Incidental Mutation 'R5282:Neto1'
| ID |
402842 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Neto1
|
| Ensembl Gene |
ENSMUSG00000050321 |
| Gene Name |
neuropilin (NRP) and tolloid (TLL)-like 1 |
| Synonyms |
C130005O10Rik |
| MMRRC Submission |
042867-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5282 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
86413077-86524843 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 86422998 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 152
(Y152H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000057340
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058829]
|
| AlphaFold |
Q8R4I7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000058829
AA Change: Y152H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000057340
Gene: ENSMUSG00000050321
AA Change: Y152H
| 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: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 96.0%
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700102P08Rik |
T |
A |
9: 108,270,439 (GRCm39) |
M1K |
probably null |
Het |
| 2810021J22Rik |
T |
C |
11: 58,771,166 (GRCm39) |
L216S |
possibly damaging |
Het |
| 4933405O20Rik |
G |
A |
7: 50,249,220 (GRCm39) |
E85K |
possibly damaging |
Het |
| Agrn |
A |
G |
4: 156,257,492 (GRCm39) |
F1153L |
probably damaging |
Het |
| Cbx8 |
A |
G |
11: 118,929,742 (GRCm39) |
S284P |
probably damaging |
Het |
| Cep128 |
A |
G |
12: 91,305,893 (GRCm39) |
L170P |
probably damaging |
Het |
| Cyp4f14 |
T |
A |
17: 33,126,959 (GRCm39) |
T324S |
probably damaging |
Het |
| Daw1 |
G |
T |
1: 83,170,419 (GRCm39) |
V244L |
probably benign |
Het |
| Eef2kmt |
A |
G |
16: 5,063,222 (GRCm39) |
V306A |
probably benign |
Het |
| Enah |
A |
T |
1: 181,763,293 (GRCm39) |
|
probably null |
Het |
| Fam171b |
T |
C |
2: 83,683,949 (GRCm39) |
|
probably null |
Het |
| Fsip2 |
C |
T |
2: 82,808,925 (GRCm39) |
T1748I |
possibly damaging |
Het |
| Gabrg2 |
C |
T |
11: 41,862,559 (GRCm39) |
G175D |
probably damaging |
Het |
| Gtf2h3 |
C |
T |
5: 124,722,360 (GRCm39) |
T121I |
probably benign |
Het |
| Hmcn1 |
G |
T |
1: 150,458,047 (GRCm39) |
N33K |
probably damaging |
Het |
| Incenp |
T |
A |
19: 9,855,770 (GRCm39) |
E514V |
unknown |
Het |
| Kank3 |
T |
C |
17: 34,036,917 (GRCm39) |
S74P |
probably benign |
Het |
| Lrriq1 |
G |
T |
10: 103,051,206 (GRCm39) |
N515K |
probably benign |
Het |
| Mfsd13b |
G |
A |
7: 120,591,056 (GRCm39) |
D266N |
probably damaging |
Het |
| Nub1 |
C |
A |
5: 24,900,533 (GRCm39) |
F145L |
probably benign |
Het |
| Nufip1 |
T |
C |
14: 76,351,715 (GRCm39) |
|
probably null |
Het |
| Pard6g |
T |
A |
18: 80,123,116 (GRCm39) |
V50E |
probably benign |
Het |
| Polr3a |
T |
C |
14: 24,505,009 (GRCm39) |
I1084V |
possibly damaging |
Het |
| Rapgef5 |
A |
C |
12: 117,703,379 (GRCm39) |
N431T |
probably damaging |
Het |
| Rassf9 |
A |
T |
10: 102,381,205 (GRCm39) |
T196S |
probably damaging |
Het |
| Rrp12 |
T |
C |
19: 41,865,029 (GRCm39) |
Y764C |
probably benign |
Het |
| Slfn8 |
T |
C |
11: 82,908,550 (GRCm39) |
|
probably null |
Het |
| Smox |
T |
A |
2: 131,363,026 (GRCm39) |
V265D |
probably damaging |
Het |
| Sult1b1 |
T |
C |
5: 87,678,510 (GRCm39) |
I105V |
probably benign |
Het |
| Sycp2 |
T |
C |
2: 178,045,554 (GRCm39) |
D22G |
probably damaging |
Het |
| Tbck |
G |
A |
3: 132,456,977 (GRCm39) |
M630I |
possibly damaging |
Het |
| Tenm4 |
G |
C |
7: 96,486,538 (GRCm39) |
G965R |
possibly damaging |
Het |
| Trappc10 |
G |
A |
10: 78,023,694 (GRCm39) |
T1258I |
probably damaging |
Het |
| Tssk1 |
G |
A |
16: 17,713,123 (GRCm39) |
G303S |
probably benign |
Het |
| Tstd2 |
T |
C |
4: 46,120,461 (GRCm39) |
Y313C |
probably damaging |
Het |
| Usp42 |
G |
A |
5: 143,707,401 (GRCm39) |
T260M |
probably damaging |
Het |
| Wdr43 |
T |
A |
17: 71,955,772 (GRCm39) |
V479E |
probably damaging |
Het |
| Xpo7 |
G |
A |
14: 70,921,171 (GRCm39) |
T599I |
probably damaging |
Het |
| Zfp553 |
A |
G |
7: 126,836,013 (GRCm39) |
K523E |
probably benign |
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 |
|
|
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 |
|
|
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'- TATTTTACAGCTGCCCCAAGG -3'
(R):5'- CCCCAGGATTTGTAAAGCATATGG -3'
Sequencing Primer
(F):5'- CTCAATCGAACCATCTTGGGAGTG -3'
(R):5'- TGGAAAGGAGATTTTTACAGATTGC -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation