Incidental Mutation 'R6887:Neto1'
| ID |
537016 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Neto1
|
| Ensembl Gene |
ENSMUSG00000050321 |
| Gene Name |
neuropilin (NRP) and tolloid (TLL)-like 1 |
| Synonyms |
C130005O10Rik |
| MMRRC Submission |
044981-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6887 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
86413077-86524843 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 86516760 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 359
(V359A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000057340
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058829]
|
| AlphaFold |
Q8R4I7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000058829
AA Change: V359A
PolyPhen 2
Score 0.162 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000057340
Gene: ENSMUSG00000050321
AA Change: V359A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
CUB
|
41 |
155 |
2.06e-35 |
SMART |
|
CUB
|
172 |
287 |
3.1e-7 |
SMART |
|
LDLa
|
291 |
328 |
3.11e-3 |
SMART |
|
transmembrane domain
|
341 |
363 |
N/A |
INTRINSIC |
|
low complexity region
|
485 |
497 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.1%
|
| Validation Efficiency |
100% (39/39) |
| 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 mice encodes a protein that plays a critical role in spatial learning and memory by regulating the function of synaptic N-methyl-D-aspartic acid receptor complexes in the hippocampus. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011]
PHENOTYPE: Mice homozygous for a null allele exhibit depressed long term potentiation, reduced NMDAR excitatory postsynaptic potentiation, and decreased spartial learning and working memory. [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 |
|---|
| Acan |
G |
A |
7: 78,742,231 (GRCm39) |
V543I |
probably damaging |
Het |
| Adcy5 |
A |
G |
16: 35,118,960 (GRCm39) |
I1104V |
possibly damaging |
Het |
| Adgrl4 |
A |
T |
3: 151,248,370 (GRCm39) |
I681F |
possibly damaging |
Het |
| Adgrv1 |
T |
A |
13: 81,676,820 (GRCm39) |
M2004L |
probably benign |
Het |
| Anapc1 |
A |
G |
2: 128,501,688 (GRCm39) |
S785P |
possibly damaging |
Het |
| Ap3d1 |
A |
T |
10: 80,559,532 (GRCm39) |
I242N |
probably damaging |
Het |
| Arhgap5 |
T |
C |
12: 52,565,927 (GRCm39) |
L966P |
probably benign |
Het |
| Atp8a1 |
T |
C |
5: 67,895,794 (GRCm39) |
T547A |
probably benign |
Het |
| Cadps |
A |
G |
14: 12,505,811 (GRCm38) |
F753S |
probably damaging |
Het |
| Cdc20b |
T |
C |
13: 113,215,187 (GRCm39) |
S252P |
possibly damaging |
Het |
| Cep63 |
A |
G |
9: 102,503,126 (GRCm39) |
|
probably benign |
Het |
| Chrna5 |
G |
T |
9: 54,912,417 (GRCm39) |
V302L |
probably benign |
Het |
| Crtc2 |
A |
G |
3: 90,168,378 (GRCm39) |
T374A |
probably damaging |
Het |
| Dmtf1 |
T |
G |
5: 9,187,149 (GRCm39) |
D140A |
probably damaging |
Het |
| Exosc8 |
C |
T |
3: 54,641,120 (GRCm39) |
V39M |
probably damaging |
Het |
| Fam135b |
A |
C |
15: 71,335,164 (GRCm39) |
S677A |
probably damaging |
Het |
| Hif1an |
T |
C |
19: 44,551,828 (GRCm39) |
Y93H |
probably damaging |
Het |
| Hrc |
T |
C |
7: 44,985,088 (GRCm39) |
F80L |
probably benign |
Het |
| Jmjd1c |
A |
G |
10: 67,025,599 (GRCm39) |
T139A |
possibly damaging |
Het |
| Kdr |
T |
G |
5: 76,129,111 (GRCm39) |
R178S |
probably benign |
Het |
| Lrrc61 |
A |
C |
6: 48,545,366 (GRCm39) |
N63T |
probably damaging |
Het |
| Mrc1 |
C |
T |
2: 14,330,048 (GRCm39) |
A1219V |
possibly damaging |
Het |
| Ngly1 |
T |
C |
14: 16,281,836 (GRCm38) |
I364T |
probably benign |
Het |
| Nisch |
C |
T |
14: 30,907,301 (GRCm39) |
|
probably benign |
Het |
| Or2y8 |
C |
A |
11: 52,036,179 (GRCm39) |
M59I |
probably benign |
Het |
| Prrc2a |
T |
C |
17: 35,374,651 (GRCm39) |
D1333G |
probably damaging |
Het |
| Raly |
G |
T |
2: 154,703,830 (GRCm39) |
V134F |
probably damaging |
Het |
| Rbm6 |
T |
C |
9: 107,729,430 (GRCm39) |
Y406C |
probably damaging |
Het |
| Robo4 |
G |
C |
9: 37,313,363 (GRCm39) |
E6Q |
possibly damaging |
Het |
| Scnn1g |
C |
A |
7: 121,359,667 (GRCm39) |
S383R |
probably benign |
Het |
| Sgtb |
T |
C |
13: 104,247,659 (GRCm39) |
W13R |
probably benign |
Het |
| Slit3 |
T |
C |
11: 35,435,633 (GRCm39) |
|
probably null |
Het |
| Tbc1d32 |
G |
A |
10: 56,027,907 (GRCm39) |
Q732* |
probably null |
Het |
| Tek |
T |
A |
4: 94,693,181 (GRCm39) |
C247S |
probably damaging |
Het |
| Tmf1 |
A |
T |
6: 97,153,799 (GRCm39) |
D91E |
probably damaging |
Het |
| Usp39 |
A |
G |
6: 72,310,140 (GRCm39) |
L326P |
probably damaging |
Het |
| Vmn2r7 |
A |
T |
3: 64,598,248 (GRCm39) |
C770S |
probably damaging |
Het |
| Wdr31 |
C |
T |
4: 62,375,802 (GRCm39) |
G58R |
probably benign |
Het |
| Zfyve26 |
A |
G |
12: 79,313,223 (GRCm39) |
I54T |
probably damaging |
Het |
|
| Other mutations in Neto1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00764:Neto1
|
APN |
18 |
86,516,937 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01505:Neto1
|
APN |
18 |
86,491,814 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL01511:Neto1
|
APN |
18 |
86,414,033 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
IGL02704:Neto1
|
APN |
18 |
86,491,948 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03072:Neto1
|
APN |
18 |
86,516,714 (GRCm39) |
missense |
probably benign |
0.23 |
|
R0119:Neto1
|
UTSW |
18 |
86,479,445 (GRCm39) |
missense |
probably benign |
0.17 |
|
R0136:Neto1
|
UTSW |
18 |
86,479,445 (GRCm39) |
missense |
probably benign |
0.17 |
|
R0299:Neto1
|
UTSW |
18 |
86,479,445 (GRCm39) |
missense |
probably benign |
0.17 |
|
R0603:Neto1
|
UTSW |
18 |
86,491,785 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0633:Neto1
|
UTSW |
18 |
86,422,854 (GRCm39) |
nonsense |
probably null |
|
|
R0657:Neto1
|
UTSW |
18 |
86,479,445 (GRCm39) |
missense |
probably benign |
0.17 |
|
R1395:Neto1
|
UTSW |
18 |
86,416,144 (GRCm39) |
splice site |
probably benign |
|
|
R1648:Neto1
|
UTSW |
18 |
86,518,179 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1852:Neto1
|
UTSW |
18 |
86,414,009 (GRCm39) |
start codon destroyed |
probably null |
0.53 |
|
R2249:Neto1
|
UTSW |
18 |
86,479,399 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4418:Neto1
|
UTSW |
18 |
86,422,981 (GRCm39) |
missense |
probably benign |
|
|
R4476:Neto1
|
UTSW |
18 |
86,422,798 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4676:Neto1
|
UTSW |
18 |
86,416,427 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R5095:Neto1
|
UTSW |
18 |
86,416,406 (GRCm39) |
missense |
probably benign |
|
|
R5282:Neto1
|
UTSW |
18 |
86,422,998 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5337:Neto1
|
UTSW |
18 |
86,416,434 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5400:Neto1
|
UTSW |
18 |
86,414,033 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R5435:Neto1
|
UTSW |
18 |
86,416,388 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5632:Neto1
|
UTSW |
18 |
86,516,768 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5755:Neto1
|
UTSW |
18 |
86,517,219 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6272:Neto1
|
UTSW |
18 |
86,512,940 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6486:Neto1
|
UTSW |
18 |
86,479,371 (GRCm39) |
missense |
probably benign |
|
|
R6505:Neto1
|
UTSW |
18 |
86,516,699 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R6526:Neto1
|
UTSW |
18 |
86,516,873 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R6582:Neto1
|
UTSW |
18 |
86,512,985 (GRCm39) |
nonsense |
probably null |
|
|
R7452:Neto1
|
UTSW |
18 |
86,517,056 (GRCm39) |
missense |
probably benign |
|
|
R7469:Neto1
|
UTSW |
18 |
86,516,813 (GRCm39) |
missense |
probably benign |
|
|
R7795:Neto1
|
UTSW |
18 |
86,479,198 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8912:Neto1
|
UTSW |
18 |
86,479,173 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9191:Neto1
|
UTSW |
18 |
86,516,781 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9196:Neto1
|
UTSW |
18 |
86,413,965 (GRCm39) |
start gained |
probably benign |
|
|
R9384:Neto1
|
UTSW |
18 |
86,413,965 (GRCm39) |
start gained |
probably benign |
|
|
R9597:Neto1
|
UTSW |
18 |
86,422,821 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9674:Neto1
|
UTSW |
18 |
86,491,827 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGGAAAATTTTATGCTCAGCCC -3'
(R):5'- GCATTTGGAAGATGATCTCCTCAG -3'
Sequencing Primer
(F):5'- ATGCTCAGCCCATTTTGCTTTAAAG -3'
(R):5'- TGGAAGATGATCTCCTCAGTTTATG -3'
|
| Posted On |
2018-10-18 |
Incidental Mutation