Incidental Mutation 'IGL03341:Cpa5'
| ID |
417213 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cpa5
|
| Ensembl Gene |
ENSMUSG00000029788 |
| Gene Name |
carboxypeptidase A5 |
| Synonyms |
4930430M09Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.074)
|
| Stock # |
IGL03341
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
30611009-30631744 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 30626290 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 217
(Y217C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126436
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062758]
[ENSMUST00000115138]
[ENSMUST00000115139]
[ENSMUST00000165949]
|
| AlphaFold |
Q8R4H4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000062758
AA Change: Y217C
PolyPhen 2
Score 0.208 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000057722
Gene: ENSMUSG00000029788
AA Change: Y217C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Propep_M14
|
43 |
117 |
5.6e-23 |
PFAM |
|
Zn_pept
|
139 |
419 |
4.83e-125 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115138
AA Change: Y217C
PolyPhen 2
Score 0.324 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000110791
Gene: ENSMUSG00000029788
AA Change: Y217C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Propep_M14
|
43 |
118 |
9.9e-26 |
PFAM |
|
Zn_pept
|
139 |
395 |
4.62e-81 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115139
AA Change: Y217C
PolyPhen 2
Score 0.208 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000110792
Gene: ENSMUSG00000029788
AA Change: Y217C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Propep_M14
|
43 |
118 |
4.6e-25 |
PFAM |
|
Zn_pept
|
139 |
419 |
4.83e-125 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000165949
AA Change: Y217C
PolyPhen 2
Score 0.570 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000126436
Gene: ENSMUSG00000029788
AA Change: Y217C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Propep_M14
|
43 |
118 |
6.4e-26 |
PFAM |
|
Zn_pept
|
139 |
309 |
3.6e-19 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a member of the carboxypeptidase A family of zinc metalloproteases. The encoded preproprotein undergoes proteolytic processing that removes the N-terminal activation peptide to generate a functional enzyme. This gene is expressed in mouse testes where the encoded protein is localized to the germ cells. This gene is located in a cluster of carboxypeptidase genes on chromosome 6. [provided by RefSeq, Jul 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930402F06Rik |
C |
T |
2: 35,265,906 (GRCm39) |
V255I |
possibly damaging |
Het |
| Acvrl1 |
T |
A |
15: 101,035,477 (GRCm39) |
N334K |
probably damaging |
Het |
| Arhgef5 |
T |
A |
6: 43,257,585 (GRCm39) |
I1284N |
probably damaging |
Het |
| Asns |
C |
A |
6: 7,682,002 (GRCm39) |
R236L |
probably damaging |
Het |
| Barx2 |
T |
C |
9: 31,770,090 (GRCm39) |
E146G |
probably damaging |
Het |
| Ccl7 |
A |
G |
11: 81,936,661 (GRCm39) |
S18G |
probably benign |
Het |
| Cilp |
A |
T |
9: 65,185,284 (GRCm39) |
T460S |
probably benign |
Het |
| Dgkh |
T |
A |
14: 78,832,931 (GRCm39) |
|
probably benign |
Het |
| Dmc1 |
T |
C |
15: 79,446,746 (GRCm39) |
T276A |
probably benign |
Het |
| Fryl |
G |
A |
5: 73,234,038 (GRCm39) |
P1496S |
probably benign |
Het |
| Gstm2 |
T |
C |
3: 107,891,521 (GRCm39) |
Y93C |
possibly damaging |
Het |
| Hc |
A |
T |
2: 34,893,389 (GRCm39) |
I1274N |
probably damaging |
Het |
| Htra1 |
A |
G |
7: 130,583,444 (GRCm39) |
I355V |
probably benign |
Het |
| Ifi214 |
G |
T |
1: 173,354,082 (GRCm39) |
T196K |
possibly damaging |
Het |
| Ms4a5 |
T |
C |
19: 11,256,742 (GRCm39) |
T52A |
probably benign |
Het |
| Mtx3 |
T |
C |
13: 92,984,391 (GRCm39) |
F191L |
probably damaging |
Het |
| Padi2 |
A |
G |
4: 140,654,424 (GRCm39) |
M192V |
probably benign |
Het |
| Pdcl3 |
C |
A |
1: 39,034,976 (GRCm39) |
Q178K |
probably benign |
Het |
| Rap1gap2 |
G |
A |
11: 74,326,540 (GRCm39) |
R176W |
probably damaging |
Het |
| Ska2 |
A |
G |
11: 87,006,990 (GRCm39) |
T32A |
probably benign |
Het |
| Slc6a18 |
G |
T |
13: 73,826,042 (GRCm39) |
Q3K |
probably benign |
Het |
| Slc7a14 |
T |
C |
3: 31,292,919 (GRCm39) |
Y122C |
probably damaging |
Het |
| Svep1 |
T |
A |
4: 58,070,308 (GRCm39) |
K2493* |
probably null |
Het |
| Trpm6 |
T |
A |
19: 18,790,850 (GRCm39) |
N628K |
probably benign |
Het |
| Ttc17 |
T |
A |
2: 94,205,566 (GRCm39) |
N260I |
probably damaging |
Het |
| Ttc7b |
T |
C |
12: 100,291,994 (GRCm39) |
I193V |
possibly damaging |
Het |
| Ttn |
T |
A |
2: 76,542,583 (GRCm39) |
T25141S |
possibly damaging |
Het |
| Zfhx4 |
A |
C |
3: 5,476,910 (GRCm39) |
Q3150P |
probably damaging |
Het |
|
| Other mutations in Cpa5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01757:Cpa5
|
APN |
6 |
30,625,926 (GRCm39) |
splice site |
probably benign |
|
|
IGL02577:Cpa5
|
APN |
6 |
30,626,807 (GRCm39) |
splice site |
probably benign |
|
|
IGL03148:Cpa5
|
APN |
6 |
30,630,436 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0836:Cpa5
|
UTSW |
6 |
30,623,210 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1437:Cpa5
|
UTSW |
6 |
30,624,654 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2146:Cpa5
|
UTSW |
6 |
30,626,821 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2285:Cpa5
|
UTSW |
6 |
30,615,063 (GRCm39) |
missense |
probably benign |
0.09 |
|
R2334:Cpa5
|
UTSW |
6 |
30,624,605 (GRCm39) |
nonsense |
probably null |
|
|
R4081:Cpa5
|
UTSW |
6 |
30,631,228 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4454:Cpa5
|
UTSW |
6 |
30,626,323 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R4483:Cpa5
|
UTSW |
6 |
30,624,625 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4758:Cpa5
|
UTSW |
6 |
30,615,159 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R4771:Cpa5
|
UTSW |
6 |
30,612,684 (GRCm39) |
nonsense |
probably null |
|
|
R4953:Cpa5
|
UTSW |
6 |
30,631,363 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R5053:Cpa5
|
UTSW |
6 |
30,623,271 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5392:Cpa5
|
UTSW |
6 |
30,630,829 (GRCm39) |
nonsense |
probably null |
|
|
R5593:Cpa5
|
UTSW |
6 |
30,630,848 (GRCm39) |
missense |
probably benign |
0.10 |
|
R5745:Cpa5
|
UTSW |
6 |
30,630,436 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5900:Cpa5
|
UTSW |
6 |
30,615,115 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6264:Cpa5
|
UTSW |
6 |
30,613,984 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6268:Cpa5
|
UTSW |
6 |
30,615,172 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6376:Cpa5
|
UTSW |
6 |
30,614,044 (GRCm39) |
missense |
probably benign |
|
|
R6634:Cpa5
|
UTSW |
6 |
30,626,363 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6814:Cpa5
|
UTSW |
6 |
30,614,053 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6872:Cpa5
|
UTSW |
6 |
30,614,053 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6989:Cpa5
|
UTSW |
6 |
30,625,891 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7205:Cpa5
|
UTSW |
6 |
30,630,829 (GRCm39) |
missense |
probably benign |
|
|
R7499:Cpa5
|
UTSW |
6 |
30,630,856 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R7864:Cpa5
|
UTSW |
6 |
30,631,394 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8170:Cpa5
|
UTSW |
6 |
30,624,594 (GRCm39) |
missense |
probably benign |
0.35 |
|
R9027:Cpa5
|
UTSW |
6 |
30,612,604 (GRCm39) |
start codon destroyed |
probably null |
0.88 |
|
R9395:Cpa5
|
UTSW |
6 |
30,631,280 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9607:Cpa5
|
UTSW |
6 |
30,626,338 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9687:Cpa5
|
UTSW |
6 |
30,614,041 (GRCm39) |
missense |
probably benign |
|
|
R9794:Cpa5
|
UTSW |
6 |
30,625,920 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Posted On |
2016-08-02 |
Incidental Mutation