Incidental Mutation 'IGL00895:Cpn2'
| ID |
29124 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cpn2
|
| Ensembl Gene |
ENSMUSG00000023176 |
| Gene Name |
carboxypeptidase N, polypeptide 2 |
| Synonyms |
1300018K11Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.053)
|
| Stock # |
IGL00895
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
30075196-30086317 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 30079338 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Asparagine
at position 121
(S121N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000069318
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064856]
|
| AlphaFold |
Q9DBB9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000064856
AA Change: S121N
PolyPhen 2
Score 0.422 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000069318
Gene: ENSMUSG00000023176
AA Change: S121N
| Domain | Start | End | E-Value | Type |
|---|
|
LRRNT
|
21 |
53 |
3.21e-8 |
SMART |
|
LRR
|
96 |
119 |
1.22e2 |
SMART |
|
LRR
|
120 |
143 |
5.11e0 |
SMART |
|
LRR_TYP
|
144 |
167 |
2.71e-2 |
SMART |
|
LRR_TYP
|
168 |
191 |
3.21e-4 |
SMART |
|
LRR_TYP
|
192 |
215 |
5.9e-3 |
SMART |
|
LRR_TYP
|
216 |
239 |
6.88e-4 |
SMART |
|
LRR
|
240 |
263 |
6.57e-1 |
SMART |
|
LRR_TYP
|
264 |
287 |
2.12e-4 |
SMART |
|
LRR
|
289 |
311 |
3.07e-1 |
SMART |
|
LRR_TYP
|
312 |
335 |
2.61e-4 |
SMART |
|
LRR_TYP
|
336 |
359 |
5.9e-3 |
SMART |
|
LRR_TYP
|
360 |
383 |
2.79e-4 |
SMART |
|
LRRCT
|
395 |
446 |
7.34e-9 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231234
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arl6ip6 |
T |
A |
2: 53,092,936 (GRCm39) |
W154R |
probably damaging |
Het |
| Ccnc |
T |
A |
4: 21,742,642 (GRCm39) |
Y156* |
probably null |
Het |
| Clca3a1 |
A |
C |
3: 144,730,357 (GRCm39) |
W163G |
probably damaging |
Het |
| Cntnap5b |
C |
T |
1: 100,311,310 (GRCm39) |
T972I |
probably damaging |
Het |
| Dcc |
T |
C |
18: 71,943,871 (GRCm39) |
E260G |
probably damaging |
Het |
| Dnah6 |
A |
T |
6: 73,133,333 (GRCm39) |
N1091K |
possibly damaging |
Het |
| Dpp9 |
G |
T |
17: 56,512,240 (GRCm39) |
F249L |
probably damaging |
Het |
| Dscaml1 |
A |
G |
9: 45,662,551 (GRCm39) |
D1839G |
probably damaging |
Het |
| Esr1 |
C |
T |
10: 4,997,890 (GRCm38) |
R481L |
probably benign |
Het |
| Frem2 |
G |
T |
3: 53,493,016 (GRCm39) |
D1833E |
probably damaging |
Het |
| Ftdc2 |
A |
T |
16: 58,458,059 (GRCm39) |
Y81N |
probably benign |
Het |
| Ica1 |
T |
C |
6: 8,653,514 (GRCm39) |
D343G |
probably benign |
Het |
| Il27 |
T |
C |
7: 126,188,555 (GRCm39) |
H206R |
probably benign |
Het |
| Med14 |
A |
G |
X: 12,547,039 (GRCm39) |
V723A |
probably damaging |
Het |
| Msh3 |
C |
A |
13: 92,481,472 (GRCm39) |
G347C |
probably damaging |
Het |
| Nfasc |
T |
A |
1: 132,501,536 (GRCm39) |
K1262* |
probably null |
Het |
| Nlrp9a |
A |
T |
7: 26,258,103 (GRCm39) |
M485L |
probably benign |
Het |
| Or4c111 |
A |
G |
2: 88,843,953 (GRCm39) |
F152L |
probably benign |
Het |
| Or4f60 |
A |
G |
2: 111,902,100 (GRCm39) |
V276A |
probably damaging |
Het |
| Pcdhb5 |
T |
G |
18: 37,454,036 (GRCm39) |
L139V |
probably benign |
Het |
| Rbfox1 |
A |
T |
16: 7,187,698 (GRCm39) |
K43N |
probably benign |
Het |
| Scn5a |
G |
T |
9: 119,342,170 (GRCm39) |
|
probably null |
Het |
| Senp7 |
G |
T |
16: 55,902,740 (GRCm39) |
R21L |
probably damaging |
Het |
| Ssb |
G |
A |
2: 69,696,606 (GRCm39) |
V47I |
probably benign |
Het |
| Ttll8 |
T |
A |
15: 88,817,731 (GRCm39) |
S221C |
probably damaging |
Het |
|
| Other mutations in Cpn2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01954:Cpn2
|
APN |
16 |
30,079,138 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02458:Cpn2
|
APN |
16 |
30,079,653 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03036:Cpn2
|
APN |
16 |
30,079,647 (GRCm39) |
missense |
probably benign |
0.00 |
|
BB002:Cpn2
|
UTSW |
16 |
30,079,619 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB012:Cpn2
|
UTSW |
16 |
30,079,619 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0118:Cpn2
|
UTSW |
16 |
30,079,186 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0541:Cpn2
|
UTSW |
16 |
30,078,169 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R1300:Cpn2
|
UTSW |
16 |
30,078,481 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1470:Cpn2
|
UTSW |
16 |
30,079,003 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1470:Cpn2
|
UTSW |
16 |
30,079,003 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1751:Cpn2
|
UTSW |
16 |
30,078,485 (GRCm39) |
nonsense |
probably null |
|
|
R1753:Cpn2
|
UTSW |
16 |
30,078,918 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1761:Cpn2
|
UTSW |
16 |
30,079,014 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1767:Cpn2
|
UTSW |
16 |
30,078,485 (GRCm39) |
nonsense |
probably null |
|
|
R1793:Cpn2
|
UTSW |
16 |
30,078,142 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2360:Cpn2
|
UTSW |
16 |
30,078,321 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2414:Cpn2
|
UTSW |
16 |
30,079,392 (GRCm39) |
missense |
probably benign |
0.41 |
|
R3842:Cpn2
|
UTSW |
16 |
30,079,336 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4934:Cpn2
|
UTSW |
16 |
30,079,344 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4956:Cpn2
|
UTSW |
16 |
30,079,233 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R5593:Cpn2
|
UTSW |
16 |
30,078,898 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5864:Cpn2
|
UTSW |
16 |
30,078,501 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6755:Cpn2
|
UTSW |
16 |
30,079,149 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7833:Cpn2
|
UTSW |
16 |
30,079,163 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7925:Cpn2
|
UTSW |
16 |
30,079,619 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8441:Cpn2
|
UTSW |
16 |
30,078,849 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8679:Cpn2
|
UTSW |
16 |
30,078,085 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R8844:Cpn2
|
UTSW |
16 |
30,078,115 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9406:Cpn2
|
UTSW |
16 |
30,078,360 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9523:Cpn2
|
UTSW |
16 |
30,078,759 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
RF021:Cpn2
|
UTSW |
16 |
30,078,156 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2013-04-17 |
Incidental Mutation