Incidental Mutation 'R3822:Neto2'
| ID |
275227 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Neto2
|
| Ensembl Gene |
ENSMUSG00000036902 |
| Gene Name |
neuropilin (NRP) and tolloid (TLL)-like 2 |
| Synonyms |
|
| MMRRC Submission |
040884-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.145)
|
| Stock # |
R3822 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
85636588-85700924 bp(-) (GRCm38) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to A
at 85663295 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Stop codon
at position 180
(E180*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150062
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109686]
[ENSMUST00000209479]
[ENSMUST00000216286]
|
| AlphaFold |
Q8BNJ6 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000109686
AA Change: E208*
|
| SMART Domains |
Protein: ENSMUSP00000105308
Gene: ENSMUSG00000036902
AA Change: E208*
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
38 |
60 |
N/A |
INTRINSIC |
|
CUB
|
80 |
194 |
2.56e-40 |
SMART |
|
CUB
|
205 |
320 |
9.11e-5 |
SMART |
|
LDLa
|
324 |
361 |
5.73e-5 |
SMART |
|
transmembrane domain
|
374 |
396 |
N/A |
INTRINSIC |
|
coiled coil region
|
432 |
460 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209259
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000209479
AA Change: E173*
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000215046
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000216286
AA Change: E180*
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 95.9%
|
| Validation Efficiency |
100% (34/34) |
| 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 rats encodes a protein that modulates glutamate signaling in the brain by regulating kainate receptor function. Expression of this gene may be a biomarker for proliferating infantile hemangiomas. A pseudogene of this gene is located on the long arm of chromosome 8. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011]
PHENOTYPE: Mice homozygous for a null mutation show normal brain morphology and kainate receptor mediated excitatory postsynaptic currents. [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 |
|---|
| Aarsd1 |
T |
A |
11: 101,411,145 (GRCm38) |
I332F |
probably damaging |
Het |
| Acp3 |
G |
T |
9: 104,324,717 (GRCm38) |
Q76K |
probably damaging |
Het |
| Anp32e |
A |
T |
3: 95,934,869 (GRCm38) |
I100L |
probably benign |
Het |
| Ccdc13 |
C |
A |
9: 121,831,019 (GRCm38) |
L76F |
probably damaging |
Het |
| Cd44 |
T |
C |
2: 102,901,393 (GRCm38) |
|
probably null |
Het |
| Chka |
A |
G |
19: 3,882,038 (GRCm38) |
|
probably benign |
Het |
| Cnot6 |
A |
T |
11: 49,689,172 (GRCm38) |
S98T |
probably benign |
Het |
| Cth |
A |
G |
3: 157,918,499 (GRCm38) |
F127S |
probably benign |
Het |
| Dnah9 |
C |
A |
11: 65,851,003 (GRCm38) |
|
probably null |
Het |
| Dysf |
T |
C |
6: 84,207,088 (GRCm38) |
|
probably benign |
Het |
| Flad1 |
T |
A |
3: 89,411,187 (GRCm38) |
I20F |
probably damaging |
Het |
| Gm20730 |
C |
T |
6: 43,081,722 (GRCm38) |
S52N |
probably benign |
Het |
| Gpr89 |
A |
G |
3: 96,892,944 (GRCm38) |
S113P |
probably benign |
Het |
| Herpud2 |
G |
A |
9: 25,124,924 (GRCm38) |
Q147* |
probably null |
Het |
| Hivep1 |
A |
T |
13: 42,184,311 (GRCm38) |
H2622L |
possibly damaging |
Het |
| Hlcs |
T |
C |
16: 94,267,981 (GRCm38) |
N274D |
probably benign |
Het |
| Ido2 |
T |
C |
8: 24,533,755 (GRCm38) |
I356V |
probably benign |
Het |
| Insyn2b |
T |
C |
11: 34,403,007 (GRCm38) |
S350P |
probably benign |
Het |
| Itgam |
A |
G |
7: 128,112,286 (GRCm38) |
|
probably null |
Het |
| Lama1 |
C |
A |
17: 67,779,046 (GRCm38) |
|
probably null |
Het |
| Lrrc4b |
T |
A |
7: 44,462,558 (GRCm38) |
V618E |
probably damaging |
Het |
| Man1a2 |
A |
G |
3: 100,632,597 (GRCm38) |
I176T |
possibly damaging |
Het |
| Mns1 |
A |
G |
9: 72,439,448 (GRCm38) |
E71G |
probably damaging |
Het |
| Ncoa6 |
T |
A |
2: 155,406,938 (GRCm38) |
N1482I |
probably damaging |
Het |
| Psmb7 |
A |
T |
2: 38,613,428 (GRCm38) |
|
probably benign |
Het |
| Rin2 |
C |
T |
2: 145,822,630 (GRCm38) |
T60M |
probably benign |
Het |
| Slc28a3 |
A |
G |
13: 58,558,278 (GRCm38) |
V639A |
probably benign |
Het |
| Tenm2 |
A |
T |
11: 36,024,320 (GRCm38) |
I2129N |
probably damaging |
Het |
| Topaz1 |
A |
G |
9: 122,797,783 (GRCm38) |
D1492G |
possibly damaging |
Het |
| Trank1 |
G |
A |
9: 111,378,819 (GRCm38) |
G1711R |
probably damaging |
Het |
| Trpm1 |
A |
G |
7: 64,217,703 (GRCm38) |
|
probably benign |
Het |
| Ugt1a6a |
T |
A |
1: 88,138,529 (GRCm38) |
V19E |
probably benign |
Het |
| Vmn2r60 |
A |
T |
7: 42,135,701 (GRCm38) |
E112D |
probably damaging |
Het |
| Wdr4 |
T |
G |
17: 31,512,221 (GRCm38) |
Q55P |
probably damaging |
Het |
| Xpnpep1 |
G |
A |
19: 53,003,819 (GRCm38) |
|
probably benign |
Het |
| Zfyve16 |
A |
T |
13: 92,521,261 (GRCm38) |
L714Q |
probably damaging |
Het |
|
| Other mutations in Neto2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01705:Neto2
|
APN |
8 |
85,641,003 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01938:Neto2
|
APN |
8 |
85,690,855 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL02238:Neto2
|
APN |
8 |
85,669,663 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL02605:Neto2
|
APN |
8 |
85,663,435 (GRCm38) |
splice site |
probably benign |
|
|
IGL02813:Neto2
|
APN |
8 |
85,690,886 (GRCm38) |
missense |
probably benign |
|
|
R0138:Neto2
|
UTSW |
8 |
85,641,044 (GRCm38) |
missense |
possibly damaging |
0.72 |
|
R1934:Neto2
|
UTSW |
8 |
85,670,404 (GRCm38) |
missense |
possibly damaging |
0.96 |
|
R2402:Neto2
|
UTSW |
8 |
85,690,912 (GRCm38) |
missense |
probably benign |
0.00 |
|
R2423:Neto2
|
UTSW |
8 |
85,669,767 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3821:Neto2
|
UTSW |
8 |
85,663,295 (GRCm38) |
nonsense |
probably null |
|
|
R3883:Neto2
|
UTSW |
8 |
85,663,265 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3939:Neto2
|
UTSW |
8 |
85,674,118 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R3940:Neto2
|
UTSW |
8 |
85,674,118 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R3941:Neto2
|
UTSW |
8 |
85,674,118 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4433:Neto2
|
UTSW |
8 |
85,641,083 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4668:Neto2
|
UTSW |
8 |
85,641,062 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4675:Neto2
|
UTSW |
8 |
85,669,704 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4908:Neto2
|
UTSW |
8 |
85,669,764 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5459:Neto2
|
UTSW |
8 |
85,670,483 (GRCm38) |
missense |
probably benign |
0.35 |
|
R5471:Neto2
|
UTSW |
8 |
85,640,760 (GRCm38) |
missense |
probably benign |
0.41 |
|
R5544:Neto2
|
UTSW |
8 |
85,647,877 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R5571:Neto2
|
UTSW |
8 |
85,640,544 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6083:Neto2
|
UTSW |
8 |
85,640,585 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6339:Neto2
|
UTSW |
8 |
85,640,558 (GRCm38) |
missense |
probably benign |
0.33 |
|
R6381:Neto2
|
UTSW |
8 |
85,642,509 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6572:Neto2
|
UTSW |
8 |
85,670,404 (GRCm38) |
missense |
possibly damaging |
0.96 |
|
R6593:Neto2
|
UTSW |
8 |
85,669,546 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6662:Neto2
|
UTSW |
8 |
85,663,215 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6881:Neto2
|
UTSW |
8 |
85,640,556 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6950:Neto2
|
UTSW |
8 |
85,670,443 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7121:Neto2
|
UTSW |
8 |
85,670,391 (GRCm38) |
splice site |
probably null |
|
|
R7754:Neto2
|
UTSW |
8 |
85,669,700 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R7755:Neto2
|
UTSW |
8 |
85,669,656 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8682:Neto2
|
UTSW |
8 |
85,640,666 (GRCm38) |
missense |
probably benign |
0.01 |
|
R9326:Neto2
|
UTSW |
8 |
85,642,434 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCATAGGTGCCCAATACAGTAAAG -3'
(R):5'- AGCTCAGTACCAATGACTTTCTCC -3'
Sequencing Primer
(F):5'- GTGCCCAATACAGTAAAGGAAAC -3'
(R):5'- CTCTCTTTTGTTACAGATCCAGAC -3'
|
| Posted On |
2015-04-02 |
Incidental Mutation