lamc2 |
T |
C |
1: 152,999,799 (GRCm39) |
T1187A |
possibly damaging |
Het |
Mal |
T |
A |
2: 127,476,937 (GRCm39) |
H142L |
probably damaging |
Het |
Map4k2 |
A |
C |
19: 6,395,944 (GRCm39) |
|
probably null |
Het |
Morn4 |
T |
C |
19: 42,064,686 (GRCm39) |
T101A |
possibly damaging |
Het |
Nprl2 |
T |
C |
9: 107,421,808 (GRCm39) |
V232A |
probably benign |
Het |
Pcdhb13 |
T |
C |
18: 37,576,573 (GRCm39) |
V317A |
possibly damaging |
Het |
Pcdhb17 |
T |
A |
18: 37,620,474 (GRCm39) |
C755S |
possibly damaging |
Het |
Pgc |
A |
G |
17: 48,043,429 (GRCm39) |
D259G |
probably benign |
Het |
Ptprh |
C |
A |
7: 4,583,909 (GRCm39) |
E228* |
probably null |
Het |
R3hdml |
A |
G |
2: 163,340,342 (GRCm39) |
T170A |
probably damaging |
Het |
Retreg2 |
T |
G |
1: 75,121,333 (GRCm39) |
*174G |
probably null |
Het |
Rps6ka1 |
A |
G |
4: 133,599,326 (GRCm39) |
S34P |
probably benign |
Het |
Rptn |
A |
G |
3: 93,305,780 (GRCm39) |
T1038A |
possibly damaging |
Het |
Sel1l3 |
A |
T |
5: 53,357,644 (GRCm39) |
V116D |
probably damaging |
Het |
Sidt2 |
A |
T |
9: 45,855,753 (GRCm39) |
Y509N |
probably damaging |
Het |
Slc16a11 |
T |
A |
11: 70,105,826 (GRCm39) |
|
probably null |
Het |
Thsd7a |
G |
T |
6: 12,379,470 (GRCm39) |
Q985K |
possibly damaging |
Het |
Ttn |
T |
C |
2: 76,556,882 (GRCm39) |
N30041S |
probably benign |
Het |
Vmn1r231 |
A |
G |
17: 21,110,840 (GRCm39) |
I25T |
probably damaging |
Het |
Wdr81 |
T |
C |
11: 75,332,623 (GRCm39) |
D1926G |
probably damaging |
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 |
|
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GTCAAAAGGTAGGTATTCAGTAAGC -3'
(R):5'- TTCCTTTACCTGTTAATACCATGGG -3'
Sequencing Primer
(F):5'- TCAGTAAGCATATTGTGAATGAGTG -3'
(R):5'- GGAATATAAACACCTCTTAT -3'
|
Posted On |
2016-10-24 |