Incidental Mutation 'R5400:Neto1'
ID |
475516 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Neto1
|
Ensembl Gene |
ENSMUSG00000050321 |
Gene Name |
neuropilin (NRP) and tolloid (TLL)-like 1 |
Synonyms |
C130005O10Rik |
MMRRC Submission |
042971-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5400 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
18 |
Chromosomal Location |
86413077-86524843 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 86414033 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Arginine
at position 9
(H9R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000057340
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058829]
|
AlphaFold |
Q8R4I7 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000058829
AA Change: H9R
PolyPhen 2
Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000057340 Gene: ENSMUSG00000050321 AA Change: H9R
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 |
0.0575 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.3%
|
Validation Efficiency |
98% (64/65) |
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Accsl |
T |
C |
2: 93,689,767 (GRCm39) |
D380G |
probably damaging |
Het |
Afm |
T |
C |
5: 90,699,257 (GRCm39) |
L567P |
possibly damaging |
Het |
Anks1b |
A |
T |
10: 90,348,686 (GRCm39) |
I785L |
probably damaging |
Het |
Arpc5l |
G |
A |
2: 38,903,747 (GRCm39) |
G79S |
probably benign |
Het |
Arvcf |
G |
T |
16: 18,217,820 (GRCm39) |
R440L |
probably benign |
Het |
Atm |
T |
C |
9: 53,414,318 (GRCm39) |
D924G |
probably damaging |
Het |
Atp8b1 |
A |
T |
18: 64,679,060 (GRCm39) |
|
probably null |
Het |
Cd19 |
C |
T |
7: 126,013,624 (GRCm39) |
G55D |
probably benign |
Het |
Cd34 |
A |
G |
1: 194,621,266 (GRCm39) |
|
probably benign |
Het |
Cd69 |
T |
A |
6: 129,246,954 (GRCm39) |
M88L |
probably benign |
Het |
Ces2h |
A |
G |
8: 105,745,057 (GRCm39) |
E397G |
probably benign |
Het |
Ddx60 |
T |
C |
8: 62,463,036 (GRCm39) |
F1306L |
possibly damaging |
Het |
Dennd5b |
T |
C |
6: 148,901,514 (GRCm39) |
E1124G |
probably damaging |
Het |
Dio1 |
A |
T |
4: 107,164,185 (GRCm39) |
M44K |
probably damaging |
Het |
Elapor2 |
A |
T |
5: 9,529,247 (GRCm39) |
N1027Y |
probably damaging |
Het |
En1 |
A |
G |
1: 120,531,324 (GRCm39) |
D188G |
probably damaging |
Het |
Epha10 |
C |
T |
4: 124,807,914 (GRCm39) |
|
probably benign |
Het |
Fam120b |
A |
T |
17: 15,623,388 (GRCm39) |
L455F |
possibly damaging |
Het |
Flt4 |
AC |
ACC |
11: 49,541,861 (GRCm39) |
|
probably null |
Het |
Incenp |
A |
G |
19: 9,855,039 (GRCm39) |
|
probably null |
Het |
Kansl3 |
A |
G |
1: 36,397,230 (GRCm39) |
V86A |
possibly damaging |
Het |
Klhl7 |
C |
G |
5: 24,331,918 (GRCm39) |
F73L |
probably damaging |
Het |
Med28 |
T |
A |
5: 45,682,541 (GRCm39) |
V69D |
probably damaging |
Het |
Mknk1 |
C |
A |
4: 115,721,749 (GRCm39) |
L98M |
probably damaging |
Het |
Mknk1 |
T |
A |
4: 115,721,750 (GRCm39) |
L98Q |
probably damaging |
Het |
Myo3b |
T |
A |
2: 69,935,724 (GRCm39) |
C97S |
probably damaging |
Het |
Omd |
A |
T |
13: 49,745,703 (GRCm39) |
E371V |
probably benign |
Het |
Or1n2 |
A |
T |
2: 36,797,833 (GRCm39) |
I292F |
probably damaging |
Het |
Or2w3b |
T |
C |
11: 58,623,146 (GRCm39) |
T282A |
possibly damaging |
Het |
Or4c123 |
T |
C |
2: 89,127,257 (GRCm39) |
D119G |
probably damaging |
Het |
Or51e2 |
G |
A |
7: 102,391,637 (GRCm39) |
T191I |
probably benign |
Het |
Osbpl9 |
G |
T |
4: 108,919,497 (GRCm39) |
Y733* |
probably null |
Het |
Pcdh12 |
A |
T |
18: 38,401,951 (GRCm39) |
S91R |
probably damaging |
Het |
Pxk |
C |
A |
14: 8,136,911 (GRCm38) |
P144Q |
probably benign |
Het |
Qser1 |
A |
G |
2: 104,620,219 (GRCm39) |
S198P |
probably damaging |
Het |
Recql |
T |
G |
6: 142,308,073 (GRCm39) |
|
probably benign |
Het |
Reln |
T |
C |
5: 22,184,712 (GRCm39) |
D1601G |
probably damaging |
Het |
Scn10a |
T |
C |
9: 119,438,100 (GRCm39) |
D1922G |
probably damaging |
Het |
Scn11a |
T |
A |
9: 119,598,974 (GRCm39) |
R1185S |
probably damaging |
Het |
Sh3bp5 |
C |
A |
14: 31,099,452 (GRCm39) |
R265L |
probably benign |
Het |
Shoc1 |
A |
G |
4: 59,082,432 (GRCm39) |
S399P |
possibly damaging |
Het |
Slc13a4 |
A |
T |
6: 35,278,777 (GRCm39) |
C37* |
probably null |
Het |
Slc22a30 |
G |
A |
19: 8,321,757 (GRCm39) |
Q436* |
probably null |
Het |
Slc9a9 |
T |
A |
9: 94,594,954 (GRCm39) |
F155I |
probably damaging |
Het |
Spef2 |
T |
A |
15: 9,614,367 (GRCm39) |
K1193M |
probably damaging |
Het |
Swt1 |
T |
C |
1: 151,288,585 (GRCm39) |
T80A |
probably benign |
Het |
Tmc1 |
A |
G |
19: 20,781,966 (GRCm39) |
I584T |
probably damaging |
Het |
Tsc22d1 |
C |
A |
14: 76,654,494 (GRCm39) |
F324L |
probably benign |
Het |
Usp19 |
T |
C |
9: 108,377,392 (GRCm39) |
V1236A |
probably damaging |
Het |
Vmn2r63 |
T |
C |
7: 42,577,635 (GRCm39) |
N301S |
probably benign |
Het |
Wrn |
C |
T |
8: 33,784,945 (GRCm39) |
V476I |
probably benign |
Het |
Zbed6 |
G |
A |
1: 133,585,879 (GRCm39) |
T486I |
probably damaging |
Het |
Zbtb25 |
C |
A |
12: 76,396,476 (GRCm39) |
E249* |
probably null |
Het |
Zfp54 |
C |
A |
17: 21,653,962 (GRCm39) |
T152K |
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 |
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'- GGAAGACAAACCAGTTCCGATG -3'
(R):5'- TGACCAACTCTGAGGTCCAG -3'
Sequencing Primer
(F):5'- GACAAACCAGTTCCGATGCTTTC -3'
(R):5'- TCCAGCGCCACTCTGTG -3'
|
Posted On |
2017-05-11 |