Incidental Mutation 'IGL00493:Nptn'
| ID |
4871 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Nptn
|
| Ensembl Gene |
ENSMUSG00000032336 |
| Gene Name |
neuroplastin |
| Synonyms |
Sdfr1 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00493
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
58489504-58560162 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 58550922 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 316
(N316K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135199
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000085651]
[ENSMUST00000114121]
[ENSMUST00000175945]
[ENSMUST00000176250]
[ENSMUST00000176557]
[ENSMUST00000177292]
[ENSMUST00000176916]
[ENSMUST00000177064]
[ENSMUST00000177380]
|
| AlphaFold |
P97300 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000085651
AA Change: N200K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000082793
Gene: ENSMUSG00000032336
AA Change: N200K
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
IG
|
38 |
118 |
1.1e-3 |
SMART |
|
IGc2
|
133 |
206 |
9.3e-7 |
SMART |
|
transmembrane domain
|
221 |
243 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000114121
AA Change: N200K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000109756
Gene: ENSMUSG00000032336
AA Change: N200K
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
IG
|
38 |
118 |
2.56e-1 |
SMART |
|
IGc2
|
133 |
206 |
2.34e-4 |
SMART |
|
transmembrane domain
|
221 |
243 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000175945
|
| SMART Domains |
Protein: ENSMUSP00000135576
Gene: ENSMUSG00000032336
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176126
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000176250
AA Change: N90K
PolyPhen 2
Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000135250
Gene: ENSMUSG00000032336
AA Change: N90K
| Domain | Start | End | E-Value | Type |
|---|
|
IGc2
|
23 |
96 |
2.34e-4 |
SMART |
|
transmembrane domain
|
111 |
133 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000176557
AA Change: N200K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000135541
Gene: ENSMUSG00000032336
AA Change: N200K
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
IG
|
38 |
118 |
2.56e-1 |
SMART |
|
IGc2
|
133 |
206 |
2.34e-4 |
SMART |
|
transmembrane domain
|
221 |
243 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000176896
AA Change: N198K
|
| SMART Domains |
Protein: ENSMUSP00000134761
Gene: ENSMUSG00000032336
AA Change: N198K
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
|
IG
|
37 |
117 |
2.56e-1 |
SMART |
|
IGc2
|
132 |
205 |
2.34e-4 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000177292
AA Change: N316K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000135199
Gene: ENSMUSG00000032336
AA Change: N316K
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
IGc2
|
43 |
123 |
4.09e-9 |
SMART |
|
IG
|
154 |
234 |
2.56e-1 |
SMART |
|
IGc2
|
249 |
322 |
2.34e-4 |
SMART |
|
transmembrane domain
|
337 |
359 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000176916
AA Change: N90K
PolyPhen 2
Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000134977
Gene: ENSMUSG00000032336
AA Change: N90K
| Domain | Start | End | E-Value | Type |
|---|
|
IGc2
|
23 |
96 |
2.34e-4 |
SMART |
|
transmembrane domain
|
111 |
133 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000177064
AA Change: N112K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000135316
Gene: ENSMUSG00000032336
AA Change: N112K
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
IGc2
|
45 |
118 |
2.34e-4 |
SMART |
|
transmembrane domain
|
133 |
155 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177380
|
| SMART Domains |
Protein: ENSMUSP00000135886
Gene: ENSMUSG00000032336
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
IG
|
38 |
118 |
2.56e-1 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit abnormal dendritic spine morphology, decreased CNS synapse formation, abnormal CNS synaptic transmission and impaired hearing. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adarb2 |
A |
G |
13: 8,751,761 (GRCm39) |
T509A |
probably benign |
Het |
| Arhgap23 |
T |
C |
11: 97,337,379 (GRCm39) |
|
probably null |
Het |
| Astn1 |
A |
T |
1: 158,427,889 (GRCm39) |
I687F |
possibly damaging |
Het |
| Atg4d |
T |
C |
9: 21,178,217 (GRCm39) |
F112L |
probably damaging |
Het |
| Bltp3b |
A |
C |
10: 89,615,846 (GRCm39) |
D163A |
probably damaging |
Het |
| Cd200 |
T |
A |
16: 45,217,409 (GRCm39) |
D94V |
probably damaging |
Het |
| Cfap46 |
T |
C |
7: 139,194,359 (GRCm39) |
K2285R |
probably benign |
Het |
| Clhc1 |
T |
A |
11: 29,521,745 (GRCm39) |
I426N |
probably damaging |
Het |
| Cnnm2 |
T |
A |
19: 46,751,659 (GRCm39) |
V483E |
probably damaging |
Het |
| Dennd2b |
G |
A |
7: 109,126,915 (GRCm39) |
A932V |
possibly damaging |
Het |
| Dlc1 |
A |
T |
8: 37,037,436 (GRCm39) |
|
probably benign |
Het |
| Fpgs |
T |
C |
2: 32,578,009 (GRCm39) |
I138V |
possibly damaging |
Het |
| Gpr152 |
T |
C |
19: 4,193,506 (GRCm39) |
V349A |
probably benign |
Het |
| Hk1 |
C |
A |
10: 62,122,127 (GRCm39) |
E523* |
probably null |
Het |
| Ift70a1 |
C |
A |
2: 75,812,085 (GRCm39) |
|
probably benign |
Het |
| Krt6a |
T |
G |
15: 101,601,229 (GRCm39) |
K241N |
probably damaging |
Het |
| Mcm3ap |
A |
G |
10: 76,307,011 (GRCm39) |
S375G |
probably benign |
Het |
| Meikin |
C |
T |
11: 54,289,320 (GRCm39) |
P231L |
probably damaging |
Het |
| Micall1 |
G |
A |
15: 78,999,221 (GRCm39) |
|
probably benign |
Het |
| Mvk |
G |
A |
5: 114,583,502 (GRCm39) |
V14I |
probably benign |
Het |
| Myo6 |
C |
T |
9: 80,199,754 (GRCm39) |
S1021L |
probably damaging |
Het |
| N4bp2l2 |
G |
A |
5: 150,585,401 (GRCm39) |
T193M |
probably benign |
Het |
| Naip5 |
G |
T |
13: 100,367,279 (GRCm39) |
D272E |
probably damaging |
Het |
| Pde6c |
T |
C |
19: 38,151,324 (GRCm39) |
|
probably benign |
Het |
| Prg4 |
T |
A |
1: 150,327,671 (GRCm39) |
I850L |
probably damaging |
Het |
| Rdm1 |
T |
G |
11: 101,526,580 (GRCm39) |
C251G |
possibly damaging |
Het |
| Relch |
A |
G |
1: 105,624,324 (GRCm39) |
|
probably benign |
Het |
| Rps6kl1 |
G |
A |
12: 85,186,157 (GRCm39) |
P291L |
probably benign |
Het |
| Sel1l |
A |
G |
12: 91,781,387 (GRCm39) |
|
probably benign |
Het |
| Serpinb1b |
T |
C |
13: 33,277,850 (GRCm39) |
F361S |
probably damaging |
Het |
| Sirpb1a |
G |
A |
3: 15,475,788 (GRCm39) |
|
probably benign |
Het |
| Smpd1 |
T |
G |
7: 105,205,848 (GRCm39) |
V405G |
probably damaging |
Het |
| Spmip11 |
T |
C |
15: 98,486,425 (GRCm39) |
|
probably benign |
Het |
| Tead3 |
T |
C |
17: 28,551,780 (GRCm39) |
T438A |
possibly damaging |
Het |
| Treh |
A |
T |
9: 44,595,197 (GRCm39) |
D89V |
probably damaging |
Het |
| Trim10 |
A |
T |
17: 37,188,140 (GRCm39) |
H452L |
probably benign |
Het |
| Ugt2b1 |
A |
G |
5: 87,073,817 (GRCm39) |
C181R |
probably benign |
Het |
| Xdh |
A |
T |
17: 74,230,101 (GRCm39) |
F277I |
possibly damaging |
Het |
| Zswim4 |
T |
G |
8: 84,938,769 (GRCm39) |
T1038P |
probably damaging |
Het |
|
| Other mutations in Nptn |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02043:Nptn
|
APN |
9 |
58,548,012 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
kinda_slow
|
UTSW |
9 |
58,531,035 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0212:Nptn
|
UTSW |
9 |
58,535,164 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1585:Nptn
|
UTSW |
9 |
58,548,073 (GRCm39) |
missense |
probably benign |
0.17 |
|
R1673:Nptn
|
UTSW |
9 |
58,531,015 (GRCm39) |
missense |
probably benign |
0.12 |
|
R2484:Nptn
|
UTSW |
9 |
58,550,956 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R4151:Nptn
|
UTSW |
9 |
58,550,825 (GRCm39) |
missense |
probably benign |
0.14 |
|
R4389:Nptn
|
UTSW |
9 |
58,551,055 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4721:Nptn
|
UTSW |
9 |
58,548,059 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5166:Nptn
|
UTSW |
9 |
58,526,263 (GRCm39) |
nonsense |
probably null |
|
|
R5346:Nptn
|
UTSW |
9 |
58,531,070 (GRCm39) |
nonsense |
probably null |
|
|
R6494:Nptn
|
UTSW |
9 |
58,531,035 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6520:Nptn
|
UTSW |
9 |
58,551,017 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7506:Nptn
|
UTSW |
9 |
58,526,156 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8762:Nptn
|
UTSW |
9 |
58,525,905 (GRCm39) |
intron |
probably benign |
|
|
R8867:Nptn
|
UTSW |
9 |
58,526,264 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9124:Nptn
|
UTSW |
9 |
58,558,498 (GRCm39) |
unclassified |
probably benign |
|
|
| Posted On |
2012-04-20 |
Incidental Mutation