Incidental Mutation 'R6757:Cpm'
| ID |
531095 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cpm
|
| Ensembl Gene |
ENSMUSG00000020183 |
| Gene Name |
carboxypeptidase M |
| Synonyms |
1110060I01Rik, 5730456K23Rik |
| MMRRC Submission |
044873-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.094)
|
| Stock # |
R6757 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
117465405-117523257 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 117507543 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 220
(D220G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020399
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020399]
|
| AlphaFold |
Q80V42 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000020399
AA Change: D220G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000020399
Gene: ENSMUSG00000020183
AA Change: D220G
| 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: ENSMUST00000141991
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.4%
- 20x: 95.6%
|
| 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: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A830018L16Rik |
A |
T |
1: 11,666,558 (GRCm39) |
*288Y |
probably null |
Het |
| Art2a |
G |
T |
7: 101,204,221 (GRCm39) |
L106I |
probably benign |
Het |
| Bmi1 |
C |
T |
2: 18,688,840 (GRCm39) |
T203M |
probably damaging |
Het |
| Cyp2a22 |
A |
C |
7: 26,638,629 (GRCm39) |
D52E |
probably benign |
Het |
| Dag1 |
A |
C |
9: 108,095,216 (GRCm39) |
I92S |
probably damaging |
Het |
| Dntt |
A |
T |
19: 41,025,601 (GRCm39) |
H73L |
probably damaging |
Het |
| Epha5 |
A |
C |
5: 84,253,737 (GRCm39) |
I716S |
probably damaging |
Het |
| Fpr-rs4 |
C |
T |
17: 18,242,394 (GRCm39) |
Q134* |
probably null |
Het |
| Fzd8 |
T |
A |
18: 9,213,238 (GRCm39) |
C107S |
possibly damaging |
Het |
| Garre1 |
G |
A |
7: 33,938,502 (GRCm39) |
A799V |
possibly damaging |
Het |
| Gnptab |
T |
C |
10: 88,273,364 (GRCm39) |
L1047P |
probably damaging |
Het |
| Gstt1 |
A |
T |
10: 75,634,217 (GRCm39) |
|
probably null |
Het |
| Kdm2a |
T |
C |
19: 4,369,271 (GRCm39) |
R1115G |
probably damaging |
Het |
| Myl10 |
G |
C |
5: 136,726,825 (GRCm39) |
V70L |
probably benign |
Het |
| Myo1b |
C |
T |
1: 51,852,207 (GRCm39) |
E179K |
probably damaging |
Het |
| Nrp1 |
T |
A |
8: 129,152,349 (GRCm39) |
I186N |
probably damaging |
Het |
| Or10g3 |
A |
G |
14: 52,610,172 (GRCm39) |
C113R |
probably damaging |
Het |
| Pole |
T |
C |
5: 110,451,476 (GRCm39) |
V835A |
probably damaging |
Het |
| Shprh |
A |
G |
10: 11,057,252 (GRCm39) |
|
probably null |
Het |
| Slc39a14 |
A |
T |
14: 70,548,333 (GRCm39) |
L238Q |
probably damaging |
Het |
| Spata31e5 |
A |
C |
1: 28,819,191 (GRCm39) |
I30S |
probably damaging |
Het |
| Usp40 |
A |
T |
1: 87,907,759 (GRCm39) |
I619N |
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 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CAAGCATGGTAAAGAGTTCCCTTC -3'
(R):5'- TGGTGCTTCCAGTGTAGGAAC -3'
Sequencing Primer
(F):5'- GCATGGTAAAGAGTTCCCTTCATTTC -3'
(R):5'- AATCCCGTTGGGGAAGTT -3'
|
| Posted On |
2018-08-01 |
Incidental Mutation