Incidental Mutation 'R0416:Cpd'
| ID |
40334 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cpd
|
| Ensembl Gene |
ENSMUSG00000020841 |
| Gene Name |
carboxypeptidase D |
| Synonyms |
D830034L15Rik |
| MMRRC Submission |
038618-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.922)
|
| Stock # |
R0416 (G1)
|
| Quality Score |
204 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
76669250-76737844 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 76676030 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 1208
(V1208I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021201
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021201]
|
| AlphaFold |
O89001 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021201
AA Change: V1208I
PolyPhen 2
Score 0.132 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000021201
Gene: ENSMUSG00000020841
AA Change: V1208I
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
37 |
N/A |
INTRINSIC |
|
Zn_pept
|
62 |
471 |
1.71e-52 |
SMART |
|
Zn_pept
|
502 |
900 |
2.11e-66 |
SMART |
|
Zn_pept
|
930 |
1195 |
1.11e-42 |
SMART |
|
Pfam:CarboxypepD_reg
|
1211 |
1284 |
3.6e-10 |
PFAM |
|
transmembrane domain
|
1297 |
1319 |
N/A |
INTRINSIC |
|
low complexity region
|
1363 |
1371 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151584
|
| Meta Mutation Damage Score |
0.0920 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.2%
- 20x: 91.8%
|
| Validation Efficiency |
99% (74/75) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The metallocarboxypeptidase family of enzymes is divided into 2 subfamilies based on sequence similarities. The pancreatic carboxypeptidase-like and the regulatory B-type carboxypeptidase subfamilies. Carboxypeptidase D has been identified as a regulatory B-type carboxypeptidase. CPD is a homolog of duck gp180, a hepatitis B virus-binding protein. Transcript variants utilizing alternative polyadenylation signals exist for this gene. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsm2 |
A |
G |
7: 119,162,779 (GRCm39) |
I18V |
probably benign |
Het |
| Adamdec1 |
T |
G |
14: 68,806,161 (GRCm39) |
E438A |
possibly damaging |
Het |
| Adamts17 |
A |
G |
7: 66,565,646 (GRCm39) |
|
probably null |
Het |
| Ankrd44 |
T |
G |
1: 54,782,498 (GRCm39) |
I359L |
possibly damaging |
Het |
| Ap2s1 |
C |
A |
7: 16,481,290 (GRCm39) |
N86K |
probably damaging |
Het |
| Arih1 |
T |
A |
9: 59,333,993 (GRCm39) |
|
probably benign |
Het |
| Astn1 |
T |
A |
1: 158,337,461 (GRCm39) |
I389N |
probably damaging |
Het |
| Brca2 |
T |
C |
5: 150,492,857 (GRCm39) |
S3291P |
possibly damaging |
Het |
| Cacna1d |
T |
C |
14: 29,822,645 (GRCm39) |
|
probably benign |
Het |
| Ccl7 |
C |
A |
11: 81,936,692 (GRCm39) |
|
probably benign |
Het |
| Cd74 |
A |
T |
18: 60,944,486 (GRCm39) |
Y232F |
possibly damaging |
Het |
| Cep128 |
A |
G |
12: 91,197,641 (GRCm39) |
|
probably benign |
Het |
| Cep89 |
T |
A |
7: 35,115,827 (GRCm39) |
|
probably benign |
Het |
| Cmya5 |
T |
G |
13: 93,226,364 (GRCm39) |
N2908T |
probably benign |
Het |
| Coil |
T |
C |
11: 88,872,812 (GRCm39) |
L391S |
possibly damaging |
Het |
| Ddx19a |
T |
C |
8: 111,705,689 (GRCm39) |
D254G |
probably damaging |
Het |
| Desi2 |
T |
A |
1: 178,083,887 (GRCm39) |
|
probably benign |
Het |
| Dnah11 |
A |
T |
12: 117,874,793 (GRCm39) |
M4024K |
probably damaging |
Het |
| Ergic2 |
A |
T |
6: 148,084,642 (GRCm39) |
L53H |
probably damaging |
Het |
| Etv2 |
T |
C |
7: 30,334,058 (GRCm39) |
Y225C |
probably benign |
Het |
| F10 |
G |
A |
8: 13,105,448 (GRCm39) |
A338T |
probably damaging |
Het |
| Fam228b |
T |
A |
12: 4,812,382 (GRCm39) |
D132V |
probably damaging |
Het |
| Fat2 |
T |
A |
11: 55,174,960 (GRCm39) |
I1918F |
possibly damaging |
Het |
| Fbxw5 |
C |
T |
2: 25,393,251 (GRCm39) |
S214F |
probably damaging |
Het |
| Glyat |
G |
A |
19: 12,628,817 (GRCm39) |
R204Q |
possibly damaging |
Het |
| Gm4825 |
T |
C |
15: 85,395,182 (GRCm39) |
|
noncoding transcript |
Het |
| Ino80d |
G |
T |
1: 63,125,435 (GRCm39) |
T9K |
possibly damaging |
Het |
| Lifr |
A |
T |
15: 7,196,395 (GRCm39) |
D193V |
probably damaging |
Het |
| Lrp12 |
G |
T |
15: 39,742,307 (GRCm39) |
|
probably benign |
Het |
| Lrp3 |
A |
G |
7: 34,901,778 (GRCm39) |
V701A |
probably benign |
Het |
| Mfsd11 |
T |
A |
11: 116,756,708 (GRCm39) |
|
probably benign |
Het |
| Mrto4 |
A |
T |
4: 139,077,043 (GRCm39) |
|
probably null |
Het |
| Msi1 |
T |
C |
5: 115,568,708 (GRCm39) |
F43L |
possibly damaging |
Het |
| Mthfsd |
T |
C |
8: 121,827,976 (GRCm39) |
D168G |
probably damaging |
Het |
| Myo15a |
T |
A |
11: 60,402,000 (GRCm39) |
V3099E |
probably damaging |
Het |
| Myrf |
T |
C |
19: 10,193,176 (GRCm39) |
|
probably null |
Het |
| Nadk |
C |
A |
4: 155,672,256 (GRCm39) |
|
probably benign |
Het |
| Nav1 |
T |
C |
1: 135,398,864 (GRCm39) |
K573E |
possibly damaging |
Het |
| Ndufs3 |
A |
G |
2: 90,728,732 (GRCm39) |
V207A |
probably damaging |
Het |
| Nlrp3 |
T |
C |
11: 59,446,750 (GRCm39) |
|
probably benign |
Het |
| Nlrx1 |
T |
G |
9: 44,174,211 (GRCm39) |
D330A |
probably benign |
Het |
| Or2a56 |
G |
A |
6: 42,932,504 (GRCm39) |
C24Y |
probably benign |
Het |
| Or2t49 |
T |
C |
11: 58,393,222 (GRCm39) |
I53M |
unknown |
Het |
| Osbpl3 |
C |
T |
6: 50,324,998 (GRCm39) |
V167I |
probably benign |
Het |
| Pcnx1 |
A |
T |
12: 82,021,240 (GRCm39) |
I1410F |
probably benign |
Het |
| Piezo2 |
G |
A |
18: 63,157,562 (GRCm39) |
R2383C |
probably damaging |
Het |
| Pip5kl1 |
A |
T |
2: 32,473,436 (GRCm39) |
K358* |
probably null |
Het |
| Polg |
T |
C |
7: 79,101,988 (GRCm39) |
|
probably benign |
Het |
| Prr14l |
T |
A |
5: 32,986,061 (GRCm39) |
I1145F |
probably benign |
Het |
| Psmb1 |
C |
T |
17: 15,714,781 (GRCm39) |
V39I |
probably benign |
Het |
| Ptk6 |
T |
C |
2: 180,844,101 (GRCm39) |
Y66C |
possibly damaging |
Het |
| Robo4 |
T |
C |
9: 37,316,062 (GRCm39) |
|
probably benign |
Het |
| Sdk2 |
A |
G |
11: 113,694,029 (GRCm39) |
Y1801H |
probably damaging |
Het |
| Serpinb3a |
C |
A |
1: 106,977,116 (GRCm39) |
A95S |
probably benign |
Het |
| Setd1a |
CTGGTGGTGGTGGTGGTGGTAGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG |
CTGGTGGTGGTGGTGGTAGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG |
7: 127,384,469 (GRCm39) |
|
probably benign |
Het |
| Sik2 |
A |
T |
9: 50,906,932 (GRCm39) |
Y98N |
probably damaging |
Het |
| Slc30a1 |
C |
T |
1: 191,641,838 (GRCm39) |
P495S |
probably benign |
Het |
| Smg1 |
A |
T |
7: 117,783,684 (GRCm39) |
|
probably benign |
Het |
| Stk3 |
T |
A |
15: 35,114,778 (GRCm39) |
I45L |
probably benign |
Het |
| Tapbp |
A |
G |
17: 34,144,392 (GRCm39) |
T163A |
probably damaging |
Het |
| Tdrd5 |
T |
C |
1: 156,113,051 (GRCm39) |
K410E |
probably damaging |
Het |
| Trim30b |
A |
T |
7: 104,012,973 (GRCm39) |
M152K |
probably benign |
Het |
| Trpm6 |
G |
T |
19: 18,760,389 (GRCm39) |
|
probably benign |
Het |
| Tsc22d1 |
T |
C |
14: 76,742,743 (GRCm39) |
|
probably benign |
Het |
| U2surp |
A |
T |
9: 95,367,660 (GRCm39) |
F444I |
probably damaging |
Het |
| Vmn2r95 |
C |
T |
17: 18,661,664 (GRCm39) |
P470L |
probably damaging |
Het |
| Zc3h4 |
T |
G |
7: 16,154,200 (GRCm39) |
Y163D |
probably damaging |
Het |
| Zfp62 |
A |
T |
11: 49,106,503 (GRCm39) |
H198L |
probably damaging |
Het |
| Zmym1 |
A |
G |
4: 126,952,613 (GRCm39) |
L56P |
probably benign |
Het |
|
| Other mutations in Cpd |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00226:Cpd
|
APN |
11 |
76,688,615 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL00698:Cpd
|
APN |
11 |
76,731,270 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL01025:Cpd
|
APN |
11 |
76,686,439 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01292:Cpd
|
APN |
11 |
76,737,071 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
IGL01571:Cpd
|
APN |
11 |
76,673,122 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01606:Cpd
|
APN |
11 |
76,703,466 (GRCm39) |
missense |
probably benign |
|
|
IGL02283:Cpd
|
APN |
11 |
76,731,251 (GRCm39) |
missense |
probably benign |
0.19 |
|
IGL02895:Cpd
|
APN |
11 |
76,676,029 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL02965:Cpd
|
APN |
11 |
76,681,814 (GRCm39) |
splice site |
probably benign |
|
|
IGL03116:Cpd
|
APN |
11 |
76,702,539 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03178:Cpd
|
APN |
11 |
76,696,877 (GRCm39) |
missense |
probably benign |
0.02 |
|
PIT4280001:Cpd
|
UTSW |
11 |
76,681,850 (GRCm39) |
missense |
probably benign |
0.23 |
|
PIT4382001:Cpd
|
UTSW |
11 |
76,688,614 (GRCm39) |
missense |
probably benign |
|
|
R0050:Cpd
|
UTSW |
11 |
76,683,685 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0054:Cpd
|
UTSW |
11 |
76,681,664 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0054:Cpd
|
UTSW |
11 |
76,681,664 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0320:Cpd
|
UTSW |
11 |
76,731,273 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R0556:Cpd
|
UTSW |
11 |
76,693,171 (GRCm39) |
splice site |
probably benign |
|
|
R0666:Cpd
|
UTSW |
11 |
76,673,153 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0668:Cpd
|
UTSW |
11 |
76,675,224 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1180:Cpd
|
UTSW |
11 |
76,692,579 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R1472:Cpd
|
UTSW |
11 |
76,675,224 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1518:Cpd
|
UTSW |
11 |
76,731,212 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1617:Cpd
|
UTSW |
11 |
76,737,495 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1786:Cpd
|
UTSW |
11 |
76,683,624 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1854:Cpd
|
UTSW |
11 |
76,677,164 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1861:Cpd
|
UTSW |
11 |
76,675,208 (GRCm39) |
splice site |
probably benign |
|
|
R2159:Cpd
|
UTSW |
11 |
76,688,467 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2205:Cpd
|
UTSW |
11 |
76,693,070 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2281:Cpd
|
UTSW |
11 |
76,688,627 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2680:Cpd
|
UTSW |
11 |
76,681,825 (GRCm39) |
missense |
probably benign |
|
|
R2928:Cpd
|
UTSW |
11 |
76,737,200 (GRCm39) |
missense |
probably benign |
|
|
R2937:Cpd
|
UTSW |
11 |
76,702,685 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4133:Cpd
|
UTSW |
11 |
76,705,644 (GRCm39) |
nonsense |
probably null |
|
|
R4241:Cpd
|
UTSW |
11 |
76,737,611 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4369:Cpd
|
UTSW |
11 |
76,688,537 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R4538:Cpd
|
UTSW |
11 |
76,681,825 (GRCm39) |
missense |
probably benign |
|
|
R4551:Cpd
|
UTSW |
11 |
76,702,712 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4617:Cpd
|
UTSW |
11 |
76,731,441 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4732:Cpd
|
UTSW |
11 |
76,702,620 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4733:Cpd
|
UTSW |
11 |
76,702,620 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4821:Cpd
|
UTSW |
11 |
76,737,063 (GRCm39) |
missense |
probably benign |
0.38 |
|
R4852:Cpd
|
UTSW |
11 |
76,675,976 (GRCm39) |
missense |
probably benign |
0.32 |
|
R4901:Cpd
|
UTSW |
11 |
76,681,707 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4988:Cpd
|
UTSW |
11 |
76,705,656 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4999:Cpd
|
UTSW |
11 |
76,737,048 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5005:Cpd
|
UTSW |
11 |
76,704,396 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5092:Cpd
|
UTSW |
11 |
76,702,530 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R5438:Cpd
|
UTSW |
11 |
76,682,792 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R5524:Cpd
|
UTSW |
11 |
76,688,727 (GRCm39) |
nonsense |
probably null |
|
|
R5677:Cpd
|
UTSW |
11 |
76,690,651 (GRCm39) |
missense |
probably benign |
|
|
R5826:Cpd
|
UTSW |
11 |
76,675,242 (GRCm39) |
nonsense |
probably null |
|
|
R6031:Cpd
|
UTSW |
11 |
76,681,714 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6031:Cpd
|
UTSW |
11 |
76,681,714 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6103:Cpd
|
UTSW |
11 |
76,690,625 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6257:Cpd
|
UTSW |
11 |
76,703,496 (GRCm39) |
missense |
probably benign |
0.37 |
|
R6263:Cpd
|
UTSW |
11 |
76,737,097 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6485:Cpd
|
UTSW |
11 |
76,699,533 (GRCm39) |
splice site |
probably null |
|
|
R6671:Cpd
|
UTSW |
11 |
76,686,359 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6995:Cpd
|
UTSW |
11 |
76,675,881 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7074:Cpd
|
UTSW |
11 |
76,704,420 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7192:Cpd
|
UTSW |
11 |
76,705,667 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7341:Cpd
|
UTSW |
11 |
76,737,779 (GRCm39) |
missense |
unknown |
|
|
R7371:Cpd
|
UTSW |
11 |
76,737,437 (GRCm39) |
missense |
probably benign |
0.25 |
|
R7380:Cpd
|
UTSW |
11 |
76,693,151 (GRCm39) |
nonsense |
probably null |
|
|
R7392:Cpd
|
UTSW |
11 |
76,692,605 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7410:Cpd
|
UTSW |
11 |
76,673,134 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7509:Cpd
|
UTSW |
11 |
76,688,702 (GRCm39) |
missense |
probably benign |
0.17 |
|
R7767:Cpd
|
UTSW |
11 |
76,704,385 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8935:Cpd
|
UTSW |
11 |
76,731,295 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9151:Cpd
|
UTSW |
11 |
76,675,275 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R9172:Cpd
|
UTSW |
11 |
76,675,252 (GRCm39) |
missense |
probably benign |
0.21 |
|
R9173:Cpd
|
UTSW |
11 |
76,699,649 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9310:Cpd
|
UTSW |
11 |
76,705,607 (GRCm39) |
nonsense |
probably null |
|
|
R9666:Cpd
|
UTSW |
11 |
76,693,133 (GRCm39) |
missense |
probably benign |
0.02 |
|
Z1088:Cpd
|
UTSW |
11 |
76,692,572 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCACTTACCAAGTCCACCTTGAGTC -3'
(R):5'- TATCTCTGGCACTGTCTCGGAAGC -3'
Sequencing Primer
(F):5'- AAGTCCACCTTGAGTCTCTTAC -3'
(R):5'- actccatctcctacatctacctc -3'
|
| Posted On |
2013-05-23 |
Incidental Mutation