Incidental Mutation 'IGL01657:Dpp3'
| ID |
103044 |
| 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: 0.555)
|
| Stock # |
IGL01657
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
4957257-4978315 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 4968332 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 247
(T247A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025851
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025851]
|
| AlphaFold |
Q99KK7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000025851
AA Change: T247A
PolyPhen 2
Score 0.724 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000025851
Gene: ENSMUSG00000063904
AA Change: T247A
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrb3 |
A |
G |
1: 25,865,574 (GRCm39) |
F90L |
probably benign |
Het |
| Anapc4 |
T |
A |
5: 53,021,968 (GRCm39) |
Y683* |
probably null |
Het |
| Astn2 |
T |
G |
4: 65,570,186 (GRCm39) |
D773A |
probably damaging |
Het |
| Atp2b3 |
T |
C |
X: 72,588,966 (GRCm39) |
|
probably benign |
Het |
| Atp8b5 |
T |
C |
4: 43,291,693 (GRCm39) |
M22T |
probably benign |
Het |
| Birc6 |
T |
A |
17: 74,967,606 (GRCm39) |
L4169H |
probably damaging |
Het |
| Cdc42bpa |
T |
C |
1: 179,939,431 (GRCm39) |
V81A |
probably benign |
Het |
| Clcn2 |
A |
T |
16: 20,532,369 (GRCm39) |
C80S |
probably damaging |
Het |
| Clu |
C |
T |
14: 66,217,121 (GRCm39) |
A318V |
possibly damaging |
Het |
| Csnk1g2 |
A |
G |
10: 80,475,463 (GRCm39) |
H378R |
probably benign |
Het |
| Decr2 |
T |
A |
17: 26,301,926 (GRCm39) |
D268V |
probably damaging |
Het |
| Eif4g1 |
A |
G |
16: 20,500,966 (GRCm39) |
N774D |
possibly damaging |
Het |
| Epha4 |
A |
T |
1: 77,403,475 (GRCm39) |
V344E |
probably damaging |
Het |
| Epha6 |
A |
C |
16: 59,659,666 (GRCm39) |
N817K |
probably benign |
Het |
| Ggcx |
T |
A |
6: 72,406,941 (GRCm39) |
|
probably null |
Het |
| Gm1965 |
C |
T |
6: 89,123,648 (GRCm39) |
|
noncoding transcript |
Het |
| Gmnn |
T |
C |
13: 24,937,687 (GRCm39) |
E101G |
probably damaging |
Het |
| Grik2 |
C |
T |
10: 49,404,082 (GRCm39) |
|
probably null |
Het |
| H2-M11 |
T |
A |
17: 36,858,465 (GRCm39) |
D86E |
probably benign |
Het |
| Il6st |
T |
A |
13: 112,618,077 (GRCm39) |
W164R |
probably damaging |
Het |
| Ilvbl |
G |
T |
10: 78,412,602 (GRCm39) |
V108L |
possibly damaging |
Het |
| Klk10 |
A |
G |
7: 43,431,013 (GRCm39) |
K19E |
possibly damaging |
Het |
| Mbd4 |
G |
T |
6: 115,826,598 (GRCm39) |
T131N |
probably damaging |
Het |
| Ncapd3 |
T |
C |
9: 26,983,120 (GRCm39) |
V956A |
possibly damaging |
Het |
| Nif3l1 |
A |
C |
1: 58,494,771 (GRCm39) |
T247P |
probably damaging |
Het |
| Nrcam |
T |
C |
12: 44,606,583 (GRCm39) |
V443A |
probably damaging |
Het |
| Or4c35 |
A |
G |
2: 89,808,221 (GRCm39) |
Y33C |
probably damaging |
Het |
| Pigk |
T |
A |
3: 152,428,157 (GRCm39) |
H61Q |
probably damaging |
Het |
| Pla2g4d |
C |
A |
2: 120,105,768 (GRCm39) |
V431F |
possibly damaging |
Het |
| Pxt1 |
A |
T |
17: 29,153,778 (GRCm39) |
H18Q |
possibly damaging |
Het |
| Rpusd4 |
T |
C |
9: 35,184,757 (GRCm39) |
|
probably benign |
Het |
| Slc22a18 |
T |
G |
7: 143,052,837 (GRCm39) |
L354R |
probably damaging |
Het |
| Slc26a10 |
A |
G |
10: 127,010,903 (GRCm39) |
V443A |
probably damaging |
Het |
| Smpx |
A |
G |
X: 156,497,676 (GRCm39) |
|
probably benign |
Het |
| Sptan1 |
A |
G |
2: 29,908,491 (GRCm39) |
S1751G |
probably benign |
Het |
| Ush2a |
C |
T |
1: 188,558,658 (GRCm39) |
T3629I |
probably benign |
Het |
| Vcan |
C |
T |
13: 89,838,705 (GRCm39) |
V2280M |
probably damaging |
Het |
| Vmn1r30 |
T |
C |
6: 58,412,619 (GRCm39) |
E71G |
probably benign |
Het |
| Vmn2r100 |
A |
T |
17: 19,746,178 (GRCm39) |
I446F |
possibly damaging |
Het |
| Vmn2r75 |
A |
T |
7: 85,813,455 (GRCm39) |
V449D |
probably damaging |
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 |
|
IGL02105:Dpp3
|
APN |
19 |
4,966,799 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02251:Dpp3
|
APN |
19 |
4,968,343 (GRCm39) |
missense |
probably benign |
|
|
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 |
2014-01-21 |
Incidental Mutation