Incidental Mutation 'R5337:Neto1'
| ID |
423600 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Neto1
|
| Ensembl Gene |
ENSMUSG00000050321 |
| Gene Name |
neuropilin (NRP) and tolloid (TLL)-like 1 |
| Synonyms |
C130005O10Rik |
| MMRRC Submission |
042917-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5337 (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 86416434 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 47
(H47L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000057340
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058829]
|
| AlphaFold |
Q8R4I7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000058829
AA Change: H47L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000057340
Gene: ENSMUSG00000050321
AA Change: H47L
| 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 |
0.0668 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd15 |
T |
A |
11: 77,409,665 (GRCm39) |
|
probably null |
Het |
| Akap8l |
A |
G |
17: 32,555,368 (GRCm39) |
M237T |
possibly damaging |
Het |
| Anapc15 |
C |
T |
7: 101,547,810 (GRCm39) |
P68L |
probably damaging |
Het |
| Api5 |
G |
T |
2: 94,256,033 (GRCm39) |
A218E |
possibly damaging |
Het |
| Bltp2 |
T |
A |
11: 78,156,034 (GRCm39) |
I182N |
possibly damaging |
Het |
| Cfap68 |
C |
A |
9: 50,677,049 (GRCm39) |
C14F |
probably benign |
Het |
| Cftr |
A |
G |
6: 18,319,058 (GRCm39) |
D1336G |
probably damaging |
Het |
| Chd1l |
G |
A |
3: 97,469,932 (GRCm39) |
R865W |
probably damaging |
Het |
| Cimip2b |
C |
T |
4: 43,427,687 (GRCm39) |
|
probably null |
Het |
| Cmya5 |
T |
C |
13: 93,219,781 (GRCm39) |
K3223E |
probably benign |
Het |
| Cspg4b |
T |
A |
13: 113,455,299 (GRCm39) |
H448Q |
probably damaging |
Het |
| Cuzd1 |
A |
G |
7: 130,917,803 (GRCm39) |
Y266H |
probably damaging |
Het |
| Dnajc5b |
A |
T |
3: 19,628,946 (GRCm39) |
Y80F |
probably damaging |
Het |
| Dock6 |
A |
G |
9: 21,740,844 (GRCm39) |
S915P |
possibly damaging |
Het |
| Fat4 |
T |
A |
3: 38,945,776 (GRCm39) |
D1556E |
probably damaging |
Het |
| Fat4 |
A |
G |
3: 39,064,527 (GRCm39) |
T4828A |
probably benign |
Het |
| Gad1-ps |
G |
A |
10: 99,281,009 (GRCm39) |
|
noncoding transcript |
Het |
| Gja3 |
T |
G |
14: 57,273,289 (GRCm39) |
D361A |
probably benign |
Het |
| Gpr155 |
T |
C |
2: 73,178,592 (GRCm39) |
E704G |
probably benign |
Het |
| Greb1l |
A |
G |
18: 10,509,143 (GRCm39) |
E485G |
probably damaging |
Het |
| Grik1 |
CGG |
CGGG |
16: 87,720,082 (GRCm39) |
|
probably null |
Het |
| H6pd |
A |
G |
4: 150,066,241 (GRCm39) |
V715A |
probably benign |
Het |
| Itgb4 |
C |
T |
11: 115,874,983 (GRCm39) |
R447W |
probably benign |
Het |
| Kcnip1 |
T |
G |
11: 33,592,389 (GRCm39) |
|
probably benign |
Het |
| Kif21b |
T |
C |
1: 136,098,881 (GRCm39) |
S1390P |
probably damaging |
Het |
| Lrrc61 |
G |
A |
6: 48,545,308 (GRCm39) |
V44M |
probably damaging |
Het |
| Map3k4 |
G |
T |
17: 12,490,497 (GRCm39) |
N311K |
probably damaging |
Het |
| Mgat5 |
T |
C |
1: 127,387,658 (GRCm39) |
F538S |
possibly damaging |
Het |
| Mtpn |
C |
T |
6: 35,489,225 (GRCm39) |
D100N |
probably benign |
Het |
| Ndst1 |
A |
T |
18: 60,823,079 (GRCm39) |
L829Q |
probably damaging |
Het |
| Or10ak11 |
T |
C |
4: 118,686,863 (GRCm39) |
Y258C |
probably benign |
Het |
| Or10p22 |
A |
G |
10: 128,826,548 (GRCm39) |
T256A |
probably benign |
Het |
| Or51r1 |
T |
C |
7: 102,228,481 (GRCm39) |
S260P |
probably damaging |
Het |
| Or5p61 |
A |
T |
7: 107,758,480 (GRCm39) |
V200D |
probably benign |
Het |
| Or6c214 |
A |
T |
10: 129,590,403 (GRCm39) |
C305* |
probably null |
Het |
| Pds5b |
T |
C |
5: 150,717,062 (GRCm39) |
F1120L |
probably benign |
Het |
| Phkb |
A |
G |
8: 86,604,874 (GRCm39) |
Y93C |
probably damaging |
Het |
| Pilra |
C |
T |
5: 137,834,032 (GRCm39) |
|
probably benign |
Het |
| Pmvk |
T |
C |
3: 89,375,878 (GRCm39) |
V146A |
probably benign |
Het |
| Proz |
T |
A |
8: 13,116,854 (GRCm39) |
D135E |
probably benign |
Het |
| Psg23 |
A |
T |
7: 18,345,997 (GRCm39) |
W233R |
probably benign |
Het |
| Rgl2 |
A |
T |
17: 34,153,958 (GRCm39) |
I455F |
probably damaging |
Het |
| Rhpn1 |
A |
G |
15: 75,580,054 (GRCm39) |
Q39R |
probably benign |
Het |
| Rims4 |
T |
G |
2: 163,707,763 (GRCm39) |
M100L |
probably benign |
Het |
| Sacs |
T |
A |
14: 61,430,963 (GRCm39) |
|
probably benign |
Het |
| Slfn4 |
T |
C |
11: 83,080,055 (GRCm39) |
F189L |
probably benign |
Het |
| Sntb1 |
C |
G |
15: 55,506,191 (GRCm39) |
G461R |
probably damaging |
Het |
| Tmem127 |
T |
C |
2: 127,098,065 (GRCm39) |
Y129H |
probably damaging |
Het |
| Trim50 |
C |
T |
5: 135,396,330 (GRCm39) |
T426M |
probably damaging |
Het |
| Trpc3 |
A |
T |
3: 36,692,519 (GRCm39) |
|
probably benign |
Het |
| Tsga10ip |
A |
T |
19: 5,444,363 (GRCm39) |
S23T |
probably benign |
Het |
| Tut7 |
G |
A |
13: 59,939,666 (GRCm39) |
T695I |
probably damaging |
Het |
| Uspl1 |
T |
C |
5: 149,151,556 (GRCm39) |
S720P |
probably damaging |
Het |
| Zc3h18 |
A |
G |
8: 123,113,641 (GRCm39) |
D211G |
probably damaging |
Het |
| Zswim4 |
G |
A |
8: 84,961,708 (GRCm39) |
P55L |
probably 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 |
|
|
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 |
|
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'- GCCCATTATATTTCCAGAATACCTGAG -3'
(R):5'- TACACATCACACACTTGGGG -3'
Sequencing Primer
(F):5'- TGACTGGTTTTGAGTAAAAGACCG -3'
(R):5'- ACTTGGGGACTCTCACAAGC -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation