Incidental Mutation 'R7767:Cpd'
| ID |
598321 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cpd
|
| Ensembl Gene |
ENSMUSG00000020841 |
| Gene Name |
carboxypeptidase D |
| Synonyms |
D830034L15Rik |
| MMRRC Submission |
045823-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.928)
|
| Stock # |
R7767 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
76669250-76737844 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 76704385 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 410
(I410F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021201
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021201]
|
| AlphaFold |
O89001 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021201
AA Change: I410F
PolyPhen 2
Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000021201
Gene: ENSMUSG00000020841
AA Change: I410F
| 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: 99.3%
|
| 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: 77 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aox4 |
C |
A |
1: 58,274,366 (GRCm39) |
S384Y |
probably damaging |
Het |
| Arhgef15 |
T |
C |
11: 68,844,673 (GRCm39) |
E308G |
probably damaging |
Het |
| Asb15 |
A |
G |
6: 24,559,281 (GRCm39) |
D142G |
probably benign |
Het |
| Atg13 |
A |
G |
2: 91,509,711 (GRCm39) |
S394P |
probably damaging |
Het |
| Atp10a |
G |
C |
7: 58,308,597 (GRCm39) |
W132S |
probably damaging |
Het |
| Bltp1 |
G |
T |
3: 36,974,436 (GRCm39) |
|
probably null |
Het |
| Bod1l |
T |
A |
5: 41,974,099 (GRCm39) |
N2405I |
probably benign |
Het |
| Capsl |
C |
T |
15: 9,462,770 (GRCm39) |
R137C |
probably damaging |
Het |
| Cd109 |
T |
A |
9: 78,617,441 (GRCm39) |
M1313K |
probably damaging |
Het |
| Chst13 |
G |
A |
6: 90,286,566 (GRCm39) |
A132V |
possibly damaging |
Het |
| Cobl |
T |
C |
11: 12,362,117 (GRCm39) |
|
probably benign |
Het |
| Coq9 |
A |
T |
8: 95,577,214 (GRCm39) |
E193V |
probably benign |
Het |
| Cyth3 |
T |
G |
5: 143,693,229 (GRCm39) |
V351G |
probably damaging |
Het |
| Dcdc2c |
T |
C |
12: 28,520,256 (GRCm39) |
K607E |
|
Het |
| Dcp1a |
T |
C |
14: 30,201,775 (GRCm39) |
|
probably null |
Het |
| Dennd3 |
A |
G |
15: 73,394,079 (GRCm39) |
I35V |
probably benign |
Het |
| Dlgap4 |
C |
T |
2: 156,587,973 (GRCm39) |
R606W |
probably damaging |
Het |
| Dnhd1 |
A |
G |
7: 105,343,817 (GRCm39) |
I1720M |
probably benign |
Het |
| Erbin |
A |
G |
13: 103,995,907 (GRCm39) |
L265P |
probably damaging |
Het |
| Ern1 |
T |
C |
11: 106,291,134 (GRCm39) |
D847G |
probably damaging |
Het |
| Esyt3 |
T |
G |
9: 99,207,024 (GRCm39) |
S342R |
probably benign |
Het |
| Exoc2 |
A |
T |
13: 31,060,752 (GRCm39) |
I584K |
probably benign |
Het |
| Fam240a |
T |
C |
9: 110,744,090 (GRCm39) |
R50G |
probably damaging |
Het |
| Glis3 |
A |
T |
19: 28,241,360 (GRCm39) |
M858K |
probably benign |
Het |
| Gls2 |
C |
T |
10: 128,030,998 (GRCm39) |
R86C |
unknown |
Het |
| Gm10972 |
C |
A |
3: 94,550,901 (GRCm39) |
Y25* |
probably null |
Het |
| H2-T10 |
A |
T |
17: 36,428,622 (GRCm39) |
M350K |
probably benign |
Het |
| Has1 |
A |
T |
17: 18,070,792 (GRCm39) |
V43D |
probably damaging |
Het |
| Herc2 |
T |
A |
7: 55,878,275 (GRCm39) |
S4609R |
probably benign |
Het |
| Hmgcs2 |
A |
C |
3: 98,198,582 (GRCm39) |
T162P |
probably damaging |
Het |
| Hspg2 |
G |
T |
4: 137,239,177 (GRCm39) |
C368F |
probably damaging |
Het |
| Ighv11-1 |
A |
G |
12: 113,945,722 (GRCm39) |
S44P |
probably damaging |
Het |
| Inppl1 |
A |
G |
7: 101,473,545 (GRCm39) |
V1035A |
probably benign |
Het |
| Kmt2a |
C |
T |
9: 44,730,295 (GRCm39) |
V3341I |
unknown |
Het |
| Lrp1b |
T |
C |
2: 40,691,517 (GRCm39) |
N3434S |
|
Het |
| Lrriq1 |
G |
C |
10: 103,051,815 (GRCm39) |
S312R |
probably damaging |
Het |
| Map1a |
G |
A |
2: 121,132,517 (GRCm39) |
S1111N |
probably damaging |
Het |
| Myo15a |
T |
C |
11: 60,392,922 (GRCm39) |
V1029A |
|
Het |
| Nol11 |
T |
C |
11: 107,069,908 (GRCm39) |
H314R |
possibly damaging |
Het |
| Nphs1 |
A |
T |
7: 30,162,733 (GRCm39) |
D404V |
probably damaging |
Het |
| Odr4 |
A |
G |
1: 150,247,788 (GRCm39) |
V387A |
probably benign |
Het |
| Or51r1 |
A |
T |
7: 102,220,971 (GRCm39) |
|
probably benign |
Het |
| Pabpc2 |
T |
C |
18: 39,907,607 (GRCm39) |
Y291H |
possibly damaging |
Het |
| Pcdh15 |
G |
A |
10: 74,322,088 (GRCm39) |
A1020T |
probably benign |
Het |
| Pla2g4f |
A |
C |
2: 120,135,490 (GRCm39) |
S395A |
possibly damaging |
Het |
| Ppp1r18 |
A |
G |
17: 36,178,176 (GRCm39) |
Q17R |
probably damaging |
Het |
| Prokr2 |
A |
T |
2: 132,215,996 (GRCm39) |
V155D |
probably damaging |
Het |
| Pwwp2a |
T |
G |
11: 43,596,696 (GRCm39) |
C620W |
probably damaging |
Het |
| Rabepk |
T |
C |
2: 34,675,605 (GRCm39) |
D175G |
probably damaging |
Het |
| Rad54l |
T |
C |
4: 115,956,866 (GRCm39) |
Y485C |
probably damaging |
Het |
| Rasef |
A |
G |
4: 73,652,771 (GRCm39) |
S577P |
probably damaging |
Het |
| Rgma |
C |
A |
7: 73,067,752 (GRCm39) |
L446I |
unknown |
Het |
| Rnf212b |
T |
C |
14: 55,079,825 (GRCm39) |
S182P |
probably damaging |
Het |
| Rnf6 |
C |
A |
5: 146,147,986 (GRCm39) |
R344I |
probably damaging |
Het |
| Rnf6 |
T |
A |
5: 146,147,987 (GRCm39) |
R344* |
probably null |
Het |
| Sgo1 |
A |
G |
17: 53,986,639 (GRCm39) |
I184T |
possibly damaging |
Het |
| Sgpl1 |
A |
T |
10: 60,953,502 (GRCm39) |
I78N |
possibly damaging |
Het |
| Snx13 |
T |
A |
12: 35,157,483 (GRCm39) |
Y510N |
probably damaging |
Het |
| Sptbn2 |
G |
A |
19: 4,784,171 (GRCm39) |
E638K |
possibly damaging |
Het |
| Sspo |
A |
G |
6: 48,428,316 (GRCm39) |
T349A |
probably damaging |
Het |
| Sv2c |
C |
T |
13: 96,126,223 (GRCm39) |
S343N |
probably damaging |
Het |
| Syne1 |
C |
A |
10: 5,283,560 (GRCm39) |
V1502F |
possibly damaging |
Het |
| Syne1 |
T |
A |
10: 5,283,632 (GRCm39) |
I1478F |
possibly damaging |
Het |
| Tmem121 |
C |
T |
12: 113,151,992 (GRCm39) |
A70V |
probably damaging |
Het |
| Tmem215 |
A |
G |
4: 40,474,042 (GRCm39) |
I40V |
possibly damaging |
Het |
| Trim25 |
A |
G |
11: 88,899,943 (GRCm39) |
|
probably null |
Het |
| Trio |
A |
G |
15: 27,889,504 (GRCm39) |
V534A |
unknown |
Het |
| Tyr |
T |
A |
7: 87,142,218 (GRCm39) |
E114V |
probably benign |
Het |
| Ush2a |
A |
T |
1: 188,285,457 (GRCm39) |
T1998S |
probably benign |
Het |
| Usp40 |
G |
T |
1: 87,909,900 (GRCm39) |
A518E |
probably benign |
Het |
| Usp48 |
T |
A |
4: 137,331,956 (GRCm39) |
|
probably null |
Het |
| Vash1 |
T |
A |
12: 86,733,767 (GRCm39) |
F152L |
probably damaging |
Het |
| Vsig10l |
C |
A |
7: 43,113,141 (GRCm39) |
P31Q |
probably damaging |
Het |
| Xab2 |
C |
T |
8: 3,669,018 (GRCm39) |
E43K |
probably benign |
Het |
| Zfp423 |
G |
A |
8: 88,507,512 (GRCm39) |
S944F |
probably damaging |
Het |
| Zp2 |
A |
T |
7: 119,736,392 (GRCm39) |
D350E |
probably benign |
Het |
| Zscan4e |
T |
G |
7: 11,041,461 (GRCm39) |
Q165P |
probably damaging |
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 |
|
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 |
|
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'- CAGAAGCCCCATTCAGTGAG -3'
(R):5'- GTCTATACTTTGTTTCAACTTCAAGGG -3'
Sequencing Primer
(F):5'- GTGAGAAGCACTTAGACAATCCTAC -3'
(R):5'- TTCCATAAAGGGTTCCAGGGC -3'
|
| Posted On |
2019-11-26 |
Incidental Mutation