Incidental Mutation 'R0100:Dpp9'
ID |
16286 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dpp9
|
Ensembl Gene |
ENSMUSG00000001229 |
Gene Name |
dipeptidylpeptidase 9 |
Synonyms |
DPRP2, 6430584G11Rik |
MMRRC Submission |
038386-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R0100 (G1)
|
Quality Score |
|
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
56493807-56525905 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 56512854 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Aspartic acid
at position 118
(G118D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000046604
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038794]
|
AlphaFold |
Q8BVG4 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000038794
AA Change: G118D
PolyPhen 2
Score 0.747 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000046604 Gene: ENSMUSG00000001229 AA Change: G118D
Domain | Start | End | E-Value | Type |
low complexity region
|
122 |
133 |
N/A |
INTRINSIC |
Pfam:DPPIV_N
|
145 |
569 |
5.2e-109 |
PFAM |
Pfam:Peptidase_S15
|
617 |
793 |
2.8e-10 |
PFAM |
Pfam:Peptidase_S9
|
657 |
862 |
2.5e-57 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223616
|
Meta Mutation Damage Score |
0.1795 |
Coding Region Coverage |
- 1x: 90.3%
- 3x: 88.1%
- 10x: 82.7%
- 20x: 75.2%
|
Validation Efficiency |
89% (68/76) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is a member of the S9B family in clan SC of the serine proteases. The protein has been shown to have post-proline dipeptidyl aminopeptidase activity, cleaving Xaa-Pro dipeptides from the N-termini of proteins. Although the activity of this protein is similar to that of dipeptidyl peptidase 4 (DPP4), it does not appear to be membrane bound. In general, dipeptidyl peptidases appear to be involved in the regulation of the activity of their substrates and have been linked to a variety of diseases including type 2 diabetes, obesity and cancer. Several transcript variants of this gene have been described but not fully characterized. [provided by RefSeq, Jul 2008] PHENOTYPE: Homozygous mutants display partial neonatal lethality and complete lethality at preweaning stages with defects suckling due to undeveveloped tongue muscle. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Agrn |
A |
G |
4: 156,259,415 (GRCm39) |
C814R |
probably damaging |
Het |
Aoc1 |
T |
C |
6: 48,885,538 (GRCm39) |
I681T |
possibly damaging |
Het |
Atp13a4 |
T |
C |
16: 29,240,542 (GRCm39) |
H793R |
probably damaging |
Het |
Atp6v0a4 |
T |
C |
6: 38,053,750 (GRCm39) |
I351V |
probably benign |
Het |
Bbof1 |
T |
A |
12: 84,457,829 (GRCm39) |
D31E |
probably benign |
Het |
Cpxm2 |
T |
A |
7: 131,656,600 (GRCm39) |
H554L |
possibly damaging |
Het |
Ddx55 |
C |
T |
5: 124,694,845 (GRCm39) |
T91I |
probably damaging |
Het |
Dhx57 |
T |
C |
17: 80,582,585 (GRCm39) |
D340G |
possibly damaging |
Het |
Dnah1 |
C |
T |
14: 30,984,109 (GRCm39) |
|
probably null |
Het |
Etl4 |
T |
C |
2: 20,344,716 (GRCm39) |
S4P |
probably benign |
Het |
Fat4 |
A |
C |
3: 39,034,397 (GRCm39) |
N2683T |
probably damaging |
Het |
Gabrb2 |
A |
G |
11: 42,378,141 (GRCm39) |
D119G |
probably damaging |
Het |
Garre1 |
A |
G |
7: 33,953,436 (GRCm39) |
I442T |
possibly damaging |
Het |
Greb1 |
T |
