Incidental Mutation 'R3939:Neto2'
| ID |
308604 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Neto2
|
| Ensembl Gene |
ENSMUSG00000036902 |
| Gene Name |
neuropilin (NRP) and tolloid (TLL)-like 2 |
| Synonyms |
5530601C23Rik |
| MMRRC Submission |
040826-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.164)
|
| Stock # |
R3939 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
86363217-86427553 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 86400747 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 16
(T16I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148172
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109686]
[ENSMUST00000209479]
[ENSMUST00000216286]
|
| AlphaFold |
Q8BNJ6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000109686
AA Change: T51I
PolyPhen 2
Score 0.792 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000105308
Gene: ENSMUSG00000036902
AA Change: T51I
| 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: T16I
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000215046
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216286
AA Change: T16I
PolyPhen 2
Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)
|
| Meta Mutation Damage Score |
0.0759 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
97% (37/38) |
| 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 |
|---|
| 4930567H17Rik |
C |
T |
X: 69,438,135 (GRCm39) |
A53T |
probably benign |
Het |
| Atp13a2 |
T |
C |
4: 140,733,733 (GRCm39) |
S1041P |
probably damaging |
Het |
| Brinp3 |
C |
A |
1: 146,627,599 (GRCm39) |
D277E |
probably damaging |
Het |
| Cacnb4 |
C |
A |
2: 52,359,501 (GRCm39) |
R169L |
probably damaging |
Het |
| Col13a1 |
T |
C |
10: 61,698,861 (GRCm39) |
I491V |
unknown |
Het |
| Corin |
T |
C |
5: 72,497,222 (GRCm39) |
D531G |
possibly damaging |
Het |
| Cx3cr1 |
C |
T |
9: 119,880,710 (GRCm39) |
V231I |
probably benign |
Het |
| Dennd4c |
T |
G |
4: 86,692,517 (GRCm39) |
V9G |
probably damaging |
Het |
| Dysf |
G |
A |
6: 84,163,491 (GRCm39) |
|
probably null |
Het |
| Faf1 |
T |
G |
4: 109,719,076 (GRCm39) |
L394R |
probably damaging |
Het |
| Fgfr4 |
G |
A |
13: 55,304,307 (GRCm39) |
D116N |
probably null |
Het |
| Flt3 |
A |
G |
5: 147,293,053 (GRCm39) |
Y518H |
possibly damaging |
Het |
| Frem3 |
T |
C |
8: 81,341,649 (GRCm39) |
I1314T |
possibly damaging |
Het |
| Gk2 |
T |
A |
5: 97,603,211 (GRCm39) |
L542F |
possibly damaging |
Het |
| Gm4922 |
T |
A |
10: 18,660,362 (GRCm39) |
E120V |
probably damaging |
Het |
| Hip1 |
A |
T |
5: 135,457,618 (GRCm39) |
I285N |
probably benign |
Het |
| Kcnd2 |
C |
A |
6: 21,217,095 (GRCm39) |
D266E |
probably damaging |
Het |
| Kdr |
C |
T |
5: 76,133,089 (GRCm39) |
W63* |
probably null |
Het |
| Kit |
A |
G |
5: 75,769,978 (GRCm39) |
D130G |
probably benign |
Het |
| Megf8 |
G |
A |
7: 25,058,627 (GRCm39) |
V2208I |
probably benign |
Het |
| Nktr |
T |
A |
9: 121,578,135 (GRCm39) |
|
probably benign |
Het |
| Nrxn1 |
A |
G |
17: 90,515,849 (GRCm39) |
I1207T |
probably damaging |
Het |
| Obox7 |
G |
A |
7: 14,397,972 (GRCm39) |
G4D |
probably benign |
Het |
| Ogdh |
G |
A |
11: 6,300,655 (GRCm39) |
W827* |
probably null |
Het |
| Or13g1 |
T |
C |
7: 85,955,437 (GRCm39) |
M295V |
probably benign |
Het |
| Or4c118 |
T |
A |
2: 88,974,474 (GRCm39) |
K298* |
probably null |
Het |
| Or4k15c |
A |
G |
14: 50,321,173 (GRCm39) |
*322Q |
probably null |
Het |
| Pcdhga9 |
G |
A |
18: 37,871,995 (GRCm39) |
R608H |
probably benign |
Het |
| Rin2 |
C |
T |
2: 145,702,366 (GRCm39) |
T354I |
probably benign |
Het |
| Sbpl |
T |
A |
17: 24,172,617 (GRCm39) |
I101L |
probably benign |
Het |
| Serpina9 |
T |
A |
12: 103,975,151 (GRCm39) |
M1L |
probably benign |
Het |
| Stxbp6 |
A |
G |
12: 44,949,641 (GRCm39) |
|
probably null |
Het |
| Synpo2 |
A |
G |
3: 122,908,239 (GRCm39) |
V359A |
probably damaging |
Het |
| Ttyh1 |
T |
A |
7: 4,132,317 (GRCm39) |
L155H |
probably damaging |
Het |
| Vil1 |
A |
G |
1: 74,471,574 (GRCm39) |
D785G |
probably benign |
Het |
| Zfp345 |
G |
A |
2: 150,314,473 (GRCm39) |
H355Y |
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 |
|
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 |
|
R6662:Neto2
|
UTSW |
8 |
86,389,844 (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'- AGGTCATTGCAATATTCAAGAACA -3'
(R):5'- AATGCTGGTGAGGACTGGTGA -3'
Sequencing Primer
(F):5'- GCTGTACAATGTGAGACTGCC -3'
(R):5'- AGGACTGGTGATTTTTAAGCCAAG -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation