Incidental Mutation 'R5524:Cpd'
| ID |
431765 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cpd
|
| Ensembl Gene |
ENSMUSG00000020841 |
| Gene Name |
carboxypeptidase D |
| Synonyms |
D830034L15Rik |
| MMRRC Submission |
043082-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.922)
|
| Stock # |
R5524 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
76669250-76737844 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 76688727 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 848
(Y848*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021201
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021201]
|
| AlphaFold |
O89001 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000021201
AA Change: Y848*
|
| SMART Domains |
Protein: ENSMUSP00000021201
Gene: ENSMUSG00000020841
AA Change: Y848*
| 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: 98.3%
- 3x: 97.3%
- 10x: 95.4%
- 20x: 91.4%
|
| Validation Efficiency |
100% (76/76) |
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700010L04Rik |
T |
A |
7: 82,503,150 (GRCm39) |
|
noncoding transcript |
Het |
| 6030469F06Rik |
A |
G |
12: 31,234,862 (GRCm39) |
|
noncoding transcript |
Het |
| A830031A19Rik |
T |
A |
11: 24,008,776 (GRCm39) |
I13F |
unknown |
Het |
| Acsbg2 |
A |
C |
17: 57,157,197 (GRCm39) |
L309R |
probably damaging |
Het |
| Adam32 |
A |
T |
8: 25,412,328 (GRCm39) |
M76K |
probably damaging |
Het |
| Adamts14 |
C |
A |
10: 61,066,222 (GRCm39) |
R297L |
probably damaging |
Het |
| Agbl5 |
G |
A |
5: 31,051,247 (GRCm39) |
|
probably null |
Het |
| Asb14 |
A |
G |
14: 26,622,408 (GRCm39) |
K80E |
possibly damaging |
Het |
| Baiap2l1 |
T |
C |
5: 144,217,759 (GRCm39) |
T276A |
probably benign |
Het |
| Cacna1d |
G |
A |
14: 29,764,086 (GRCm39) |
P2127S |
probably benign |
Het |
| Ces2g |
A |
G |
8: 105,693,527 (GRCm39) |
T403A |
probably benign |
Het |
| Cgn |
A |
C |
3: 94,687,299 (GRCm39) |
M1R |
probably null |
Het |
| Chd5 |
T |
G |
4: 152,461,087 (GRCm39) |
S1226A |
probably benign |
Het |
| Col18a1 |
A |
G |
10: 76,894,558 (GRCm39) |
V1497A |
probably damaging |
Het |
| Cyp2a12 |
T |
C |
7: 26,730,656 (GRCm39) |
V207A |
probably benign |
Het |
| Cyth1 |
G |
A |
11: 118,073,593 (GRCm39) |
R247W |
probably benign |
Het |
| Derl3 |
T |
C |
10: 75,730,324 (GRCm39) |
V129A |
possibly damaging |
Het |
| Ehmt2 |
C |
T |
17: 35,118,067 (GRCm39) |
R40* |
probably null |
Het |
| Eml1 |
A |
T |
12: 108,487,635 (GRCm39) |
I518L |
probably damaging |
Het |
| Eri1 |
A |
G |
8: 35,945,763 (GRCm39) |
V174A |
probably benign |
Het |
| Fgd3 |
T |
A |
13: 49,431,053 (GRCm39) |
I435F |
probably damaging |
Het |
| Foxd1 |
T |
G |
13: 98,492,412 (GRCm39) |
S429A |
unknown |
Het |
| Ftcd |
T |
A |
10: 76,425,165 (GRCm39) |
|
probably benign |
Het |
| Gm5478 |
G |
T |
15: 101,553,102 (GRCm39) |
N323K |
probably benign |
Het |
| Gnpda1 |
G |
T |
18: 38,468,161 (GRCm39) |
P45Q |
probably damaging |
Het |
| Kif20a |
G |
T |
18: 34,763,678 (GRCm39) |
|
probably null |
Het |
| Klrb1 |
T |
C |
6: 128,689,296 (GRCm39) |
|
probably null |
Het |
| Lcorl |
C |
A |
5: 45,932,864 (GRCm39) |
|
probably null |
Het |
| Lcorl |
T |
A |
5: 45,932,865 (GRCm39) |
|
probably null |
Het |
| Lrp1b |
T |
A |
2: 41,000,900 (GRCm39) |
K2108M |
probably damaging |
Het |
| Lyst |
C |
T |
13: 13,921,364 (GRCm39) |
P3437S |
probably benign |
Het |
| Macrod2 |
A |
T |
2: 142,159,863 (GRCm39) |
M349L |
possibly damaging |
Het |
| Marchf7 |
T |
C |
2: 60,075,647 (GRCm39) |
|
probably benign |
Het |
| Mcm9 |
A |
T |
10: 53,424,786 (GRCm39) |
C601* |
probably null |
Het |
| Muc19 |
G |
T |
15: 91,778,587 (GRCm39) |
|
noncoding transcript |
Het |
| Mycbp2 |
T |
C |
14: 103,532,673 (GRCm39) |
D427G |
probably damaging |
Het |
| Nap1l5 |
C |
A |
6: 58,883,763 (GRCm39) |
V64L |
possibly damaging |
Het |
| Ncam2 |
C |
T |
16: 81,231,766 (GRCm39) |
R77* |
probably null |
Het |
| Npas3 |
T |
C |
12: 54,115,721 (GRCm39) |
V863A |
possibly damaging |
Het |
| Nr2c2 |
T |
A |
6: 92,116,746 (GRCm39) |
|
probably null |
Het |
| Oosp3 |
T |
C |
19: 11,682,794 (GRCm39) |
F56S |
possibly damaging |
Het |
| Or1a1b |
A |
T |
11: 74,097,409 (GRCm39) |
L211Q |
probably damaging |
Het |
| Or5k17 |
C |
T |
16: 58,746,172 (GRCm39) |
C254Y |
probably benign |
Het |
| Or8g20 |
C |
T |
9: 39,396,283 (GRCm39) |
V89M |
probably damaging |
Het |
| Plgrkt |
G |
A |
19: 29,327,850 (GRCm39) |
P78S |
probably damaging |
Het |
| Prss36 |
G |
A |
7: 127,533,637 (GRCm39) |
Q56* |
probably null |
Het |
| Ptprz1 |
A |
G |
6: 22,986,317 (GRCm39) |
|
probably null |
Het |
| Qsox2 |
A |
T |
2: 26,107,699 (GRCm39) |
F265I |
probably damaging |
Het |
| R3hcc1l |
G |
T |
19: 42,552,307 (GRCm39) |
E435* |
probably null |
Het |
| Shbg |
T |
C |
11: 69,507,588 (GRCm39) |
D163G |
probably benign |
Het |
| Skint7 |
T |
A |
4: 111,837,546 (GRCm39) |
L108H |
probably damaging |
Het |
| Smtnl1 |
T |
A |
2: 84,649,238 (GRCm39) |
E5D |
probably benign |
Het |
| Spock1 |
C |
T |
13: 57,704,608 (GRCm39) |
G120D |
probably damaging |
Het |
| Stk11ip |
G |
T |
1: 75,508,971 (GRCm39) |
C700F |
probably damaging |
Het |
| Sult4a1 |
C |
T |
15: 83,974,159 (GRCm39) |
|
probably null |
Het |
| Syngap1 |
A |
G |
17: 27,176,126 (GRCm39) |
H138R |
probably damaging |
Het |
| Tdrd7 |
A |
G |
4: 46,034,301 (GRCm39) |
K1016E |
probably benign |
Het |
| Tmem167b |
T |
C |
3: 108,467,569 (GRCm39) |
K26E |
possibly damaging |
Het |
| Tnfaip3 |
A |
G |
10: 18,883,943 (GRCm39) |
S146P |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,607,060 (GRCm39) |
V16242I |
possibly damaging |
Het |
| Vmn2r-ps3 |
T |
A |
3: 63,960,870 (GRCm39) |
|
noncoding transcript |
Het |
| Vps13c |
T |
C |
9: 67,864,838 (GRCm39) |
F3049S |
probably damaging |
Het |
| Vstm2l |
T |
C |
2: 157,777,355 (GRCm39) |
W78R |
probably damaging |
Het |
| Wbp1l |
C |
A |
19: 46,642,695 (GRCm39) |
A216D |
possibly damaging |
Het |
| Zer1 |
C |
G |
2: 29,994,866 (GRCm39) |
V510L |
probably damaging |
Het |
| Zfp28 |
A |
T |
7: 6,397,850 (GRCm39) |
|
probably null |
Het |
| Zfp352 |
C |
A |
4: 90,113,341 (GRCm39) |
P494T |
possibly damaging |
Het |
| Zfp353-ps |
A |
G |
8: 42,535,600 (GRCm39) |
|
noncoding transcript |
Het |
| Zfp563 |
A |
T |
17: 33,321,515 (GRCm39) |
|
probably null |
Het |
| Zim1 |
T |
C |
7: 6,680,320 (GRCm39) |
N448D |
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 |
|
|
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 |
|
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'- CGAAAGGTGTTTGATTAATGCTTCA -3'
(R):5'- TGCAATAAGCTCAAACTTGCAT -3'
Sequencing Primer
(F):5'- CAAACTCCTTAGAAGTTGGGTCGC -3'
(R):5'- TTCCCAGTGCTGGAATAC -3'
|
| Posted On |
2016-10-05 |
Incidental Mutation