Incidental Mutation 'R2285:Cpa5'
| ID |
243275 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cpa5
|
| Ensembl Gene |
ENSMUSG00000029788 |
| Gene Name |
carboxypeptidase A5 |
| Synonyms |
4930430M09Rik |
| MMRRC Submission |
040284-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.086)
|
| Stock # |
R2285 (G1)
|
| Quality Score |
175 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
30611009-30631744 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 30615063 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 67
(V67L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110792
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062758]
[ENSMUST00000115138]
[ENSMUST00000115139]
[ENSMUST00000165949]
|
| AlphaFold |
Q8R4H4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000062758
AA Change: V67L
PolyPhen 2
Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000057722
Gene: ENSMUSG00000029788
AA Change: V67L
| 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: V67L
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000110791
Gene: ENSMUSG00000029788
AA Change: V67L
| 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: V67L
PolyPhen 2
Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000110792
Gene: ENSMUSG00000029788
AA Change: V67L
| 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 |
probably benign
Transcript: ENSMUST00000165949
AA Change: V67L
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000126436
Gene: ENSMUSG00000029788
AA Change: V67L
| 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 |
- 1x: 99.1%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
| 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: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg3 |
A |
G |
5: 105,087,037 (GRCm39) |
Y532H |
probably damaging |
Het |
| Bbs9 |
T |
G |
9: 22,590,230 (GRCm39) |
L656W |
probably damaging |
Het |
| Cibar2 |
T |
C |
8: 120,895,276 (GRCm39) |
N209D |
probably benign |
Het |
| Clu |
T |
C |
14: 66,218,408 (GRCm39) |
S423P |
probably benign |
Het |
| Cnpy4 |
A |
G |
5: 138,191,087 (GRCm39) |
|
probably null |
Het |
| Col28a1 |
A |
T |
6: 8,097,078 (GRCm39) |
V440E |
probably damaging |
Het |
| Colgalt2 |
A |
G |
1: 152,344,301 (GRCm39) |
N121S |
probably benign |
Het |
| Emilin1 |
G |
A |
5: 31,075,544 (GRCm39) |
R595H |
probably damaging |
Het |
| Fat3 |
G |
T |
9: 16,287,469 (GRCm39) |
Q685K |
probably damaging |
Het |
| Gfra4 |
C |
T |
2: 130,883,651 (GRCm39) |
R34H |
probably damaging |
Het |
| Gp2 |
C |
T |
7: 119,049,308 (GRCm39) |
V410M |
possibly damaging |
Het |
| Ints9 |
T |
C |
14: 65,245,446 (GRCm39) |
F235L |
possibly damaging |
Het |
| Kcnh3 |
A |
T |
15: 99,139,873 (GRCm39) |
I920F |
probably benign |
Het |
| Mipep |
T |
C |
14: 61,024,843 (GRCm39) |
S95P |
possibly damaging |
Het |
| Naip6 |
C |
T |
13: 100,437,108 (GRCm39) |
A472T |
probably benign |
Het |
| Nxpe3 |
C |
T |
16: 55,686,588 (GRCm39) |
G140D |
probably damaging |
Het |
| Or6c66b |
A |
G |
10: 129,376,537 (GRCm39) |
I44V |
probably benign |
Het |
| Ppcs |
T |
A |
4: 119,276,174 (GRCm39) |
K137I |
possibly damaging |
Het |
| Tmc1 |
A |
G |
19: 20,767,163 (GRCm39) |
M731T |
probably damaging |
Het |
| Tubgcp6 |
A |
T |
15: 89,006,677 (GRCm39) |
V115D |
probably damaging |
Het |
| Usp54 |
G |
A |
14: 20,611,246 (GRCm39) |
T1190I |
possibly damaging |
Het |
| Zfp51 |
T |
A |
17: 21,684,137 (GRCm39) |
F251I |
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 |
|
IGL03341:Cpa5
|
APN |
6 |
30,626,290 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CATTGCAATGAGTGAGTGAGCG -3'
(R):5'- TGAGCTCCTTACTGTGAGCC -3'
Sequencing Primer
(F):5'- ATTCTTGTCTGTAGACCATGGG -3'
(R):5'- CTCCTTACTGTGAGCCAGGGTAG -3'
|
| Posted On |
2014-10-16 |
Incidental Mutation