Incidental Mutation 'R6494:Nptn'
| ID |
522967 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nptn
|
| Ensembl Gene |
ENSMUSG00000032336 |
| Gene Name |
neuroplastin |
| Synonyms |
Sdfr1 |
| MMRRC Submission |
044626-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6494 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
58489504-58560162 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 58531035 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Glycine
at position 169
(C169G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135199
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000085651]
[ENSMUST00000114121]
[ENSMUST00000175945]
[ENSMUST00000176557]
[ENSMUST00000177064]
[ENSMUST00000177292]
[ENSMUST00000177380]
|
| AlphaFold |
P97300 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000085651
AA Change: C53G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000082793
Gene: ENSMUSG00000032336
AA Change: C53G
| 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: C53G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000109756
Gene: ENSMUSG00000032336
AA Change: C53G
| 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 damaging
Transcript: ENSMUST00000176557
AA Change: C53G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000135541
Gene: ENSMUSG00000032336
AA Change: C53G
| 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: C51G
|
| SMART Domains |
Protein: ENSMUSP00000134761
Gene: ENSMUSG00000032336
AA Change: C51G
| 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 damaging
Transcript: ENSMUST00000177292
AA Change: C169G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000135199
Gene: ENSMUSG00000032336
AA Change: C169G
| 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 damaging
Transcript: ENSMUST00000177380
AA Change: C53G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000135886
Gene: ENSMUSG00000032336
AA Change: C53G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
IG
|
38 |
118 |
2.56e-1 |
SMART |
|
| Meta Mutation Damage Score |
0.9610 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 97.8%
- 20x: 92.4%
|
| Validation Efficiency |
98% (44/45) |
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akt2 |
T |
C |
7: 27,315,774 (GRCm39) |
L52P |
possibly damaging |
Het |
| Chd1l |
G |
A |
3: 97,494,483 (GRCm39) |
A399V |
probably damaging |
Het |
| Chic2 |
T |
C |
5: 75,204,943 (GRCm39) |
E6G |
probably benign |
Het |
| Clca4a |
T |
A |
3: 144,663,059 (GRCm39) |
T597S |
probably benign |
Het |
| Col5a2 |
C |
A |
1: 45,417,487 (GRCm39) |
D1363Y |
probably damaging |
Het |
| Csmd1 |
C |
T |
8: 16,261,709 (GRCm39) |
|
probably null |
Het |
| Dnah7b |
A |
T |
1: 46,138,591 (GRCm39) |
Y211F |
probably damaging |
Het |
| Efcab3 |
A |
T |
11: 104,990,845 (GRCm39) |
Y5460F |
possibly damaging |
Het |
| Efcab6 |
T |
A |
15: 83,928,523 (GRCm39) |
|
probably null |
Het |
| Eno4 |
T |
A |
19: 58,951,226 (GRCm39) |
Y237N |
probably damaging |
Het |
| Fer1l4 |
T |
A |
2: 155,887,390 (GRCm39) |
D602V |
probably benign |
Het |
| Fgfr2 |
T |
C |
7: 129,800,280 (GRCm39) |
N337S |
probably damaging |
Het |
| Fras1 |
C |
T |
5: 96,907,423 (GRCm39) |
R3203C |
possibly damaging |
Het |
| Gbp2 |
T |
A |
3: 142,337,769 (GRCm39) |
V295E |
probably damaging |
Het |
| Gm10549 |
C |
A |
18: 33,597,358 (GRCm39) |
|
probably benign |
Het |
| Hyal4 |
A |
G |
6: 24,765,745 (GRCm39) |
I366M |
possibly damaging |
Het |
| Itsn2 |
C |
T |
12: 4,684,792 (GRCm39) |
R448* |
probably null |
Het |
| Klhl35 |
G |
T |
7: 99,122,106 (GRCm39) |
W69L |
probably damaging |
Het |
| Kpnb1 |
T |
C |
11: 97,072,474 (GRCm39) |
I154V |
probably benign |
Het |
| Lax1 |
T |
A |
1: 133,608,186 (GRCm39) |
Y185F |
probably damaging |
Het |
| Mmp12 |
C |
T |
9: 7,353,479 (GRCm39) |
P208L |
probably damaging |
Het |
| Ndufb8 |
C |
T |
19: 44,543,744 (GRCm39) |
V33M |
probably null |
Het |
| Nuggc |
A |
T |
14: 65,885,671 (GRCm39) |
E766V |
probably damaging |
Het |
| Or10ag55-ps1 |
A |
T |
2: 87,139,520 (GRCm39) |
N149I |
possibly damaging |
Het |
| Or12e14 |
A |
T |
2: 87,187,976 (GRCm39) |
K63* |
probably null |
Het |
| Pcdhga6 |
T |
A |
18: 37,841,594 (GRCm39) |
I438N |
probably damaging |
Het |
| Pkn2 |
T |
C |
3: 142,509,429 (GRCm39) |
N721S |
possibly damaging |
Het |
| Pole |
T |
C |
5: 110,472,588 (GRCm39) |
W1590R |
possibly damaging |
Het |
| Prph2 |
A |
G |
17: 47,222,007 (GRCm39) |
T129A |
probably benign |
Het |
| Ptpro |
A |
T |
6: 137,359,640 (GRCm39) |
K403N |
probably benign |
Het |
| Rbck1 |
T |
C |
2: 152,172,886 (GRCm39) |
D54G |
possibly damaging |
Het |
| Serpinb7 |
T |
A |
1: 107,363,076 (GRCm39) |
L80* |
probably null |
Het |
| Setdb2 |
T |
A |
14: 59,639,863 (GRCm39) |
Y676F |
probably benign |
Het |
| Skint1 |
G |
T |
4: 111,867,909 (GRCm39) |
C12F |
probably benign |
Het |
| Slc22a26 |
T |
A |
19: 7,779,651 (GRCm39) |
D55V |
probably damaging |
Het |
| Slc9a8 |
G |
A |
2: 167,266,211 (GRCm39) |
V63I |
probably damaging |
Het |
| Sox2 |
T |
A |
3: 34,705,246 (GRCm39) |
S228T |
probably benign |
Het |
| Spata31g1 |
A |
G |
4: 42,971,924 (GRCm39) |
N419S |
possibly damaging |
Het |
| Spg11 |
A |
G |
2: 121,943,706 (GRCm39) |
S149P |
probably damaging |
Het |
| Tbc1d19 |
T |
A |
5: 53,986,725 (GRCm39) |
S45T |
probably benign |
Het |
| Tsacc |
T |
C |
3: 88,202,703 (GRCm39) |
E11G |
probably benign |
Het |
| Ttc7b |
C |
T |
12: 100,461,666 (GRCm39) |
A104T |
possibly damaging |
Het |
| Uox |
C |
T |
3: 146,330,332 (GRCm39) |
R163* |
probably null |
Het |
| Zfp108 |
T |
A |
7: 23,960,782 (GRCm39) |
F458I |
probably damaging |
Het |
| Zfp616 |
A |
T |
11: 73,976,018 (GRCm39) |
K762N |
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 |
|
|
R5346:Nptn
|
UTSW |
9 |
58,531,070 (GRCm39) |
nonsense |
probably null |
|
|
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'- CAGTGTAGTCCTGTCTGCC -3'
(R):5'- TTTAGTATATGCACCACACATGC -3'
Sequencing Primer
(F):5'- GTGTAGTCCTGTCTGCCTTCCC -3'
(R):5'- AAGCACCGTTACCTGCTGAG -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation