Incidental Mutation 'R5346:Nptn'
| ID |
422618 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nptn
|
| Ensembl Gene |
ENSMUSG00000032336 |
| Gene Name |
neuroplastin |
| Synonyms |
Sdfr1 |
| MMRRC Submission |
042925-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5346 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
58489504-58560162 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to A
at 58531070 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 64
(Y64*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135886
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000085651]
[ENSMUST00000114121]
[ENSMUST00000175945]
[ENSMUST00000176557]
[ENSMUST00000177064]
[ENSMUST00000177292]
[ENSMUST00000177380]
|
| AlphaFold |
P97300 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000085651
AA Change: Y64*
|
| SMART Domains |
Protein: ENSMUSP00000082793
Gene: ENSMUSG00000032336
AA Change: Y64*
| 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 null
Transcript: ENSMUST00000114121
AA Change: Y64*
|
| SMART Domains |
Protein: ENSMUSP00000109756
Gene: ENSMUSG00000032336
AA Change: Y64*
| 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 |
probably null
Transcript: ENSMUST00000176557
AA Change: Y64*
|
| SMART Domains |
Protein: ENSMUSP00000135541
Gene: ENSMUSG00000032336
AA Change: Y64*
| 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 null
Transcript: ENSMUST00000176896
AA Change: Y62*
|
| SMART Domains |
Protein: ENSMUSP00000134761
Gene: ENSMUSG00000032336
AA Change: Y62*
| 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 benign
Transcript: ENSMUST00000177064
|
| SMART Domains |
Protein: ENSMUSP00000135316
Gene: ENSMUSG00000032336
| 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 null
Transcript: ENSMUST00000177292
AA Change: Y180*
|
| SMART Domains |
Protein: ENSMUSP00000135199
Gene: ENSMUSG00000032336
AA Change: Y180*
| 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 |
probably null
Transcript: ENSMUST00000177380
AA Change: Y64*
|
| SMART Domains |
Protein: ENSMUSP00000135886
Gene: ENSMUSG00000032336
AA Change: Y64*
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
IG
|
38 |
118 |
2.56e-1 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.7%
- 20x: 96.3%
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arap2 |
T |
A |
5: 62,872,089 (GRCm39) |
Y513F |
probably benign |
Het |
| Cluh |
C |
A |
11: 74,556,044 (GRCm39) |
H832N |
probably damaging |
Het |
| Cntfr |
G |
T |
4: 41,675,042 (GRCm39) |
Y21* |
probably null |
Het |
| Cog2 |
T |
C |
8: 125,273,370 (GRCm39) |
S570P |
possibly damaging |
Het |
| Cops7b |
A |
G |
1: 86,510,790 (GRCm39) |
|
probably benign |
Het |
| Cpox |
G |
A |
16: 58,495,649 (GRCm39) |
G322D |
probably damaging |
Het |
| Dop1a |
A |
G |
9: 86,402,835 (GRCm39) |
D1345G |
probably damaging |
Het |
| Dqx1 |
G |
A |
6: 83,036,700 (GRCm39) |
D235N |
possibly damaging |
Het |
| Dscaml1 |
A |
G |
9: 45,361,857 (GRCm39) |
I206V |
possibly damaging |
Het |
| Ednra |
T |
C |
8: 78,401,597 (GRCm39) |
Y231C |
probably damaging |
Het |
| Ehhadh |
T |
C |
16: 21,581,540 (GRCm39) |
Y484C |
probably damaging |
Het |
| Fmnl3 |
A |
T |
15: 99,229,871 (GRCm39) |
V150D |
probably damaging |
Het |
| Gabrb2 |
T |
A |
11: 42,312,216 (GRCm39) |
S14T |
probably benign |
Het |
| Gm10608 |
GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
9: 118,989,792 (GRCm39) |
|
probably null |
Het |
| Gpatch2 |
T |
C |
1: 186,958,065 (GRCm39) |
L140P |
probably benign |
Het |
| Gsdmc |
A |
G |
15: 63,648,735 (GRCm39) |
Y400H |
probably damaging |
Het |
| Heatr5b |
A |
G |
17: 79,135,415 (GRCm39) |
S239P |
probably benign |
Het |
| Hmcn1 |
A |
T |
1: 150,498,995 (GRCm39) |
I4004N |
probably damaging |
Het |
| Insc |
T |
A |
7: 114,403,776 (GRCm39) |
N63K |
possibly damaging |
Het |
| Mmp28 |
T |
C |
11: 83,333,489 (GRCm39) |
H484R |
probably benign |
Het |
| Nsd2 |
T |
A |
5: 34,036,480 (GRCm39) |
S655T |
possibly damaging |
Het |
| Nub1 |
A |
G |
5: 24,902,414 (GRCm39) |
E253G |
probably damaging |
Het |
| Or3a1d |
T |
C |
11: 74,237,496 (GRCm39) |
R305G |
probably benign |
Het |
| Pde3b |
T |
A |
7: 114,105,425 (GRCm39) |
H452Q |
probably benign |
Het |
| Pkhd1 |
T |
C |
1: 20,462,321 (GRCm39) |
M2078V |
probably benign |
Het |
| Pkhd1 |
T |
C |
1: 20,593,658 (GRCm39) |
D1485G |
probably damaging |
Het |
| Pkhd1l1 |
A |
C |
15: 44,404,363 (GRCm39) |
T2331P |
probably damaging |
Het |
| Plk5 |
G |
A |
10: 80,198,942 (GRCm39) |
G433E |
probably damaging |
Het |
| Pnliprp2 |
T |
A |
19: 58,748,232 (GRCm39) |
D4E |
probably benign |
Het |
| Prag1 |
A |
G |
8: 36,570,839 (GRCm39) |
D474G |
probably damaging |
Het |
| Psmc1 |
A |
G |
12: 100,086,359 (GRCm39) |
N332S |
probably damaging |
Het |
| Rad9a |
G |
C |
19: 4,251,517 (GRCm39) |
|
probably null |
Het |
| Slf1 |
A |
G |
13: 77,240,490 (GRCm39) |
V396A |
probably benign |
Het |
| Stat6 |
G |
A |
10: 127,488,182 (GRCm39) |
R312K |
probably benign |
Het |
| Tgm1 |
A |
T |
14: 55,948,629 (GRCm39) |
V174E |
probably damaging |
Het |
| Tnc |
A |
G |
4: 63,926,892 (GRCm39) |
V878A |
probably benign |
Het |
| Ube4b |
A |
T |
4: 149,421,881 (GRCm39) |
H969Q |
possibly damaging |
Het |
| Ubr4 |
T |
C |
4: 139,155,802 (GRCm39) |
I2209T |
probably damaging |
Het |
| Ulk2 |
A |
C |
11: 61,725,740 (GRCm39) |
L112R |
probably damaging |
Het |
| Wdr35 |
T |
C |
12: 9,028,684 (GRCm39) |
Y101H |
probably benign |
Het |
| Xpo7 |
A |
G |
14: 70,921,117 (GRCm39) |
L617P |
probably damaging |
Het |
|
| Other mutations in Nptn |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00493:Nptn
|
APN |
9 |
58,550,922 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TAACTCTCAGGCCAGGGCTAC -3'
(R):5'- ATTTAGTATATGCACCACACATGC -3'
Sequencing Primer
(F):5'- TCTCAGGCCAGGGCTACAAAAC -3'
(R):5'- AAGCACCGTTACCTGCTGAG -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation