Incidental Mutation 'R1472:Cpd'
| ID |
165020 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cpd
|
| Ensembl Gene |
ENSMUSG00000020841 |
| Gene Name |
carboxypeptidase D |
| Synonyms |
D830034L15Rik |
| MMRRC Submission |
039525-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.922)
|
| Stock # |
R1472 (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 G
at 76675224 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 1299
(V1299A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021201
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021201]
|
| AlphaFold |
O89001 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000021201
AA Change: V1299A
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000021201
Gene: ENSMUSG00000020841
AA Change: V1299A
| 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
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.0%
- 20x: 92.0%
|
| 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: 84 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
C |
T |
3: 137,773,313 (GRCm39) |
T834M |
possibly damaging |
Het |
| Ak1 |
T |
C |
2: 32,520,313 (GRCm39) |
L32P |
probably damaging |
Het |
| Ankrd24 |
A |
G |
10: 81,470,754 (GRCm39) |
D61G |
probably damaging |
Het |
| Atp13a2 |
T |
C |
4: 140,721,113 (GRCm39) |
S99P |
probably damaging |
Het |
| Atp8a2 |
T |
C |
14: 60,097,719 (GRCm39) |
K770E |
probably benign |
Het |
| Bmp10 |
A |
G |
6: 87,410,779 (GRCm39) |
I191V |
probably benign |
Het |
| C2cd6 |
A |
T |
1: 59,106,944 (GRCm39) |
S294T |
possibly damaging |
Het |
| C4b |
T |
A |
17: 34,962,743 (GRCm39) |
K20* |
probably null |
Het |
| Caps2 |
C |
T |
10: 112,015,377 (GRCm39) |
T139I |
probably benign |
Het |
| Cdc25a |
T |
C |
9: 109,705,157 (GRCm39) |
S34P |
probably benign |
Het |
| Cenpv |
T |
C |
11: 62,427,121 (GRCm39) |
I146V |
probably benign |
Het |
| Cep57 |
A |
T |
9: 13,732,850 (GRCm39) |
F32I |
probably benign |
Het |
| Cep85 |
A |
G |
4: 133,894,711 (GRCm39) |
W32R |
probably damaging |
Het |
| Cntrl |
T |
C |
2: 35,059,329 (GRCm39) |
|
probably null |
Het |
| Cpne6 |
T |
C |
14: 55,752,092 (GRCm39) |
V283A |
probably benign |
Het |
| Crot |
A |
G |
5: 9,016,941 (GRCm39) |
C584R |
probably damaging |
Het |
| Ctsc |
A |
C |
7: 87,930,670 (GRCm39) |
H83P |
possibly damaging |
Het |
| Dido1 |
T |
C |
2: 180,302,513 (GRCm39) |
N1797S |
probably benign |
Het |
| Dlgap4 |
C |
T |
2: 156,602,821 (GRCm39) |
Q148* |
probably null |
Het |
| Dnah3 |
T |
C |
7: 119,670,181 (GRCm39) |
D688G |
probably benign |
Het |
| Dnmt1 |
T |
C |
9: 20,843,472 (GRCm39) |
E138G |
probably benign |
Het |
| Edc4 |
T |
A |
8: 106,619,460 (GRCm39) |
M1396K |
probably damaging |
Het |
| Haao |
T |
A |
17: 84,146,267 (GRCm39) |
Q69L |
probably benign |
Het |
| Hsd3b6 |
A |
T |
3: 98,715,255 (GRCm39) |
|
probably null |
Het |
| Itpr3 |
T |
A |
17: 27,333,199 (GRCm39) |
I1937N |
probably benign |
Het |
| Kcnk15 |
C |
A |
2: 163,700,127 (GRCm39) |
T103K |
probably damaging |
Het |
| Kifc3 |
A |
G |
8: 95,864,541 (GRCm39) |
|
probably null |
Het |
| Lama3 |
T |
A |
18: 12,615,102 (GRCm39) |
F1342Y |
probably benign |
Het |
| Lilra6 |
A |
T |
7: 3,915,718 (GRCm39) |
M98K |
probably damaging |
Het |
| Map3k21 |
T |
C |
8: 126,668,417 (GRCm39) |
S668P |
probably benign |
Het |
| Mcpt8 |
T |
C |
14: 56,319,791 (GRCm39) |
T220A |
probably benign |
Het |
| Mettl13 |
C |
T |
1: 162,364,736 (GRCm39) |
V548I |
possibly damaging |
Het |
| Mfsd4b4 |
A |
G |
10: 39,767,860 (GRCm39) |
M411T |
probably benign |
Het |
| Mrfap1 |
A |
G |
5: 36,953,817 (GRCm39) |
S41P |
possibly damaging |
Het |
| Mroh2b |
A |
G |
15: 4,978,137 (GRCm39) |
I1302V |
probably benign |
Het |
| Mrpl45 |
C |
T |
11: 97,214,681 (GRCm39) |
R123* |
probably null |
Het |
| Mstn |
T |
A |
1: 53,101,157 (GRCm39) |
I78K |
probably damaging |
Het |
| Mtdh |
T |
C |
15: 34,114,191 (GRCm39) |
S168P |
possibly damaging |
Het |
| Muc15 |
G |
T |
2: 110,561,905 (GRCm39) |
V114F |
probably damaging |
Het |
| Muc6 |
T |
C |
7: 141,238,144 (GRCm39) |
E112G |
probably benign |
Het |
| Myocd |
G |
T |
11: 65,078,330 (GRCm39) |
H360Q |
probably benign |
Het |
| Naip2 |
C |
T |
13: 100,298,368 (GRCm39) |
G556D |
probably benign |
Het |
| Nav3 |
T |
C |
10: 109,563,802 (GRCm39) |
E1627G |
probably damaging |
Het |
| Nlrp14 |
T |
C |
7: 106,781,910 (GRCm39) |
L369P |
probably benign |
Het |
| Nlrp6 |
A |
G |
7: 140,503,408 (GRCm39) |
T505A |
probably damaging |
Het |
| Npbwr1 |
T |
C |
1: 5,986,900 (GRCm39) |
S205G |
probably damaging |
Het |
| Nsmaf |
G |
A |
4: 6,423,448 (GRCm39) |
R307* |
probably null |
Het |
| Or5h19 |
A |
T |
16: 58,856,920 (GRCm39) |
L60Q |
probably damaging |
Het |
| Or9i1b |
T |
C |
19: 13,897,208 (GRCm39) |
S275P |
probably damaging |
Het |
| Parp9 |
T |
G |
16: 35,774,050 (GRCm39) |
S341A |
possibly damaging |
Het |
| Pdss2 |
A |
G |
10: 43,289,533 (GRCm39) |
N346S |
probably benign |
Het |
| Pikfyve |
T |
A |
1: 65,263,360 (GRCm39) |
F503Y |
probably damaging |
Het |
| Polr1e |
G |
T |
4: 45,028,026 (GRCm39) |
A290S |
probably damaging |
Het |
| Ppp1r21 |
A |
T |
17: 88,866,033 (GRCm39) |
H305L |
probably damaging |
Het |
| Prss47 |
A |
G |
13: 65,197,103 (GRCm39) |
L117P |
probably damaging |
Het |
| Psmb2 |
A |
G |
4: 126,580,825 (GRCm39) |
Y73C |
probably damaging |
Het |
| Rcn2 |
C |
T |
9: 55,963,537 (GRCm39) |
P222L |
probably benign |
Het |
| Rnf144b |
T |
C |
13: 47,396,361 (GRCm39) |
Y233H |
probably damaging |
Het |
| Rnf17 |
T |
C |
14: 56,665,436 (GRCm39) |
L196P |
probably damaging |
Het |
| Sik2 |
A |
G |
9: 50,920,111 (GRCm39) |
I22T |
probably damaging |
Het |
| Sis |
A |
G |
3: 72,796,360 (GRCm39) |
V1807A |
probably benign |
Het |
| Slc1a2 |
T |
A |
2: 102,568,254 (GRCm39) |
I88N |
probably damaging |
Het |
| Slc22a22 |
A |
G |
15: 57,110,916 (GRCm39) |
F437S |
probably benign |
Het |
| Slc39a13 |
A |
T |
2: 90,899,050 (GRCm39) |
C20* |
probably null |
Het |
| Sos2 |
C |
T |
12: 69,632,090 (GRCm39) |
|
probably null |
Het |
| Sst |
A |
G |
16: 23,709,448 (GRCm39) |
V16A |
probably benign |
Het |
| Stab1 |
C |
T |
14: 30,863,543 (GRCm39) |
G2073D |
probably benign |
Het |
| Stxbp1 |
A |
T |
2: 32,684,648 (GRCm39) |
S594T |
probably benign |
Het |
| Sugct |
A |
T |
13: 17,627,131 (GRCm39) |
C241S |
probably benign |
Het |
| Svil |
T |
A |
18: 5,048,950 (GRCm39) |
C76S |
probably benign |
Het |
| Tcaf1 |
A |
G |
6: 42,663,382 (GRCm39) |
V166A |
possibly damaging |
Het |
| Tmem131 |
A |
T |
1: 36,855,322 (GRCm39) |
N801K |
possibly damaging |
Het |
| Tox3 |
T |
C |
8: 90,980,973 (GRCm39) |
N277S |
probably damaging |
Het |
| Tril |
G |
T |
6: 53,795,012 (GRCm39) |
R737S |
probably damaging |
Het |
| Trpm2 |
C |
A |
10: 77,801,841 (GRCm39) |
V75L |
probably damaging |
Het |
| Tshz1 |
A |
C |
18: 84,031,930 (GRCm39) |
L826R |
possibly damaging |
Het |
| Ttn |
C |
T |
2: 76,597,196 (GRCm39) |
V19906I |
probably damaging |
Het |
| Wnt5a |
C |
T |
14: 28,240,461 (GRCm39) |
R184* |
probably null |
Het |
| Wnt5b |
G |
A |
6: 119,410,442 (GRCm39) |
R333C |
probably damaging |
Het |
| Zbtb6 |
T |
C |
2: 37,319,356 (GRCm39) |
T191A |
probably benign |
Het |
| Zc3h4 |
A |
G |
7: 16,168,695 (GRCm39) |
N935D |
unknown |
Het |
| Zc3h7a |
C |
T |
16: 10,978,890 (GRCm39) |
R95H |
probably damaging |
Het |
| Zfp110 |
T |
C |
7: 12,582,468 (GRCm39) |
V372A |
possibly damaging |
Het |
| Zmym2 |
C |
T |
14: 57,148,640 (GRCm39) |
S318L |
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 |
|
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 |
|
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'- AGACAATGCACTGGGCAGACAC -3'
(R):5'- GCCACTTGGCTTTGCTTTATAAGCAC -3'
Sequencing Primer
(F):5'- CAGACACATATGAGATCTGTGATAAC -3'
(R):5'- catcattcacatgcagtgcc -3'
|
| Posted On |
2014-03-28 |
Incidental Mutation