Incidental Mutation 'R5392:Cpa5'
| ID |
425899 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cpa5
|
| Ensembl Gene |
ENSMUSG00000029788 |
| Gene Name |
carboxypeptidase A5 |
| Synonyms |
4930430M09Rik |
| MMRRC Submission |
042964-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.086)
|
| Stock # |
R5392 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
30611009-30631744 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 30630829 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 364
(Q364*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110792
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062758]
[ENSMUST00000115138]
[ENSMUST00000115139]
[ENSMUST00000165949]
|
| AlphaFold |
Q8R4H4 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000062758
AA Change: Q364*
|
| SMART Domains |
Protein: ENSMUSP00000057722
Gene: ENSMUSG00000029788
AA Change: Q364*
| 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
|
| SMART Domains |
Protein: ENSMUSP00000110791
Gene: ENSMUSG00000029788
| 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 null
Transcript: ENSMUST00000115139
AA Change: Q364*
|
| SMART Domains |
Protein: ENSMUSP00000110792
Gene: ENSMUSG00000029788
AA Change: Q364*
| 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
|
| SMART Domains |
Protein: ENSMUSP00000126436
Gene: ENSMUSG00000029788
| 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: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.8%
|
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acoxl |
T |
C |
2: 127,852,088 (GRCm39) |
|
probably null |
Het |
| Acyp1 |
T |
C |
12: 85,325,759 (GRCm39) |
|
probably benign |
Het |
| Ces1b |
G |
A |
8: 93,798,590 (GRCm39) |
R199C |
probably damaging |
Het |
| Col6a3 |
C |
A |
1: 90,729,017 (GRCm39) |
R1308L |
probably benign |
Het |
| Cyth4 |
T |
A |
15: 78,491,185 (GRCm39) |
L88Q |
probably damaging |
Het |
| Dock7 |
A |
G |
4: 98,896,243 (GRCm39) |
V59A |
probably damaging |
Het |
| Drd2 |
A |
G |
9: 49,306,928 (GRCm39) |
N5D |
possibly damaging |
Het |
| Epsti1 |
T |
C |
14: 78,224,184 (GRCm39) |
I272T |
probably benign |
Het |
| Fndc3b |
A |
T |
3: 27,519,936 (GRCm39) |
C568* |
probably null |
Het |
| Frmd4a |
C |
T |
2: 4,599,384 (GRCm39) |
A161V |
probably damaging |
Het |
| Gfpt1 |
A |
G |
6: 87,054,139 (GRCm39) |
T465A |
probably damaging |
Het |
| Hecw1 |
C |
A |
13: 14,420,347 (GRCm39) |
Q1025H |
probably damaging |
Het |
| Irak4 |
A |
T |
15: 94,454,565 (GRCm39) |
M237L |
probably benign |
Het |
| Irak4 |
T |
C |
15: 94,454,566 (GRCm39) |
M237T |
probably benign |
Het |
| Kdsr |
T |
A |
1: 106,680,971 (GRCm39) |
I76F |
possibly damaging |
Het |
| Kif15 |
T |
C |
9: 122,825,360 (GRCm39) |
F533S |
probably damaging |
Het |
| Kmt5b |
T |
C |
19: 3,852,127 (GRCm39) |
F103L |
possibly damaging |
Het |
| Krtcap2 |
C |
T |
3: 89,154,186 (GRCm39) |
L36F |
probably benign |
Het |
| Mroh7 |
A |
G |
4: 106,568,448 (GRCm39) |
|
probably null |
Het |
| Mta1 |
T |
C |
12: 113,096,856 (GRCm39) |
V559A |
probably benign |
Het |
| N4bp1 |
A |
G |
8: 87,587,048 (GRCm39) |
|
probably null |
Het |
| Oas1d |
T |
C |
5: 121,055,003 (GRCm39) |
S192P |
possibly damaging |
Het |
| Or1n1b |
T |
A |
2: 36,780,686 (GRCm39) |
Y58F |
probably benign |
Het |
| Or6c76 |
A |
G |
10: 129,612,184 (GRCm39) |
I149V |
probably benign |
Het |
| Or6d15 |
A |
G |
6: 116,559,379 (GRCm39) |
F176S |
probably damaging |
Het |
| Rabgap1 |
T |
A |
2: 37,359,501 (GRCm39) |
N21K |
probably damaging |
Het |
| Rad9b |
A |
T |
5: 122,489,641 (GRCm39) |
C25S |
probably damaging |
Het |
| Spg7 |
T |
C |
8: 123,814,102 (GRCm39) |
S454P |
probably damaging |
Het |
| Spink2 |
T |
A |
5: 77,354,872 (GRCm39) |
H40L |
probably benign |
Het |
| Syne1 |
T |
A |
10: 5,298,661 (GRCm39) |
D1082V |
probably damaging |
Het |
| Syt2 |
A |
G |
1: 134,671,759 (GRCm39) |
D179G |
probably damaging |
Het |
| Tm7sf2 |
T |
C |
19: 6,113,998 (GRCm39) |
D181G |
probably damaging |
Het |
| Vmn1r174 |
A |
G |
7: 23,454,227 (GRCm39) |
I298V |
unknown |
Het |
| Vmn2r23 |
A |
T |
6: 123,681,323 (GRCm39) |
H77L |
probably benign |
Het |
| Vps51 |
T |
G |
19: 6,121,063 (GRCm39) |
E283D |
probably benign |
Het |
| Vps9d1 |
T |
C |
8: 123,980,752 (GRCm39) |
E25G |
probably damaging |
Het |
| Zfp119a |
T |
C |
17: 56,173,328 (GRCm39) |
R172G |
probably benign |
Het |
| Zfp51 |
A |
T |
17: 21,685,584 (GRCm39) |
Y733F |
possibly damaging |
Het |
| Zfp658 |
A |
C |
7: 43,222,355 (GRCm39) |
E210A |
probably benign |
Het |
| Zp2 |
C |
A |
7: 119,734,987 (GRCm39) |
E433* |
probably null |
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 |
|
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'- TATGAGGGTCTGGGCCAGTAATAG -3'
(R):5'- TTTCCCCTCGGAGGACTTTG -3'
Sequencing Primer
(F):5'- TAGGAAGAATCAGTAGAGTTGTTCCC -3'
(R):5'- CCTCGGAGGACTTTGTAACAG -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation