Incidental Mutation 'R2866:Cpz'
ID |
253226 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cpz
|
Ensembl Gene |
ENSMUSG00000036596 |
Gene Name |
carboxypeptidase Z |
Synonyms |
|
MMRRC Submission |
040455-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.633)
|
Stock # |
R2866 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
35659562-35682970 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 35659705 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Glutamic Acid
at position 647
(K647E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000039804
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038676]
|
AlphaFold |
Q8R4V4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000038676
AA Change: K647E
PolyPhen 2
Score 0.095 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000039804 Gene: ENSMUSG00000036596 AA Change: K647E
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: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Atmin |
T |
A |
8: 117,683,112 (GRCm39) |
D257E |
probably benign |
Het |
Best1 |
T |
C |
19: 9,963,585 (GRCm39) |
E532G |
probably benign |
Het |
Cenpj |
T |
C |
14: 56,789,637 (GRCm39) |
H804R |
probably benign |
Het |
Clec2g |
T |
C |
6: 128,925,719 (GRCm39) |
S43P |
probably benign |
Het |
Col8a2 |
A |
G |
4: 126,204,992 (GRCm39) |
|
probably benign |
Het |
Csmd2 |
T |
C |
4: 128,308,185 (GRCm39) |
|
probably null |
Het |
Ctss |
A |
G |
3: 95,452,717 (GRCm39) |
K166R |
probably benign |
Het |
Cyp2c23 |
T |
C |
19: 43,993,885 (GRCm39) |
R494G |
probably damaging |
Het |
Cyp2c68 |
A |
G |
19: 39,677,589 (GRCm39) |
I467T |
probably damaging |
Het |
Dcaf11 |
A |
T |
14: 55,803,202 (GRCm39) |
T299S |
possibly damaging |
Het |
Dennd1b |
A |
G |
1: 139,098,019 (GRCm39) |
S762G |
possibly damaging |
Het |
Epb42 |
C |
T |
2: 120,856,402 (GRCm39) |
A381T |
possibly damaging |
Het |
Fhad1 |
A |
G |
4: 141,648,099 (GRCm39) |
Y256H |
probably benign |
Het |
Gfra1 |
C |
T |
19: 58,227,739 (GRCm39) |
A395T |
possibly damaging |
Het |
Gm10323 |
C |
A |
13: 67,002,574 (GRCm39) |
C55F |
probably benign |
Het |
Greb1 |
T |
C |
12: 16,749,551 (GRCm39) |
S1092G |
probably damaging |
Het |
Grid1 |
A |
T |
14: 35,284,516 (GRCm39) |
D753V |
probably damaging |
Het |
Grin2b |
A |
G |
6: 135,710,637 (GRCm39) |
F970L |
probably damaging |
Het |
Kcnma1 |
A |
T |
14: 23,423,275 (GRCm39) |
N682K |
probably benign |
Het |
Lat2 |
T |
A |
5: 134,634,798 (GRCm39) |
D114V |
probably damaging |
Het |
Lcat |
C |
T |
8: 106,666,511 (GRCm39) |
C337Y |
probably damaging |
Het |
Mapk10 |
C |
T |
5: 103,186,548 (GRCm39) |
D25N |
probably benign |
Het |
Mroh7 |
C |
T |
4: 106,548,287 (GRCm39) |
G1064R |
probably damaging |
Het |
Muc21 |
T |
C |
17: 35,930,599 (GRCm39) |
|
probably benign |
Het |
Or10h5 |
T |
A |
17: 33,435,252 (GRCm39) |
H22L |
probably benign |
Het |
Or51ah3 |
A |
T |
7: 103,210,064 (GRCm39) |
I127F |
probably damaging |
Het |
Or5p5 |
T |
A |
7: 107,414,126 (GRCm39) |
C112S |
probably benign |
Het |
Or8k39 |
A |
T |
2: 86,563,773 (GRCm39) |
F61Y |
possibly damaging |
Het |
Polr1has |
A |
T |
17: 37,276,052 (GRCm39) |
R211S |
possibly damaging |
Het |
Psg27 |
T |
A |
7: 18,295,818 (GRCm39) |
D209V |
probably benign |
Het |
Ptgir |
A |
G |
7: 16,640,794 (GRCm39) |
M29V |
possibly damaging |
Het |
Pzp |
A |
G |
6: 128,502,227 (GRCm39) |
S41P |
possibly damaging |
Het |
Rab23 |
A |
T |
1: 33,777,376 (GRCm39) |
K163N |
possibly damaging |
Het |
Rilpl2 |
T |
C |
5: 124,615,898 (GRCm39) |
D84G |
probably damaging |
Het |
Sorl1 |
A |
G |
9: 41,881,077 (GRCm39) |
I2148T |
probably benign |
Het |
Tead1 |
A |
G |
7: 112,358,694 (GRCm39) |
E2G |
probably damaging |
Het |
Tigd4 |
A |
G |
3: 84,501,259 (GRCm39) |
N59D |
possibly damaging |
Het |
Tmprss15 |
T |
A |
16: 78,832,121 (GRCm39) |
D345V |
possibly damaging |
Het |
Togaram2 |
T |
C |
17: 72,016,592 (GRCm39) |
S649P |
probably benign |
Het |
Ucp2 |
T |
C |
7: 100,146,459 (GRCm39) |
V95A |
probably benign |
Het |
Usp17lb |
T |
C |
7: 104,489,955 (GRCm39) |
D323G |
probably damaging |
Het |
Zfp677 |
A |
T |
17: 21,617,518 (GRCm39) |
K192* |
probably null |
Het |
Zmym2 |
T |
A |
14: 57,165,705 (GRCm39) |
I676K |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- TCTGCACAGAGCCTTTCATC -3'
(R):5'- AGAGTCACCATTCCCTTGCG -3'
Sequencing Primer
(F):5'- AGAGCCTTTCATCACAGTGG -3'
(R):5'- TTCCCTTGCGCATGAAGAAG -3'
|
Posted On |
2014-12-04 |