Incidental Mutation 'R2281:Cpd'
ID |
243149 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cpd
|
Ensembl Gene |
ENSMUSG00000020841 |
Gene Name |
carboxypeptidase D |
Synonyms |
D830034L15Rik |
MMRRC Submission |
040280-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.928)
|
Stock # |
R2281 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
76669250-76737844 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 76688627 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Glutamic Acid
at position 882
(K882E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000021201
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021201]
|
AlphaFold |
O89001 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000021201
AA Change: K882E
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000021201 Gene: ENSMUSG00000020841 AA Change: K882E
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: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.0%
|
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: 73 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930503B20Rik |
A |
G |
3: 146,352,179 (GRCm39) |
L228S |
probably damaging |
Het |
Abca13 |
A |
T |
11: 9,278,136 (GRCm39) |
K3105N |
probably damaging |
Het |
Abca3 |
T |
A |
17: 24,595,700 (GRCm39) |
L351Q |
possibly damaging |
Het |
Acadm |
A |
G |
3: 153,638,680 (GRCm39) |
I231T |
possibly damaging |
Het |
Adamts4 |
A |
T |
1: 171,083,798 (GRCm39) |
Q456L |
probably damaging |
Het |
Adgra3 |
C |
T |
5: 50,159,222 (GRCm39) |
V343I |
probably benign |
Het |
Ajuba |
C |
A |
14: 54,814,645 (GRCm39) |
G26V |
probably damaging |
Het |
Aldh1a1 |
A |
G |
19: 20,597,455 (GRCm39) |
I145M |
possibly damaging |
Het |
Ankrd42 |
G |
A |
7: 92,274,981 (GRCm39) |
Q110* |
probably null |
Het |
Ano3 |
T |
A |
2: 110,513,104 (GRCm39) |
E630D |
probably benign |
Het |
Ap3d1 |
T |
C |
10: 80,549,832 (GRCm39) |
D771G |
probably damaging |
Het |
Arhgap30 |
A |
G |
1: 171,216,896 (GRCm39) |
D21G |
probably damaging |
Het |
Atg13 |
T |
C |
2: 91,509,770 (GRCm39) |
N374S |
probably benign |
Het |
Ccdc168 |
T |
A |
1: 44,095,620 (GRCm39) |
H1826L |
possibly damaging |
Het |
Ccser1 |
A |
T |
6: 61,547,799 (GRCm39) |
M49L |
probably damaging |
Het |
Cdh5 |
A |
G |
8: 104,852,365 (GRCm39) |
E160G |
probably damaging |
Het |
Crtac1 |
G |
A |
19: 42,272,006 (GRCm39) |
L646F |
unknown |
Het |
Cyp27b1 |
T |
G |
10: 126,884,163 (GRCm39) |
V5G |
probably damaging |
Het |
Dcaf11 |
G |
T |
14: 55,806,828 (GRCm39) |
*550Y |
probably null |
Het |
Dhx58 |
A |
G |
11: 100,588,980 (GRCm39) |
|
probably null |
Het |
Dlg2 |
T |
A |
7: 92,087,249 (GRCm39) |
I881N |
probably damaging |
Het |
Ece1 |
C |
T |
4: 137,673,673 (GRCm39) |
T407M |
possibly damaging |
Het |
Ecsit |
C |
T |
9: 21,987,836 (GRCm39) |
V68I |
possibly damaging |
Het |
Egln1 |
T |
C |
8: 125,675,153 (GRCm39) |
D214G |
probably benign |
Het |
Espn |
T |
C |
4: 152,220,002 (GRCm39) |
T47A |
possibly damaging |
Het |
F5 |
A |
G |
1: 164,023,289 (GRCm39) |
I1616V |
possibly damaging |
Het |
Fam43b |
G |
C |
4: 138,122,409 (GRCm39) |
R304G |
probably benign |
Het |
Flnc |
G |
A |
6: 29,438,665 (GRCm39) |
W186* |
probably null |
Het |
Fryl |
T |
C |
5: 73,198,707 (GRCm39) |
D2640G |
possibly damaging |
Het |
Gabrg2 |
T |
C |
11: 41,867,463 (GRCm39) |
K52R |
possibly damaging |
Het |
Ganab |
T |
C |
19: 8,886,832 (GRCm39) |
V306A |
probably damaging |
Het |
Glod4 |
A |
T |
11: 76,128,635 (GRCm39) |
I70N |
possibly damaging |
Het |
Gsn |
T |
A |
2: 35,173,930 (GRCm39) |
V2E |
probably benign |
Het |
H1f2 |
A |
G |
13: 23,922,907 (GRCm39) |
K26E |
probably benign |
Het |
Hrg |
C |
T |
16: 22,780,059 (GRCm39) |
|
probably benign |
Het |
Kctd19 |
T |
C |
8: 106,113,898 (GRCm39) |
T592A |
probably benign |
Het |
Kdm3b |
A |
G |
18: 34,941,472 (GRCm39) |
D521G |
probably damaging |
Het |
Lrba |
A |
G |
3: 86,683,410 (GRCm39) |
H2744R |
possibly damaging |
Het |
Lsr |
C |
T |
7: 30,657,770 (GRCm39) |
A397T |
probably damaging |
Het |
Methig1 |
A |
T |
15: 100,251,241 (GRCm39) |
M51L |
possibly damaging |
Het |
Mga |
A |
G |
2: 119,734,204 (GRCm39) |
I351V |
probably benign |
Het |
Mlf1 |
G |
A |
3: 67,307,084 (GRCm39) |
V250I |
possibly damaging |
Het |
Mreg |
A |
T |
1: 72,231,223 (GRCm39) |
N78K |
probably damaging |
Het |
Mtor |
A |
G |
4: 148,574,012 (GRCm39) |
D1294G |
probably benign |
Het |
Nfkb1 |
T |
C |
3: 135,307,282 (GRCm39) |
I548V |
probably damaging |
Het |
Nlrp3 |
T |
C |
11: 59,439,962 (GRCm39) |
F513S |
possibly damaging |
Het |
Nphp4 |
A |
G |
4: 152,641,500 (GRCm39) |
K1094E |
possibly damaging |
Het |
Nr3c2 |
C |
A |
8: 77,636,536 (GRCm39) |
H546N |
probably damaging |
Het |
Nr4a2 |
T |
A |
2: 57,002,211 (GRCm39) |
M18L |
probably benign |
Het |
Or2y1f |
A |
C |
11: 49,184,459 (GRCm39) |
T104P |
probably benign |
Het |
Or4c109 |
G |
A |
2: 88,817,814 (GRCm39) |
T244I |
probably benign |
Het |
Pclo |
A |
G |
5: 14,590,346 (GRCm39) |
N882S |
unknown |
Het |
Pde6a |
T |
C |
18: 61,395,505 (GRCm39) |
Y583H |
probably damaging |
Het |
Pip5k1b |
T |
A |
19: 24,356,311 (GRCm39) |
Y209F |
probably damaging |
Het |
Plch2 |
A |
T |
4: 155,068,766 (GRCm39) |
S1182T |
probably damaging |
Het |
Ptger2 |
G |
T |
14: 45,227,107 (GRCm39) |
R229L |
probably damaging |
Het |
Ptpru |
C |
A |
4: 131,535,810 (GRCm39) |
G389V |
probably damaging |
Het |
Ric8a |
A |
G |
7: 140,441,851 (GRCm39) |
N249S |
probably benign |
Het |
Slc26a5 |
A |
G |
5: 22,036,508 (GRCm39) |
I266T |
possibly damaging |
Het |
Smyd1 |
T |
C |
6: 71,215,660 (GRCm39) |
N100D |
probably damaging |
Het |
Spmap2l |
T |
C |
5: 77,207,214 (GRCm39) |
I324T |
probably damaging |
Het |
Stag3 |
T |
C |
5: 138,296,546 (GRCm39) |
F468S |
probably damaging |
Het |
Stk31 |
C |
T |
6: 49,394,184 (GRCm39) |
T182I |
probably damaging |
Het |
Svep1 |
G |
T |
4: 58,082,677 (GRCm39) |
N1982K |
possibly damaging |
Het |
Tinagl1 |
A |
G |
4: 130,060,786 (GRCm39) |
Y344H |
probably damaging |
Het |
Tmem216 |
T |
A |
19: 10,529,237 (GRCm39) |
T104S |
probably damaging |
Het |
Tmem231 |
T |
C |
8: 112,645,563 (GRCm39) |
D112G |
probably damaging |
Het |
Ube4b |
A |
G |
4: 149,429,029 (GRCm39) |
I870T |
probably damaging |
Het |
Vwa8 |
T |
A |
14: 79,302,436 (GRCm39) |
L1035Q |
possibly damaging |
Het |
Wdr35 |
A |
G |
12: 9,028,628 (GRCm39) |
Q82R |
probably benign |
Het |
Wnk1 |
A |
T |
6: 119,940,601 (GRCm39) |
|
probably null |
Het |
Zc3h7a |
T |
C |
16: 10,976,458 (GRCm39) |
|
probably benign |
Het |
Zfp532 |
T |
C |
18: 65,757,783 (GRCm39) |
V572A |
probably damaging |
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 |
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 |
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'- GGGTCATCTTACGTGGTAAGGTT -3'
(R):5'- GCAGTCCTCTATTTCCCAGTGC -3'
Sequencing Primer
(F):5'- GGTAGTTCATTACAAGTCCTCTCAGG -3'
(R):5'- CTGGAATACTGAGAAAGTGTGCATC -3'
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Posted On |
2014-10-16 |