Incidental Mutation 'R7392:Cpd'
ID |
573525 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cpd
|
Ensembl Gene |
ENSMUSG00000020841 |
Gene Name |
carboxypeptidase D |
Synonyms |
D830034L15Rik |
MMRRC Submission |
045474-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.928)
|
Stock # |
R7392 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
76669250-76737844 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 76692605 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Aspartic acid
at position 744
(G744D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000021201
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021201]
|
AlphaFold |
O89001 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000021201
AA Change: G744D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000021201 Gene: ENSMUSG00000020841 AA Change: G744D
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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.8%
|
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: 83 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2610021A01Rik |
T |
A |
7: 41,275,990 (GRCm39) |
F564L |
probably damaging |
Het |
Abcc2 |
T |
C |
19: 43,797,126 (GRCm39) |
I499T |
probably damaging |
Het |
Adamts13 |
C |
T |
2: 26,879,336 (GRCm39) |
R630C |
probably damaging |
Het |
Adgrv1 |
A |
T |
13: 81,708,808 (GRCm39) |
F1199I |
probably damaging |
Het |
Agbl5 |
G |
A |
5: 31,048,115 (GRCm39) |
|
probably null |
Het |
Anks1b |
A |
G |
10: 90,516,648 (GRCm39) |
D881G |
possibly damaging |
Het |
Arap2 |
A |
T |
5: 62,855,728 (GRCm39) |
S569R |
possibly damaging |
Het |
Arhgap15 |
T |
C |
2: 43,953,786 (GRCm39) |
S171P |
possibly damaging |
Het |
Arhgef11 |
G |
A |
3: 87,624,482 (GRCm39) |
|
probably null |
Het |
Baz1a |
C |
A |
12: 54,945,550 (GRCm39) |
L1271F |
probably damaging |
Het |
Bdnf |
A |
C |
2: 109,554,275 (GRCm39) |
K216N |
probably benign |
Het |
Bmp7 |
C |
T |
2: 172,711,998 (GRCm39) |
D409N |
probably damaging |
Het |
Bnip5 |
A |
T |
17: 29,127,351 (GRCm39) |
D219E |
probably benign |
Het |
Cacna1c |
T |
A |
6: 118,718,881 (GRCm39) |
I390F |
|
Het |
Chd8 |
A |
G |
14: 52,470,312 (GRCm39) |
S433P |
probably benign |
Het |
Clrn2 |
A |
G |
5: 45,621,251 (GRCm39) |
E215G |
possibly damaging |
Het |
Col19a1 |
T |
G |
1: 24,573,115 (GRCm39) |
D219A |
unknown |
Het |
Col2a1 |
G |
A |
15: 97,878,032 (GRCm39) |
R1036* |
probably null |
Het |
Copg1 |
T |
A |
6: 87,867,257 (GRCm39) |
V110D |
probably benign |
Het |
Crygs |
G |
A |
16: 22,625,252 (GRCm39) |
P63L |
probably benign |
Het |
Dcn |
A |
G |
10: 97,345,860 (GRCm39) |
D224G |
probably damaging |
Het |
Dnah7a |
T |
C |
1: 53,540,820 (GRCm39) |
E2518G |
probably benign |
Het |
Efcab6 |
C |
A |
15: 83,873,152 (GRCm39) |
R197L |
probably benign |
Het |
Efr3b |
T |
A |
12: 4,019,588 (GRCm39) |
Y723F |
probably benign |
Het |
Enam |
A |
G |
5: 88,649,523 (GRCm39) |
N344S |
probably damaging |
Het |
Erich4 |
A |
G |
7: 25,315,101 (GRCm39) |
I58T |
possibly damaging |
Het |
Esrp1 |
A |
G |
4: 11,338,809 (GRCm39) |
V665A |
probably benign |
Het |
Etf1 |
G |
A |
18: 35,039,103 (GRCm39) |
T388I |
probably benign |
Het |
Faf1 |
A |
G |
4: 109,652,040 (GRCm39) |
T244A |
probably benign |
Het |
Fbn1 |
T |
C |
2: 125,185,844 (GRCm39) |
D1610G |
probably damaging |
Het |
Fcgbpl1 |
C |
T |
7: 27,863,797 (GRCm39) |
T2523M |
possibly damaging |
Het |
Frem1 |
G |
T |
4: 82,932,064 (GRCm39) |
F212L |
probably benign |
Het |
Fuom |
T |
A |
7: 139,681,073 (GRCm39) |
D85V |
probably damaging |
Het |
Gcfc2 |
T |
C |
6: 81,919,993 (GRCm39) |
|
probably null |
Het |
Gpr37 |
C |
T |
6: 25,688,786 (GRCm39) |
A104T |
probably benign |
Het |
Hsp90ab1 |
G |
C |
17: 45,879,974 (GRCm39) |
T514S |
probably benign |
Het |
Ifnl2 |
A |
G |
7: 28,209,094 (GRCm39) |
F74L |
probably benign |
Het |
Ipo11 |
G |
A |
13: 107,028,199 (GRCm39) |
R367* |
probably null |
Het |
Itpr2 |
T |
C |
6: 146,260,838 (GRCm39) |
D963G |
possibly damaging |
Het |
Krt15 |
A |
T |
11: 100,026,386 (GRCm39) |
V100E |
possibly damaging |
Het |
Lrch3 |
T |
A |
16: 32,807,125 (GRCm39) |
L466* |
probably null |
Het |
Lrfn5 |
A |
T |
12: 61,887,090 (GRCm39) |
T293S |
probably benign |
Het |
Lrp5 |
A |
G |
19: 3,660,199 (GRCm39) |
I955T |
probably damaging |
Het |
Lrrc4b |
C |
T |
7: 44,111,439 (GRCm39) |
T437M |
probably damaging |
Het |
Man1a |
A |
G |
10: 53,795,283 (GRCm39) |
Y657H |
probably damaging |
Het |
Mapkap1 |
G |
T |
2: 34,325,166 (GRCm39) |
R94L |
probably damaging |
Het |
Mtmr4 |
T |
A |
11: 87,495,383 (GRCm39) |
L480Q |
probably damaging |
Het |
Mycbp2 |
T |
C |
14: 103,389,627 (GRCm39) |
I3504M |
probably damaging |
Het |
Mycbp2 |
A |
T |
14: 103,480,564 (GRCm39) |
C1169S |
probably damaging |
Het |
Myo15a |
T |
C |
11: 60,396,802 (GRCm39) |
S1455P |
|
Het |
Niban1 |
A |
G |
1: 151,571,975 (GRCm39) |
T307A |
probably damaging |
Het |
Nid2 |
A |
G |
14: 19,818,724 (GRCm39) |
D406G |
probably benign |
Het |
Nrip2 |
A |
G |
6: 128,381,913 (GRCm39) |
I69V |
probably benign |
Het |
Nthl1 |
G |
A |
17: 24,857,598 (GRCm39) |
V266I |
probably benign |
Het |
Or2ag16 |
T |
C |
7: 106,352,589 (GRCm39) |
E2G |
possibly damaging |
Het |
Or5an6 |
G |
T |
19: 12,371,829 (GRCm39) |
L67F |
probably damaging |
Het |
Or5b21 |
A |
G |
19: 12,839,951 (GRCm39) |
T271A |
probably benign |
Het |
Or5g23 |
A |
C |
2: 85,438,832 (GRCm39) |
C141G |
possibly damaging |
Het |
Or5p75-ps1 |
C |
A |
7: 108,107,291 (GRCm39) |
H9Q |
possibly damaging |
Het |
Or8k25 |
A |
G |
2: 86,243,496 (GRCm39) |
V300A |
probably benign |
Het |
Or8s5 |
A |
G |
15: 98,238,192 (GRCm39) |
V226A |
probably benign |
Het |
Pcdhb1 |
A |
C |
18: 37,398,171 (GRCm39) |
S41R |
possibly damaging |
Het |
Pdcd11 |
T |
A |
19: 47,116,436 (GRCm39) |
F1529I |
probably damaging |
Het |
Plcd3 |
C |
A |
11: 102,992,383 (GRCm39) |
|
probably benign |
Het |
Qdpr |
T |
C |
5: 45,596,718 (GRCm39) |
M149V |
probably benign |
Het |
R3hcc1 |
T |
A |
14: 69,943,329 (GRCm39) |
|
probably null |
Het |
Rasgrf2 |
T |
C |
13: 92,041,856 (GRCm39) |
Y392C |
|
Het |
Slc8a3 |
A |
C |
12: 81,361,577 (GRCm39) |
V414G |
probably damaging |
Het |
Slco1a6 |
A |
G |
6: 142,103,003 (GRCm39) |
S54P |
probably benign |
Het |
Sos1 |
C |
A |
17: 80,731,629 (GRCm39) |
V624F |
probably damaging |
Het |
Spdef |
T |
C |
17: 27,936,262 (GRCm39) |
D227G |
probably benign |
Het |
Sptb |
G |
T |
12: 76,671,003 (GRCm39) |
Q447K |
probably damaging |
Het |
Srsf12 |
A |
T |
4: 33,209,265 (GRCm39) |
R62W |
unknown |
Het |
Stag3 |
T |
C |
5: 138,289,628 (GRCm39) |
L266P |
probably damaging |
Het |
Sult2b1 |
T |
C |
7: 45,391,862 (GRCm39) |
|
probably benign |
Het |
Taf1a |
A |
G |
1: 183,190,095 (GRCm39) |
T66A |
|
Het |
Tfg |
A |
T |
16: 56,532,972 (GRCm39) |
|
probably null |
Het |
Trim34b |
A |
G |
7: 103,985,604 (GRCm39) |
N413S |
probably benign |
Het |
Txndc15 |
T |
A |
13: 55,869,399 (GRCm39) |
M184K |
probably damaging |
Het |
Umodl1 |
A |
C |
17: 31,201,306 (GRCm39) |
S412R |
probably damaging |
Het |
Zbtb8b |
T |
A |
4: 129,326,683 (GRCm39) |
M161L |
probably benign |
Het |
Zfp597 |
A |
T |
16: 3,684,369 (GRCm39) |
V129E |
probably benign |
Het |
Zfp790 |
T |
C |
7: 29,528,050 (GRCm39) |
I245T |
possibly 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 |
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 |
|
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'- CTCGTCTTGGACTTGAAAGGAC -3'
(R):5'- ATGGAAGAAGACTTTGCAGCAC -3'
Sequencing Primer
(F):5'- GTCTTGGACTTGAAAGGACTCACAC -3'
(R):5'- AAGACTTTGCAGCACCTTGG -3'
|
Posted On |
2019-09-13 |