Incidental Mutation 'R4551:Cpd'
ID |
374421 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cpd
|
Ensembl Gene |
ENSMUSG00000020841 |
Gene Name |
carboxypeptidase D |
Synonyms |
D830034L15Rik |
MMRRC Submission |
041782-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.928)
|
Stock # |
R4551 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
76669250-76737844 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 76702712 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Aspartic acid
at position 552
(G552D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000021201
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021201]
|
AlphaFold |
O89001 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000021201
AA Change: G552D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000021201 Gene: ENSMUSG00000020841 AA Change: G552D
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: ENSMUST00000132796
|
Meta Mutation Damage Score |
0.4975 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.5%
|
Validation Efficiency |
100% (71/71) |
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: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aatk |
T |
G |
11: 119,902,395 (GRCm39) |
E610A |
probably benign |
Het |
Abhd17b |
T |
C |
19: 21,658,290 (GRCm39) |
S176P |
possibly damaging |
Het |
Adgrg7 |
A |
G |
16: 56,568,375 (GRCm39) |
Y427H |
probably damaging |
Het |
Alox15 |
T |
A |
11: 70,235,422 (GRCm39) |
I647L |
probably benign |
Het |
Ankhd1 |
C |
A |
18: 36,788,560 (GRCm39) |
|
probably null |
Het |
Arid1a |
A |
C |
4: 133,423,010 (GRCm39) |
|
probably benign |
Het |
Armcx5 |
T |
A |
X: 134,647,256 (GRCm39) |
V444D |
probably damaging |
Het |
C4bp |
A |
G |
1: 130,564,464 (GRCm39) |
Y407H |
possibly damaging |
Het |
Cog6 |
T |
A |
3: 52,905,741 (GRCm39) |
E96V |
probably damaging |
Het |
Cox20 |
A |
C |
1: 178,150,114 (GRCm39) |
N96T |
probably benign |
Het |
Cpa3 |
T |
C |
3: 20,273,934 (GRCm39) |
I351V |
probably benign |
Het |
Cyld |
A |
G |
8: 89,433,762 (GRCm39) |
K184E |
possibly damaging |
Het |
Dab2 |
G |
A |
15: 6,464,775 (GRCm39) |
G324D |
probably damaging |
Het |
Depdc1a |
T |
A |
3: 159,228,221 (GRCm39) |
D324E |
probably damaging |
Het |
Dnah9 |
T |
C |
11: 65,732,192 (GRCm39) |
E4238G |
probably damaging |
Het |
Dync1i1 |
T |
A |
6: 5,923,206 (GRCm39) |
D275E |
probably benign |
Het |
Epgn |
A |
T |
5: 91,175,421 (GRCm39) |
K14* |
probably null |
Het |
Farp2 |
T |
A |
1: 93,546,314 (GRCm39) |
L868Q |
possibly damaging |
Het |
Gpr45 |
A |
G |
1: 43,071,950 (GRCm39) |
T198A |
probably benign |
Het |
Grk2 |
C |
T |
19: 4,336,084 (GRCm39) |
V402M |
possibly damaging |
Het |
Gsap |
A |
T |
5: 21,495,569 (GRCm39) |
D79V |
probably damaging |
Het |
Gtf2h3 |
A |
G |
5: 124,728,482 (GRCm39) |
|
probably benign |
Het |
Hus1b |
C |
A |
13: 31,131,059 (GRCm39) |
S200I |
probably damaging |
Het |
Hypk |
A |
G |
2: 121,283,961 (GRCm39) |
|
probably null |
Het |
Ikbke |
T |
C |
1: 131,185,770 (GRCm39) |
|
probably benign |
Het |
Kat6b |
A |
G |
14: 21,711,516 (GRCm39) |
