Incidental Mutation 'IGL02251:Dpp3'
| ID |
286380 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Dpp3
|
| Ensembl Gene |
ENSMUSG00000063904 |
| Gene Name |
dipeptidylpeptidase 3 |
| Synonyms |
4930533O14Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.605)
|
| Stock # |
IGL02251
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
4957257-4978315 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 4968343 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Proline
at position 243
(H243P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025851
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025851]
|
| AlphaFold |
Q99KK7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025851
AA Change: H243P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000025851
Gene: ENSMUSG00000063904
AA Change: H243P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Peptidase_M49
|
143 |
704 |
1.3e-236 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is a member of the M49 family of metallopeptidases. This cytoplasmic protein binds a single zinc ion with its zinc-binding motif (HELLGH) and has post-proline dipeptidyl aminopeptidase activity, cleaving Xaa-Pro dipeptides from the N-termini of proteins. Increased activity of this protein is associated with endometrial and ovarian cancers. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Feb 2012]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc6 |
A |
G |
7: 45,626,840 (GRCm39) |
C1406R |
probably damaging |
Het |
| Acp2 |
T |
A |
2: 91,038,678 (GRCm39) |
|
probably null |
Het |
| Antxr2 |
A |
C |
5: 98,125,454 (GRCm39) |
|
probably null |
Het |
| Arhgef11 |
C |
T |
3: 87,590,854 (GRCm39) |
R32C |
probably damaging |
Het |
| Armc6 |
A |
T |
8: 70,677,870 (GRCm39) |
L153* |
probably null |
Het |
| Btnl2 |
G |
T |
17: 34,582,213 (GRCm39) |
G260* |
probably null |
Het |
| Ccnf |
A |
G |
17: 24,445,513 (GRCm39) |
S551P |
probably benign |
Het |
| Cdh19 |
A |
G |
1: 110,882,382 (GRCm39) |
S37P |
probably benign |
Het |
| Cntnap3 |
T |
A |
13: 64,909,850 (GRCm39) |
T752S |
probably damaging |
Het |
| Crispld1 |
A |
G |
1: 17,799,064 (GRCm39) |
M62V |
probably benign |
Het |
| Ddr1 |
G |
A |
17: 35,994,372 (GRCm39) |
A801V |
probably damaging |
Het |
| Dner |
G |
T |
1: 84,361,747 (GRCm39) |
Q621K |
probably damaging |
Het |
| Dph6 |
A |
G |
2: 114,366,004 (GRCm39) |
|
probably null |
Het |
| Eif3j2 |
T |
A |
18: 43,610,431 (GRCm39) |
K127N |
probably damaging |
Het |
| Esrp1 |
G |
A |
4: 11,361,202 (GRCm39) |
R315C |
probably damaging |
Het |
| Gm973 |
A |
C |
1: 59,621,582 (GRCm39) |
H574P |
probably benign |
Het |
| Gprasp1 |
G |
A |
X: 134,701,288 (GRCm39) |
V494I |
probably benign |
Het |
| Hbb-bh1 |
T |
A |
7: 103,492,017 (GRCm39) |
K66* |
probably null |
Het |
| Hoxb9 |
T |
A |
11: 96,165,651 (GRCm39) |
M240K |
probably damaging |
Het |
| Irf2 |
T |
C |
8: 47,260,788 (GRCm39) |
|
probably null |
Het |
| Lgi4 |
A |
G |
7: 30,766,688 (GRCm39) |
|
probably null |
Het |
| Mylk3 |
C |
T |
8: 86,081,805 (GRCm39) |
V328M |
probably benign |
Het |
| Nf2 |
T |
C |
11: 4,798,873 (GRCm39) |
E38G |
probably null |
Het |
| Or4k40 |
A |
C |
2: 111,250,657 (GRCm39) |
L213R |
probably damaging |
Het |
| Or51l14 |
A |
T |
7: 103,100,978 (GRCm39) |
K145* |
probably null |
Het |
| Pdpk1 |
A |
G |
17: 24,298,612 (GRCm39) |
F346L |
probably damaging |
Het |
| Prex1 |
T |
C |
2: 166,419,806 (GRCm39) |
Y1120C |
probably damaging |
Het |
| Rab3gap1 |
A |
G |
1: 127,865,237 (GRCm39) |
T742A |
probably benign |
Het |
| Scai |
A |
T |
2: 38,989,429 (GRCm39) |
D401E |
probably benign |
Het |
| Scd1 |
T |
C |
19: 44,386,533 (GRCm39) |
H298R |
probably damaging |
Het |
| Shld2 |
T |
C |
14: 33,990,235 (GRCm39) |
R224G |
probably benign |
Het |
| Slc45a1 |
A |
G |
4: 150,723,176 (GRCm39) |
|
probably benign |
Het |
| Smim10l1 |
G |
T |
6: 133,082,471 (GRCm39) |
R6L |
probably damaging |
Het |
| Spag5 |
T |
G |
11: 78,210,860 (GRCm39) |
F921C |
probably damaging |
Het |
| Sun1 |
T |
C |
5: 139,227,186 (GRCm39) |
S667P |
probably damaging |
Het |
| Tas2r124 |
A |
G |
6: 132,732,524 (GRCm39) |
I278V |
probably benign |
Het |
| Thbs1 |
G |
A |
2: 117,943,999 (GRCm39) |
D206N |
probably benign |
Het |
| Trim37 |
T |
A |
11: 87,058,256 (GRCm39) |
|
probably benign |
Het |
| Vcp |
T |
C |
4: 42,988,728 (GRCm39) |
T249A |
possibly damaging |
Het |
| Vmn2r103 |
A |
G |
17: 20,014,231 (GRCm39) |
N341S |
possibly damaging |
Het |
| Zmat3 |
A |
G |
3: 32,399,732 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Dpp3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01487:Dpp3
|
APN |
19 |
4,963,920 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01657:Dpp3
|
APN |
19 |
4,968,332 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
IGL02105:Dpp3
|
APN |
19 |
4,966,799 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02669:Dpp3
|
APN |
19 |
4,973,710 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02739:Dpp3
|
APN |
19 |
4,973,756 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02851:Dpp3
|
APN |
19 |
4,973,159 (GRCm39) |
missense |
probably benign |
0.06 |
|
R0046:Dpp3
|
UTSW |
19 |
4,964,671 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0046:Dpp3
|
UTSW |
19 |
4,964,671 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0053:Dpp3
|
UTSW |
19 |
4,973,154 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0505:Dpp3
|
UTSW |
19 |
4,964,682 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0681:Dpp3
|
UTSW |
19 |
4,964,682 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1163:Dpp3
|
UTSW |
19 |
4,964,951 (GRCm39) |
nonsense |
probably null |
|
|
R1200:Dpp3
|
UTSW |
19 |
4,973,157 (GRCm39) |
missense |
probably benign |
|
|
R1761:Dpp3
|
UTSW |
19 |
4,971,177 (GRCm39) |
missense |
probably benign |
0.37 |
|
R1931:Dpp3
|
UTSW |
19 |
4,967,888 (GRCm39) |
splice site |
probably benign |
|
|
R2255:Dpp3
|
UTSW |
19 |
4,968,347 (GRCm39) |
missense |
probably benign |
|
|
R2424:Dpp3
|
UTSW |
19 |
4,957,735 (GRCm39) |
nonsense |
probably null |
|
|
R3718:Dpp3
|
UTSW |
19 |
4,973,093 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3727:Dpp3
|
UTSW |
19 |
4,973,213 (GRCm39) |
missense |
probably benign |
0.30 |
|
R5080:Dpp3
|
UTSW |
19 |
4,965,108 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5587:Dpp3
|
UTSW |
19 |
4,968,295 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5786:Dpp3
|
UTSW |
19 |
4,968,350 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R5986:Dpp3
|
UTSW |
19 |
4,968,385 (GRCm39) |
missense |
probably benign |
0.18 |
|
R6128:Dpp3
|
UTSW |
19 |
4,972,420 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6989:Dpp3
|
UTSW |
19 |
4,971,195 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7019:Dpp3
|
UTSW |
19 |
4,966,817 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R7070:Dpp3
|
UTSW |
19 |
4,968,356 (GRCm39) |
missense |
probably benign |
0.24 |
|
R7100:Dpp3
|
UTSW |
19 |
4,968,069 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7265:Dpp3
|
UTSW |
19 |
4,973,797 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7495:Dpp3
|
UTSW |
19 |
4,967,941 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7916:Dpp3
|
UTSW |
19 |
4,967,052 (GRCm39) |
nonsense |
probably null |
|
|
R9051:Dpp3
|
UTSW |
19 |
4,973,172 (GRCm39) |
missense |
probably benign |
|
|
R9266:Dpp3
|
UTSW |
19 |
4,964,686 (GRCm39) |
nonsense |
probably null |
|
|
R9452:Dpp3
|
UTSW |
19 |
4,973,750 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9524:Dpp3
|
UTSW |
19 |
4,959,897 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
Z1176:Dpp3
|
UTSW |
19 |
4,972,369 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation