Incidental Mutation 'R6822:Dpep2'
ID |
537673 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dpep2
|
Ensembl Gene |
ENSMUSG00000115067 |
Gene Name |
dipeptidase 2 |
Synonyms |
F630103D06Rik, MBD-2 |
MMRRC Submission |
044934-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.144)
|
Stock # |
R6822 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
106711577-106732658 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 106711873 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 518
(M518K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000154250
(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: M418K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000034373 Gene: ENSMUSG00000053687 AA Change: M418K
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
31 |
N/A |
INTRINSIC |
Pfam:Peptidase_M19
|
80 |
401 |
3.4e-112 |
PFAM |
|
Predicted Effect |
|
SMART Domains |
Protein: ENSMUSP00000080659 Gene: ENSMUSG00000115067 AA Change: M527K
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 |
probably benign
Transcript: ENSMUST00000117555
AA Change: M325K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000113877 Gene: ENSMUSG00000053687 AA Change: M325K
Domain | Start | End | E-Value | Type |
Pfam:Peptidase_M19
|
1 |
308 |
5.7e-107 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000227363
AA Change: M518K
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
Validation Efficiency |
94% (46/49) |
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: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam11 |
G |
A |
11: 102,667,501 (GRCm39) |
R687Q |
possibly damaging |
Het |
AI987944 |
A |
G |
7: 41,024,232 (GRCm39) |
L249P |
probably damaging |
Het |
Ankrd28 |
T |
A |
14: 31,458,797 (GRCm39) |
|
probably null |
Het |
Bahcc1 |
T |
C |
11: 120,178,547 (GRCm39) |
S2369P |
probably damaging |
Het |
Birc6 |
T |
C |
17: 74,887,377 (GRCm39) |
S902P |
possibly damaging |
Het |
Birc6 |
A |
T |
17: 74,905,039 (GRCm39) |
K1277N |
probably damaging |
Het |
Brwd1 |
T |
C |
16: 95,842,474 (GRCm39) |
E821G |
probably benign |
Het |
Cct8l1 |
T |
C |
5: 25,722,937 (GRCm39) |
S551P |
possibly damaging |
Het |
Cmtm1 |
TCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGG |
TCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGG |
8: 105,036,334 (GRCm39) |
|
probably null |
Het |
Cyp2c39 |
A |
T |
19: 39,525,261 (GRCm39) |
D188V |
probably damaging |
Het |
Dclk3 |
G |
T |
9: 111,268,405 (GRCm39) |
A25S |
probably benign |
Het |
Dst |
T |
C |
1: 34,314,755 (GRCm39) |
V6462A |
probably damaging |
Het |
Entpd3 |
T |
C |
9: 120,391,104 (GRCm39) |
|
probably null |
Het |
Epm2aip1 |
T |
C |
9: 111,101,624 (GRCm39) |
V199A |
probably damaging |
Het |
Fam193b |
A |
G |
13: 55,689,504 (GRCm39) |
|
probably benign |
Het |
Fam50b |
G |
A |
13: 34,931,084 (GRCm39) |
E187K |
possibly damaging |
Het |
Fat1 |
A |
G |
8: 45,479,441 (GRCm39) |
D2829G |
probably damaging |
Het |
Fcgbp |
T |
A |
7: 27,806,781 (GRCm39) |
Y2250N |
probably damaging |
Het |
Gm40460 |
ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
7: 141,794,450 (GRCm39) |
|
probably benign |
Het |
Grik5 |
C |
T |
7: 24,745,780 (GRCm39) |
R431Q |
possibly damaging |
Het |
H2-Aa |
C |
T |
17: 34,506,651 (GRCm39) |
|
probably null |
Het |
Igsf9 |
T |
A |
1: 172,324,730 (GRCm39) |
S883T |
possibly damaging |
Het |
Kcnh7 |
T |
G |
2: 62,618,248 (GRCm39) |
I414L |
probably damaging |
Het |
Kcnma1 |
T |
C |
14: 24,053,812 (GRCm39) |
|
probably null |
Het |
Kcnmb1 |
T |
C |
11: 33,914,686 (GRCm39) |
|
probably benign |
Het |
Kmt2d |
A |
G |
15: 98,747,340 (GRCm39) |
|
probably benign |
Het |
Krt9 |
TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC |
TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC |
11: 100,079,903 (GRCm39) |
|
probably benign |
Het |
Map3k13 |
G |
A |
16: 21,741,013 (GRCm39) |
S780N |
probably benign |
Het |
Nlgn1 |
T |
C |
3: 26,187,796 (GRCm39) |
T30A |
probably benign |
Het |
Nucb1 |
A |
G |
7: 45,148,289 (GRCm39) |
F175L |
probably damaging |
Het |
Pax6 |
T |
A |
2: 105,516,268 (GRCm39) |
V182E |
probably benign |
Het |
Ptger1 |
A |
G |
8: 84,395,279 (GRCm39) |
D252G |
probably benign |
Het |
Rexo4 |
T |
C |
2: 26,850,283 (GRCm39) |
D275G |
probably damaging |
Het |
Ripk4 |
T |
C |
16: 97,547,236 (GRCm39) |
D342G |
probably damaging |
Het |
Rpl10l |
A |
T |
12: 66,330,987 (GRCm39) |
C49S |
possibly damaging |
Het |
Sema7a |
T |
C |
9: 57,867,619 (GRCm39) |
F457S |
probably damaging |
Het |
Shank3 |
G |
A |
15: 89,415,830 (GRCm39) |
D155N |
probably damaging |
Het |
Smpd3 |
G |
A |
8: 106,992,596 (GRCm39) |
|
probably benign |
Het |
Smpd4 |
T |
C |
16: 17,458,097 (GRCm39) |
V465A |
probably damaging |
Het |
Sohlh2 |
T |
C |
3: 55,115,107 (GRCm39) |
V364A |
probably damaging |
Het |
Sos2 |
C |
T |
12: 69,697,423 (GRCm39) |
R99Q |
probably damaging |
Het |
Spry2 |
G |
A |
14: 106,130,791 (GRCm39) |
Q132* |
probably null |
Het |
Tbx19 |
G |
T |
1: 164,967,709 (GRCm39) |
P346Q |
probably damaging |
Het |
Tdrd6 |
A |
G |
17: 43,938,106 (GRCm39) |
Y981H |
probably damaging |
Het |
Tinag |
T |
C |
9: 76,938,984 (GRCm39) |
K165E |
probably benign |
Het |
Tubb4a |
A |
T |
17: 57,387,904 (GRCm39) |
I374N |
probably damaging |
Het |
Umodl1 |
C |
T |
17: 31,205,528 (GRCm39) |
Q708* |
probably null |
Het |
Vmn2r3 |
A |
T |
3: 64,194,876 (GRCm39) |
V14E |
probably benign |
Het |
Zfp82 |
G |
A |
7: 29,755,712 (GRCm39) |
L457F |
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 |
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 |
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'- CTGGGTGGGTATCCTCTAAAAG -3'
(R):5'- TTCGAGGAAACCTGCTTCGG -3'
Sequencing Primer
(F):5'- GGTGGGTATCCTCTAAAAGTCACAC -3'
(R):5'- AGGAAACCTGCTTCGGGTCTTC -3'
|
Posted On |
2018-10-18 |