Incidental Mutation 'R7620:Cpz'
ID |
589096 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cpz
|
Ensembl Gene |
ENSMUSG00000036596 |
Gene Name |
carboxypeptidase Z |
Synonyms |
|
MMRRC Submission |
045687-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.633)
|
Stock # |
R7620 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
35659562-35682970 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 35669194 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 312
(N312K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000039804
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038676]
|
AlphaFold |
Q8R4V4 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000038676
AA Change: N312K
PolyPhen 2
Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000039804 Gene: ENSMUSG00000036596 AA Change: N312K
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: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
Validation Efficiency |
98% (43/44) |
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: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adnp2 |
T |
C |
18: 80,173,702 (GRCm39) |
T236A |
probably damaging |
Het |
Alkbh7 |
A |
G |
17: 57,304,551 (GRCm39) |
Y63C |
probably damaging |
Het |
Calhm6 |
A |
T |
10: 34,003,614 (GRCm39) |
C98S |
probably damaging |
Het |
Ccr9 |
T |
A |
9: 123,608,911 (GRCm39) |
C198S |
probably damaging |
Het |
Chil3 |
T |
A |
3: 106,067,751 (GRCm39) |
D138V |
probably damaging |
Het |
Cntd1 |
A |
T |
11: 101,174,240 (GRCm39) |
E66D |
probably benign |
Het |
Crat |
A |
G |
2: 30,298,090 (GRCm39) |
I203T |
probably damaging |
Het |
Cyp2j13 |
T |
A |
4: 95,944,899 (GRCm39) |
H410L |
probably benign |
Het |
Cyp39a1 |
G |
A |
17: 44,036,544 (GRCm39) |
|
probably null |
Het |
Dnah1 |
A |
T |
14: 31,025,863 (GRCm39) |
I828N |
possibly damaging |
Het |
Dnah7b |
A |
G |
1: 46,307,794 (GRCm39) |
D3036G |
probably damaging |
Het |
Dnpep |
A |
G |
1: 75,290,092 (GRCm39) |
V295A |
probably benign |
Het |
Efcab3 |
T |
A |
11: 104,722,969 (GRCm39) |
S1942T |
possibly damaging |
Het |
Fam111a |
A |
G |
19: 12,565,301 (GRCm39) |
D394G |
possibly damaging |
Het |
Fat1 |
A |
G |
8: 45,462,887 (GRCm39) |
K1235E |
possibly damaging |
Het |
Gabre |
C |
A |
X: 71,313,865 (GRCm39) |
Q311H |
unknown |
Het |
Garem1 |
T |
C |
18: 21,262,898 (GRCm39) |
S639G |
probably benign |
Het |
Gsdma |
A |
G |
11: 98,557,429 (GRCm39) |
T123A |
probably benign |
Het |
Iqcb1 |
A |
G |
16: 36,676,772 (GRCm39) |
N369S |
probably benign |
Het |
Lepr |
G |
T |
4: 101,609,270 (GRCm39) |
V286F |
probably benign |
Het |
Lgsn |
T |
C |
1: 31,242,461 (GRCm39) |
M181T |
probably benign |
Het |
Mapk15 |
T |
G |
15: 75,870,697 (GRCm39) |
S512A |
probably benign |
Het |
Mcm3ap |
A |
G |
10: 76,306,267 (GRCm39) |
T127A |
probably benign |
Het |
Msto1 |
A |
G |
3: 88,818,614 (GRCm39) |
F315L |
possibly damaging |
Het |
Myo5a |
T |
A |
9: 75,071,418 (GRCm39) |
D673E |
probably benign |
Het |
Nup88 |
G |
C |
11: 70,860,605 (GRCm39) |
P58R |
probably benign |
Het |
Or4x12-ps1 |
A |
C |
2: 89,915,977 (GRCm39) |
I276R |
probably damaging |
Het |
Or52e15 |
C |
A |
7: 104,645,962 (GRCm39) |
V50L |
possibly damaging |
Het |
Pierce1 |
TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC |
TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC |
2: 28,356,122 (GRCm39) |
|
probably benign |
Het |
Ppp1r18 |
T |
C |
17: 36,178,191 (GRCm39) |
V22A |
probably benign |
Het |
Psme1 |
T |
A |
14: 55,817,797 (GRCm39) |
C101* |
probably null |
Het |
Rapgef4 |
G |
T |
2: 72,059,422 (GRCm39) |
C743F |
probably damaging |
Het |
Rictor |
C |
T |
15: 6,801,635 (GRCm39) |
S441L |
probably benign |
Het |
Rnmt |
T |
A |
18: 68,447,105 (GRCm39) |
Y330N |
probably damaging |
Het |
Skint10 |
T |
A |
4: 112,573,014 (GRCm39) |
M261L |
possibly damaging |
Het |
Slc35b1 |
T |
C |
11: 95,278,691 (GRCm39) |
Y192H |
probably damaging |
Het |
Socs3 |
A |
G |
11: 117,858,396 (GRCm39) |
Y221H |
probably damaging |
Het |
Spink12 |
A |
G |
18: 44,237,684 (GRCm39) |
|
probably benign |
Het |
Sspo |
T |
C |
6: 48,444,020 (GRCm39) |
|
probably null |
Het |
Trp73 |
G |
A |
4: 154,143,714 (GRCm39) |
Q551* |
probably null |
Het |
Vmn2r45 |
C |
T |
7: 8,486,222 (GRCm39) |
W355* |
probably null |
Het |
Wdr35 |
A |
G |
12: 9,066,042 (GRCm39) |
I678V |
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 |
|
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 |
|
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 |
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'- CTTACAGGTCAAATACTGAGGCTC -3'
(R):5'- AGACCATGATGCTAGGGGTG -3'
Sequencing Primer
(F):5'- TCAGCAGGGCCAGTTCC -3'
(R):5'- CCATGATGCTAGGGGTGAGAGAAAG -3'
|
Posted On |
2019-10-24 |