Incidental Mutation 'R4133:Cpd'
| ID |
314756 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cpd
|
| Ensembl Gene |
ENSMUSG00000020841 |
| Gene Name |
carboxypeptidase D |
| Synonyms |
D830034L15Rik |
| MMRRC Submission |
041637-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.928)
|
| Stock # |
R4133 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
76669250-76737844 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 76705644 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 363
(Q363*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021201
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021201]
|
| AlphaFold |
O89001 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000021201
AA Change: Q363*
|
| SMART Domains |
Protein: ENSMUSP00000021201
Gene: ENSMUSG00000020841
AA Change: Q363*
| 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 |
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
97% (77/79) |
| 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: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700036A12Rik |
T |
A |
9: 60,677,280 (GRCm39) |
|
noncoding transcript |
Het |
| Aldh3b1 |
A |
G |
19: 3,970,808 (GRCm39) |
I184T |
probably damaging |
Het |
| Arhgap42 |
C |
T |
9: 9,011,300 (GRCm39) |
|
probably benign |
Het |
| Arhgef4 |
A |
G |
1: 34,845,185 (GRCm39) |
D1463G |
probably damaging |
Het |
| Arpc5 |
A |
G |
1: 152,644,622 (GRCm39) |
T52A |
probably benign |
Het |
| Asb6 |
A |
G |
2: 30,718,247 (GRCm39) |
|
probably benign |
Het |
| Ash1l |
T |
C |
3: 88,889,567 (GRCm39) |
V482A |
probably benign |
Het |
| Bop1 |
T |
C |
15: 76,338,535 (GRCm39) |
N469S |
probably benign |
Het |
| Btaf1 |
T |
A |
19: 36,939,138 (GRCm39) |
N266K |
probably benign |
Het |
| Btla |
T |
C |
16: 45,059,661 (GRCm39) |
Y122H |
probably damaging |
Het |
| Cacna1g |
A |
G |
11: 94,323,370 (GRCm39) |
M1278T |
probably damaging |
Het |
| Cdc42bpb |
A |
G |
12: 111,287,976 (GRCm39) |
S524P |
probably benign |
Het |
| Cep78 |
A |
G |
19: 15,946,519 (GRCm39) |
S438P |
probably damaging |
Het |
| Clca4a |
T |
G |
3: 144,675,113 (GRCm39) |
E171D |
probably benign |
Het |
| Cldn6 |
A |
T |
17: 23,900,467 (GRCm39) |
I144F |
probably damaging |
Het |
| Cpn1 |
G |
A |
19: 43,974,723 (GRCm39) |
P2L |
possibly damaging |
Het |
| Ddx31 |
A |
G |
2: 28,748,864 (GRCm39) |
D264G |
probably damaging |
Het |
| Ddx39b |
C |
T |
17: 35,472,065 (GRCm39) |
S368L |
probably damaging |
Het |
| Ddx60 |
A |
G |
8: 62,425,254 (GRCm39) |
K681E |
probably damaging |
Het |
| Dennd1c |
A |
C |
17: 57,383,980 (GRCm39) |
W15G |
possibly damaging |
Het |
| Dgkd |
T |
G |
1: 87,869,223 (GRCm39) |
|
probably null |
Het |
| Dnah7c |
G |
T |
1: 46,705,150 (GRCm39) |
A2388S |
probably benign |
Het |
| Etv4 |
C |
A |
11: 101,661,324 (GRCm39) |
K442N |
probably damaging |
Het |
| Fam234a |
T |
C |
17: 26,432,532 (GRCm39) |
D539G |
probably damaging |
Het |
| Fancm |
A |
G |
12: 65,167,304 (GRCm39) |
T1538A |
probably benign |
Het |
| Fbn2 |
A |
T |
18: 58,229,034 (GRCm39) |
N725K |
possibly damaging |
Het |
| Fcer2a |
T |
A |
8: 3,741,130 (GRCm39) |
N4I |
possibly damaging |
Het |
| Fgd5 |
T |
C |
6: 92,046,418 (GRCm39) |
V1229A |
probably damaging |
Het |
| Garin4 |
A |
T |
1: 190,895,205 (GRCm39) |
N479K |
probably benign |
Het |
| Gm5471 |
A |
T |
15: 44,835,297 (GRCm39) |
|
noncoding transcript |
Het |
| Gm5478 |
T |
A |
15: 101,553,080 (GRCm39) |
I331F |
probably damaging |
Het |
| Gm6729 |
C |
A |
10: 86,377,030 (GRCm39) |
|
noncoding transcript |
Het |
| Hectd4 |
G |
T |
5: 121,415,897 (GRCm39) |
|
probably null |
Het |
| Hspb3 |
A |
C |
13: 113,800,027 (GRCm39) |
M1R |
probably null |
Het |
| Igkv10-95 |
T |
C |
6: 68,657,601 (GRCm39) |
V19A |
probably damaging |
Het |
| Il1rap |
A |
G |
16: 26,541,636 (GRCm39) |
S626G |
probably benign |
Het |
| Ints9 |
A |
G |
14: 65,228,003 (GRCm39) |
H103R |
probably benign |
Het |
| Itga4 |
T |
A |
2: 79,152,996 (GRCm39) |
D894E |
probably damaging |
Het |
| Khsrp |
T |
C |
17: 57,332,605 (GRCm39) |
H225R |
probably benign |
Het |
| Lama1 |
T |
C |
17: 68,057,650 (GRCm39) |
Y575H |
probably damaging |
Het |
| Lama1 |
A |
T |
17: 68,119,481 (GRCm39) |
I2653F |
probably damaging |
Het |
| Map4k5 |
A |
T |
12: 69,892,497 (GRCm39) |
L144Q |
probably damaging |
Het |
| Mcm5 |
A |
G |
8: 75,842,482 (GRCm39) |
Y252C |
probably damaging |
Het |
| Mmgt2 |
A |
G |
11: 62,555,877 (GRCm39) |
E75G |
probably damaging |
Het |
| Mroh2a |
A |
T |
1: 88,182,687 (GRCm39) |
N1205I |
possibly damaging |
Het |
| Nckap5 |
A |
G |
1: 126,150,443 (GRCm39) |
V162A |
probably benign |
Het |
| Nr3c2 |
T |
C |
8: 77,636,378 (GRCm39) |
I493T |
probably damaging |
Het |
| Or2ag16 |
A |
C |
7: 106,352,286 (GRCm39) |
L103R |
probably damaging |
Het |
| Or2t46 |
A |
T |
11: 58,471,901 (GRCm39) |
Y77F |
probably damaging |
Het |
| Or9s15 |
T |
C |
1: 92,524,465 (GRCm39) |
F75L |
probably benign |
Het |
| Papola |
A |
G |
12: 105,765,917 (GRCm39) |
T6A |
possibly damaging |
Het |
| Ppp1cc |
G |
A |
5: 122,306,289 (GRCm39) |
R36Q |
probably benign |
Het |
| Ptpro |
G |
T |
6: 137,397,370 (GRCm39) |
W81C |
probably damaging |
Het |
| Rasgrf2 |
A |
G |
13: 92,130,773 (GRCm39) |
S162P |
possibly damaging |
Het |
| Rpusd2 |
T |
C |
2: 118,869,196 (GRCm39) |
S540P |
probably damaging |
Het |
| Scn5a |
T |
A |
9: 119,315,438 (GRCm39) |
T1757S |
probably damaging |
Het |
| Setbp1 |
T |
C |
18: 78,900,206 (GRCm39) |
I1154V |
probably benign |
Het |
| Sirt1 |
T |
C |
10: 63,171,438 (GRCm39) |
I209V |
probably null |
Het |
| Slco6c1 |
T |
A |
1: 97,009,218 (GRCm39) |
I406L |
probably benign |
Het |
| Smc2 |
A |
G |
4: 52,450,947 (GRCm39) |
E255G |
probably damaging |
Het |
| Snap91 |
C |
A |
9: 86,659,102 (GRCm39) |
G477V |
probably damaging |
Het |
| Speg |
A |
G |
1: 75,404,548 (GRCm39) |
Q2780R |
probably benign |
Het |
| Spmap2 |
T |
C |
10: 79,415,884 (GRCm39) |
T236A |
probably damaging |
Het |
| Ssh2 |
A |
G |
11: 77,312,095 (GRCm39) |
Y196C |
probably damaging |
Het |
| Ssxb9 |
A |
T |
X: 8,235,845 (GRCm39) |
T18S |
probably damaging |
Het |
| Stxbp5l |
T |
C |
16: 37,028,481 (GRCm39) |
I527M |
possibly damaging |
Het |
| Tex10 |
T |
C |
4: 48,468,968 (GRCm39) |
Y69C |
probably damaging |
Het |
| Thoc3 |
T |
C |
13: 54,616,361 (GRCm39) |
D87G |
probably benign |
Het |
| Top2b |
T |
G |
14: 16,409,189 (GRCm38) |
I777M |
probably damaging |
Het |
| Trps1 |
T |
C |
15: 50,694,783 (GRCm39) |
K213R |
probably damaging |
Het |
| Uggt1 |
A |
T |
1: 36,197,240 (GRCm39) |
L1221Q |
probably damaging |
Het |
| Vmn2r3 |
T |
A |
3: 64,183,138 (GRCm39) |
Y187F |
probably damaging |
Het |
| Washc2 |
G |
A |
6: 116,235,891 (GRCm39) |
E1121K |
probably damaging |
Het |
| Zfx |
T |
C |
X: 93,124,464 (GRCm39) |
N360D |
probably damaging |
Het |
| Znhit3 |
A |
G |
11: 84,807,139 (GRCm39) |
V10A |
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 |
|
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'- AGATTGTCAAAGGAGGCCC -3'
(R):5'- TTTCACCAGTCTTTGCGGG -3'
Sequencing Primer
(F):5'- GAGCTTGATGCACTCTAGTCGATC -3'
(R):5'- CAGTCTTTGCGGGAGTGGAATTC -3'
|
| Posted On |
2015-05-14 |
Incidental Mutation