Incidental Mutation 'R5095:Neto1'
ID |
395852 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Neto1
|
Ensembl Gene |
ENSMUSG00000050321 |
Gene Name |
neuropilin (NRP) and tolloid (TLL)-like 1 |
Synonyms |
C130005O10Rik |
MMRRC Submission |
042684-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5095 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
18 |
Chromosomal Location |
86413077-86524843 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 86416406 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 38
(S38P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000057340
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058829]
|
AlphaFold |
Q8R4I7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000058829
AA Change: S38P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000057340 Gene: ENSMUSG00000050321 AA Change: S38P
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 |
0.0703 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
Validation Efficiency |
98% (59/60) |
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: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700021A07Rik |
G |
C |
10: 21,301,492 (GRCm39) |
|
noncoding transcript |
Het |
Adgrv1 |
C |
T |
13: 81,243,606 (GRCm39) |
V6265I |
probably benign |
Het |
Agbl1 |
G |
A |
7: 76,369,881 (GRCm39) |
G660D |
probably damaging |
Het |
Arap2 |
A |
G |
5: 62,811,392 (GRCm39) |
Y1140H |
probably damaging |
Het |
Atp6v1c1 |
T |
C |
15: 38,679,657 (GRCm39) |
|
probably null |
Het |
C1rb |
A |
T |
6: 124,557,272 (GRCm39) |
R470W |
possibly damaging |
Het |
Caskin2 |
T |
C |
11: 115,691,564 (GRCm39) |
T1074A |
probably benign |
Het |
Cdh19 |
T |
A |
1: 110,882,391 (GRCm39) |
T34S |
probably benign |
Het |
Csnk1a1 |
T |
A |
18: 61,708,547 (GRCm39) |
Y175N |
probably damaging |
Het |
F2 |
CAGAAAG |
CAG |
2: 91,465,302 (GRCm39) |
|
probably benign |
Het |
Flt4 |
T |
A |
11: 49,517,986 (GRCm39) |
V342D |
possibly damaging |
Het |
Frmd5 |
A |
T |
2: 121,379,402 (GRCm39) |
C394S |
possibly damaging |
Het |
Gm5414 |
T |
G |
15: 101,532,473 (GRCm39) |
N550T |
probably benign |
Het |
Hcn3 |
C |
A |
3: 89,057,230 (GRCm39) |
R456L |
probably damaging |
Het |
Htt |
T |
C |
5: 34,981,739 (GRCm39) |
V893A |
possibly damaging |
Het |
Ift46 |
A |
G |
9: 44,698,146 (GRCm39) |
D203G |
probably damaging |
Het |
Itga10 |
G |
T |
3: 96,555,480 (GRCm39) |
V145L |
probably benign |
Het |
Kcnh6 |
A |
G |
11: 105,908,080 (GRCm39) |
D232G |
possibly damaging |
Het |
Mbtd1 |
T |
C |
11: 93,820,497 (GRCm39) |
S431P |
probably damaging |
Het |
Mmp27 |
T |
A |
9: 7,572,159 (GRCm39) |
W120R |
probably damaging |
Het |
Mmp27 |
A |
T |
9: 7,579,001 (GRCm39) |
D418V |
probably damaging |
Het |
Myo5a |
A |
G |
9: 75,059,302 (GRCm39) |
D510G |
probably damaging |
Het |
Myo5a |
A |
T |
9: 75,091,671 (GRCm39) |
K1179* |
probably null |
Het |
Nos3 |
A |
G |
5: 24,573,916 (GRCm39) |
|
probably benign |
Het |
Nuggc |
C |
T |
14: 65,872,539 (GRCm39) |
R512* |
probably null |
Het |
Oas1e |
T |
A |
5: 120,932,329 (GRCm39) |
K105* |
probably null |
Het |
Omd |
T |
A |
13: 49,743,174 (GRCm39) |
S75T |
possibly damaging |
Het |
Or10a3m |
T |
C |
7: 108,313,019 (GRCm39) |
F141S |
probably damaging |
Het |
Or2n1c |
A |
C |
17: 38,519,208 (GRCm39) |
E24A |
possibly damaging |
Het |
Pbrm1 |
A |
G |
14: 30,754,487 (GRCm39) |
N190S |
probably benign |
Het |
Picalm |
T |
C |
7: 89,819,841 (GRCm39) |
F85L |
probably damaging |
Het |
Polg |
A |
G |
7: 79,110,048 (GRCm39) |
V360A |
possibly damaging |
Het |
Prex1 |
T |
C |
2: 166,423,841 (GRCm39) |
D1017G |
probably damaging |
Het |
Prss56 |
G |
C |
1: 87,115,833 (GRCm39) |
R569P |
probably damaging |
Het |
Rab6b |
G |
A |
9: 103,017,583 (GRCm39) |
G25R |
probably damaging |
Het |
Rdh10 |
A |
G |
1: 16,201,609 (GRCm39) |
T332A |
probably benign |
Het |
Rheb |
A |
T |
5: 25,012,639 (GRCm39) |
M115K |
probably benign |
Het |
Rnf149 |
A |
T |
1: 39,594,737 (GRCm39) |
D321E |
probably benign |
Het |
Rps28 |
C |
T |
17: 34,042,177 (GRCm39) |
|
probably null |
Het |
Slc6a20b |
A |
G |
9: 123,424,119 (GRCm39) |
V616A |
probably benign |
Het |
Smarcc2 |
A |
G |
10: 128,305,169 (GRCm39) |
K300R |
probably damaging |
Het |
Sparcl1 |
C |
T |
5: 104,233,629 (GRCm39) |
M573I |
probably damaging |
Het |
Spata31h1 |
G |
T |
10: 82,119,501 (GRCm39) |
A4503E |
probably damaging |
Het |
Srp68 |
C |
T |
11: 116,139,573 (GRCm39) |
V459M |
probably damaging |
Het |
Stxbp4 |
C |
T |
11: 90,439,801 (GRCm39) |
V346I |
probably benign |
Het |
Syne2 |
A |
G |
12: 75,999,600 (GRCm39) |
D2331G |
probably damaging |
Het |
Ttn |
A |
T |
2: 76,564,536 (GRCm39) |
Y28534N |
probably damaging |
Het |
Usp44 |
A |
T |
10: 93,682,707 (GRCm39) |
I386F |
possibly damaging |
Het |
Vmn2r15 |
T |
C |
5: 109,436,317 (GRCm39) |
|
probably null |
Het |
Vmn2r72 |
T |
A |
7: 85,387,061 (GRCm39) |
L834F |
probably damaging |
Het |
Vps13b |
T |
A |
15: 35,923,348 (GRCm39) |
I3741K |
probably damaging |
Het |
Zdbf2 |
A |
G |
1: 63,348,232 (GRCm39) |
T2204A |
possibly damaging |
Het |
Zfp607b |
T |
A |
7: 27,393,061 (GRCm39) |
|
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 |
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'- GCCCATTATATTTCCAGAATACCTG -3'
(R):5'- ACATCACACACTTGGGGACTC -3'
Sequencing Primer
(F):5'- GAGTAAAAGACCGTTTCAAAC -3'
(R):5'- ACTTGGGGACTCTCACAAGC -3'
|
Posted On |
2016-06-21 |