Incidental Mutation 'IGL02739:Dpp3'
ID |
305791 |
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 # |
IGL02739
|
Quality Score |
|
Status
|
|
Chromosome |
19 |
Chromosomal Location |
4957257-4978315 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 4973756 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 106
(Y106H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000025851
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025851]
|
AlphaFold |
Q99KK7 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000025851
AA Change: Y106H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000025851 Gene: ENSMUSG00000063904 AA Change: Y106H
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 |
Aasdh |
A |
T |
5: 77,026,364 (GRCm39) |
C887S |
possibly damaging |
Het |
Adamdec1 |
C |
A |
14: 68,807,605 (GRCm39) |
E352* |
probably null |
Het |
Bglap2 |
A |
T |
3: 88,285,319 (GRCm39) |
|
probably null |
Het |
Bsn |
A |
T |
9: 107,989,745 (GRCm39) |
H2002Q |
probably benign |
Het |
Chtop |
T |
A |
3: 90,409,557 (GRCm39) |
Q165L |
possibly damaging |
Het |
Clcn1 |
A |
T |
6: 42,263,714 (GRCm39) |
|
probably null |
Het |
Ctsr |
T |
C |
13: 61,309,658 (GRCm39) |
T184A |
probably benign |
Het |
Defb36 |
T |
C |
2: 152,446,439 (GRCm39) |
L11P |
unknown |
Het |
Dock8 |
A |
G |
19: 25,165,852 (GRCm39) |
E1912G |
probably damaging |
Het |
Epas1 |
A |
G |
17: 87,112,710 (GRCm39) |
T103A |
probably damaging |
Het |
Epcam |
A |
T |
17: 87,947,922 (GRCm39) |
T131S |
probably benign |
Het |
Fam169a |
A |
G |
13: 97,230,563 (GRCm39) |
|
probably benign |
Het |
Gh |
T |
A |
11: 106,192,559 (GRCm39) |
|
probably benign |
Het |
Kif20a |
A |
T |
18: 34,761,996 (GRCm39) |
K399* |
probably null |
Het |
Lrp1b |
A |
G |
2: 41,388,227 (GRCm39) |
I466T |
probably damaging |
Het |
Nlk |
A |
G |
11: 78,465,677 (GRCm39) |
V409A |
probably benign |
Het |
Nomo1 |
A |
G |
7: 45,693,731 (GRCm39) |
|
probably null |
Het |
Nr2c1 |
T |
A |
10: 93,992,834 (GRCm39) |
M16K |
probably damaging |
Het |
Nxph2 |
A |
T |
2: 23,289,912 (GRCm39) |
Q88L |
probably benign |
Het |
Or51a39 |
A |
G |
7: 102,363,521 (GRCm39) |
I33T |
possibly damaging |
Het |
Pkdrej |
T |
A |
15: 85,703,895 (GRCm39) |
R680S |
probably benign |
Het |
Pkhd1l1 |
A |
T |
15: 44,404,346 (GRCm39) |
N2325I |
probably benign |
Het |
Pnliprp2 |
T |
C |
19: 58,748,941 (GRCm39) |
|
probably null |
Het |
Ppp1r42 |
T |
A |
1: 10,039,078 (GRCm39) |
K347N |
probably benign |
Het |
Prtg |
T |
C |
9: 72,758,867 (GRCm39) |
V407A |
possibly damaging |
Het |
Psmb8 |
C |
A |
17: 34,419,728 (GRCm39) |
S194* |
probably null |
Het |
Rnf214 |
T |
C |
9: 45,780,772 (GRCm39) |
I406V |
probably benign |
Het |
Rreb1 |
C |
T |
13: 38,077,797 (GRCm39) |
S3L |
probably damaging |
Het |
Sdad1 |
C |
T |
5: 92,437,931 (GRCm39) |
A539T |
probably benign |
Het |
Sema3a |
A |
G |
5: 13,501,128 (GRCm39) |
Y57C |
probably damaging |
Het |
Susd5 |
A |
G |
9: 113,925,101 (GRCm39) |
E328G |
possibly damaging |
Het |
Syngr3 |
T |
C |
17: 24,905,372 (GRCm39) |
T175A |
probably damaging |
Het |
Tcf20 |
T |
A |
15: 82,740,281 (GRCm39) |
Q390L |
probably damaging |
Het |
Tex15 |
A |
G |
8: 34,071,721 (GRCm39) |
T2423A |
possibly damaging |
Het |
Tlr1 |
T |
C |
5: 65,084,469 (GRCm39) |
N36S |
probably benign |
Het |
Uchl4 |
C |
T |
9: 64,142,819 (GRCm39) |
T100M |
probably damaging |
Het |
Uhrf1 |
A |
G |
17: 56,612,129 (GRCm39) |
K11R |
probably benign |
Het |
Vps13b |
T |
A |
15: 35,880,046 (GRCm39) |
D3040E |
probably damaging |
Het |
Wdr62 |
A |
T |
7: 29,941,885 (GRCm39) |
Y640* |
probably null |
Het |
Zkscan17 |
T |
G |
11: 59,394,352 (GRCm39) |
E83A |
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 |
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 |
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 |
|
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 |