Incidental Mutation 'R9597:Neto1'
| ID |
723357 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Neto1
|
| Ensembl Gene |
ENSMUSG00000050321 |
| Gene Name |
neuropilin (NRP) and tolloid (TLL)-like 1 |
| Synonyms |
C130005O10Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9597 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
86413077-86524843 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 86422821 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 93
(S93P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000057340
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058829]
|
| AlphaFold |
Q8R4I7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000058829
AA Change: S93P
PolyPhen 2
Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000057340
Gene: ENSMUSG00000050321
AA Change: S93P
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| 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 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc9 |
T |
C |
6: 142,578,813 (GRCm39) |
E952G |
possibly damaging |
Het |
| Abhd12 |
T |
C |
2: 150,688,198 (GRCm39) |
I170V |
probably benign |
Het |
| Ankmy1 |
A |
G |
1: 92,804,773 (GRCm39) |
V840A |
|
Het |
| Arhgap18 |
T |
A |
10: 26,788,655 (GRCm39) |
V589D |
probably damaging |
Het |
| Armc7 |
A |
G |
11: 115,379,712 (GRCm39) |
T137A |
probably benign |
Het |
| Bcl9 |
A |
T |
3: 97,117,323 (GRCm39) |
I457K |
probably benign |
Het |
| Ccdc148 |
A |
T |
2: 58,893,397 (GRCm39) |
Y78N |
probably benign |
Het |
| Ccdc24 |
A |
G |
4: 117,729,348 (GRCm39) |
V43A |
probably damaging |
Het |
| Cep68 |
G |
A |
11: 20,188,506 (GRCm39) |
T633I |
probably benign |
Het |
| Cfap157 |
T |
C |
2: 32,669,753 (GRCm39) |
I277V |
probably benign |
Het |
| Clec4a2 |
C |
A |
6: 123,116,291 (GRCm39) |
A152E |
probably benign |
Het |
| Crocc2 |
G |
T |
1: 93,118,217 (GRCm39) |
C380F |
probably benign |
Het |
| Cyp2ab1 |
A |
T |
16: 20,135,340 (GRCm39) |
M54K |
probably benign |
Het |
| Fbn1 |
C |
A |
2: 125,187,906 (GRCm39) |
R1541L |
probably benign |
Het |
| Fem1c |
G |
T |
18: 46,638,362 (GRCm39) |
L547I |
probably damaging |
Het |
| Firrm |
A |
T |
1: 163,804,340 (GRCm39) |
L331Q |
probably null |
Het |
| Fras1 |
A |
G |
5: 96,888,551 (GRCm39) |
D2699G |
probably damaging |
Het |
| Inpp5f |
A |
C |
7: 128,278,515 (GRCm39) |
D435A |
possibly damaging |
Het |
| Kcnn2 |
T |
C |
18: 45,816,149 (GRCm39) |
V460A |
probably benign |
Het |
| Krt81 |
T |
C |
15: 101,358,919 (GRCm39) |
I278V |
probably benign |
Het |
| Lrp2 |
T |
A |
2: 69,260,703 (GRCm39) |
E4509D |
probably benign |
Het |
| Mfsd14b |
C |
A |
13: 65,221,414 (GRCm39) |
V293L |
probably benign |
Het |
| Myh2 |
G |
A |
11: 67,064,302 (GRCm39) |
D86N |
possibly damaging |
Het |
| Naip6 |
T |
C |
13: 100,436,646 (GRCm39) |
I626V |
probably benign |
Het |
| Obscn |
G |
T |
11: 59,027,009 (GRCm39) |
R65S |
probably benign |
Het |
| Or52e8 |
A |
G |
7: 104,624,413 (GRCm39) |
F264L |
probably benign |
Het |
| Pcdh7 |
A |
G |
5: 57,877,197 (GRCm39) |
T251A |
possibly damaging |
Het |
| Pramel15 |
A |
T |
4: 144,103,526 (GRCm39) |
V200E |
probably damaging |
Het |
| Prdm14 |
T |
C |
1: 13,192,657 (GRCm39) |
K361E |
possibly damaging |
Het |
| Rgs2 |
A |
G |
1: 143,877,826 (GRCm39) |
F125L |
probably damaging |
Het |
| Scd2 |
C |
A |
19: 44,288,246 (GRCm39) |
Q213K |
probably damaging |
Het |
| Slc23a2 |
C |
A |
2: 131,904,098 (GRCm39) |
R454L |
probably damaging |
Het |
| Smg1 |
T |
C |
7: 117,812,270 (GRCm39) |
D31G |
unknown |
Het |
| Spata7 |
T |
A |
12: 98,600,559 (GRCm39) |
N57K |
probably damaging |
Het |
| Spef2 |
T |
C |
15: 9,599,897 (GRCm39) |
M1983V |
unknown |
Het |
| Srcap |
G |
T |
7: 127,121,219 (GRCm39) |
R184L |
possibly damaging |
Het |
| Tafa4 |
A |
G |
6: 96,991,429 (GRCm39) |
W7R |
probably benign |
Het |
| Tbpl2 |
A |
G |
2: 23,977,296 (GRCm39) |
S241P |
probably damaging |
Het |
| Tcaim |
A |
G |
9: 122,637,830 (GRCm39) |
|
probably null |
Het |
| Tep1 |
G |
T |
14: 51,100,465 (GRCm39) |
A351E |
probably damaging |
Het |
| Tiparp |
A |
G |
3: 65,438,701 (GRCm39) |
T6A |
probably benign |
Het |
| Tmem62 |
T |
C |
2: 120,829,567 (GRCm39) |
F437L |
probably benign |
Het |
| Tpp1 |
A |
T |
7: 105,396,714 (GRCm39) |
H434Q |
probably benign |
Het |
| Vmn2r17 |
A |
G |
5: 109,575,669 (GRCm39) |
Y180C |
probably damaging |
Het |
| Vmn2r52 |
A |
T |
7: 9,904,719 (GRCm39) |
Y373* |
probably null |
Het |
| Vwa1 |
G |
A |
4: 155,857,336 (GRCm39) |
P154L |
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 |
|
|
R6887:Neto1
|
UTSW |
18 |
86,516,760 (GRCm39) |
missense |
probably benign |
0.16 |
|
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 |
|
|
R9674:Neto1
|
UTSW |
18 |
86,491,827 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTCTTTAGCGAACGTATCCC -3'
(R):5'- CCAGGTGTGAAATTATATCGAGC -3'
Sequencing Primer
(F):5'- ACAACAGTAAGCATCTTCTTCTGTGC -3'
(R):5'- TATCGAGCTGAAAATCCCATAGACTC -3'
|
| Posted On |
2022-08-09 |
Incidental Mutation