Incidental Mutation 'R9191:Neto1'
| ID |
705624 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Neto1
|
| Ensembl Gene |
ENSMUSG00000050321 |
| Gene Name |
neuropilin (NRP) and tolloid (TLL)-like 1 |
| Synonyms |
C130005O10Rik |
| MMRRC Submission |
068952-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9191 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
86413077-86524843 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 86516781 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 366
(K366R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000057340
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058829]
|
| AlphaFold |
Q8R4I7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000058829
AA Change: K366R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000057340
Gene: ENSMUSG00000050321
AA Change: K366R
| 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: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
100% (36/36) |
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2900026A02Rik |
G |
A |
5: 113,330,564 (GRCm39) |
R1217W |
probably benign |
Het |
| Acta2 |
T |
A |
19: 34,222,480 (GRCm39) |
I214F |
possibly damaging |
Het |
| Adgra3 |
A |
C |
5: 50,145,006 (GRCm39) |
I529S |
possibly damaging |
Het |
| Aknad1 |
C |
T |
3: 108,664,093 (GRCm39) |
P352L |
probably damaging |
Het |
| Arhgap26 |
G |
A |
18: 39,439,893 (GRCm39) |
R277Q |
|
Het |
| Atm |
T |
C |
9: 53,438,590 (GRCm39) |
T127A |
probably benign |
Het |
| Bmp3 |
A |
T |
5: 99,019,946 (GRCm39) |
E123V |
probably damaging |
Het |
| Brap |
A |
G |
5: 121,823,350 (GRCm39) |
Q524R |
probably benign |
Het |
| Ccdc34 |
T |
A |
2: 109,852,301 (GRCm39) |
M141K |
possibly damaging |
Het |
| Crybb1 |
T |
A |
5: 112,417,199 (GRCm39) |
Y196N |
probably damaging |
Het |
| Dysf |
G |
A |
6: 84,045,048 (GRCm39) |
R293H |
probably benign |
Het |
| Ercc8 |
T |
A |
13: 108,305,914 (GRCm39) |
D96E |
probably benign |
Het |
| Intu |
T |
A |
3: 40,646,941 (GRCm39) |
L605M |
probably damaging |
Het |
| Kif21b |
A |
T |
1: 136,100,559 (GRCm39) |
K1547* |
probably null |
Het |
| Larp4b |
T |
A |
13: 9,220,830 (GRCm39) |
V693D |
probably benign |
Het |
| Msantd5f6 |
A |
T |
4: 73,319,670 (GRCm39) |
S269T |
probably damaging |
Het |
| Muc16 |
T |
C |
9: 18,556,106 (GRCm39) |
K3396E |
unknown |
Het |
| Myo3a |
A |
T |
2: 22,469,841 (GRCm39) |
R1475S |
probably benign |
Het |
| Nphp4 |
A |
T |
4: 152,640,687 (GRCm39) |
D1018V |
probably damaging |
Het |
| Nt5e |
T |
C |
9: 88,246,874 (GRCm39) |
M370T |
possibly damaging |
Het |
| Pappa2 |
A |
G |
1: 158,684,988 (GRCm39) |
V717A |
probably damaging |
Het |
| Pcdh15 |
T |
C |
10: 74,161,981 (GRCm39) |
I512T |
probably benign |
Het |
| Pcdhga7 |
A |
G |
18: 37,848,932 (GRCm39) |
Q313R |
probably benign |
Het |
| Prpf40b |
A |
T |
15: 99,202,064 (GRCm39) |
Q54L |
probably null |
Het |
| Rasgrf1 |
G |
A |
9: 89,883,923 (GRCm39) |
V943M |
probably damaging |
Het |
| Serbp1 |
A |
G |
6: 67,249,838 (GRCm39) |
Y244C |
probably benign |
Het |
| Slc23a4 |
A |
G |
6: 34,925,396 (GRCm39) |
S219P |
|
Het |
| Slc27a5 |
T |
G |
7: 12,725,247 (GRCm39) |
H400P |
probably damaging |
Het |
| Slc9c1 |
C |
A |
16: 45,420,144 (GRCm39) |
D1066E |
possibly damaging |
Het |
| Tap1 |
T |
C |
17: 34,413,956 (GRCm39) |
|
probably null |
Het |
| Tmem198 |
G |
A |
1: 75,456,426 (GRCm39) |
A27T |
unknown |
Het |
| Tpx2 |
A |
G |
2: 152,727,124 (GRCm39) |
T464A |
possibly damaging |
Het |
| Trav7-5 |
C |
G |
14: 53,768,615 (GRCm39) |
A61G |
probably benign |
Het |
| Trh |
G |
A |
6: 92,219,602 (GRCm39) |
T238I |
possibly damaging |
Het |
| Zbtb10 |
T |
C |
3: 9,330,295 (GRCm39) |
V551A |
probably damaging |
Het |
| Zfp668 |
T |
C |
7: 127,465,658 (GRCm39) |
T509A |
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 |
|
|
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 |
|
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'- AACACATGGTGGGTTGTTTCTCC -3'
(R):5'- AGGTTACTGCGACTGCCTTTC -3'
Sequencing Primer
(F):5'- CATGGTGGGTTGTTTCTCCTCTTG -3'
(R):5'- GCATTTGGAAGATGATCTCCTCAG -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation