Incidental Mutation 'R6995:Cpd'
| ID |
544152 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cpd
|
| Ensembl Gene |
ENSMUSG00000020841 |
| Gene Name |
carboxypeptidase D |
| Synonyms |
D830034L15Rik |
| MMRRC Submission |
045101-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.928)
|
| Stock # |
R6995 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
76669250-76737844 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 76675881 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 1257
(N1257K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021201
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021201]
|
| AlphaFold |
O89001 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021201
AA Change: N1257K
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000021201
Gene: ENSMUSG00000020841
AA Change: N1257K
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| 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 |
|---|
| 4930433I11Rik |
A |
G |
7: 40,644,149 (GRCm39) |
Y606C |
probably benign |
Het |
| Acad9 |
A |
G |
3: 36,139,630 (GRCm39) |
Y410C |
probably damaging |
Het |
| Acot6 |
C |
T |
12: 84,156,149 (GRCm39) |
P366S |
probably damaging |
Het |
| Adrm1b |
T |
C |
3: 92,336,315 (GRCm39) |
|
probably benign |
Het |
| Anks1 |
G |
T |
17: 28,273,273 (GRCm39) |
G964V |
probably damaging |
Het |
| Apol7a |
A |
T |
15: 77,274,176 (GRCm39) |
|
probably benign |
Het |
| Arid3c |
G |
A |
4: 41,725,087 (GRCm39) |
A320V |
probably damaging |
Het |
| Bnip3l |
A |
T |
14: 67,237,101 (GRCm39) |
N50K |
probably benign |
Het |
| C1qtnf4 |
C |
A |
2: 90,720,297 (GRCm39) |
A190D |
probably benign |
Het |
| Calhm5 |
A |
T |
10: 33,972,189 (GRCm39) |
M82K |
probably benign |
Het |
| Cdcp3 |
G |
T |
7: 130,824,400 (GRCm39) |
W165L |
probably damaging |
Het |
| Cdh1 |
G |
T |
8: 107,387,545 (GRCm39) |
V482L |
probably benign |
Het |
| Cdrt4 |
A |
C |
11: 62,883,486 (GRCm39) |
I63L |
probably benign |
Het |
| Cic |
A |
T |
7: 24,970,736 (GRCm39) |
T156S |
possibly damaging |
Het |
| Ckm |
A |
G |
7: 19,154,156 (GRCm39) |
N301S |
probably benign |
Het |
| Colgalt1 |
C |
T |
8: 72,076,165 (GRCm39) |
R539C |
probably damaging |
Het |
| Cop1 |
A |
G |
1: 159,134,154 (GRCm39) |
D132G |
probably damaging |
Het |
| Cyp2c67 |
T |
C |
19: 39,604,123 (GRCm39) |
H411R |
probably damaging |
Het |
| Cyp2r1 |
A |
T |
7: 114,152,316 (GRCm39) |
F5I |
probably damaging |
Het |
| Dclk3 |
T |
A |
9: 111,296,768 (GRCm39) |
L104Q |
possibly damaging |
Het |
| Dnah7c |
A |
T |
1: 46,494,973 (GRCm39) |
Q67L |
probably benign |
Het |
| Dnm1l |
C |
A |
16: 16,147,671 (GRCm39) |
E365* |
probably null |
Het |
| Dst |
A |
T |
1: 34,205,315 (GRCm39) |
I502F |
probably damaging |
Het |
| Espl1 |
T |
C |
15: 102,212,535 (GRCm39) |
V547A |
possibly damaging |
Het |
| Foxa1 |
C |
T |
12: 57,589,264 (GRCm39) |
A319T |
probably benign |
Het |
| Frem1 |
G |
T |
4: 82,904,838 (GRCm39) |
H859N |
probably damaging |
Het |
| Frem3 |
T |
A |
8: 81,339,208 (GRCm39) |
D500E |
probably damaging |
Het |
| Gpatch2l |
G |
A |
12: 86,290,958 (GRCm39) |
R47H |
probably damaging |
Het |
| Grip1 |
A |
G |
10: 119,822,375 (GRCm39) |
D394G |
probably damaging |
Het |
| Gsap |
C |
A |
5: 21,476,235 (GRCm39) |
T589K |
possibly damaging |
Het |
| Gsg1l |
A |
G |
7: 125,522,658 (GRCm39) |
V190A |
probably damaging |
Het |
| Kcnmb1 |
A |
T |
11: 33,920,131 (GRCm39) |
T115S |
probably benign |
Het |
| Kirrel2 |
A |
C |
7: 30,154,604 (GRCm39) |
F169C |
probably damaging |
Het |
| L3mbtl1 |
C |
T |
2: 162,803,368 (GRCm39) |
T397M |
probably damaging |
Het |
| Lama1 |
G |
A |
17: 68,060,820 (GRCm39) |
C716Y |
|
Het |
| Lamc2 |
G |
A |
1: 153,012,508 (GRCm39) |
T722M |
probably benign |
Het |
| Lrig1 |
T |
C |
6: 94,588,610 (GRCm39) |
D513G |
possibly damaging |
Het |
| Lrrk1 |
T |
C |
7: 65,942,090 (GRCm39) |
D716G |
probably damaging |
Het |
| Matn4 |
G |
A |
2: 164,231,584 (GRCm39) |
R582* |
probably null |
Het |
| Mdn1 |
A |
T |
4: 32,733,374 (GRCm39) |
R3133W |
probably benign |
Het |
| Mmp7 |
A |
G |
9: 7,695,489 (GRCm39) |
D122G |
probably damaging |
Het |
| Naaladl1 |
A |
G |
19: 6,165,578 (GRCm39) |
D744G |
possibly damaging |
Het |
| Nampt |
T |
G |
12: 32,898,742 (GRCm39) |
Y453D |
probably benign |
Het |
| Nlrp12 |
A |
G |
7: 3,288,481 (GRCm39) |
V677A |
probably benign |
Het |
| Ntng2 |
T |
C |
2: 29,087,080 (GRCm39) |
N414S |
probably damaging |
Het |
| Or1e16 |
A |
G |
11: 73,286,410 (GRCm39) |
V146A |
probably benign |
Het |
| Or4g17 |
A |
G |
2: 111,209,708 (GRCm39) |
D121G |
probably damaging |
Het |
| Or5p52 |
A |
G |
7: 107,502,829 (GRCm39) |
R302G |
probably benign |
Het |
| Or9m1b |
A |
C |
2: 87,836,529 (GRCm39) |
F189V |
probably benign |
Het |
| Parp4 |
A |
C |
14: 56,851,196 (GRCm39) |
Q733P |
probably damaging |
Het |
| Pdcl3 |
G |
A |
1: 39,034,417 (GRCm39) |
V56I |
probably benign |
Het |
| Pepd |
A |
G |
7: 34,721,144 (GRCm39) |
Y256C |
probably damaging |
Het |
| Plg |
G |
T |
17: 12,637,938 (GRCm39) |
R788L |
probably benign |
Het |
| Plod1 |
A |
T |
4: 148,000,675 (GRCm39) |
|
probably benign |
Het |
| Ptprc |
A |
G |
1: 138,016,482 (GRCm39) |
V513A |
probably damaging |
Het |
| Pxdn |
T |
C |
12: 30,045,370 (GRCm39) |
I373T |
possibly damaging |
Het |
| Qrfprl |
A |
T |
6: 65,418,285 (GRCm39) |
K151I |
probably damaging |
Het |
| Rbbp8 |
G |
A |
18: 11,851,965 (GRCm39) |
G262E |
probably damaging |
Het |
| Rfc2 |
T |
A |
5: 134,623,104 (GRCm39) |
Y240* |
probably null |
Het |
| Rps15 |
A |
G |
10: 80,129,598 (GRCm39) |
E71G |
possibly damaging |
Het |
| Rsrc1 |
C |
T |
3: 66,901,982 (GRCm39) |
P44L |
unknown |
Het |
| Ryr1 |
A |
C |
7: 28,793,607 (GRCm39) |
M1287R |
probably damaging |
Het |
| Scart2 |
G |
A |
7: 139,841,514 (GRCm39) |
D273N |
probably benign |
Het |
| Serpina9 |
A |
G |
12: 103,967,495 (GRCm39) |
L300P |
probably damaging |
Het |
| Sh3rf2 |
G |
A |
18: 42,234,606 (GRCm39) |
A130T |
probably damaging |
Het |
| Slc12a8 |
G |
A |
16: 33,355,263 (GRCm39) |
W26* |
probably null |
Het |
| Snx18 |
A |
T |
13: 113,731,265 (GRCm39) |
H576Q |
probably damaging |
Het |
| Tagln3 |
G |
A |
16: 45,543,321 (GRCm39) |
T107I |
probably benign |
Het |
| Thap1 |
C |
A |
8: 26,652,679 (GRCm39) |
T139K |
probably damaging |
Het |
| Tle4 |
T |
A |
19: 14,541,817 (GRCm39) |
|
probably null |
Het |
| Tmem87a |
A |
T |
2: 120,193,409 (GRCm39) |
M502K |
possibly damaging |
Het |
| Tpcn2 |
A |
T |
7: 144,810,522 (GRCm39) |
V605E |
probably benign |
Het |
| Trgj1 |
C |
A |
13: 19,394,529 (GRCm39) |
|
probably benign |
Het |
| Tsc2 |
A |
T |
17: 24,847,028 (GRCm39) |
V179E |
probably damaging |
Het |
| Ubap2l |
T |
C |
3: 89,916,548 (GRCm39) |
T909A |
probably damaging |
Het |
| Ubl4b |
T |
G |
3: 107,462,140 (GRCm39) |
Q40P |
probably damaging |
Het |
| Vmn1r229 |
A |
G |
17: 21,035,277 (GRCm39) |
D174G |
probably damaging |
Het |
| Vmn2r50 |
A |
T |
7: 9,779,964 (GRCm39) |
Y472* |
probably null |
Het |
| Vmn2r74 |
T |
A |
7: 85,601,943 (GRCm39) |
D565V |
probably benign |
Het |
| Vmn2r74 |
T |
A |
7: 85,606,860 (GRCm39) |
|
probably null |
Het |
| Vmn2r82 |
T |
A |
10: 79,232,377 (GRCm39) |
V792E |
probably damaging |
Het |
| Zfp335 |
G |
A |
2: 164,735,210 (GRCm39) |
Q1179* |
probably null |
Het |
| Zmynd12 |
A |
C |
4: 119,310,772 (GRCm39) |
K327Q |
probably benign |
Het |
| Zwilch |
G |
A |
9: 64,072,731 (GRCm39) |
Q27* |
probably null |
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 |
|
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 |
|
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'- CTATGCAAGTTAGTCTTCTGTTGC -3'
(R):5'- GCCTCAAGCTATTGCCTGTAAAATATC -3'
Sequencing Primer
(F):5'- CAAGTTAGTCTTCTGTTGCTGAGG -3'
(R):5'- GCTATTGCCTGTAAAATATCTGCTG -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation