Incidental Mutation 'R6634:Cpa5'
ID |
525373 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cpa5
|
Ensembl Gene |
ENSMUSG00000029788 |
Gene Name |
carboxypeptidase A5 |
Synonyms |
4930430M09Rik |
MMRRC Submission |
044756-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.074)
|
Stock # |
R6634 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
30611009-30631744 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 30626363 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 241
(D241E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000126436
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062758]
[ENSMUST00000115138]
[ENSMUST00000115139]
[ENSMUST00000165949]
|
AlphaFold |
Q8R4H4 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000062758
AA Change: D241E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000057722 Gene: ENSMUSG00000029788 AA Change: D241E
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 damaging
Transcript: ENSMUST00000115138
AA Change: D241E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000110791 Gene: ENSMUSG00000029788 AA Change: D241E
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 damaging
Transcript: ENSMUST00000115139
AA Change: D241E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000110792 Gene: ENSMUSG00000029788 AA Change: D241E
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 damaging
Transcript: ENSMUST00000165949
AA Change: D241E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000126436 Gene: ENSMUSG00000029788 AA Change: D241E
Domain | Start | End | E-Value | Type |
Pfam:Propep_M14
|
43 |
118 |
6.4e-26 |
PFAM |
Zn_pept
|
139 |
309 |
3.6e-19 |
SMART |
|
Meta Mutation Damage Score |
0.8766 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 92.8%
|
Validation Efficiency |
97% (31/32) |
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: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921539E11Rik |
C |
T |
4: 103,094,127 (GRCm39) |
|
probably null |
Het |
Alox12b |
C |
A |
11: 69,059,647 (GRCm39) |
Y566* |
probably null |
Het |
Chl1 |
T |
A |
6: 103,667,220 (GRCm39) |
S403R |
probably damaging |
Het |
Crebbp |
C |
T |
16: 3,937,670 (GRCm39) |
A698T |
possibly damaging |
Het |
Cyp2t4 |
C |
A |
7: 26,855,213 (GRCm39) |
C121* |
probably null |
Het |
Dkkl1 |
C |
A |
7: 44,859,882 (GRCm39) |
R56L |
possibly damaging |
Het |
Ebf3 |
A |
G |
7: 136,802,889 (GRCm39) |
V387A |
probably damaging |
Het |
Efcab3 |
T |
C |
11: 104,784,609 (GRCm39) |
M2797T |
probably benign |
Het |
Fer1l5 |
A |
G |
1: 36,450,466 (GRCm39) |
T1212A |
probably damaging |
Het |
Galnt16 |
T |
A |
12: 80,565,944 (GRCm39) |
M1K |
probably null |
Het |
Gm5800 |
A |
G |
14: 51,953,595 (GRCm39) |
S7P |
possibly damaging |
Het |
Gstp1 |
T |
A |
19: 4,085,510 (GRCm39) |
H199L |
probably benign |
Het |
Herc1 |
T |
C |
9: 66,345,026 (GRCm39) |
S1940P |
probably benign |
Het |
Igkv8-24 |
C |
T |
6: 70,194,365 (GRCm39) |
W14* |
probably null |
Het |
Iqcd |
C |
A |
5: 120,738,556 (GRCm39) |
Q125K |
probably benign |
Het |
Lpin2 |
T |
A |
17: 71,553,413 (GRCm39) |
D812E |
probably damaging |
Het |
Ltb4r2 |
T |
A |
14: 55,999,962 (GRCm39) |
|
probably null |
Het |
Morc2a |
T |
C |
11: 3,622,376 (GRCm39) |
|
probably null |
Het |
Myh1 |
A |
T |
11: 67,099,890 (GRCm39) |
N600I |
possibly damaging |
Het |
Nedd9 |
T |
A |
13: 41,465,584 (GRCm39) |
K685N |
probably damaging |
Het |
Or10aa3 |
A |
G |
1: 173,878,535 (GRCm39) |
I199V |
probably benign |
Het |
Otogl |
A |
C |
10: 107,698,165 (GRCm39) |
V735G |
probably damaging |
Het |
Pcnx1 |
T |
A |
12: 81,964,656 (GRCm39) |
Y274* |
probably null |
Het |
Pias1 |
A |
T |
9: 62,826,706 (GRCm39) |
I252N |
probably damaging |
Het |
Pitpnm3 |
T |
C |
11: 71,942,755 (GRCm39) |
D844G |
probably null |
Het |
Satb2 |
G |
T |
1: 56,884,880 (GRCm39) |
S348* |
probably null |
Het |
Sfxn1 |
T |
A |
13: 54,247,048 (GRCm39) |
V180D |
probably damaging |
Het |
Slc35g3 |
A |
T |
11: 69,651,109 (GRCm39) |
V314D |
probably damaging |
Het |
Tmem200c |
C |
A |
17: 69,149,101 (GRCm39) |
D561E |
probably benign |
Het |
Usp53 |
T |
A |
3: 122,757,935 (GRCm39) |
Q69L |
probably benign |
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 |
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 |
|
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'- GATGCATTTGATTACCCAGTGCC -3'
(R):5'- GGGCAAGACGGCTTTAATCC -3'
Sequencing Primer
(F):5'- TGATTACCCAGTGCCACCCC -3'
(R):5'- GGCAAGACGGCTTTAATCCCATAG -3'
|
Posted On |
2018-06-22 |