Incidental Mutation 'IGL02836:Dpep2'
| ID |
361677 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Dpep2
|
| Ensembl Gene |
ENSMUSG00000115067 |
| Gene Name |
dipeptidase 2 |
| Synonyms |
F630103D06Rik, MBD-2 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.161)
|
| Stock # |
IGL02836
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
106711577-106732658 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
C to A
at 106717227 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154250
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034373]
[ENSMUST00000117555]
[ENSMUST00000142898]
[ENSMUST00000227363]
[ENSMUST00000227778]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000034373
|
| SMART Domains |
Protein: ENSMUSP00000034373
Gene: ENSMUSG00000053687
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
31 |
N/A |
INTRINSIC |
|
Pfam:Peptidase_M19
|
80 |
401 |
3.4e-112 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000081998
|
| SMART Domains |
Protein: ENSMUSP00000080659
Gene: ENSMUSG00000115067
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
97 |
113 |
N/A |
INTRINSIC |
|
Pfam:Peptidase_M19
|
166 |
501 |
1.2e-104 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000083297
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000117555
|
| SMART Domains |
Protein: ENSMUSP00000113877
Gene: ENSMUSG00000053687
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Peptidase_M19
|
1 |
308 |
5.7e-107 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000142898
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149057
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150001
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212917
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000227363
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227778
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] DPEP2 belongs to the membrane-bound dipeptidase (EC 3.4.13.19) family. These enzymes hydrolyze a variety of dipeptides, including leukotriene D4, the beta-lactam ring of some antibiotics, and cystinyl-bis-glycine (cys-bis-gly) formed during glutathione degradation (Habib et al., 2003 [PubMed 12738806]).[supplied by OMIM, Mar 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4 |
T |
A |
4: 144,349,782 (GRCm39) |
N346K |
possibly damaging |
Het |
| Abca15 |
A |
G |
7: 119,987,439 (GRCm39) |
M1242V |
probably benign |
Het |
| Abca6 |
T |
A |
11: 110,139,374 (GRCm39) |
E33D |
probably damaging |
Het |
| Abca8a |
T |
C |
11: 109,961,177 (GRCm39) |
K582E |
possibly damaging |
Het |
| Abcb6 |
A |
G |
1: 75,154,646 (GRCm39) |
L263P |
probably damaging |
Het |
| Adamts2 |
A |
C |
11: 50,678,106 (GRCm39) |
E795A |
probably damaging |
Het |
| Avil |
T |
A |
10: 126,844,864 (GRCm39) |
I292N |
probably damaging |
Het |
| Cd300ld2 |
T |
C |
11: 114,904,576 (GRCm39) |
D97G |
probably benign |
Het |
| Cfh |
A |
C |
1: 140,030,137 (GRCm39) |
I912R |
probably damaging |
Het |
| Cyp26c1 |
A |
T |
19: 37,675,604 (GRCm39) |
Q156L |
probably benign |
Het |
| Dhx57 |
T |
C |
17: 80,574,978 (GRCm39) |
I614V |
probably damaging |
Het |
| Dip2c |
T |
A |
13: 9,660,826 (GRCm39) |
S896T |
probably damaging |
Het |
| Dmtn |
G |
T |
14: 70,853,518 (GRCm39) |
P97Q |
probably damaging |
Het |
| Dock6 |
A |
T |
9: 21,713,160 (GRCm39) |
V1931E |
probably damaging |
Het |
| Dsg1c |
T |
A |
18: 20,400,986 (GRCm39) |
L163Q |
probably benign |
Het |
| Esyt3 |
A |
G |
9: 99,202,960 (GRCm39) |
|
probably benign |
Het |
| Fcgbp |
T |
A |
7: 27,816,783 (GRCm39) |
I2415N |
possibly damaging |
Het |
| Fpr-rs6 |
T |
C |
17: 20,403,307 (GRCm39) |
D18G |
probably benign |
Het |
| Fras1 |
T |
C |
5: 96,682,725 (GRCm39) |
V74A |
possibly damaging |
Het |
| Frem3 |
T |
C |
8: 81,341,010 (GRCm39) |
V1101A |
probably benign |
Het |
| Fut8 |
T |
A |
12: 77,496,987 (GRCm39) |
V399E |
probably benign |
Het |
| Galntl5 |
G |
T |
5: 25,391,237 (GRCm39) |
K45N |
probably benign |
Het |
| Gbe1 |
A |
G |
16: 70,357,983 (GRCm39) |
Y669C |
possibly damaging |
Het |
| Gcnt1 |
T |
C |
19: 17,307,493 (GRCm39) |
I77M |
probably benign |
Het |
| Itprid1 |
T |
A |
6: 55,875,075 (GRCm39) |
W342R |
probably damaging |
Het |
| Mark2 |
A |
G |
19: 7,255,405 (GRCm39) |
|
probably null |
Het |
| Muc2 |
A |
T |
7: 141,300,450 (GRCm39) |
|
probably benign |
Het |
| Nacc2 |
C |
T |
2: 25,980,329 (GRCm39) |
V36I |
probably damaging |
Het |
| Nphp1 |
T |
C |
2: 127,611,543 (GRCm39) |
I268V |
probably benign |
Het |
| Oosp3 |
A |
G |
19: 11,678,332 (GRCm39) |
I5V |
probably benign |
Het |
| Or9m1 |
T |
G |
2: 87,733,724 (GRCm39) |
T99P |
possibly damaging |
Het |
| Pex7 |
A |
G |
10: 19,769,990 (GRCm39) |
|
probably benign |
Het |
| Prr14l |
T |
C |
5: 32,988,440 (GRCm39) |
K352E |
probably benign |
Het |
| Rheb |
T |
A |
5: 25,008,709 (GRCm39) |
I170F |
probably benign |
Het |
| Rpgrip1 |
A |
G |
14: 52,382,714 (GRCm39) |
|
probably null |
Het |
| Rps2 |
T |
A |
17: 24,939,650 (GRCm39) |
L107Q |
probably damaging |
Het |
| Rrp1 |
A |
T |
10: 78,240,874 (GRCm39) |
|
probably benign |
Het |
| Rtcb |
A |
T |
10: 85,779,806 (GRCm39) |
V288D |
possibly damaging |
Het |
| Sec14l3 |
T |
C |
11: 4,020,084 (GRCm39) |
F174L |
probably benign |
Het |
| Slc28a1 |
G |
A |
7: 80,775,909 (GRCm39) |
V202M |
probably damaging |
Het |
| Slc44a3 |
A |
T |
3: 121,325,366 (GRCm39) |
C32S |
probably damaging |
Het |
| Syne1 |
G |
A |
10: 5,359,875 (GRCm39) |
|
probably benign |
Het |
| Synrg |
C |
A |
11: 83,892,804 (GRCm39) |
|
probably benign |
Het |
| Tmem219 |
A |
T |
7: 126,488,121 (GRCm39) |
F265I |
probably benign |
Het |
| Tmem94 |
T |
C |
11: 115,683,765 (GRCm39) |
I726T |
probably damaging |
Het |
| Trim37 |
T |
C |
11: 87,087,785 (GRCm39) |
M632T |
probably benign |
Het |
| Trpm6 |
A |
T |
19: 18,790,846 (GRCm39) |
Q627L |
probably damaging |
Het |
| Uvrag |
A |
G |
7: 98,628,984 (GRCm39) |
V361A |
possibly damaging |
Het |
| Yipf3 |
C |
A |
17: 46,562,520 (GRCm39) |
N308K |
possibly damaging |
Het |
| Zfp438 |
A |
G |
18: 5,245,427 (GRCm39) |
|
probably benign |
Het |
| Zmiz1 |
T |
A |
14: 25,657,166 (GRCm39) |
|
probably benign |
Het |
| Zranb3 |
A |
G |
1: 127,888,562 (GRCm39) |
V841A |
probably benign |
Het |
|
| Other mutations in Dpep2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00590:Dpep2
|
APN |
8 |
106,715,453 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01160:Dpep2
|
APN |
8 |
106,713,076 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02071:Dpep2
|
APN |
8 |
106,711,776 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02441:Dpep2
|
APN |
8 |
106,711,723 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02517:Dpep2
|
APN |
8 |
106,715,388 (GRCm39) |
missense |
probably damaging |
1.00 |
|
G1citation:Dpep2
|
UTSW |
8 |
106,711,873 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0504:Dpep2
|
UTSW |
8 |
106,716,620 (GRCm39) |
missense |
probably benign |
0.29 |
|
R1866:Dpep2
|
UTSW |
8 |
106,716,080 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1982:Dpep2
|
UTSW |
8 |
106,716,087 (GRCm39) |
nonsense |
probably null |
|
|
R2172:Dpep2
|
UTSW |
8 |
106,715,630 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R2399:Dpep2
|
UTSW |
8 |
106,716,224 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4369:Dpep2
|
UTSW |
8 |
106,711,707 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4499:Dpep2
|
UTSW |
8 |
106,712,114 (GRCm39) |
missense |
probably benign |
0.32 |
|
R4500:Dpep2
|
UTSW |
8 |
106,712,114 (GRCm39) |
missense |
probably benign |
0.32 |
|
R4774:Dpep2
|
UTSW |
8 |
106,717,388 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R5114:Dpep2
|
UTSW |
8 |
106,712,825 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5727:Dpep2
|
UTSW |
8 |
106,713,075 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6052:Dpep2
|
UTSW |
8 |
106,717,270 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R6177:Dpep2
|
UTSW |
8 |
106,712,831 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6658:Dpep2
|
UTSW |
8 |
106,716,542 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6822:Dpep2
|
UTSW |
8 |
106,711,873 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7854:Dpep2
|
UTSW |
8 |
106,716,160 (GRCm39) |
missense |
|
|
|
R7866:Dpep2
|
UTSW |
8 |
106,716,113 (GRCm39) |
missense |
|
|
|
R8169:Dpep2
|
UTSW |
8 |
106,722,849 (GRCm39) |
missense |
|
|
|
R9047:Dpep2
|
UTSW |
8 |
106,715,944 (GRCm39) |
missense |
|
|
|
R9203:Dpep2
|
UTSW |
8 |
106,712,885 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9222:Dpep2
|
UTSW |
8 |
106,723,016 (GRCm39) |
missense |
|
|
|
V7732:Dpep2
|
UTSW |
8 |
106,715,892 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-12-18 |
Incidental Mutation