Incidental Mutation 'R4500:Dpep2'
| ID |
331786 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R4500 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
106711577-106732658 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 106712114 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 282
(E282G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113877
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034373]
[ENSMUST00000117555]
[ENSMUST00000227363]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034373
AA Change: E375G
PolyPhen 2
Score 0.320 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000034373
Gene: ENSMUSG00000053687
AA Change: E375G
| 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: E484G
|
| SMART Domains |
Protein: ENSMUSP00000080659
Gene: ENSMUSG00000115067
AA Change: E484G
| 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
AA Change: E282G
PolyPhen 2
Score 0.320 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000113877
Gene: ENSMUSG00000053687
AA Change: E282G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Peptidase_M19
|
1 |
308 |
5.7e-107 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149057
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150001
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212917
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227363
AA Change: E475G
PolyPhen 2
Score 0.270 (Sensitivity: 0.91; Specificity: 0.88)
|
| Meta Mutation Damage Score |
0.1552 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
| 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: 18 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310034C09Rik |
T |
A |
16: 88,556,429 (GRCm39) |
C214* |
probably null |
Het |
| Ap3s1 |
T |
C |
18: 46,923,067 (GRCm39) |
V186A |
possibly damaging |
Het |
| Dennd4a |
G |
A |
9: 64,817,405 (GRCm39) |
D1680N |
possibly damaging |
Het |
| Duxf4 |
C |
T |
10: 58,071,528 (GRCm39) |
A229T |
possibly damaging |
Het |
| Fam83d |
A |
G |
2: 158,627,187 (GRCm39) |
E292G |
probably benign |
Het |
| Hook1 |
T |
C |
4: 95,881,437 (GRCm39) |
|
probably null |
Het |
| Iqca1l |
T |
C |
5: 24,753,275 (GRCm39) |
D459G |
possibly damaging |
Het |
| Klhl18 |
C |
T |
9: 110,259,034 (GRCm39) |
G445S |
probably damaging |
Het |
| Or14a257 |
A |
T |
7: 86,138,127 (GRCm39) |
C211S |
probably benign |
Het |
| Or51a43 |
A |
G |
7: 103,717,402 (GRCm39) |
S279P |
probably damaging |
Het |
| Pias3 |
C |
T |
3: 96,608,734 (GRCm39) |
R259W |
probably damaging |
Het |
| Prr11 |
T |
G |
11: 86,989,533 (GRCm39) |
K279N |
possibly damaging |
Het |
| Sugp1 |
T |
C |
8: 70,509,038 (GRCm39) |
S104P |
probably benign |
Het |
| Tmem239 |
A |
G |
2: 130,249,077 (GRCm39) |
Y145C |
possibly damaging |
Het |
| Uchl4 |
T |
C |
9: 64,143,163 (GRCm39) |
F215L |
possibly damaging |
Het |
| Usp5 |
C |
G |
6: 124,799,593 (GRCm39) |
K318N |
possibly damaging |
Het |
| Usp7 |
C |
T |
16: 8,513,759 (GRCm39) |
E785K |
possibly damaging |
Het |
| Vmn2r66 |
G |
A |
7: 84,657,162 (GRCm39) |
A81V |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGACAGTTGGTGGTCAGCG -3'
(R):5'- GGTGACGACTATCTTCTCTGC -3'
Sequencing Primer
(F):5'- TGGTGGTCAGCGGCTCTC -3'
(R):5'- TGGTCTACAGAGCGAGTTCC -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation