Incidental Mutation 'R9384:Neto1'
| ID |
710233 |
| 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 # |
R9384 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
86413077-86524843 bp(+) (GRCm39) |
| Type of Mutation |
start gained |
| DNA Base Change (assembly) |
A to T
at 86413965 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000057340
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058829]
|
| AlphaFold |
Q8R4I7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000058829
|
| SMART Domains |
Protein: ENSMUSP00000057340
Gene: ENSMUSG00000050321
| 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: 99.0%
|
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A3galt2 |
G |
A |
4: 128,655,851 (GRCm39) |
C73Y |
probably damaging |
Het |
| Agrn |
C |
T |
4: 156,257,106 (GRCm39) |
A1213T |
probably damaging |
Het |
| Arhgef10 |
T |
C |
8: 15,041,067 (GRCm39) |
L1079P |
probably damaging |
Het |
| Cdcp3 |
T |
C |
7: 130,904,404 (GRCm39) |
V2374A |
unknown |
Het |
| Celsr1 |
G |
T |
15: 85,917,286 (GRCm39) |
S229* |
probably null |
Het |
| Coro6 |
A |
G |
11: 77,360,218 (GRCm39) |
E436G |
probably benign |
Het |
| D430041D05Rik |
A |
G |
2: 104,087,920 (GRCm39) |
V352A |
probably benign |
Het |
| Dcbld2 |
C |
T |
16: 58,285,926 (GRCm39) |
T695I |
probably damaging |
Het |
| Dclk1 |
A |
C |
3: 55,154,936 (GRCm39) |
Q122P |
possibly damaging |
Het |
| Dsel |
C |
A |
1: 111,787,863 (GRCm39) |
E891* |
probably null |
Het |
| Eral1 |
A |
T |
11: 77,969,130 (GRCm39) |
N123K |
probably damaging |
Het |
| Fzd6 |
C |
A |
15: 38,895,102 (GRCm39) |
L423M |
probably damaging |
Het |
| Fzd6 |
T |
G |
15: 38,895,103 (GRCm39) |
L423R |
probably damaging |
Het |
| Galntl6 |
G |
T |
8: 58,415,461 (GRCm39) |
L231I |
probably damaging |
Het |
| Gm7137 |
A |
G |
10: 77,623,614 (GRCm39) |
S141P |
unknown |
Het |
| Grm5 |
T |
C |
7: 87,723,518 (GRCm39) |
Y603H |
probably damaging |
Het |
| Hcar2 |
A |
T |
5: 124,002,597 (GRCm39) |
F302Y |
probably benign |
Het |
| Hs3st1 |
T |
G |
5: 39,771,962 (GRCm39) |
D227A |
possibly damaging |
Het |
| Igkv7-33 |
G |
T |
6: 70,036,174 (GRCm39) |
Q4K |
possibly damaging |
Het |
| Itprid1 |
A |
T |
6: 55,952,613 (GRCm39) |
Q852L |
probably damaging |
Het |
| Kcp |
C |
T |
6: 29,496,618 (GRCm39) |
|
probably null |
Het |
| Lrrc23 |
T |
C |
6: 124,755,189 (GRCm39) |
K116R |
possibly damaging |
Het |
| Lrriq1 |
T |
A |
10: 103,006,458 (GRCm39) |
R1222S |
probably benign |
Het |
| Nav3 |
T |
A |
10: 109,554,158 (GRCm39) |
I1735F |
probably damaging |
Het |
| Nlrp9a |
T |
A |
7: 26,258,158 (GRCm39) |
L592Q |
probably damaging |
Het |
| Or1e30 |
C |
A |
11: 73,677,796 (GRCm39) |
Q11K |
probably benign |
Het |
| Or5t7 |
T |
A |
2: 86,507,357 (GRCm39) |
T107S |
probably benign |
Het |
| Pcdhb20 |
T |
A |
18: 37,638,024 (GRCm39) |
H183Q |
probably benign |
Het |
| Pde4b |
A |
G |
4: 102,112,448 (GRCm39) |
T11A |
probably benign |
Het |
| Pou2af3 |
T |
C |
9: 51,183,638 (GRCm39) |
N112S |
probably benign |
Het |
| Ptcd3 |
A |
G |
6: 71,874,110 (GRCm39) |
S234P |
possibly damaging |
Het |
| Rtn4 |
T |
C |
11: 29,658,471 (GRCm39) |
V875A |
probably benign |
Het |
| Slc12a8 |
T |
A |
16: 33,466,947 (GRCm39) |
C485S |
probably benign |
Het |
| Smc1b |
A |
G |
15: 84,950,455 (GRCm39) |
S1190P |
probably damaging |
Het |
| Sorbs2 |
A |
G |
8: 46,258,864 (GRCm39) |
R1134G |
probably benign |
Het |
| Sugt1 |
T |
C |
14: 79,866,388 (GRCm39) |
Y336H |
probably damaging |
Het |
| Tas2r134 |
A |
T |
2: 51,518,034 (GRCm39) |
Y171F |
probably damaging |
Het |
| Tdrd6 |
A |
T |
17: 43,937,783 (GRCm39) |
D1088E |
probably benign |
Het |
| Tgfbrap1 |
A |
T |
1: 43,095,912 (GRCm39) |
W509R |
probably damaging |
Het |
| Tmem115 |
T |
C |
9: 107,411,742 (GRCm39) |
V22A |
possibly damaging |
Het |
| Tmem260 |
A |
G |
14: 48,724,276 (GRCm39) |
T223A |
probably benign |
Het |
| Tmprss6 |
G |
A |
15: 78,328,302 (GRCm39) |
H565Y |
probably damaging |
Het |
| Ubr4 |
A |
G |
4: 139,194,631 (GRCm39) |
S1175G |
unknown |
Het |
| Uspl1 |
T |
C |
5: 149,151,349 (GRCm39) |
S850P |
probably benign |
Het |
| Vmn2r11 |
C |
A |
5: 109,201,266 (GRCm39) |
A413S |
probably damaging |
Het |
| Vmn2r19 |
T |
G |
6: 123,292,923 (GRCm39) |
S322A |
probably benign |
Het |
| Zfp606 |
T |
A |
7: 12,227,935 (GRCm39) |
C685* |
probably null |
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 |
|
|
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'- TAATGCGAGCGTCATGGTGG -3'
(R):5'- AAGTTTACATCTGCCCCAGAC -3'
Sequencing Primer
(F):5'- AGCGTCATGGTGGAGATGC -3'
(R):5'- AGACTCCAAGGGACTGCG -3'
|
| Posted On |
2022-04-18 |
Incidental Mutation