Incidental Mutation 'IGL02669:Dpp3'
| ID |
302878 |
| 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 # |
IGL02669
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
4957257-4978315 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to T
at 4973710 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025851
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025851]
|
| AlphaFold |
Q99KK7 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000025851
|
| SMART Domains |
Protein: ENSMUSP00000025851
Gene: ENSMUSG00000063904
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A930003A15Rik |
T |
A |
16: 19,702,505 (GRCm39) |
|
noncoding transcript |
Het |
| Acap1 |
G |
A |
11: 69,785,421 (GRCm39) |
|
probably benign |
Het |
| Adam7 |
T |
C |
14: 68,745,343 (GRCm39) |
Y627C |
probably damaging |
Het |
| Agrn |
C |
T |
4: 156,259,018 (GRCm39) |
|
probably benign |
Het |
| Aoc1l2 |
A |
G |
6: 48,908,407 (GRCm39) |
Y469C |
probably damaging |
Het |
| Bace2 |
T |
C |
16: 97,238,093 (GRCm39) |
*515R |
probably null |
Het |
| Baiap3 |
C |
T |
17: 25,463,322 (GRCm39) |
V958M |
probably damaging |
Het |
| Brms1l |
A |
T |
12: 55,888,401 (GRCm39) |
D63V |
probably damaging |
Het |
| Cnksr1 |
A |
T |
4: 133,957,774 (GRCm39) |
I435N |
probably damaging |
Het |
| Col14a1 |
G |
A |
15: 55,282,178 (GRCm39) |
G813E |
unknown |
Het |
| Cpne6 |
A |
G |
14: 55,751,283 (GRCm39) |
N201S |
probably benign |
Het |
| Dnajc12 |
A |
G |
10: 63,233,071 (GRCm39) |
S71G |
probably damaging |
Het |
| E2f3 |
A |
G |
13: 30,100,974 (GRCm39) |
S239P |
probably benign |
Het |
| Eif3e |
T |
A |
15: 43,146,088 (GRCm39) |
M1L |
probably benign |
Het |
| Erap1 |
A |
G |
13: 74,823,987 (GRCm39) |
T867A |
probably benign |
Het |
| Erlin1 |
G |
T |
19: 44,027,658 (GRCm39) |
A260E |
probably damaging |
Het |
| Esrp1 |
A |
G |
4: 11,386,324 (GRCm39) |
V38A |
possibly damaging |
Het |
| Foxn1 |
T |
C |
11: 78,261,986 (GRCm39) |
R128G |
probably damaging |
Het |
| Gnb3 |
A |
G |
6: 124,814,688 (GRCm39) |
L70P |
probably benign |
Het |
| Gon4l |
T |
C |
3: 88,802,806 (GRCm39) |
V1139A |
probably damaging |
Het |
| Gpt2 |
G |
T |
8: 86,249,908 (GRCm39) |
M463I |
probably benign |
Het |
| Gtpbp3 |
C |
A |
8: 71,943,546 (GRCm39) |
A201D |
probably damaging |
Het |
| Jaml |
A |
C |
9: 45,015,489 (GRCm39) |
K331T |
possibly damaging |
Het |
| Kntc1 |
G |
A |
5: 123,893,727 (GRCm39) |
|
probably benign |
Het |
| Ksr2 |
A |
G |
5: 117,693,446 (GRCm39) |
K298R |
probably damaging |
Het |
| Mfge8 |
T |
C |
7: 78,795,429 (GRCm39) |
D46G |
probably benign |
Het |
| Ncam2 |
T |
A |
16: 81,314,429 (GRCm39) |
N468K |
probably benign |
Het |
| Nup88 |
A |
G |
11: 70,847,110 (GRCm39) |
M300T |
probably damaging |
Het |
| Or4c118 |
T |
A |
2: 88,974,564 (GRCm39) |
K268* |
probably null |
Het |
| Or4k48 |
A |
T |
2: 111,476,236 (GRCm39) |
Y35* |
probably null |
Het |
| Or52b4 |
A |
G |
7: 102,184,868 (GRCm39) |
M305V |
probably benign |
Het |
| Prdm1 |
A |
T |
10: 44,315,880 (GRCm39) |
M752K |
probably benign |
Het |
| Prl3b1 |
A |
T |
13: 27,429,795 (GRCm39) |
M78L |
probably benign |
Het |
| Ralgps2 |
T |
C |
1: 156,660,268 (GRCm39) |
E268G |
probably damaging |
Het |
| Rgs11 |
G |
A |
17: 26,426,605 (GRCm39) |
V279I |
probably benign |
Het |
| Slc4a5 |
A |
G |
6: 83,240,525 (GRCm39) |
D279G |
possibly damaging |
Het |
| Tanc1 |
T |
A |
2: 59,630,330 (GRCm39) |
I770K |
probably damaging |
Het |
| Tbl2 |
G |
A |
5: 135,181,852 (GRCm39) |
R64H |
probably damaging |
Het |
| Tg |
T |
A |
15: 66,620,575 (GRCm39) |
|
probably benign |
Het |
| Tmprss13 |
A |
T |
9: 45,243,824 (GRCm39) |
I187F |
probably benign |
Het |
| Tubb3 |
T |
C |
8: 124,147,856 (GRCm39) |
L263P |
probably damaging |
Het |
| Vmn2r109 |
T |
G |
17: 20,774,518 (GRCm39) |
D279A |
possibly damaging |
Het |
| Vps33b |
A |
G |
7: 79,925,786 (GRCm39) |
|
probably benign |
Het |
| Yeats2 |
A |
G |
16: 20,005,033 (GRCm39) |
S338G |
probably benign |
Het |
| Zfp142 |
T |
C |
1: 74,610,432 (GRCm39) |
Q1121R |
probably benign |
Het |
| Zic1 |
G |
T |
9: 91,246,486 (GRCm39) |
H195Q |
possibly 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 |
|
|
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