Incidental Mutation 'R2892:Cpz'
| ID |
260121 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cpz
|
| Ensembl Gene |
ENSMUSG00000036596 |
| Gene Name |
carboxypeptidase Z |
| Synonyms |
|
| MMRRC Submission |
040480-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.702)
|
| Stock # |
R2892 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
35659562-35682970 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 35668473 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 379
(V379A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000039804
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038676]
|
| AlphaFold |
Q8R4V4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000038676
AA Change: V379A
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000039804
Gene: ENSMUSG00000036596
AA Change: V379A
| 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 |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acox3 |
A |
G |
5: 35,751,661 (GRCm39) |
D232G |
probably damaging |
Het |
| Ank2 |
T |
C |
3: 127,041,892 (GRCm39) |
|
probably null |
Het |
| Atp6v0a4 |
T |
C |
6: 38,029,952 (GRCm39) |
E704G |
probably benign |
Het |
| Bbx |
A |
G |
16: 50,045,104 (GRCm39) |
Y378H |
probably damaging |
Het |
| Carmil3 |
T |
C |
14: 55,735,770 (GRCm39) |
V574A |
probably damaging |
Het |
| Cyp4f15 |
A |
G |
17: 32,905,182 (GRCm39) |
D55G |
probably benign |
Het |
| Dcun1d2 |
A |
T |
8: 13,328,649 (GRCm39) |
I86N |
probably damaging |
Het |
| Defa30 |
A |
T |
8: 21,624,679 (GRCm39) |
M1L |
probably damaging |
Het |
| Fzd8 |
G |
T |
18: 9,214,514 (GRCm39) |
G532V |
probably damaging |
Het |
| Gcfc2 |
T |
C |
6: 81,933,894 (GRCm39) |
F717S |
possibly damaging |
Het |
| Gckr |
T |
C |
5: 31,483,816 (GRCm39) |
V563A |
probably benign |
Het |
| Ighv1-24 |
T |
G |
12: 114,736,679 (GRCm39) |
K74Q |
probably benign |
Het |
| Kcnj3 |
A |
T |
2: 55,337,027 (GRCm39) |
I298F |
probably damaging |
Het |
| Miga2 |
A |
T |
2: 30,268,306 (GRCm39) |
|
probably null |
Het |
| Mmrn2 |
T |
G |
14: 34,118,587 (GRCm39) |
F158V |
probably benign |
Het |
| Mug1 |
G |
A |
6: 121,817,029 (GRCm39) |
V33M |
possibly damaging |
Het |
| Myom1 |
T |
C |
17: 71,341,648 (GRCm39) |
S136P |
probably damaging |
Het |
| Nadk |
A |
G |
4: 155,671,817 (GRCm39) |
N232S |
possibly damaging |
Het |
| Or6c217 |
A |
G |
10: 129,737,809 (GRCm39) |
Y257H |
possibly damaging |
Het |
| Or7g27 |
A |
G |
9: 19,250,034 (GRCm39) |
T93A |
probably benign |
Het |
| Pcnx2 |
A |
G |
8: 126,617,797 (GRCm39) |
S153P |
probably damaging |
Het |
| Pde8b |
T |
C |
13: 95,170,767 (GRCm39) |
D633G |
probably damaging |
Het |
| Pik3ap1 |
G |
A |
19: 41,364,500 (GRCm39) |
A73V |
probably benign |
Het |
| Plrg1 |
C |
A |
3: 82,978,547 (GRCm39) |
Q438K |
probably damaging |
Het |
| Plxna4 |
A |
G |
6: 32,493,972 (GRCm39) |
Y215H |
probably damaging |
Het |
| Rapsn |
A |
T |
2: 90,867,169 (GRCm39) |
D157V |
probably damaging |
Het |
| Rock1 |
G |
A |
18: 10,072,863 (GRCm39) |
Q1161* |
probably null |
Het |
| Snrnp200 |
T |
C |
2: 127,073,697 (GRCm39) |
L1365P |
probably damaging |
Het |
| Srcap |
T |
C |
7: 127,138,237 (GRCm39) |
S1136P |
probably damaging |
Het |
| Trim80 |
A |
G |
11: 115,338,849 (GRCm39) |
T560A |
possibly damaging |
Het |
| Ttll2 |
T |
C |
17: 7,620,098 (GRCm39) |
|
probably null |
Het |
| Usp8 |
A |
T |
2: 126,600,075 (GRCm39) |
Q998L |
probably damaging |
Het |
| Vpreb3 |
C |
T |
10: 75,779,056 (GRCm39) |
|
probably benign |
Het |
| Zfp82 |
G |
A |
7: 29,755,864 (GRCm39) |
T406I |
probably damaging |
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 |
|
|
IGL02182:Cpz
|
APN |
5 |
35,675,066 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GTAGGAAGACTGCTCTCTGCTTG -3'
(R):5'- GAACTGTAGTGGCTGGACAG -3'
Sequencing Primer
(F):5'- CATCTCCTGGATGTGAGGGAAGC -3'
(R):5'- AGTGGCTGGACAGGAGTTC -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation