Incidental Mutation 'R4238:Cpz'
ID |
321203 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cpz
|
Ensembl Gene |
ENSMUSG00000036596 |
Gene Name |
carboxypeptidase Z |
Synonyms |
|
MMRRC Submission |
041055-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.633)
|
Stock # |
R4238 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
35659562-35682970 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 35659818 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 609
(D609G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000039804
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038676]
|
AlphaFold |
Q8R4V4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000038676
AA Change: D609G
PolyPhen 2
Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000039804 Gene: ENSMUSG00000036596 AA Change: D609G
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 |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 96.0%
|
Validation Efficiency |
100% (42/42) |
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: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4833420G17Rik |
C |
T |
13: 119,603,478 (GRCm39) |
P93S |
probably benign |
Het |
4930563M21Rik |
T |
C |
9: 55,888,126 (GRCm39) |
D397G |
probably benign |
Het |
Aar2 |
A |
G |
2: 156,393,064 (GRCm39) |
E151G |
possibly damaging |
Het |
Cacna2d4 |
A |
G |
6: 119,217,669 (GRCm39) |
D125G |
probably null |
Het |
Cdc20 |
C |
T |
4: 118,290,257 (GRCm39) |
R468Q |
probably damaging |
Het |
Cers3 |
T |
C |
7: 66,423,424 (GRCm39) |
F87S |
probably damaging |
Het |
Cfap74 |
C |
A |
4: 155,547,529 (GRCm39) |
H1238Q |
probably benign |
Het |
Cndp1 |
G |
T |
18: 84,636,342 (GRCm39) |
H391N |
probably benign |
Het |
Dpp8 |
A |
G |
9: 64,962,205 (GRCm39) |
D415G |
probably benign |
Het |
Erbb2 |
A |
G |
11: 98,318,869 (GRCm39) |
K549R |
probably benign |
Het |
Fam186a |
T |
C |
15: 99,841,523 (GRCm39) |
I1574V |
probably benign |
Het |
Gm6871 |
G |
T |
7: 41,195,204 (GRCm39) |
T511K |
probably damaging |
Het |
Gpr158 |
G |
T |
2: 21,373,362 (GRCm39) |
C99F |
probably damaging |
Het |
Gtf2h1 |
C |
T |
7: 46,454,489 (GRCm39) |
A157V |
probably benign |
Het |
Hexb |
T |
C |
13: 97,313,259 (GRCm39) |
|
probably benign |
Het |
Ighv3-4 |
A |
T |
12: 114,217,533 (GRCm39) |
D19E |
probably benign |
Het |
Igkv12-44 |
A |
G |
6: 69,791,868 (GRCm39) |
S32P |
probably benign |
Het |
Klk6 |
A |
G |
7: 43,478,597 (GRCm39) |
H168R |
probably benign |
Het |
Lin54 |
G |
A |
5: 100,623,603 (GRCm39) |
S78L |
possibly damaging |
Het |
Lzts1 |
G |
T |
8: 69,588,579 (GRCm39) |
A459E |
possibly damaging |
Het |
Mlf1 |
G |
A |
3: 67,291,910 (GRCm39) |
S25N |
probably benign |
Het |
Mrgprx2 |
C |
A |
7: 48,132,738 (GRCm39) |
V27L |
probably benign |
Het |
Myof |
T |
A |
19: 37,911,456 (GRCm39) |
R1505* |
probably null |
Het |
Or4k15 |
T |
C |
14: 50,364,889 (GRCm39) |
V285A |
probably benign |
Het |
Otud7a |
A |
G |
7: 63,300,702 (GRCm39) |
D47G |
probably damaging |
Het |
Phactr1 |
T |
A |
13: 43,248,363 (GRCm39) |
N437K |
possibly damaging |
Het |
Polq |
G |
T |
16: 36,833,543 (GRCm39) |
V79F |
probably damaging |
Het |
Prc1 |
G |
A |
7: 79,960,964 (GRCm39) |
|
probably benign |
Het |
Psg20 |
A |
T |
7: 18,418,434 (GRCm39) |
V111D |
probably damaging |
Het |
Scamp3 |
G |
A |
3: 89,089,234 (GRCm39) |
|
probably null |
Het |
Simc1 |
C |
G |
13: 54,674,073 (GRCm39) |
S807* |
probably null |
Het |
Slc14a2 |
G |
A |
18: 78,250,283 (GRCm39) |
R62C |
probably damaging |
Het |
Snrpa |
A |
T |
7: 26,892,293 (GRCm39) |
|
probably null |
Het |
Sval2 |
T |
A |
6: 41,837,283 (GRCm39) |
L4H |
probably damaging |
Het |
Tax1bp1 |
C |
T |
6: 52,743,036 (GRCm39) |
Q808* |
probably null |
Het |
Tnfrsf11a |
T |
C |
1: 105,754,962 (GRCm39) |
Y345H |
probably damaging |
Het |
Trpa1 |
A |
G |
1: 14,954,340 (GRCm39) |
L853P |
probably damaging |
Het |
Trpm3 |
A |
G |
19: 22,956,002 (GRCm39) |
R1155G |
probably damaging |
Het |
Ube4a |
T |
C |
9: 44,851,297 (GRCm39) |
E739G |
probably damaging |
Het |
Zfp433 |
A |
C |
10: 81,556,046 (GRCm39) |
T182P |
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 |
R2892:Cpz
|
UTSW |
5 |
35,668,473 (GRCm39) |
missense |
probably damaging |
1.00 |
R3795:Cpz
|
UTSW |
5 |
35,669,093 (GRCm39) |
missense |
probably benign |
|
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'- AGCTTCAGAGGCTGTGTATG -3'
(R):5'- TCCCATATCGTCATTGCTCAGG -3'
Sequencing Primer
(F):5'- CAGGCTGTGGAGGTGGACATC -3'
(R):5'- GCCCCTGGCTATTCCAAG -3'
|
Posted On |
2015-06-12 |