Incidental Mutation 'IGL02182:Cpz'
ID |
283293 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Cpz
|
Ensembl Gene |
ENSMUSG00000036596 |
Gene Name |
carboxypeptidase Z |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.633)
|
Stock # |
IGL02182
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
35659562-35682970 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 35675066 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Phenylalanine
at position 61
(Y61F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000039804
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038676]
[ENSMUST00000132959]
|
AlphaFold |
Q8R4V4 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000038676
AA Change: Y61F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000039804 Gene: ENSMUSG00000036596 AA Change: Y61F
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
low complexity region
|
23 |
35 |
N/A |
INTRINSIC |
FRI
|
47 |
167 |
7.02e-38 |
SMART |
low complexity region
|
300 |
313 |
N/A |
INTRINSIC |
Zn_pept
|
314 |
626 |
1.32e-44 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000132959
AA Change: Y50F
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000123537 Gene: ENSMUSG00000036596 AA Change: Y50F
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
low complexity region
|
23 |
34 |
N/A |
INTRINSIC |
Pfam:Fz
|
37 |
102 |
4.7e-9 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the metallocarboxypeptidase family. This enzyme displays carboxypeptidase activity towards substrates with basic C-terminal residues. It is most active at neutral pH and is inhibited by active site-directed inhibitors of metallocarboxypeptidases. Alternative splicing in the coding region results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam34 |
T |
A |
8: 44,104,790 (GRCm39) |
N285I |
probably benign |
Het |
Adprh |
T |
C |
16: 38,267,838 (GRCm39) |
H149R |
probably benign |
Het |
Ahctf1 |
A |
G |
1: 179,580,643 (GRCm39) |
V1853A |
probably benign |
Het |
Ank1 |
T |
C |
8: 23,603,868 (GRCm39) |
V905A |
possibly damaging |
Het |
Atp10b |
T |
G |
11: 43,139,774 (GRCm39) |
L1234R |
probably damaging |
Het |
Bco1 |
G |
A |
8: 117,859,805 (GRCm39) |
A503T |
probably damaging |
Het |
Clxn |
T |
A |
16: 14,738,659 (GRCm39) |
D163E |
probably damaging |
Het |
Dnah8 |
T |
A |
17: 31,013,737 (GRCm39) |
M3826K |
possibly damaging |
Het |
Dtd2 |
A |
G |
12: 52,046,492 (GRCm39) |
S116P |
probably benign |
Het |
Eml5 |
T |
C |
12: 98,768,581 (GRCm39) |
D1498G |
probably damaging |
Het |
Fat4 |
T |
C |
3: 38,944,695 (GRCm39) |
V1196A |
probably damaging |
Het |
Gm15557 |
T |
C |
2: 155,783,737 (GRCm39) |
D405G |
probably damaging |
Het |
Lpp |
C |
T |
16: 24,580,895 (GRCm39) |
R204W |
probably damaging |
Het |
Mfsd11 |
T |
A |
11: 116,764,740 (GRCm39) |
V388E |
possibly damaging |
Het |
Ms4a20 |
A |
T |
19: 11,074,436 (GRCm39) |
|
probably benign |
Het |
Or10a3m |
A |
G |
7: 108,313,075 (GRCm39) |
T160A |
probably benign |
Het |
Or52b4 |
A |
G |
7: 102,184,775 (GRCm39) |
I274V |
probably benign |
Het |
Pik3cg |
A |
T |
12: 32,255,272 (GRCm39) |
D238E |
possibly damaging |
Het |
Plcb3 |
T |
C |
19: 6,946,988 (GRCm39) |
H9R |
probably benign |
Het |
Ppp3cc |
A |
C |
14: 70,462,473 (GRCm39) |
V388G |
probably benign |
Het |
Ranbp2 |
T |
A |
10: 58,321,582 (GRCm39) |
C2626* |
probably null |
Het |
Resp18 |
T |
C |
1: 75,250,615 (GRCm39) |
T155A |
probably benign |
Het |
Ror2 |
C |
T |
13: 53,264,764 (GRCm39) |
S764N |
probably damaging |
Het |
Scarb2 |
C |
T |
5: 92,601,913 (GRCm39) |
S327N |
probably damaging |
Het |
Secisbp2l |
T |
A |
2: 125,589,497 (GRCm39) |
I684F |
probably damaging |
Het |
Slc39a6 |
T |
C |
18: 24,734,347 (GRCm39) |
D114G |
probably damaging |
Het |
Smap1 |
T |
A |
1: 23,898,180 (GRCm39) |
E85D |
probably damaging |
Het |
Tas2r121 |
T |
A |
6: 132,677,133 (GRCm39) |
I280F |
probably damaging |
Het |
Uhrf2 |
T |
C |
19: 30,016,609 (GRCm39) |
V86A |
probably benign |
Het |
Vip |
A |
T |
10: 5,593,561 (GRCm39) |
Y91F |
probably benign |
Het |
Zfp318 |
C |
T |
17: 46,707,736 (GRCm39) |
R265* |
probably null |
Het |
Zfp618 |
G |
A |
4: 63,013,798 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Cpz |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01673:Cpz
|
APN |
5 |
35,669,891 (GRCm39) |
missense |
probably benign |
|
IGL02290:Cpz
|
APN |
5 |
35,668,486 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02632:Cpz
|
APN |
5 |
35,669,155 (GRCm39) |
missense |
possibly damaging |
0.95 |
PIT4810001:Cpz
|
UTSW |
5 |
35,665,536 (GRCm39) |
missense |
possibly damaging |
0.96 |
R0334:Cpz
|
UTSW |
5 |
35,661,025 (GRCm39) |
missense |
probably damaging |
0.99 |
R0918:Cpz
|
UTSW |
5 |
35,674,998 (GRCm39) |
missense |
probably damaging |
1.00 |
R1664:Cpz
|
UTSW |
5 |
35,664,087 (GRCm39) |
missense |
probably damaging |
1.00 |
R1666:Cpz
|
UTSW |
5 |
35,665,460 (GRCm39) |
critical splice donor site |
probably null |
|
R1733:Cpz
|
UTSW |
5 |
35,675,102 (GRCm39) |
missense |
probably damaging |
1.00 |
R1851:Cpz
|
UTSW |
5 |
35,659,902 (GRCm39) |
missense |
possibly damaging |
0.90 |
R1920:Cpz
|
UTSW |
5 |
35,675,012 (GRCm39) |
missense |
probably damaging |
1.00 |
R1943:Cpz
|
UTSW |
5 |
35,669,772 (GRCm39) |
missense |
probably damaging |
1.00 |
R2866:Cpz
|
UTSW |
5 |
35,659,705 (GRCm39) |
missense |
probably benign |
0.09 |
R2867:Cpz
|
UTSW |
5 |
35,659,705 (GRCm39) |
missense |
probably benign |
0.09 |
R2867:Cpz
|
UTSW |
5 |
35,659,705 (GRCm39) |
missense |
probably benign |
0.09 |
R2892:Cpz
|
UTSW |
5 |
35,668,473 (GRCm39) |
missense |
probably damaging |
1.00 |
R3795:Cpz
|
UTSW |
5 |
35,669,093 (GRCm39) |
missense |
probably benign |
|
R4238:Cpz
|
UTSW |
5 |
35,659,818 (GRCm39) |
missense |
probably benign |
0.04 |
R4886:Cpz
|
UTSW |
5 |
35,664,048 (GRCm39) |
missense |
probably damaging |
1.00 |
R4948:Cpz
|
UTSW |
5 |
35,674,748 (GRCm39) |
missense |
possibly damaging |
0.69 |
R5936:Cpz
|
UTSW |
5 |
35,659,987 (GRCm39) |
missense |
probably benign |
0.00 |
R6023:Cpz
|
UTSW |
5 |
35,669,922 (GRCm39) |
missense |
probably benign |
0.34 |
R6035:Cpz
|
UTSW |
5 |
35,674,929 (GRCm39) |
missense |
probably damaging |
1.00 |
R6035:Cpz
|
UTSW |
5 |
35,674,929 (GRCm39) |
missense |
probably damaging |
1.00 |
R7346:Cpz
|
UTSW |
5 |
35,675,000 (GRCm39) |
missense |
probably damaging |
1.00 |
R7431:Cpz
|
UTSW |
5 |
35,668,486 (GRCm39) |
missense |
probably benign |
0.00 |
R7620:Cpz
|
UTSW |
5 |
35,669,194 (GRCm39) |
missense |
possibly damaging |
0.82 |
R9040:Cpz
|
UTSW |
5 |
35,672,835 (GRCm39) |
missense |
possibly damaging |
0.77 |
R9103:Cpz
|
UTSW |
5 |
35,675,054 (GRCm39) |
missense |
probably benign |
0.00 |
Z1177:Cpz
|
UTSW |
5 |
35,669,105 (GRCm39) |
nonsense |
probably null |
|
|
Posted On |
2015-04-16 |