Incidental Mutation 'IGL01400:Cpm'
| ID |
79621 |
| 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: 0.072)
|
| Stock # |
IGL01400
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
117465405-117523257 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 117495680 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 56
(N56K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020399
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020399]
|
| AlphaFold |
Q80V42 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020399
AA Change: N56K
PolyPhen 2
Score 0.250 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000020399
Gene: ENSMUSG00000020183
AA Change: N56K
| 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: ENSMUST00000123374
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000178844
|
| 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 |
|---|
| A930011G23Rik |
A |
T |
5: 99,390,960 (GRCm39) |
I133N |
probably damaging |
Het |
| Abl2 |
T |
G |
1: 156,462,754 (GRCm39) |
C510G |
probably damaging |
Het |
| Ambp |
T |
C |
4: 63,070,959 (GRCm39) |
Y40C |
probably damaging |
Het |
| Apol11b |
G |
A |
15: 77,522,219 (GRCm39) |
T26M |
probably damaging |
Het |
| Arfgef3 |
G |
A |
10: 18,528,454 (GRCm39) |
A311V |
probably damaging |
Het |
| Cass4 |
A |
G |
2: 172,269,220 (GRCm39) |
D434G |
probably damaging |
Het |
| Cep250 |
A |
C |
2: 155,840,211 (GRCm39) |
T2390P |
possibly damaging |
Het |
| Cspp1 |
T |
C |
1: 10,156,156 (GRCm39) |
L455P |
probably damaging |
Het |
| Dcx |
T |
C |
X: 142,714,150 (GRCm39) |
K51E |
possibly damaging |
Het |
| Ehd3 |
T |
C |
17: 74,135,089 (GRCm39) |
F322L |
probably benign |
Het |
| Ell |
A |
G |
8: 71,031,563 (GRCm39) |
D87G |
probably damaging |
Het |
| Epor |
C |
T |
9: 21,870,735 (GRCm39) |
|
probably null |
Het |
| Exosc10 |
T |
G |
4: 148,649,728 (GRCm39) |
M386R |
probably damaging |
Het |
| Gpr152 |
T |
C |
19: 4,193,626 (GRCm39) |
I389T |
probably benign |
Het |
| Gvin3 |
T |
A |
7: 106,201,242 (GRCm39) |
E667D |
probably benign |
Het |
| Kmo |
T |
A |
1: 175,482,661 (GRCm39) |
D328E |
possibly damaging |
Het |
| Llgl1 |
A |
G |
11: 60,597,316 (GRCm39) |
H255R |
probably damaging |
Het |
| Lrch3 |
T |
A |
16: 32,799,911 (GRCm39) |
H416Q |
probably damaging |
Het |
| Malrd1 |
G |
A |
2: 16,106,768 (GRCm39) |
|
probably null |
Het |
| Mdm1 |
T |
G |
10: 117,993,156 (GRCm39) |
H320Q |
probably damaging |
Het |
| Nol4 |
T |
A |
18: 22,956,555 (GRCm39) |
H209L |
probably damaging |
Het |
| Or5p58 |
A |
T |
7: 107,694,046 (GRCm39) |
C244S |
probably damaging |
Het |
| Pcdhac2 |
T |
C |
18: 37,279,339 (GRCm39) |
V773A |
possibly damaging |
Het |
| Pde3a |
A |
G |
6: 141,404,954 (GRCm39) |
N393S |
probably benign |
Het |
| Pik3r5 |
A |
G |
11: 68,385,373 (GRCm39) |
K700R |
probably benign |
Het |
| Prob1 |
G |
A |
18: 35,786,386 (GRCm39) |
R623C |
possibly damaging |
Het |
| Slc14a2 |
T |
C |
18: 78,235,428 (GRCm39) |
N112D |
probably damaging |
Het |
| Snapc3 |
C |
T |
4: 83,368,414 (GRCm39) |
P304S |
probably damaging |
Het |
| Spin2c |
T |
A |
X: 152,616,621 (GRCm39) |
W145R |
probably damaging |
Het |
| Tmem131l |
T |
C |
3: 83,829,429 (GRCm39) |
E1075G |
probably damaging |
Het |
| Trip12 |
C |
T |
1: 84,729,699 (GRCm39) |
R995Q |
probably damaging |
Het |
| Trpm6 |
T |
A |
19: 18,803,158 (GRCm39) |
L867* |
probably null |
Het |
| Vmn1r87 |
T |
G |
7: 12,866,230 (GRCm39) |
H19P |
probably damaging |
Het |
| Vps16 |
A |
G |
2: 130,280,273 (GRCm39) |
E139G |
possibly 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 |
|
IGL02655:Cpm
|
APN |
10 |
117,519,186 (GRCm39) |
missense |
probably benign |
0.01 |
|
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 |
2013-11-05 |
Incidental Mutation