Incidental Mutation 'IGL00590:Dpep2'
| ID |
10298 |
| 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 # |
IGL00590
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
106711577-106732658 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 106715453 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 356
(M356K)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034373]
[ENSMUST00000117555]
[ENSMUST00000142898]
[ENSMUST00000227363]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034373
AA Change: M258K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000034373
Gene: ENSMUSG00000053687
AA Change: M258K
| 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 damaging
Transcript: ENSMUST00000081998
AA Change: M356K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000080659
Gene: ENSMUSG00000115067
AA Change: M356K
| 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 damaging
Transcript: ENSMUST00000117555
AA Change: M165K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000113877
Gene: ENSMUSG00000053687
AA Change: M165K
| 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 damaging
Transcript: ENSMUST00000227363
AA Change: M347K
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca16 |
T |
G |
7: 120,023,038 (GRCm39) |
F58C |
probably damaging |
Het |
| Adgrf5 |
G |
T |
17: 43,764,038 (GRCm39) |
G1320V |
probably damaging |
Het |
| Akap13 |
A |
G |
7: 75,260,417 (GRCm39) |
K211E |
probably benign |
Het |
| Akap8l |
T |
C |
17: 32,552,071 (GRCm39) |
D402G |
possibly damaging |
Het |
| Akna |
T |
C |
4: 63,290,115 (GRCm39) |
I1198V |
probably benign |
Het |
| Apaf1 |
T |
A |
10: 90,859,650 (GRCm39) |
I832F |
probably damaging |
Het |
| Cbl |
A |
C |
9: 44,112,495 (GRCm39) |
L67V |
probably damaging |
Het |
| Chl1 |
T |
C |
6: 103,670,022 (GRCm39) |
Y471H |
probably benign |
Het |
| Cystm1 |
T |
A |
18: 36,499,728 (GRCm39) |
Y48N |
unknown |
Het |
| Dennd5b |
T |
C |
6: 148,969,806 (GRCm39) |
T216A |
probably benign |
Het |
| Dtymk |
A |
G |
1: 93,722,446 (GRCm39) |
|
probably null |
Het |
| Fam91a1 |
A |
G |
15: 58,287,565 (GRCm39) |
D4G |
possibly damaging |
Het |
| Fbxl20 |
A |
G |
11: 97,983,955 (GRCm39) |
L306P |
probably damaging |
Het |
| Fchsd1 |
C |
T |
18: 38,098,946 (GRCm39) |
|
probably benign |
Het |
| Fndc1 |
G |
A |
17: 7,983,933 (GRCm39) |
T1331I |
unknown |
Het |
| Gpatch8 |
T |
C |
11: 102,371,375 (GRCm39) |
D721G |
unknown |
Het |
| Gsg1 |
A |
T |
6: 135,221,348 (GRCm39) |
I17N |
possibly damaging |
Het |
| Heyl |
A |
G |
4: 123,140,423 (GRCm39) |
*327W |
probably null |
Het |
| Kif13b |
G |
T |
14: 65,016,911 (GRCm39) |
R1359L |
probably damaging |
Het |
| Map3k14 |
C |
T |
11: 103,128,380 (GRCm39) |
G414S |
probably damaging |
Het |
| Meis2 |
C |
T |
2: 115,699,274 (GRCm39) |
A330T |
probably damaging |
Het |
| Mrpl9 |
T |
C |
3: 94,351,003 (GRCm39) |
L61P |
probably damaging |
Het |
| Mrps6 |
A |
G |
16: 91,896,548 (GRCm39) |
N38D |
probably benign |
Het |
| Muc4 |
C |
T |
16: 32,575,465 (GRCm39) |
T1407I |
probably benign |
Het |
| Nup107 |
A |
G |
10: 117,599,708 (GRCm39) |
Y604H |
probably damaging |
Het |
| Pgm2l1 |
T |
C |
7: 99,904,826 (GRCm39) |
|
probably null |
Het |
| Pisd |
T |
C |
5: 32,895,756 (GRCm39) |
I441V |
probably benign |
Het |
| Rb1cc1 |
T |
C |
1: 6,308,520 (GRCm39) |
F52S |
probably damaging |
Het |
| Rnft1 |
T |
A |
11: 86,386,740 (GRCm39) |
W383R |
probably damaging |
Het |
| Tas2r104 |
A |
T |
6: 131,662,530 (GRCm39) |
W60R |
probably damaging |
Het |
| Tlr11 |
A |
G |
14: 50,598,373 (GRCm39) |
T120A |
probably benign |
Het |
| Tmem150b |
T |
G |
7: 4,726,896 (GRCm39) |
I71L |
probably benign |
Het |
| Zfp296 |
A |
G |
7: 19,311,760 (GRCm39) |
D89G |
possibly damaging |
Het |
|
| Other mutations in Dpep2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2012-12-06 |
Incidental Mutation