Incidental Mutation 'R1518:Cpd'
| ID |
167209 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cpd
|
| Ensembl Gene |
ENSMUSG00000020841 |
| Gene Name |
carboxypeptidase D |
| Synonyms |
D830034L15Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.922)
|
| Stock # |
R1518 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
76669250-76737844 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to T
at 76731212 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021201
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021201]
|
| AlphaFold |
O89001 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000021201
|
| SMART Domains |
Protein: ENSMUSP00000021201
Gene: ENSMUSG00000020841
| 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: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.3%
|
| 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: 78 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg4 |
T |
A |
9: 44,186,666 (GRCm39) |
M493L |
probably benign |
Het |
| Abtb2 |
G |
A |
2: 103,539,629 (GRCm39) |
V665I |
probably benign |
Het |
| Adamtsl1 |
C |
G |
4: 86,260,840 (GRCm39) |
S1017W |
probably damaging |
Het |
| Aebp1 |
A |
G |
11: 5,821,469 (GRCm39) |
T623A |
possibly damaging |
Het |
| Alox5 |
A |
G |
6: 116,390,741 (GRCm39) |
F470S |
probably damaging |
Het |
| Angpt2 |
T |
C |
8: 18,755,855 (GRCm39) |
E204G |
probably benign |
Het |
| Apip |
A |
G |
2: 102,919,838 (GRCm39) |
E138G |
probably damaging |
Het |
| Apob |
C |
T |
12: 8,039,207 (GRCm39) |
T466M |
probably benign |
Het |
| Atp2b3 |
GACAACA |
GACA |
X: 72,588,729 (GRCm39) |
|
probably benign |
Het |
| Atxn7l3 |
A |
T |
11: 102,185,340 (GRCm39) |
D56E |
probably benign |
Het |
| Cacna1s |
C |
T |
1: 136,026,289 (GRCm39) |
A1092V |
probably damaging |
Het |
| Calr3 |
A |
G |
8: 73,181,044 (GRCm39) |
F183L |
probably damaging |
Het |
| Cd300lb |
T |
A |
11: 114,816,877 (GRCm39) |
D55V |
probably benign |
Het |
| Chid1 |
A |
C |
7: 141,108,384 (GRCm39) |
V145G |
probably damaging |
Het |
| Chst15 |
T |
C |
7: 131,871,855 (GRCm39) |
N142S |
probably damaging |
Het |
| Cnot4 |
C |
T |
6: 35,028,389 (GRCm39) |
R409Q |
probably damaging |
Het |
| Cope |
T |
G |
8: 70,765,411 (GRCm39) |
I287S |
possibly damaging |
Het |
| Cux1 |
G |
T |
5: 136,337,133 (GRCm39) |
T785K |
probably benign |
Het |
| Dennd2b |
A |
G |
7: 109,156,562 (GRCm39) |
S63P |
probably damaging |
Het |
| Dthd1 |
T |
C |
5: 62,979,383 (GRCm39) |
S348P |
probably damaging |
Het |
| Eno3 |
G |
T |
11: 70,551,903 (GRCm39) |
E64* |
probably null |
Het |
| Entpd1 |
T |
A |
19: 40,713,507 (GRCm39) |
Y184* |
probably null |
Het |
| Erv3 |
A |
T |
2: 131,698,083 (GRCm39) |
M92K |
probably benign |
Het |
| Flg2 |
T |
A |
3: 93,110,445 (GRCm39) |
H824Q |
unknown |
Het |
| Fndc9 |
G |
A |
11: 46,128,930 (GRCm39) |
G150S |
probably benign |
Het |
| Gdap1 |
G |
A |
1: 17,217,169 (GRCm39) |
V43I |
possibly damaging |
Het |
| Ifi213 |
C |
A |
1: 173,417,229 (GRCm39) |
L394F |
probably damaging |
Het |
| Ift88 |
A |
G |
14: 57,668,085 (GRCm39) |
T29A |
possibly damaging |
Het |
| Kdm4c |
A |
T |
4: 74,252,063 (GRCm39) |
I437L |
probably benign |
Het |
| Kras |
T |
A |
6: 145,177,977 (GRCm39) |
E98D |
probably benign |
Het |
| Lcorl |
C |
A |
5: 45,891,543 (GRCm39) |
R353I |
possibly damaging |
Het |
| Lrrc4c |
A |
G |
2: 97,460,921 (GRCm39) |
I516V |
probably benign |
Het |
| Lrrc51 |
T |
C |
7: 101,564,803 (GRCm39) |
D85G |
probably damaging |
Het |
| Lypd6b |
G |
A |
2: 49,837,504 (GRCm39) |
A159T |
probably damaging |
Het |
| Magel2 |
G |
A |
7: 62,030,188 (GRCm39) |
V1031I |
unknown |
Het |
| Man1c1 |
A |
T |
4: 134,308,100 (GRCm39) |
N338K |
probably benign |
Het |
| Mdn1 |
C |
A |
4: 32,739,977 (GRCm39) |
Q3744K |
probably damaging |
Het |
| Micu3 |
G |
T |
8: 40,788,893 (GRCm39) |
A135S |
possibly damaging |
Het |
| Muc4 |
T |
C |
16: 32,569,167 (GRCm39) |
S76P |
possibly damaging |
Het |
| Nin |
T |
G |
12: 70,061,547 (GRCm39) |
T2106P |
probably benign |
Het |
| Nlrp4e |
T |
C |
7: 23,021,268 (GRCm39) |
I585T |
probably benign |
Het |
| Npy1r |
C |
T |
8: 67,156,847 (GRCm39) |
A89V |
probably benign |
Het |
| Or11g27 |
T |
C |
14: 50,771,622 (GRCm39) |
V251A |
probably damaging |
Het |
| Or4c115 |
G |
A |
2: 88,927,944 (GRCm39) |
A109V |
probably benign |
Het |
| Or52ae7 |
T |
A |
7: 103,119,249 (GRCm39) |
M1K |
probably null |
Het |
| Or52n3 |
T |
A |
7: 104,530,515 (GRCm39) |
Y200* |
probably null |
Het |
| Or5w13 |
A |
T |
2: 87,523,872 (GRCm39) |
M118K |
probably damaging |
Het |
| Parp14 |
T |
G |
16: 35,677,008 (GRCm39) |
T987P |
possibly damaging |
Het |
| Pde7b |
A |
T |
10: 20,423,867 (GRCm39) |
V3E |
probably damaging |
Het |
| Pdlim7 |
G |
T |
13: 55,656,107 (GRCm39) |
Y104* |
probably null |
Het |
| Pgm2l1 |
A |
G |
7: 99,910,932 (GRCm39) |
K292R |
probably benign |
Het |
| Plec |
T |
C |
15: 76,072,401 (GRCm39) |
E728G |
probably damaging |
Het |
| Plppr4 |
T |
C |
3: 117,129,152 (GRCm39) |
Y105C |
probably damaging |
Het |
| Polr1c |
A |
T |
17: 46,558,821 (GRCm39) |
N23K |
possibly damaging |
Het |
| Ppp5c |
A |
T |
7: 16,743,861 (GRCm39) |
M191K |
probably damaging |
Het |
| Prkca |
T |
C |
11: 107,869,142 (GRCm39) |
D57G |
probably damaging |
Het |
| Prkcb |
A |
G |
7: 122,143,854 (GRCm39) |
|
probably null |
Het |
| Prl6a1 |
A |
T |
13: 27,502,911 (GRCm39) |
Q169L |
probably null |
Het |
| Prl6a1 |
C |
A |
13: 27,502,910 (GRCm39) |
Q169K |
possibly damaging |
Het |
| Psmd14 |
G |
A |
2: 61,591,335 (GRCm39) |
R46H |
probably damaging |
Het |
| Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
| Ramp2 |
A |
G |
11: 101,138,408 (GRCm39) |
T22A |
probably benign |
Het |
| Rbm19 |
AGAGGAGGAGGAGGAGGAGGA |
AGAGGAGGAGGAGGAGGA |
5: 120,278,345 (GRCm39) |
|
probably benign |
Het |
| Rbm25 |
A |
T |
12: 83,715,219 (GRCm39) |
E463D |
possibly damaging |
Het |
| Retnlb |
A |
G |
16: 48,637,678 (GRCm39) |
I35V |
probably benign |
Het |
| Sestd1 |
A |
G |
2: 77,071,976 (GRCm39) |
Y49H |
probably damaging |
Het |
| Setd2 |
T |
A |
9: 110,431,306 (GRCm39) |
I2378N |
probably damaging |
Het |
| Slc26a1 |
A |
T |
5: 108,819,740 (GRCm39) |
C486* |
probably null |
Het |
| Spef2 |
T |
A |
15: 9,667,316 (GRCm39) |
I791F |
probably damaging |
Het |
| Sptb |
T |
C |
12: 76,650,798 (GRCm39) |
T1726A |
possibly damaging |
Het |
| Stk38l |
T |
A |
6: 146,673,129 (GRCm39) |
M296K |
probably benign |
Het |
| Taf5 |
T |
C |
19: 47,070,285 (GRCm39) |
F624L |
probably damaging |
Het |
| Tmem30c |
G |
T |
16: 57,086,855 (GRCm39) |
T316K |
probably damaging |
Het |
| Trpm2 |
A |
G |
10: 77,778,839 (GRCm39) |
S376P |
possibly damaging |
Het |
| Vmn2r82 |
A |
T |
10: 79,214,702 (GRCm39) |
L228F |
probably damaging |
Het |
| Zfp607b |
G |
A |
7: 27,398,087 (GRCm39) |
C57Y |
possibly damaging |
Het |
| Zfp983 |
A |
G |
17: 21,881,269 (GRCm39) |
H399R |
probably damaging |
Het |
| Zfp984 |
A |
T |
4: 147,840,002 (GRCm39) |
M283K |
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 |
|
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'- AGTGCTGAGGGACTTAAGGGATCTG -3'
(R):5'- GATTCTCCCGAGCATAAGACCACTG -3'
Sequencing Primer
(F):5'- GACTTAAGGGATCTGTCAGCTAC -3'
(R):5'- GCATAAGACCACTGGACTCTATAGC -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation