Incidental Mutation 'R2399:Dpep2'
| ID |
248630 |
| 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 # |
R2399 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
106711577-106732658 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 106716224 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 135
(S135P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034373
(fasta)
|
| 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: S135P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000034373
Gene: ENSMUSG00000053687
AA Change: S135P
| 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: S230P
|
| SMART Domains |
Protein: ENSMUSP00000080659
Gene: ENSMUSG00000115067
AA Change: S230P
| 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: S42P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000113877
Gene: ENSMUSG00000053687
AA Change: S42P
| 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: S221P
PolyPhen 2
Score 0.784 (Sensitivity: 0.85; Specificity: 0.93)
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.8%
- 20x: 93.4%
|
| 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 |
|---|
| 2310003L06Rik |
A |
G |
5: 88,120,338 (GRCm39) |
E365G |
probably damaging |
Het |
| Abtb1 |
G |
A |
6: 88,815,720 (GRCm39) |
T221M |
possibly damaging |
Het |
| Atp2b1 |
T |
A |
10: 98,835,785 (GRCm39) |
I510N |
probably benign |
Het |
| Atr |
T |
A |
9: 95,753,652 (GRCm39) |
H751Q |
probably benign |
Het |
| Cacna1d |
T |
C |
14: 29,774,444 (GRCm39) |
D1650G |
probably benign |
Het |
| Cd93 |
A |
G |
2: 148,284,071 (GRCm39) |
I425T |
probably benign |
Het |
| Gm10717 |
A |
G |
9: 3,025,532 (GRCm39) |
Y39C |
probably benign |
Het |
| Heatr4 |
T |
C |
12: 84,027,107 (GRCm39) |
H50R |
probably benign |
Het |
| Itga6 |
T |
C |
2: 71,650,358 (GRCm39) |
Y135H |
probably damaging |
Het |
| Kat6b |
AGAGGAGGAGGAGGAGGAGGA |
AGAGGAGGAGGAGGAGGA |
14: 21,712,417 (GRCm39) |
|
probably benign |
Het |
| Myh15 |
T |
C |
16: 48,957,952 (GRCm39) |
I923T |
probably damaging |
Het |
| Or5b108 |
T |
A |
19: 13,168,709 (GRCm39) |
I226K |
probably benign |
Het |
| Or7e170 |
C |
T |
9: 19,795,220 (GRCm39) |
C127Y |
probably damaging |
Het |
| Or7g16 |
T |
A |
9: 18,727,323 (GRCm39) |
D89V |
probably benign |
Het |
| Styxl1 |
C |
T |
5: 135,776,635 (GRCm39) |
E318K |
possibly damaging |
Het |
| Tmcc1 |
C |
CAT |
6: 116,019,831 (GRCm39) |
|
probably null |
Het |
| Zc3h7a |
G |
A |
16: 10,965,265 (GRCm39) |
R623C |
probably damaging |
Het |
| Zfp608 |
T |
C |
18: 55,030,974 (GRCm39) |
K989E |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCTGTTCAGAGCTGTAGGC -3'
(R):5'- ATTGGTGCCCCAGAAATGAC -3'
Sequencing Primer
(F):5'- GGTGATTATTTTCAGGAGCTATACAG -3'
(R):5'- GGTGCCCCAGAAATGACAATTTAGTC -3'
|
| Posted On |
2014-11-11 |
Incidental Mutation