Incidental Mutation 'PIT4382001:Cpd'
ID |
554705 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cpd
|
Ensembl Gene |
ENSMUSG00000020841 |
Gene Name |
carboxypeptidase D |
Synonyms |
D830034L15Rik |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.928)
|
Stock # |
PIT4382001 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
76669250-76737844 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 76688614 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Proline
at position 886
(H886P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000021201
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021201]
|
AlphaFold |
O89001 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000021201
AA Change: H886P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000021201 Gene: ENSMUSG00000020841 AA Change: H886P
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 |
|
Coding Region Coverage |
- 1x: 92.9%
- 3x: 90.5%
- 10x: 84.6%
- 20x: 72.3%
|
Validation Efficiency |
|
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: 68 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9430038I01Rik |
G |
T |
7: 136,978,711 (GRCm39) |
H144N |
unknown |
Het |
Acsm4 |
C |
T |
7: 119,297,798 (GRCm39) |
T145M |
probably damaging |
Het |
Adam10 |
T |
C |
9: 70,673,363 (GRCm39) |
L498P |
probably damaging |
Het |
Adgrl2 |
A |
G |
3: 148,522,934 (GRCm39) |
L430P |
|
Het |
Alk |
T |
C |
17: 72,256,916 (GRCm39) |
M648V |
probably benign |
Het |
Arhgap35 |
T |
C |
7: 16,297,794 (GRCm39) |
R424G |
possibly damaging |
Het |
Baiap2l1 |
T |
C |
5: 144,215,480 (GRCm39) |
K342E |
possibly damaging |
Het |
Ccdc54 |
C |
T |
16: 50,411,219 (GRCm39) |
V16M |
probably damaging |
Het |
Chil3 |
T |
G |
3: 106,055,975 (GRCm39) |
D366A |
probably damaging |
Het |
Chuk |
A |
G |
19: 44,087,046 (GRCm39) |
V151A |
probably damaging |
Het |
Cped1 |
T |
A |
6: 22,222,449 (GRCm39) |
C736* |
probably null |
Het |
Creb3l3 |
T |
C |
10: 80,920,746 (GRCm39) |
E428G |
probably benign |
Het |
Csad |
G |
A |
15: 102,097,085 (GRCm39) |
L7F |
probably benign |
Het |
Dnah1 |
C |
T |
14: 31,006,412 (GRCm39) |
D2255N |
probably damaging |
Het |
Dnajb12 |
T |
C |
10: 59,728,508 (GRCm39) |
Y159H |
probably damaging |
Het |
Dpysl4 |
T |
A |
7: 138,669,494 (GRCm39) |
Y57* |
probably null |
Het |
F2rl1 |
T |
G |
13: 95,650,154 (GRCm39) |
N243H |
probably benign |
Het |
Fhl4 |
T |
C |
10: 84,934,293 (GRCm39) |
K163E |
possibly damaging |
Het |
Flot2 |
T |
C |
11: 77,944,193 (GRCm39) |
S46P |
possibly damaging |
Het |
Fsip2 |
C |
A |
2: 82,821,196 (GRCm39) |
T5643K |
possibly damaging |
Het |
Golga4 |
T |
A |
9: 118,382,521 (GRCm39) |
Y542N |
possibly damaging |
Het |
Il17re |
A |
G |
6: 113,446,038 (GRCm39) |
T426A |
probably benign |
Het |
Kdm2a |
T |
A |
19: 4,393,201 (GRCm39) |
M385L |
probably benign |
Het |
Kdm3b |
T |
C |
18: 34,942,140 (GRCm39) |
S744P |
probably damaging |
Het |
Krtap20-1 |
T |
A |
16: 88,881,048 (GRCm39) |
Y26* |
probably null |
Het |
Lama2 |
T |
C |
10: 27,080,901 (GRCm39) |
D974G |
probably damaging |
Het |
Ldc1 |
A |
T |
4: 130,112,954 (GRCm39) |
N147K |
possibly damaging |
Het |
Lipo5 |
A |
T |
19: 33,443,339 (GRCm39) |
L159Q |
probably null |
Het |
LTO1 |
T |
A |
7: 144,470,181 (GRCm39) |
Y37N |
probably damaging |
Het |
Mau2 |
C |
T |
8: 70,483,302 (GRCm39) |
E187K |
possibly damaging |
Het |
Mrpl9 |
T |
C |
3: 94,355,136 (GRCm39) |
L236P |
probably benign |
Het |
Mta1 |
A |
G |
12: 113,096,870 (GRCm39) |
T564A |
probably benign |
Het |
Mylk |
C |
T |
16: 34,696,012 (GRCm39) |
S249L |
probably damaging |
Het |
Ncor1 |
G |
T |
11: 62,235,489 (GRCm39) |
T331K |
probably damaging |
Het |
Nsun3 |
T |
A |
16: 62,606,228 (GRCm39) |
K15N |
probably damaging |
Het |
Nsun5 |
A |
G |
5: 135,400,355 (GRCm39) |
Y132C |
probably benign |
Het |
Obsl1 |
T |
A |
1: 75,464,607 (GRCm39) |
T1605S |
probably benign |
Het |
Or10a3n |
A |
G |
7: 108,493,309 (GRCm39) |
Y107H |
probably damaging |
Het |
Or51f1 |
A |
G |
7: 102,505,809 (GRCm39) |
Y227H |
probably damaging |
Het |
Or51t4 |
A |
T |
7: 102,598,656 (GRCm39) |
Y328F |
probably benign |
Het |
Or5b109 |
T |
C |
19: 13,212,259 (GRCm39) |
I215T |
probably damaging |
Het |
P2rx1 |
A |
G |
11: 72,900,026 (GRCm39) |
N148D |
probably benign |
Het |
Pogz |
T |
A |
3: 94,787,107 (GRCm39) |
S1232T |
probably damaging |
Het |
Polr3b |
C |
A |
10: 84,520,049 (GRCm39) |
T655N |
probably damaging |
Het |
Prss34 |
T |
C |
17: 25,517,882 (GRCm39) |
|
probably null |
Het |
Rhpn2 |
A |
G |
7: 35,090,178 (GRCm39) |
|
probably null |
Het |
Runx1 |
T |
A |
16: 92,410,648 (GRCm39) |
D256V |
probably damaging |
Het |
Shc1 |
C |
A |
3: 89,334,715 (GRCm39) |
Q525K |
probably benign |
Het |
Slc10a5 |
T |
C |
3: 10,400,507 (GRCm39) |
D51G |
probably benign |
Het |
Slc6a3 |
A |
T |
13: 73,719,642 (GRCm39) |
N557I |
probably benign |
Het |
Slmap |
C |
T |
14: 26,254,586 (GRCm39) |
R32H |
probably damaging |
Het |
Spata31d1c |
T |
C |
13: 65,183,985 (GRCm39) |
I509T |
probably benign |
Het |
Spata31e4 |
A |
T |
13: 50,855,007 (GRCm39) |
E215V |
probably damaging |
Het |
Srr |
C |
A |
11: 74,801,134 (GRCm39) |
V138F |
probably benign |
Het |
Tas2r118 |
G |
A |
6: 23,969,785 (GRCm39) |
T92I |
possibly damaging |
Het |
Tcaf2 |
A |
T |
6: 42,601,300 (GRCm39) |
*920K |
probably null |
Het |
Tenm2 |
T |
A |
11: 35,954,729 (GRCm39) |
Y1141F |
probably damaging |
Het |
Thoc6 |
T |
C |
17: 23,887,841 (GRCm39) |
N322S |
probably benign |
Het |
Tlcd2 |
A |
G |
11: 75,359,417 (GRCm39) |
I70V |
probably benign |
Het |
Tmem214 |
A |
G |
5: 31,028,795 (GRCm39) |
D128G |
possibly damaging |
Het |
Trav13d-4 |
T |
C |
14: 53,995,238 (GRCm39) |
V64A |
probably benign |
Het |
Tyro3 |
T |
C |
2: 119,632,845 (GRCm39) |
W122R |
probably damaging |
Het |
Ugcg |
A |
G |
4: 59,213,246 (GRCm39) |
D144G |
possibly damaging |
Het |
Uimc1 |
T |
C |
13: 55,178,828 (GRCm39) |
D627G |
probably benign |
Het |
Utp6 |
T |
C |
11: 79,853,099 (GRCm39) |
I13V |
probably benign |
Het |
Vmn2r99 |
A |
G |
17: 19,614,605 (GRCm39) |
K775R |
probably damaging |
Het |
Wdfy3 |
CG |
C |
5: 102,030,827 (GRCm39) |
|
probably null |
Het |
Zw10 |
C |
T |
9: 48,982,944 (GRCm39) |
T525I |
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 |
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 |
R0416:Cpd
|
UTSW |
11 |
76,676,030 (GRCm39) |
missense |
probably benign |
0.13 |
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'- AGGGTCATCTTACGTGGTAAGG -3'
(R):5'- CAGTCCTCTATTTCCCAGTGCTG -3'
Sequencing Primer
(F):5'- GGTAGTTCATTACAAGTCCTCTCAGG -3'
(R):5'- CTGGAATACTGAGAAAGTGTGCATC -3'
|
Posted On |
2019-06-07 |