Incidental Mutation 'IGL01160:Dpep2'
| ID |
53711 |
| 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: 0.144)
|
| Stock # |
IGL01160
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
106711577-106732658 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 106713076 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 440
(V440M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154250
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034373]
[ENSMUST00000117555]
[ENSMUST00000142898]
[ENSMUST00000227363]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
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 |
unknown
Transcript: ENSMUST00000081998
AA Change: V449M
|
| SMART Domains |
Protein: ENSMUSP00000080659
Gene: ENSMUSG00000115067
AA Change: V449M
| 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 |
possibly damaging
Transcript: ENSMUST00000227363
AA Change: V440M
PolyPhen 2
Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)
|
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp11a |
A |
G |
8: 12,894,609 (GRCm39) |
T188A |
probably damaging |
Het |
| Bfsp2 |
A |
G |
9: 103,357,367 (GRCm39) |
V20A |
probably benign |
Het |
| Btn1a1 |
G |
A |
13: 23,645,907 (GRCm39) |
T154M |
possibly damaging |
Het |
| Ccdc117 |
T |
C |
11: 5,481,532 (GRCm39) |
S200G |
probably benign |
Het |
| Col24a1 |
G |
A |
3: 145,213,468 (GRCm39) |
G1358S |
probably damaging |
Het |
| Crlf2 |
T |
C |
5: 109,705,436 (GRCm39) |
T40A |
possibly damaging |
Het |
| Cstf2 |
T |
A |
X: 132,961,478 (GRCm39) |
|
probably benign |
Het |
| Dcdc2a |
A |
G |
13: 25,303,312 (GRCm39) |
D281G |
probably benign |
Het |
| Dmd |
T |
C |
X: 82,968,567 (GRCm39) |
L1855P |
probably damaging |
Het |
| Dnajc5g |
T |
C |
5: 31,267,529 (GRCm39) |
V112A |
probably benign |
Het |
| Dnmt1 |
G |
A |
9: 20,828,615 (GRCm39) |
P828S |
possibly damaging |
Het |
| Dock3 |
A |
T |
9: 106,783,887 (GRCm39) |
S268R |
probably damaging |
Het |
| F8 |
A |
T |
X: 74,331,667 (GRCm39) |
M741K |
probably damaging |
Het |
| Fermt3 |
C |
T |
19: 6,980,626 (GRCm39) |
|
probably null |
Het |
| Fosb |
A |
G |
7: 19,041,039 (GRCm39) |
|
probably null |
Het |
| Gm3238 |
C |
A |
10: 77,606,717 (GRCm39) |
|
probably benign |
Het |
| Hyal5 |
T |
A |
6: 24,876,480 (GRCm39) |
S118T |
possibly damaging |
Het |
| Igf2r |
T |
C |
17: 12,923,662 (GRCm39) |
D1140G |
possibly damaging |
Het |
| Ighmbp2 |
G |
T |
19: 3,326,750 (GRCm39) |
|
probably benign |
Het |
| Irf3 |
C |
A |
7: 44,648,220 (GRCm39) |
D28E |
possibly damaging |
Het |
| Ly6i |
A |
T |
15: 74,851,881 (GRCm39) |
I96N |
possibly damaging |
Het |
| Macrod2 |
T |
C |
2: 140,666,962 (GRCm39) |
|
probably benign |
Het |
| Or2b4 |
A |
G |
17: 38,116,941 (GRCm39) |
R302G |
probably benign |
Het |
| Or4c117 |
A |
T |
2: 88,956,072 (GRCm39) |
M1K |
probably null |
Het |
| Or4f15 |
A |
G |
2: 111,814,278 (GRCm39) |
L47P |
probably damaging |
Het |
| Or52z1 |
C |
T |
7: 103,436,843 (GRCm39) |
G214R |
probably damaging |
Het |
| Otof |
A |
T |
5: 30,538,879 (GRCm39) |
M1128K |
probably benign |
Het |
| Parp9 |
A |
T |
16: 35,768,368 (GRCm39) |
I183F |
probably damaging |
Het |
| Pbsn |
T |
C |
X: 76,886,177 (GRCm39) |
N147S |
probably benign |
Het |
| Pcf11 |
A |
G |
7: 92,310,894 (GRCm39) |
S365P |
possibly damaging |
Het |
| Pcnx4 |
T |
G |
12: 72,626,151 (GRCm39) |
V1119G |
probably damaging |
Het |
| Qng1 |
A |
G |
13: 58,529,790 (GRCm39) |
V274A |
probably damaging |
Het |
| Rsf1 |
C |
T |
7: 97,334,791 (GRCm39) |
T1308M |
probably damaging |
Het |
| Sidt2 |
A |
G |
9: 45,854,024 (GRCm39) |
L647P |
probably damaging |
Het |
| Slc28a2b |
A |
C |
2: 122,355,277 (GRCm39) |
|
probably null |
Het |
| Slc7a8 |
A |
G |
14: 54,972,581 (GRCm39) |
V280A |
probably benign |
Het |
| Spart |
T |
A |
3: 55,029,177 (GRCm39) |
F323I |
probably damaging |
Het |
| Supt16 |
A |
T |
14: 52,420,589 (GRCm39) |
D70E |
probably benign |
Het |
| Tmc4 |
T |
C |
7: 3,678,517 (GRCm39) |
Y38C |
possibly damaging |
Het |
| Tmco5b |
G |
T |
2: 113,118,143 (GRCm39) |
|
probably benign |
Het |
| Trav10 |
G |
A |
14: 53,743,239 (GRCm39) |
|
probably benign |
Het |
| Vmn2r28 |
A |
T |
7: 5,489,477 (GRCm39) |
M454K |
probably damaging |
Het |
| Vmn2r85 |
T |
C |
10: 130,254,690 (GRCm39) |
T665A |
probably benign |
Het |
| Yipf7 |
T |
C |
5: 69,676,660 (GRCm39) |
I160V |
probably benign |
Het |
| Zc3h18 |
T |
C |
8: 123,134,989 (GRCm39) |
|
probably benign |
Het |
| Zfp429 |
G |
A |
13: 67,539,132 (GRCm39) |
S91L |
probably damaging |
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 |
|
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 |
|
IGL02836:Dpep2
|
APN |
8 |
106,717,227 (GRCm39) |
critical splice donor site |
probably null |
|
|
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 |
2013-06-28 |
Incidental Mutation