E670G |
probably damaging |
Het |
Kif26b |
T |
A |
1: 178,711,600 (GRCm39) |
I740N |
probably damaging |
Het |
Lhx3 |
G |
A |
2: 26,091,202 (GRCm39) |
P369L |
probably damaging |
Het |
Man2c1 |
T |
C |
9: 57,038,445 (GRCm39) |
L35P |
probably damaging |
Het |
Mical2 |
T |
A |
7: 111,981,123 (GRCm39) |
S366T |
possibly damaging |
Het |
Mroh9 |
A |
T |
1: 162,871,662 (GRCm39) |
I607N |
probably damaging |
Het |
Mybphl |
T |
C |
3: 108,281,479 (GRCm39) |
I65T |
possibly damaging |
Het |
Myo1g |
A |
G |
11: 6,467,874 (GRCm39) |
I187T |
probably damaging |
Het |
Myo7b |
T |
C |
18: 32,118,161 (GRCm39) |
S822G |
probably benign |
Het |
Nkx2-4 |
C |
A |
2: 146,926,842 (GRCm39) |
A142S |
probably benign |
Het |
Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
Odf4 |
C |
T |
11: 68,812,866 (GRCm39) |
S264N |
probably benign |
Het |
Or12k7 |
G |
T |
2: 36,958,355 (GRCm39) |
V13L |
probably benign |
Het |
Or13a17 |
A |
T |
7: 140,271,655 (GRCm39) |
Y279F |
probably damaging |
Het |
Or56b1 |
A |
T |
7: 104,285,631 (GRCm39) |
H250L |
probably damaging |
Het |
Papolb |
T |
C |
5: 142,514,933 (GRCm39) |
I237V |
probably benign |
Het |
Parpbp |
T |
A |
10: 87,929,564 (GRCm39) |
Q428L |
possibly damaging |
Het |
Pcdhb16 |
T |
C |
18: 37,612,887 (GRCm39) |
F616L |
probably damaging |
Het |
Pdk3 |
A |
T |
X: 92,825,846 (GRCm39) |
M253K |
probably damaging |
Het |
Pgap2 |
C |
A |
7: 101,875,674 (GRCm39) |
|
probably benign |
Het |
Pkhd1l1 |
C |
A |
15: 44,414,281 (GRCm39) |
N2849K |
probably damaging |
Het |
Pprc1 |
A |
G |
19: 46,055,664 (GRCm39) |
|
probably benign |
Het |
Psma2 |
A |
G |
13: 14,791,430 (GRCm39) |
Y25C |
possibly damaging |
Het |
Ptgir |
A |
G |
7: 16,640,794 (GRCm39) |
M29V |
possibly damaging |
Het |
Ptpn5 |
C |
A |
7: 46,740,600 (GRCm39) |
|
probably benign |
Het |
Pxn |
G |
T |
5: 115,690,779 (GRCm39) |
|
probably benign |
Het |
Scd3 |
C |
A |
19: 44,203,878 (GRCm39) |
A22E |
probably benign |
Het |
Sdr42e1 |
T |
C |
8: 118,390,347 (GRCm39) |
E98G |
probably benign |
Het |
Slc14a2 |
A |
C |
18: 78,239,068 (GRCm39) |
S184A |
probably benign |
Het |
Tmem236 |
A |
T |
2: 14,223,964 (GRCm39) |
Q251L |
probably benign |
Het |
Trappc8 |
T |
C |
18: 21,007,729 (GRCm39) |
T129A |
probably benign |
Het |
Vmn1r90 |
A |
C |
7: 14,295,894 (GRCm39) |
M68R |
possibly damaging |
Het |
Vmn2r105 |
A |
G |
17: 20,446,613 (GRCm39) |
V462A |
probably benign |
Het |
Vmn2r7 |
T |
C |
3: 64,598,110 (GRCm39) |
T816A |
possibly damaging |
Het |
Vmn2r81 |
T |
A |
10: 79,104,241 (GRCm39) |
I288K |
possibly damaging |
Het |
Zfp180 |
A |
C |
7: 23,803,998 (GRCm39) |
K139T |
possibly damaging |
Het |
Zfp932 |
T |
C |
5: 110,157,505 (GRCm39) |
V401A |
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 |
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 |
|
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'- AACCAACATATTAGGCTGTCTCTTC -3'
(R):5'- CCTGCTCAGACATGTGTACTG -3'
Sequencing Primer
(F):5'- TGGGACTTTTCATATCCATCAGG -3'
(R):5'- GCTCAGACATGTGTACTGATTAAAAG -3'
|
Posted On |
2016-03-11 |