Incidental Mutation 'R6662:Neto2'
| ID |
528022 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Neto2
|
| Ensembl Gene |
ENSMUSG00000036902 |
| Gene Name |
neuropilin (NRP) and tolloid (TLL)-like 2 |
| Synonyms |
5530601C23Rik |
| MMRRC Submission |
044782-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.157)
|
| Stock # |
R6662 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
86363217-86427553 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 86389844 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 206
(D206E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150062
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109686]
[ENSMUST00000209479]
[ENSMUST00000216286]
|
| AlphaFold |
Q8BNJ6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000109686
AA Change: D234E
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000105308
Gene: ENSMUSG00000036902
AA Change: D234E
| 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 damaging
Transcript: ENSMUST00000209479
AA Change: D199E
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000215046
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000216286
AA Change: D206E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.8%
|
| Validation Efficiency |
100% (46/46) |
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ablim1 |
A |
G |
19: 57,062,285 (GRCm39) |
|
probably null |
Het |
| Acox1 |
A |
G |
11: 116,066,149 (GRCm39) |
Y418H |
probably damaging |
Het |
| Akr1b1 |
C |
T |
6: 34,286,939 (GRCm39) |
V206M |
possibly damaging |
Het |
| Aldh3a1 |
G |
A |
11: 61,105,481 (GRCm39) |
V196I |
probably benign |
Het |
| Aox3 |
A |
G |
1: 58,157,774 (GRCm39) |
K44E |
probably damaging |
Het |
| Bad |
T |
A |
19: 6,928,438 (GRCm39) |
|
probably benign |
Het |
| BC034090 |
G |
T |
1: 155,102,085 (GRCm39) |
Q60K |
possibly damaging |
Het |
| Casp6 |
A |
G |
3: 129,705,875 (GRCm39) |
T181A |
probably benign |
Het |
| Catsperg2 |
G |
A |
7: 29,418,938 (GRCm39) |
|
probably benign |
Het |
| Ccdc14 |
T |
C |
16: 34,511,164 (GRCm39) |
L46P |
probably damaging |
Het |
| Ces1b |
A |
G |
8: 93,790,697 (GRCm39) |
L364S |
probably benign |
Het |
| Cfap45 |
T |
C |
1: 172,357,417 (GRCm39) |
I15T |
probably benign |
Het |
| Dph5 |
G |
A |
3: 115,722,205 (GRCm39) |
E228K |
probably benign |
Het |
| Fat4 |
G |
T |
3: 39,010,970 (GRCm39) |
L2023F |
possibly damaging |
Het |
| Garem1 |
T |
C |
18: 21,281,304 (GRCm39) |
N351D |
probably benign |
Het |
| Grm2 |
C |
T |
9: 106,525,252 (GRCm39) |
A488T |
probably benign |
Het |
| Ifit3b |
A |
G |
19: 34,589,337 (GRCm39) |
E171G |
probably damaging |
Het |
| Il1rn |
A |
T |
2: 24,226,887 (GRCm39) |
|
probably null |
Het |
| Itih5 |
A |
T |
2: 10,253,992 (GRCm39) |
I748F |
probably benign |
Het |
| Kcnh5 |
C |
A |
12: 75,054,385 (GRCm39) |
D520Y |
probably damaging |
Het |
| Mgat5 |
C |
A |
1: 127,396,974 (GRCm39) |
H574N |
probably damaging |
Het |
| Moxd1 |
A |
C |
10: 24,160,658 (GRCm39) |
D437A |
probably damaging |
Het |
| Mybpc2 |
A |
G |
7: 44,155,590 (GRCm39) |
F888L |
probably benign |
Het |
| Ncs1 |
T |
A |
2: 31,177,372 (GRCm39) |
L183Q |
probably damaging |
Het |
| Omp |
A |
G |
7: 97,794,546 (GRCm39) |
L27P |
probably damaging |
Het |
| Oxsm |
A |
G |
14: 16,242,287 (GRCm38) |
S161P |
probably benign |
Het |
| Pate6 |
C |
A |
9: 35,701,296 (GRCm39) |
R6M |
possibly damaging |
Het |
| Pde4b |
A |
G |
4: 102,459,095 (GRCm39) |
I381M |
possibly damaging |
Het |
| Pramel5 |
A |
T |
4: 143,999,675 (GRCm39) |
N137K |
probably benign |
Het |
| Prss33 |
T |
C |
17: 24,052,934 (GRCm39) |
S247G |
probably damaging |
Het |
| Rassf9 |
T |
A |
10: 102,381,899 (GRCm39) |
L425Q |
possibly damaging |
Het |
| Setx |
A |
T |
2: 29,048,126 (GRCm39) |
D1909V |
probably damaging |
Het |
| Slc26a3 |
A |
T |
12: 31,507,345 (GRCm39) |
K402* |
probably null |
Het |
| Slco1a6 |
G |
A |
6: 142,078,941 (GRCm39) |
T118I |
probably damaging |
Het |
| Syne1 |
A |
G |
10: 5,078,416 (GRCm39) |
L6769P |
probably damaging |
Het |
| Tas2r107 |
A |
T |
6: 131,636,452 (GRCm39) |
V199D |
possibly damaging |
Het |
| Tchp |
A |
G |
5: 114,858,076 (GRCm39) |
|
probably null |
Het |
| Trdn |
A |
T |
10: 33,350,483 (GRCm39) |
N684I |
probably damaging |
Het |
| Trio |
G |
T |
15: 27,855,082 (GRCm39) |
T700K |
probably benign |
Het |
| Ttn |
C |
T |
2: 76,586,242 (GRCm39) |
V20084I |
probably benign |
Het |
| Ubl3 |
A |
T |
5: 148,446,116 (GRCm39) |
Y62* |
probably null |
Het |
| Uckl1 |
A |
G |
2: 181,215,053 (GRCm39) |
Y267H |
possibly damaging |
Het |
| Zfp1005 |
G |
A |
2: 150,108,172 (GRCm39) |
|
probably null |
Het |
| Zfp786 |
T |
C |
6: 47,803,920 (GRCm39) |
N41D |
probably damaging |
Het |
| Zfp983 |
T |
C |
17: 21,881,001 (GRCm39) |
S310P |
probably damaging |
Het |
|
| Other mutations in Neto2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01705:Neto2
|
APN |
8 |
86,367,632 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01938:Neto2
|
APN |
8 |
86,417,484 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02238:Neto2
|
APN |
8 |
86,396,292 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02605:Neto2
|
APN |
8 |
86,390,064 (GRCm39) |
splice site |
probably benign |
|
|
IGL02813:Neto2
|
APN |
8 |
86,417,515 (GRCm39) |
missense |
probably benign |
|
|
R0138:Neto2
|
UTSW |
8 |
86,367,673 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R1934:Neto2
|
UTSW |
8 |
86,397,033 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R2402:Neto2
|
UTSW |
8 |
86,417,541 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2423:Neto2
|
UTSW |
8 |
86,396,396 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3821:Neto2
|
UTSW |
8 |
86,389,924 (GRCm39) |
nonsense |
probably null |
|
|
R3822:Neto2
|
UTSW |
8 |
86,389,924 (GRCm39) |
nonsense |
probably null |
|
|
R3883:Neto2
|
UTSW |
8 |
86,389,894 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3939:Neto2
|
UTSW |
8 |
86,400,747 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3940:Neto2
|
UTSW |
8 |
86,400,747 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3941:Neto2
|
UTSW |
8 |
86,400,747 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4433:Neto2
|
UTSW |
8 |
86,367,712 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4668:Neto2
|
UTSW |
8 |
86,367,691 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4675:Neto2
|
UTSW |
8 |
86,396,333 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4908:Neto2
|
UTSW |
8 |
86,396,393 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5459:Neto2
|
UTSW |
8 |
86,397,112 (GRCm39) |
missense |
probably benign |
0.35 |
|
R5471:Neto2
|
UTSW |
8 |
86,367,389 (GRCm39) |
missense |
probably benign |
0.41 |
|
R5544:Neto2
|
UTSW |
8 |
86,374,506 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5571:Neto2
|
UTSW |
8 |
86,367,173 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6083:Neto2
|
UTSW |
8 |
86,367,214 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6339:Neto2
|
UTSW |
8 |
86,367,187 (GRCm39) |
missense |
probably benign |
0.33 |
|
R6381:Neto2
|
UTSW |
8 |
86,369,138 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6572:Neto2
|
UTSW |
8 |
86,397,033 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R6593:Neto2
|
UTSW |
8 |
86,396,175 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6881:Neto2
|
UTSW |
8 |
86,367,185 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6950:Neto2
|
UTSW |
8 |
86,397,072 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7121:Neto2
|
UTSW |
8 |
86,397,020 (GRCm39) |
splice site |
probably null |
|
|
R7754:Neto2
|
UTSW |
8 |
86,396,329 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7755:Neto2
|
UTSW |
8 |
86,396,285 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8682:Neto2
|
UTSW |
8 |
86,367,295 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9326:Neto2
|
UTSW |
8 |
86,369,063 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACACTATAATCTTCATAGGTGCCC -3'
(R):5'- CAGATCCAGACTTTACTTACCTTGG -3'
Sequencing Primer
(F):5'- TCTTCATAGGTGCCCAATACAG -3'
(R):5'- GGAGGTATTTTAAATCCCATTCCAGG -3'
|
| Posted On |
2018-07-24 |
Incidental Mutation