Incidental Mutation 'R2680:Cpd'
| ID |
250946 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cpd
|
| Ensembl Gene |
ENSMUSG00000020841 |
| Gene Name |
carboxypeptidase D |
| Synonyms |
D830034L15Rik |
| MMRRC Submission |
040433-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.922)
|
| Stock # |
R2680 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
76669250-76737844 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 76681825 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 1140
(N1140K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021201
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021201]
|
| AlphaFold |
O89001 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021201
AA Change: N1140K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000021201
Gene: ENSMUSG00000020841
AA Change: N1140K
| 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: ENSMUST00000151584
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| BC024139 |
A |
G |
15: 76,005,939 (GRCm39) |
W421R |
probably damaging |
Het |
| Car11 |
T |
C |
7: 45,351,909 (GRCm39) |
S113P |
probably benign |
Het |
| Ccdc146 |
C |
T |
5: 21,510,267 (GRCm39) |
A582T |
possibly damaging |
Het |
| Cct8l1 |
A |
G |
5: 25,722,133 (GRCm39) |
T283A |
probably benign |
Het |
| Ckap5 |
A |
G |
2: 91,419,043 (GRCm39) |
I1118V |
probably benign |
Het |
| Copa |
C |
T |
1: 171,948,971 (GRCm39) |
Q1199* |
probably null |
Het |
| Cspp1 |
A |
G |
1: 10,174,530 (GRCm39) |
D661G |
probably damaging |
Het |
| Dab2 |
A |
G |
15: 6,466,474 (GRCm39) |
Q729R |
possibly damaging |
Het |
| Dnah9 |
T |
C |
11: 65,924,751 (GRCm39) |
I2168V |
probably benign |
Het |
| Dync1h1 |
G |
A |
12: 110,609,681 (GRCm39) |
R2821H |
probably damaging |
Het |
| Ercc5 |
T |
C |
1: 44,196,133 (GRCm39) |
V42A |
probably benign |
Het |
| Evc |
A |
G |
5: 37,467,581 (GRCm39) |
V566A |
probably benign |
Het |
| Fcrl2 |
T |
C |
3: 87,164,656 (GRCm39) |
Y290C |
probably damaging |
Het |
| Frmd4a |
A |
G |
2: 4,539,364 (GRCm39) |
R171G |
probably damaging |
Het |
| Galnt17 |
G |
A |
5: 131,140,661 (GRCm39) |
P152L |
probably damaging |
Het |
| Gfi1 |
A |
G |
5: 107,869,297 (GRCm39) |
L245P |
probably damaging |
Het |
| Heatr4 |
T |
C |
12: 84,027,237 (GRCm39) |
K7E |
possibly damaging |
Het |
| Ifit3b |
A |
G |
19: 34,589,705 (GRCm39) |
N294D |
probably benign |
Het |
| Ift74 |
A |
G |
4: 94,541,265 (GRCm39) |
Y230C |
probably damaging |
Het |
| Igsf10 |
C |
T |
3: 59,232,875 (GRCm39) |
V1953I |
probably benign |
Het |
| Ikzf5 |
T |
C |
7: 130,998,490 (GRCm39) |
D14G |
probably damaging |
Het |
| Il12rb2 |
T |
A |
6: 67,331,789 (GRCm39) |
T259S |
possibly damaging |
Het |
| Itgae |
T |
A |
11: 73,005,752 (GRCm39) |
D305E |
probably damaging |
Het |
| Kif23 |
A |
C |
9: 61,844,758 (GRCm39) |
D90E |
probably benign |
Het |
| Kprp |
A |
G |
3: 92,731,770 (GRCm39) |
F427L |
unknown |
Het |
| Lmnb1 |
T |
A |
18: 56,864,177 (GRCm39) |
Y261N |
probably damaging |
Het |
| Megf8 |
T |
C |
7: 25,016,981 (GRCm39) |
V17A |
probably benign |
Het |
| Mfap4 |
T |
C |
11: 61,378,057 (GRCm39) |
Y190H |
probably benign |
Het |
| Mlh1 |
T |
C |
9: 111,065,085 (GRCm39) |
|
probably null |
Het |
| Mocos |
C |
A |
18: 24,809,686 (GRCm39) |
Q430K |
probably damaging |
Het |
| Ndst2 |
A |
G |
14: 20,774,822 (GRCm39) |
F794L |
probably damaging |
Het |
| Nedd4l |
A |
T |
18: 65,296,201 (GRCm39) |
I197F |
possibly damaging |
Het |
| Nefm |
A |
G |
14: 68,361,235 (GRCm39) |
L343P |
probably damaging |
Het |
| Nfatc4 |
A |
G |
14: 56,070,291 (GRCm39) |
|
probably benign |
Het |
| Nlrp4a |
T |
A |
7: 26,148,655 (GRCm39) |
|
probably null |
Het |
| Nlrp4f |
A |
T |
13: 65,342,157 (GRCm39) |
L496* |
probably null |
Het |
| Nom1 |
T |
C |
5: 29,648,415 (GRCm39) |
F654S |
probably damaging |
Het |
| Or4k2 |
A |
T |
14: 50,424,304 (GRCm39) |
Y123* |
probably null |
Het |
| Pcdhac2 |
A |
G |
18: 37,278,639 (GRCm39) |
K540E |
possibly damaging |
Het |
| Pde4dip |
T |
C |
3: 97,608,933 (GRCm39) |
N1974S |
possibly damaging |
Het |
| Pik3c3 |
T |
C |
18: 30,477,131 (GRCm39) |
|
probably null |
Het |
| Pik3ca |
C |
T |
3: 32,490,697 (GRCm39) |
R115* |
probably null |
Het |
| Pik3ca |
T |
C |
3: 32,498,034 (GRCm39) |
I492T |
probably benign |
Het |
| Ppp1ca |
G |
A |
19: 4,244,594 (GRCm39) |
E218K |
possibly damaging |
Het |
| Prex1 |
G |
T |
2: 166,443,692 (GRCm39) |
D492E |
possibly damaging |
Het |
| Scaf8 |
T |
C |
17: 3,247,866 (GRCm39) |
V1063A |
possibly damaging |
Het |
| Scn3a |
G |
T |
2: 65,366,880 (GRCm39) |
N47K |
probably benign |
Het |
| Sec61a2 |
G |
T |
2: 5,878,556 (GRCm39) |
N348K |
probably benign |
Het |
| Sh3rf2 |
A |
G |
18: 42,234,715 (GRCm39) |
E166G |
probably damaging |
Het |
| Slc19a2 |
C |
A |
1: 164,076,982 (GRCm39) |
T54K |
probably damaging |
Het |
| Slc8a3 |
T |
A |
12: 81,249,113 (GRCm39) |
I765F |
probably damaging |
Het |
| Snap91 |
A |
T |
9: 86,761,603 (GRCm39) |
M1K |
probably null |
Het |
| Spef1l |
T |
C |
7: 139,558,474 (GRCm39) |
D41G |
probably damaging |
Het |
| Strc |
T |
C |
2: 121,195,592 (GRCm39) |
H1619R |
probably damaging |
Het |
| Tbl1xr1 |
C |
T |
3: 22,245,615 (GRCm39) |
T207M |
possibly damaging |
Het |
| Tchp |
T |
C |
5: 114,847,580 (GRCm39) |
|
probably null |
Het |
| Tln1 |
A |
T |
4: 43,539,668 (GRCm39) |
F1581Y |
probably damaging |
Het |
| Tnxb |
T |
C |
17: 34,922,594 (GRCm39) |
V2469A |
possibly damaging |
Het |
| Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
| Vmn1r225 |
T |
A |
17: 20,723,055 (GRCm39) |
F165L |
probably benign |
Het |
| Vmn2r13 |
T |
C |
5: 109,322,178 (GRCm39) |
D173G |
possibly damaging |
Het |
| Vmn2r6 |
A |
C |
3: 64,445,707 (GRCm39) |
S673A |
possibly damaging |
Het |
| Vta1 |
G |
A |
10: 14,581,171 (GRCm39) |
|
probably benign |
Het |
| Wwc1 |
T |
C |
11: 35,766,756 (GRCm39) |
T500A |
probably benign |
Het |
| Zfp784 |
T |
A |
7: 5,039,116 (GRCm39) |
Q147H |
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 |
|
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'- ATACCTTCATGCTGCCCAGG -3'
(R):5'- ACTTCTCAGTAAACTTCAGTGGG -3'
Sequencing Primer
(F):5'- AGGTGACTGTGCCACTCG -3'
(R):5'- CTCAGTAAACTTCAGTGGGTGCAG -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation