Incidental Mutation 'R3718:Dpp3'
| ID |
258804 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dpp3
|
| Ensembl Gene |
ENSMUSG00000063904 |
| Gene Name |
dipeptidylpeptidase 3 |
| Synonyms |
4930533O14Rik |
| MMRRC Submission |
040710-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.555)
|
| Stock # |
R3718 (G1)
|
| Quality Score |
125 |
|
Status
|
Validated
|
| 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 G
at 4973093 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025851
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025851]
[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 |
|
| 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 |
|
| Meta Mutation Damage Score |
0.9502 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.4%
|
| Validation Efficiency |
97% (36/37) |
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abra |
T |
C |
15: 41,729,689 (GRCm39) |
D237G |
probably benign |
Het |
| Alas2 |
T |
C |
X: 149,343,726 (GRCm39) |
|
probably benign |
Het |
| Ano6 |
A |
G |
15: 95,811,260 (GRCm39) |
D120G |
probably damaging |
Het |
| Aspm |
T |
C |
1: 139,408,627 (GRCm39) |
Y2505H |
probably benign |
Het |
| Aspm |
G |
A |
1: 139,418,165 (GRCm39) |
V2965I |
probably benign |
Het |
| Ccna2 |
A |
T |
3: 36,620,387 (GRCm39) |
V285E |
probably benign |
Het |
| Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
| Dnajc10 |
A |
G |
2: 80,155,089 (GRCm39) |
|
probably benign |
Het |
| Gng11 |
G |
A |
6: 4,008,078 (GRCm39) |
R47H |
probably benign |
Het |
| Hivep1 |
C |
T |
13: 42,311,971 (GRCm39) |
H1404Y |
probably damaging |
Het |
| Il18r1 |
A |
G |
1: 40,534,948 (GRCm39) |
E381G |
probably benign |
Het |
| Il9 |
G |
A |
13: 56,627,264 (GRCm39) |
T116I |
probably damaging |
Het |
| Kcnh1 |
A |
G |
1: 191,921,107 (GRCm39) |
T129A |
probably damaging |
Het |
| Mroh7 |
T |
C |
4: 106,561,407 (GRCm39) |
E612G |
probably benign |
Het |
| Nav1 |
A |
T |
1: 135,378,368 (GRCm39) |
I1653K |
probably damaging |
Het |
| Neb |
T |
C |
2: 52,167,482 (GRCm39) |
E1948G |
probably damaging |
Het |
| Ntsr1 |
T |
C |
2: 180,184,499 (GRCm39) |
F401L |
probably benign |
Het |
| Nup210 |
A |
T |
6: 90,997,162 (GRCm39) |
D1626E |
probably benign |
Het |
| Or10q12 |
A |
G |
19: 13,746,428 (GRCm39) |
R241G |
probably damaging |
Het |
| Or4k35 |
A |
G |
2: 111,100,571 (GRCm39) |
V47A |
probably benign |
Het |
| Or8g26 |
A |
G |
9: 39,096,361 (GRCm39) |
R293G |
probably damaging |
Het |
| Pign |
A |
G |
1: 105,577,006 (GRCm39) |
|
probably null |
Het |
| Rad54l2 |
A |
G |
9: 106,570,726 (GRCm39) |
V1198A |
probably benign |
Het |
| Sh3tc2 |
T |
C |
18: 62,123,414 (GRCm39) |
V725A |
probably benign |
Het |
| Skint10 |
A |
T |
4: 112,603,936 (GRCm39) |
W84R |
probably damaging |
Het |
| Slc40a1 |
G |
T |
1: 45,950,151 (GRCm39) |
H434N |
probably benign |
Het |
| Trdv2-1 |
T |
C |
14: 54,183,995 (GRCm39) |
Y76H |
probably benign |
Het |
| Trim43c |
T |
C |
9: 88,727,030 (GRCm39) |
S286P |
probably benign |
Het |
| Ttn |
G |
A |
2: 76,575,558 (GRCm39) |
P25112S |
probably damaging |
Het |
| Ubac1 |
C |
T |
2: 25,904,953 (GRCm39) |
R95H |
probably damaging |
Het |
| Vps13d |
A |
G |
4: 144,802,296 (GRCm39) |
I405T |
probably damaging |
Het |
| Zc3hav1l |
G |
T |
6: 38,272,060 (GRCm39) |
S236R |
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 |
|
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCCTGACCTGGAAGAACATTC -3'
(R):5'- ACTCTTCTCAGGGCTTGCTG -3'
Sequencing Primer
(F):5'- TGACCTGGAAGAACATTCTAGAC -3'
(R):5'- CTGTTCCCGGGGCTACATTG -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation