Incidental Mutation 'IGL00933:Cpa6'
| ID |
26657 |
| 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: 0.162)
|
| Stock # |
IGL00933
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
10394945-10790170 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 10407595 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 314
(H314R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000035435
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035577]
[ENSMUST00000153695]
|
| AlphaFold |
Q5U901 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000035577
AA Change: H314R
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000035435
Gene: ENSMUSG00000042501
AA Change: H314R
| 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 |
probably benign
Transcript: ENSMUST00000153695
|
| SMART Domains |
Protein: ENSMUSP00000118341
Gene: ENSMUSG00000042501
| 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: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arrdc3 |
T |
A |
13: 81,039,174 (GRCm39) |
|
probably benign |
Het |
| Brca2 |
A |
G |
5: 150,465,869 (GRCm39) |
S1878G |
probably benign |
Het |
| Ehbp1l1 |
A |
G |
19: 5,767,961 (GRCm39) |
I1114T |
probably benign |
Het |
| Eml3 |
G |
A |
19: 8,913,762 (GRCm39) |
W73* |
probably null |
Het |
| Fmo4 |
G |
T |
1: 162,621,592 (GRCm39) |
Q540K |
probably benign |
Het |
| Fstl4 |
G |
A |
11: 53,077,588 (GRCm39) |
G782R |
possibly damaging |
Het |
| Itga11 |
T |
C |
9: 62,676,587 (GRCm39) |
I925T |
possibly damaging |
Het |
| Itsn2 |
T |
G |
12: 4,757,540 (GRCm39) |
F1411C |
probably damaging |
Het |
| Lmna |
A |
T |
3: 88,389,856 (GRCm39) |
C590S |
possibly damaging |
Het |
| Magi3 |
A |
G |
3: 103,923,163 (GRCm39) |
Y1185H |
probably benign |
Het |
| Marf1 |
A |
G |
16: 13,935,221 (GRCm39) |
Y1516H |
probably damaging |
Het |
| Mast4 |
T |
C |
13: 102,871,874 (GRCm39) |
D2306G |
probably damaging |
Het |
| Ncoa6 |
A |
G |
2: 155,257,317 (GRCm39) |
V742A |
probably damaging |
Het |
| Nol4l |
A |
G |
2: 153,319,856 (GRCm39) |
F175S |
probably damaging |
Het |
| Or9k2b |
A |
T |
10: 130,016,083 (GRCm39) |
M222K |
probably benign |
Het |
| Orm2 |
T |
C |
4: 63,282,389 (GRCm39) |
|
probably benign |
Het |
| Pik3cb |
T |
A |
9: 98,983,339 (GRCm39) |
T90S |
probably damaging |
Het |
| Plekhg2 |
G |
A |
7: 28,060,114 (GRCm39) |
P1072S |
probably benign |
Het |
| Rgr |
A |
T |
14: 36,760,875 (GRCm39) |
Y227* |
probably null |
Het |
| Snd1 |
T |
C |
6: 28,512,985 (GRCm39) |
|
probably null |
Het |
| Zfp560 |
A |
G |
9: 20,260,104 (GRCm39) |
S253P |
probably benign |
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 |
|
IGL01710:Cpa6
|
APN |
1 |
10,395,497 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02211:Cpa6
|
APN |
1 |
10,665,861 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
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 |
2013-04-17 |
Incidental Mutation