Incidental Mutation 'IGL02655:Cpm'
ID |
302309 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Cpm
|
Ensembl Gene |
ENSMUSG00000020183 |
Gene Name |
carboxypeptidase M |
Synonyms |
1110060I01Rik, 5730456K23Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.094)
|
Stock # |
IGL02655
|
Quality Score |
|
Status
|
|
Chromosome |
10 |
Chromosomal Location |
117465405-117523257 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 117519186 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 365
(T365A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000020399
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020399]
|
AlphaFold |
Q80V42 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000020399
AA Change: T365A
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000020399 Gene: ENSMUSG00000020183 AA Change: T365A
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
Zn_pept
|
22 |
406 |
2.03e-45 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141991
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a membrane-bound arginine/lysine carboxypeptidase. Its expression is associated with monocyte to macrophage differentiation. This encoded protein contains hydrophobic regions at the amino and carboxy termini and has 6 potential asparagine-linked glycosylation sites. The active site residues of carboxypeptidases A and B are conserved in this protein. Three alternatively spliced transcript variants encoding the same protein have been described for this gene. [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 |
4930402F06Rik |
A |
T |
2: 35,270,498 (GRCm39) |
S68T |
possibly damaging |
Het |
4930544G11Rik |
T |
G |
6: 65,930,074 (GRCm39) |
V103G |
probably damaging |
Het |
Adam7 |
A |
T |
14: 68,754,060 (GRCm39) |
D346E |
probably damaging |
Het |
Adamts1 |
A |
G |
16: 85,599,505 (GRCm39) |
S32P |
probably benign |
Het |
Adamtsl2 |
T |
C |
2: 26,972,542 (GRCm39) |
|
probably benign |
Het |
Adgrb2 |
C |
A |
4: 129,885,972 (GRCm39) |
Y37* |
probably null |
Het |
Apba3 |
A |
G |
10: 81,108,788 (GRCm39) |
R547G |
probably benign |
Het |
Ccnd2 |
C |
T |
6: 127,125,733 (GRCm39) |
G101D |
probably damaging |
Het |
Cpt2 |
A |
G |
4: 107,764,624 (GRCm39) |
V380A |
probably damaging |
Het |
Dnah7b |
A |
T |
1: 46,155,461 (GRCm39) |
|
probably benign |
Het |
Enpp1 |
A |
C |
10: 24,553,872 (GRCm39) |
D105E |
probably damaging |
Het |
Ermp1 |
C |
A |
19: 29,623,610 (GRCm39) |
E127* |
probably null |
Het |
Evi5 |
T |
C |
5: 107,961,446 (GRCm39) |
K375R |
probably benign |
Het |
Gm11564 |
A |
T |
11: 99,705,982 (GRCm39) |
C149* |
probably null |
Het |
Golgb1 |
A |
T |
16: 36,738,442 (GRCm39) |
E2260D |
probably damaging |
Het |
Gpc2 |
T |
C |
5: 138,277,187 (GRCm39) |
D80G |
possibly damaging |
Het |
Hsd11b2 |
A |
G |
8: 106,248,960 (GRCm39) |
I151V |
probably benign |
Het |
Knl1 |
T |
C |
2: 118,901,473 (GRCm39) |
I1058T |
possibly damaging |
Het |
Krtap4-8 |
A |
T |
11: 99,671,454 (GRCm39) |
|
probably benign |
Het |
Me1 |
A |
G |
9: 86,536,780 (GRCm39) |
|
probably benign |
Het |
Mki67 |
C |
T |
7: 135,315,748 (GRCm39) |
R38H |
probably damaging |
Het |
Nsmaf |
A |
G |
4: 6,424,933 (GRCm39) |
F272L |
possibly damaging |
Het |
Pcyox1 |
A |
T |
6: 86,366,326 (GRCm39) |
V78E |
probably damaging |
Het |
Pkp1 |
G |
T |
1: 135,817,511 (GRCm39) |
T208N |
probably benign |
Het |
Plagl2 |
T |
C |
2: 153,074,337 (GRCm39) |
E188G |
probably damaging |
Het |
Pramel15 |
A |
G |
4: 144,099,416 (GRCm39) |
F450L |
probably benign |
Het |
Relch |
G |
A |
1: 105,605,971 (GRCm39) |
V204M |
probably damaging |
Het |
Ric1 |
T |
A |
19: 29,572,851 (GRCm39) |
S764T |
probably damaging |
Het |
Sec24a |
G |
A |
11: 51,625,482 (GRCm39) |
T247M |
probably benign |
Het |
Slc25a17 |
C |
T |
15: 81,207,844 (GRCm39) |
R248Q |
probably benign |
Het |
Stk36 |
C |
T |
1: 74,673,694 (GRCm39) |
P1068S |
probably damaging |
Het |
Tcn2 |
C |
A |
11: 3,876,158 (GRCm39) |
S90I |
possibly damaging |
Het |
Tfec |
C |
T |
6: 16,834,308 (GRCm39) |
A200T |
possibly damaging |
Het |
Vmn2r4 |
A |
G |
3: 64,305,886 (GRCm39) |
I512T |
probably damaging |
Het |
|
Other mutations in Cpm |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00924:Cpm
|
APN |
10 |
117,511,971 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01400:Cpm
|
APN |
10 |
117,495,680 (GRCm39) |
missense |
probably benign |
0.25 |
IGL02724:Cpm
|
APN |
10 |
117,465,756 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03144:Cpm
|
APN |
10 |
117,519,319 (GRCm39) |
missense |
probably benign |
0.03 |
R0898:Cpm
|
UTSW |
10 |
117,512,011 (GRCm39) |
splice site |
probably benign |
|
R2179:Cpm
|
UTSW |
10 |
117,519,266 (GRCm39) |
missense |
probably benign |
0.24 |
R2213:Cpm
|
UTSW |
10 |
117,495,744 (GRCm39) |
missense |
probably damaging |
1.00 |
R4622:Cpm
|
UTSW |
10 |
117,506,202 (GRCm39) |
missense |
possibly damaging |
0.91 |
R4623:Cpm
|
UTSW |
10 |
117,506,202 (GRCm39) |
missense |
possibly damaging |
0.91 |
R4658:Cpm
|
UTSW |
10 |
117,503,956 (GRCm39) |
missense |
probably benign |
0.43 |
R4714:Cpm
|
UTSW |
10 |
117,511,890 (GRCm39) |
missense |
probably damaging |
0.97 |
R4991:Cpm
|
UTSW |
10 |
117,504,008 (GRCm39) |
missense |
probably damaging |
1.00 |
R5430:Cpm
|
UTSW |
10 |
117,511,986 (GRCm39) |
missense |
possibly damaging |
0.92 |
R5765:Cpm
|
UTSW |
10 |
117,507,638 (GRCm39) |
missense |
probably benign |
0.09 |
R6757:Cpm
|
UTSW |
10 |
117,507,543 (GRCm39) |
missense |
probably damaging |
1.00 |
R6803:Cpm
|
UTSW |
10 |
117,512,002 (GRCm39) |
splice site |
probably null |
|
R7509:Cpm
|
UTSW |
10 |
117,495,745 (GRCm39) |
missense |
probably damaging |
1.00 |
R7761:Cpm
|
UTSW |
10 |
117,519,340 (GRCm39) |
missense |
possibly damaging |
0.64 |
R8171:Cpm
|
UTSW |
10 |
117,519,220 (GRCm39) |
missense |
probably damaging |
0.96 |
R8472:Cpm
|
UTSW |
10 |
117,515,883 (GRCm39) |
missense |
probably damaging |
1.00 |
R8951:Cpm
|
UTSW |
10 |
117,511,938 (GRCm39) |
missense |
probably damaging |
0.96 |
R9028:Cpm
|
UTSW |
10 |
117,519,414 (GRCm39) |
missense |
probably benign |
0.00 |
R9601:Cpm
|
UTSW |
10 |
117,511,999 (GRCm39) |
critical splice donor site |
probably null |
|
|
Posted On |
2015-04-16 |