Incidental Mutation 'R4476:Neto1'
| ID |
330575 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Neto1
|
| Ensembl Gene |
ENSMUSG00000050321 |
| Gene Name |
neuropilin (NRP) and tolloid (TLL)-like 1 |
| Synonyms |
C130005O10Rik |
| MMRRC Submission |
041733-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4476 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
86413077-86524843 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 86422798 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 85
(D85V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000057340
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058829]
|
| AlphaFold |
Q8R4I7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000058829
AA Change: D85V
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000057340
Gene: ENSMUSG00000050321
AA Change: D85V
| 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 |
0.3324 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.8%
- 20x: 94.2%
|
| Validation Efficiency |
98% (41/42) |
| 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: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acin1 |
T |
C |
14: 54,882,787 (GRCm39) |
R275G |
probably damaging |
Het |
| Actc1 |
T |
C |
2: 113,879,707 (GRCm39) |
T251A |
probably benign |
Het |
| Alpk1 |
T |
C |
3: 127,473,667 (GRCm39) |
T779A |
probably damaging |
Het |
| Arsb |
C |
T |
13: 93,944,103 (GRCm39) |
R265C |
probably damaging |
Het |
| Cntn6 |
A |
G |
6: 104,749,522 (GRCm39) |
E319G |
probably damaging |
Het |
| Cracr2a |
T |
A |
6: 127,606,782 (GRCm39) |
N275K |
probably benign |
Het |
| Crispld1 |
G |
T |
1: 17,817,734 (GRCm39) |
W212C |
probably damaging |
Het |
| Exosc10 |
G |
A |
4: 148,649,781 (GRCm39) |
D404N |
probably damaging |
Het |
| Gfpt2 |
T |
C |
11: 49,715,169 (GRCm39) |
V388A |
probably benign |
Het |
| Gm14401 |
C |
T |
2: 176,778,570 (GRCm39) |
R219* |
probably null |
Het |
| Hivep2 |
C |
A |
10: 14,004,713 (GRCm39) |
T437K |
probably benign |
Het |
| Itgb1bp1 |
T |
C |
12: 21,320,957 (GRCm39) |
E178G |
probably benign |
Het |
| Kidins220 |
C |
T |
12: 25,061,000 (GRCm39) |
S826L |
probably damaging |
Het |
| Krt90 |
T |
C |
15: 101,465,718 (GRCm39) |
D301G |
probably damaging |
Het |
| Me3 |
T |
A |
7: 89,389,068 (GRCm39) |
V124E |
probably damaging |
Het |
| Nedd4 |
C |
T |
9: 72,578,521 (GRCm39) |
R78* |
probably null |
Het |
| Or12k8 |
G |
A |
2: 36,975,073 (GRCm39) |
S229L |
probably damaging |
Het |
| Or13a24 |
T |
C |
7: 140,154,842 (GRCm39) |
Y259H |
probably damaging |
Het |
| Or4g7 |
T |
A |
2: 111,310,009 (GRCm39) |
D293E |
possibly damaging |
Het |
| Parn |
A |
G |
16: 13,482,549 (GRCm39) |
S100P |
probably benign |
Het |
| Pkd1 |
A |
G |
17: 24,795,500 (GRCm39) |
E2331G |
probably damaging |
Het |
| Rab22a |
C |
T |
2: 173,537,056 (GRCm39) |
T85M |
probably damaging |
Het |
| Rab23 |
A |
G |
1: 33,763,973 (GRCm39) |
|
probably benign |
Het |
| Sim2 |
T |
C |
16: 93,926,650 (GRCm39) |
S625P |
probably benign |
Het |
| Sox18 |
T |
C |
2: 181,312,669 (GRCm39) |
K154R |
probably damaging |
Het |
| Tanc1 |
A |
G |
2: 59,672,340 (GRCm39) |
|
probably null |
Het |
| Ugt1a10 |
TAAAAAAAAA |
TAAAAAAA |
1: 88,143,650 (GRCm39) |
|
probably benign |
Het |
| Zfp667 |
A |
G |
7: 6,307,598 (GRCm39) |
K89E |
possibly 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 |
|
|
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 |
|
|
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'- TTAGCGAACGTATCCCTACAAC -3'
(R):5'- TCGAGCTGAAAATCCCATAGAC -3'
Sequencing Primer
(F):5'- ACAACAGTAAGCATCTTCTTCTGTGC -3'
(R):5'- TAGACTCCAGCTCGCCATCAG -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation