Incidental Mutation 'IGL02211:Cpa6'
| ID |
284705 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cpa6
|
| Ensembl Gene |
ENSMUSG00000042501 |
| Gene Name |
carboxypeptidase A6 |
| Synonyms |
9030616D13Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.144)
|
| Stock # |
IGL02211
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
10394945-10790170 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 10665861 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Lysine
at position 59
(I59K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118341
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035577]
[ENSMUST00000153695]
|
| AlphaFold |
Q5U901 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000035577
AA Change: I59K
PolyPhen 2
Score 0.785 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000035435
Gene: ENSMUSG00000042501
AA Change: I59K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Propep_M14
|
43 |
119 |
3.1e-17 |
PFAM |
|
Zn_pept
|
139 |
421 |
2.19e-123 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140938
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000153695
AA Change: I59K
PolyPhen 2
Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000118341
Gene: ENSMUSG00000042501
AA Change: I59K
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
30 |
N/A |
INTRINSIC |
|
SCOP:d1kwma2
|
31 |
64 |
2e-4 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a protein that belongs to the metallocarboxypeptidase family of proteins that catalyze the release of a C-terminal amino acid from the target protein. The encoded preproprotein undergoes proteolytic cleavage to yield the mature form which is thought to play a role in cell migration. In humans, this protein regulates neuropeptides in the brain and mutations in this gene are associated with a recessive familial form of febrile seizures and with temporal lobe epilepsy. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2014]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Apoc3 |
C |
A |
9: 46,144,513 (GRCm39) |
|
probably benign |
Het |
| Atp8a2 |
C |
T |
14: 60,265,425 (GRCm39) |
G304R |
probably benign |
Het |
| Brd8 |
C |
T |
18: 34,735,780 (GRCm39) |
S899N |
probably damaging |
Het |
| Cct4 |
A |
G |
11: 22,943,327 (GRCm39) |
|
probably benign |
Het |
| Cd28 |
T |
C |
1: 60,802,153 (GRCm39) |
V24A |
probably damaging |
Het |
| Cfap70 |
T |
C |
14: 20,445,040 (GRCm39) |
N1080S |
probably damaging |
Het |
| Cramp1 |
A |
G |
17: 25,196,610 (GRCm39) |
S835P |
possibly damaging |
Het |
| Crim1 |
T |
C |
17: 78,662,574 (GRCm39) |
L799S |
probably damaging |
Het |
| Cxcl16 |
T |
C |
11: 70,346,858 (GRCm39) |
H95R |
possibly damaging |
Het |
| Dip2c |
T |
A |
13: 9,660,883 (GRCm39) |
C915S |
probably damaging |
Het |
| Dytn |
T |
A |
1: 63,714,089 (GRCm39) |
N137Y |
possibly damaging |
Het |
| Exoc5 |
T |
A |
14: 49,251,667 (GRCm39) |
Q628L |
probably damaging |
Het |
| Flii |
A |
G |
11: 60,609,124 (GRCm39) |
|
probably benign |
Het |
| Hnrnph3 |
A |
T |
10: 62,853,121 (GRCm39) |
|
probably benign |
Het |
| Iqsec1 |
A |
G |
6: 90,648,591 (GRCm39) |
L830P |
probably damaging |
Het |
| Kank1 |
G |
T |
19: 25,407,702 (GRCm39) |
G1232V |
probably damaging |
Het |
| Kcnmb2 |
A |
G |
3: 32,252,483 (GRCm39) |
E228G |
probably damaging |
Het |
| Limk1 |
A |
T |
5: 134,686,491 (GRCm39) |
V538E |
probably damaging |
Het |
| Mmp20 |
T |
A |
9: 7,655,071 (GRCm39) |
I393K |
probably damaging |
Het |
| Mtmr1 |
A |
G |
X: 70,455,863 (GRCm39) |
D574G |
possibly damaging |
Het |
| Nr1h2 |
A |
C |
7: 44,199,884 (GRCm39) |
M345R |
probably damaging |
Het |
| Nyap1 |
T |
C |
5: 137,737,937 (GRCm39) |
H15R |
probably damaging |
Het |
| Or2ak4 |
G |
T |
11: 58,649,196 (GRCm39) |
S235I |
possibly damaging |
Het |
| Or52h7 |
A |
T |
7: 104,214,333 (GRCm39) |
K302* |
probably null |
Het |
| Pde4b |
T |
G |
4: 102,448,019 (GRCm39) |
|
probably benign |
Het |
| Pgrmc2 |
A |
G |
3: 41,037,068 (GRCm39) |
V121A |
probably damaging |
Het |
| Ptges3 |
T |
C |
10: 127,911,927 (GRCm39) |
|
probably benign |
Het |
| Ranbp2 |
T |
C |
10: 58,314,064 (GRCm39) |
S1595P |
probably benign |
Het |
| Rhbdf2 |
A |
G |
11: 116,491,261 (GRCm39) |
F625L |
possibly damaging |
Het |
| Rhpn1 |
T |
C |
15: 75,582,905 (GRCm39) |
S281P |
possibly damaging |
Het |
| Samd3 |
G |
T |
10: 26,109,455 (GRCm39) |
G128W |
probably damaging |
Het |
| Septin5 |
T |
C |
16: 18,443,629 (GRCm39) |
K51E |
probably damaging |
Het |
| Serpina7 |
G |
A |
X: 137,982,062 (GRCm39) |
T185I |
probably damaging |
Het |
| Slc25a25 |
A |
G |
2: 32,307,452 (GRCm39) |
V303A |
probably damaging |
Het |
| Slc5a4b |
A |
T |
10: 75,896,297 (GRCm39) |
|
probably benign |
Het |
| Srpk3 |
A |
T |
X: 72,818,754 (GRCm39) |
H114L |
probably benign |
Het |
| Sybu |
T |
G |
15: 44,536,862 (GRCm39) |
Q360P |
probably damaging |
Het |
| Vmn1r179 |
A |
T |
7: 23,628,630 (GRCm39) |
I274F |
probably benign |
Het |
| Wdsub1 |
G |
T |
2: 59,689,080 (GRCm39) |
R381S |
probably damaging |
Het |
| Wscd1 |
G |
A |
11: 71,679,801 (GRCm39) |
R558H |
probably damaging |
Het |
|
| Other mutations in Cpa6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00858:Cpa6
|
APN |
1 |
10,554,219 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00933:Cpa6
|
APN |
1 |
10,407,595 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL01710:Cpa6
|
APN |
1 |
10,395,497 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02504:Cpa6
|
APN |
1 |
10,559,144 (GRCm39) |
missense |
probably benign |
0.19 |
|
R0487:Cpa6
|
UTSW |
1 |
10,479,487 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R1260:Cpa6
|
UTSW |
1 |
10,395,544 (GRCm39) |
splice site |
probably null |
|
|
R2154:Cpa6
|
UTSW |
1 |
10,407,547 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4705:Cpa6
|
UTSW |
1 |
10,551,283 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4788:Cpa6
|
UTSW |
1 |
10,478,502 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4872:Cpa6
|
UTSW |
1 |
10,665,843 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4941:Cpa6
|
UTSW |
1 |
10,479,562 (GRCm39) |
missense |
probably benign |
0.25 |
|
R5656:Cpa6
|
UTSW |
1 |
10,399,739 (GRCm39) |
missense |
probably benign |
0.19 |
|
R5969:Cpa6
|
UTSW |
1 |
10,559,108 (GRCm39) |
missense |
probably benign |
0.15 |
|
R6019:Cpa6
|
UTSW |
1 |
10,665,868 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R6322:Cpa6
|
UTSW |
1 |
10,547,346 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R6958:Cpa6
|
UTSW |
1 |
10,665,913 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7154:Cpa6
|
UTSW |
1 |
10,407,694 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R7274:Cpa6
|
UTSW |
1 |
10,479,524 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8140:Cpa6
|
UTSW |
1 |
10,395,519 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8559:Cpa6
|
UTSW |
1 |
10,478,574 (GRCm39) |
nonsense |
probably null |
|
|
R9042:Cpa6
|
UTSW |
1 |
10,407,515 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9297:Cpa6
|
UTSW |
1 |
10,554,273 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9355:Cpa6
|
UTSW |
1 |
10,479,520 (GRCm39) |
missense |
probably benign |
0.09 |
|
R9498:Cpa6
|
UTSW |
1 |
10,479,546 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
Z1177:Cpa6
|
UTSW |
1 |
10,399,784 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation