Incidental Mutation 'R2159:Cpd'
| ID |
235063 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cpd
|
| Ensembl Gene |
ENSMUSG00000020841 |
| Gene Name |
carboxypeptidase D |
| Synonyms |
D830034L15Rik |
| MMRRC Submission |
040162-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.922)
|
| Stock # |
R2159 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
76669250-76737844 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 76688467 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 935
(D935G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021201
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021201]
|
| AlphaFold |
O89001 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000021201
AA Change: D935G
PolyPhen 2
Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000021201
Gene: ENSMUSG00000020841
AA Change: D935G
| 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: 98.6%
- 10x: 97.4%
- 20x: 95.3%
|
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam21 |
G |
A |
12: 81,607,241 (GRCm39) |
P174S |
probably benign |
Het |
| Aida |
C |
T |
1: 183,103,234 (GRCm39) |
P185S |
probably benign |
Het |
| Alg11 |
T |
G |
8: 22,555,861 (GRCm39) |
I374R |
probably benign |
Het |
| Ano9 |
T |
C |
7: 140,688,030 (GRCm39) |
I229V |
probably benign |
Het |
| Apob |
A |
T |
12: 8,060,081 (GRCm39) |
L2821F |
probably benign |
Het |
| Atp10b |
C |
T |
11: 43,042,680 (GRCm39) |
T80I |
possibly damaging |
Het |
| BC024139 |
T |
C |
15: 76,005,688 (GRCm39) |
H478R |
probably damaging |
Het |
| Btbd1 |
A |
T |
7: 81,450,804 (GRCm39) |
D325E |
possibly damaging |
Het |
| Camk2a |
G |
A |
18: 61,090,257 (GRCm39) |
C199Y |
probably damaging |
Het |
| Casp3 |
A |
G |
8: 47,087,323 (GRCm39) |
D90G |
probably damaging |
Het |
| Ccnt2 |
A |
G |
1: 127,702,891 (GRCm39) |
H71R |
probably benign |
Het |
| Cdk2ap1 |
G |
A |
5: 124,486,667 (GRCm39) |
R65* |
probably null |
Het |
| Cebpb |
G |
T |
2: 167,531,173 (GRCm39) |
A78S |
probably benign |
Het |
| Col5a3 |
A |
G |
9: 20,682,606 (GRCm39) |
F1613L |
unknown |
Het |
| Csmd3 |
CCTTTGCGCTT |
CCTT |
15: 47,604,632 (GRCm39) |
|
probably null |
Het |
| Cwc27 |
A |
G |
13: 104,940,837 (GRCm39) |
I174T |
probably damaging |
Het |
| Cyp21a1 |
C |
A |
17: 35,021,378 (GRCm39) |
R331L |
probably benign |
Het |
| Dnah5 |
A |
G |
15: 28,252,691 (GRCm39) |
T795A |
probably benign |
Het |
| Eif2ak2 |
A |
G |
17: 79,181,447 (GRCm39) |
V100A |
possibly damaging |
Het |
| Foxa3 |
A |
G |
7: 18,748,109 (GRCm39) |
V339A |
probably benign |
Het |
| Gp2 |
T |
C |
7: 119,051,507 (GRCm39) |
D236G |
probably benign |
Het |
| Gprc6a |
CAAA |
CA |
10: 51,491,776 (GRCm39) |
|
probably null |
Het |
| Gzmd |
T |
A |
14: 56,368,153 (GRCm39) |
H102L |
probably damaging |
Het |
| Klk1b1 |
A |
T |
7: 43,619,857 (GRCm39) |
I139F |
probably damaging |
Het |
| Lcmt2 |
G |
A |
2: 120,969,766 (GRCm39) |
P439L |
probably damaging |
Het |
| Loxl4 |
C |
T |
19: 42,588,446 (GRCm39) |
A570T |
probably damaging |
Het |
| Mga |
T |
A |
2: 119,750,124 (GRCm39) |
H674Q |
probably damaging |
Het |
| Mybpc3 |
A |
T |
2: 90,955,715 (GRCm39) |
K583M |
probably damaging |
Het |
| Ncoa6 |
G |
T |
2: 155,249,633 (GRCm39) |
P1224T |
probably damaging |
Het |
| Nostrin |
A |
G |
2: 69,011,266 (GRCm39) |
|
probably null |
Het |
| Or13e8 |
T |
C |
4: 43,697,110 (GRCm39) |
H21R |
probably benign |
Het |
| Or4c3 |
A |
T |
2: 89,851,882 (GRCm39) |
V176E |
probably damaging |
Het |
| Oxsr1 |
A |
C |
9: 119,133,880 (GRCm39) |
D58E |
possibly damaging |
Het |
| Parm1 |
A |
G |
5: 91,760,923 (GRCm39) |
Y265C |
probably damaging |
Het |
| Phf10 |
C |
T |
17: 15,172,926 (GRCm39) |
E304K |
probably damaging |
Het |
| Prmt5 |
T |
C |
14: 54,752,795 (GRCm39) |
T139A |
probably benign |
Het |
| Ptgir |
A |
G |
7: 16,640,794 (GRCm39) |
M29V |
possibly damaging |
Het |
| Ptp4a3 |
A |
G |
15: 73,623,865 (GRCm39) |
T32A |
probably benign |
Het |
| Pwwp2b |
A |
T |
7: 138,834,844 (GRCm39) |
D95V |
possibly damaging |
Het |
| Rad51ap2 |
T |
C |
12: 11,507,752 (GRCm39) |
L558S |
possibly damaging |
Het |
| Rapgef4 |
A |
G |
2: 72,005,225 (GRCm39) |
D80G |
probably damaging |
Het |
| Sec24a |
T |
G |
11: 51,603,177 (GRCm39) |
H757P |
probably damaging |
Het |
| Sema4d |
T |
C |
13: 51,874,571 (GRCm39) |
N129D |
probably damaging |
Het |
| Serpini1 |
A |
G |
3: 75,531,251 (GRCm39) |
T323A |
probably benign |
Het |
| Setd1a |
G |
A |
7: 127,384,661 (GRCm39) |
R504H |
possibly damaging |
Het |
| Sftpb |
T |
C |
6: 72,286,770 (GRCm39) |
C226R |
probably damaging |
Het |
| Sp8 |
T |
C |
12: 118,812,441 (GRCm39) |
S99P |
possibly damaging |
Het |
| Srgap3 |
A |
G |
6: 112,748,339 (GRCm39) |
F438L |
probably damaging |
Het |
| Stim2 |
T |
C |
5: 54,267,156 (GRCm39) |
Y365H |
probably damaging |
Het |
| Stk36 |
A |
G |
1: 74,673,896 (GRCm39) |
Q1263R |
probably benign |
Het |
| Tectb |
C |
G |
19: 55,169,431 (GRCm39) |
|
probably benign |
Het |
| Troap |
G |
T |
15: 98,975,467 (GRCm39) |
A184S |
probably damaging |
Het |
| Ttn |
G |
A |
2: 76,729,671 (GRCm39) |
|
probably benign |
Het |
| Vmn2r108 |
C |
A |
17: 20,689,363 (GRCm39) |
A531S |
probably benign |
Het |
| Vmn2r12 |
T |
A |
5: 109,239,340 (GRCm39) |
I408F |
probably benign |
Het |
| Vmn2r8 |
T |
A |
5: 108,950,169 (GRCm39) |
E226V |
probably benign |
Het |
| Vmo1 |
A |
G |
11: 70,404,608 (GRCm39) |
F131S |
probably benign |
Het |
| Vwf |
T |
C |
6: 125,603,304 (GRCm39) |
F885L |
probably damaging |
Het |
| Wdpcp |
A |
T |
11: 21,807,476 (GRCm39) |
M618L |
probably benign |
Het |
| Wdr90 |
T |
C |
17: 26,070,715 (GRCm39) |
E1072G |
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 |
|
|
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'- AGTTTCCGGCAATGCACAAG -3'
(R):5'- TCAGCAGATGCAAACAATGAGTC -3'
Sequencing Primer
(F):5'- GTCCTTGTGAAATAAGACTCCAACTC -3'
(R):5'- TGCAAACAATGAGTCAAAGAAAGGC -3'
|
| Posted On |
2014-10-01 |
Incidental Mutation