A |
12: 16,730,225 (GRCm39) |
Q1734L |
probably benign |
Het |
Gtf2ird2 |
T |
C |
5: 134,245,857 (GRCm39) |
L705P |
probably damaging |
Het |
H13 |
T |
A |
2: 152,531,783 (GRCm39) |
|
probably null |
Het |
Hgs |
T |
G |
11: 120,373,678 (GRCm39) |
Y708D |
possibly damaging |
Het |
Hip1 |
T |
C |
5: 135,465,307 (GRCm39) |
D367G |
probably benign |
Het |
Ift140 |
C |
T |
17: 25,309,928 (GRCm39) |
Q1112* |
probably null |
Het |
Il17b |
A |
G |
18: 61,823,342 (GRCm39) |
M59V |
probably benign |
Het |
Lpin3 |
T |
C |
2: 160,747,260 (GRCm39) |
Y829H |
probably damaging |
Het |
Lrrk2 |
A |
T |
15: 91,629,999 (GRCm39) |
N1230I |
probably damaging |
Het |
Mindy2 |
C |
A |
9: 70,514,731 (GRCm39) |
|
probably benign |
Het |
Nup210 |
T |
G |
6: 91,046,175 (GRCm39) |
E586A |
probably benign |
Het |
Or1j17 |
A |
T |
2: 36,578,923 (GRCm39) |
N303I |
probably benign |
Het |
Or2bd2 |
C |
T |
7: 6,443,399 (GRCm39) |
R167C |
probably damaging |
Het |
Or5be3 |
T |
C |
2: 86,863,939 (GRCm39) |
T209A |
probably benign |
Het |
Osgepl1 |
A |
G |
1: 53,362,372 (GRCm39) |
I405V |
probably damaging |
Het |
Pdcd11 |
T |
C |
19: 47,091,105 (GRCm39) |
S360P |
probably benign |
Het |
Plekha6 |
T |
C |
1: 133,197,915 (GRCm39) |
S271P |
probably damaging |
Het |
Plekhs1 |
A |
G |
19: 56,466,934 (GRCm39) |
E255G |
probably damaging |
Het |
Pram1 |
T |
A |
17: 33,860,373 (GRCm39) |
N313K |
possibly damaging |
Het |
Rapgef5 |
C |
T |
12: 117,685,034 (GRCm39) |
S261L |
probably benign |
Het |
Spint5 |
T |
A |
2: 164,558,920 (GRCm39) |
C49S |
probably damaging |
Het |
Tex22 |
T |
A |
12: 113,052,392 (GRCm39) |
I150N |
probably benign |
Het |
Thoc6 |
A |
T |
17: 23,888,824 (GRCm39) |
W195R |
probably damaging |
Het |
Tmem106a |
T |
C |
11: 101,477,084 (GRCm39) |
S98P |
probably benign |
Het |
Tnfrsf18 |
A |
G |
4: 156,112,823 (GRCm39) |
T170A |
probably benign |
Het |
Tor1aip1 |
A |
T |
1: 155,882,821 (GRCm39) |
D342E |
probably damaging |
Het |
Trav7-6 |
T |
C |
14: 53,954,529 (GRCm39) |
S20P |
probably damaging |
Het |
Trpc6 |
C |
T |
9: 8,653,035 (GRCm39) |
P614S |
probably damaging |
Het |
Washc5 |
A |
G |
15: 59,215,947 (GRCm39) |
F811L |
possibly damaging |
Het |
|
Other mutations in Dpp9 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00895:Dpp9
|
APN |
17 |
56,512,240 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL00920:Dpp9
|
APN |
17 |
56,507,599 (GRCm39) |
missense |
probably benign |
0.01 |
IGL01568:Dpp9
|
APN |
17 |
56,498,159 (GRCm39) |
missense |
probably benign |
|
IGL01583:Dpp9
|
APN |
17 |
56,518,666 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01613:Dpp9
|
APN |
17 |
56,497,713 (GRCm39) |
missense |
probably benign |
|
IGL03371:Dpp9
|
APN |
17 |
56,494,377 (GRCm39) |
missense |
probably benign |
0.00 |
R0100:Dpp9
|
UTSW |
17 |
56,512,854 (GRCm39) |
missense |
possibly damaging |
0.75 |
R0418:Dpp9
|
UTSW |
17 |
56,501,404 (GRCm39) |
splice site |
probably benign |
|
R1163:Dpp9
|
UTSW |
17 |
56,506,426 (GRCm39) |
missense |
possibly damaging |
0.90 |
R1680:Dpp9
|
UTSW |
17 |
56,497,103 (GRCm39) |
missense |
probably benign |
0.00 |
R1709:Dpp9
|
UTSW |
17 |
56,501,431 (GRCm39) |
missense |
probably benign |
|
R1762:Dpp9
|
UTSW |
17 |
56,495,362 (GRCm39) |
missense |
probably damaging |
1.00 |
R1809:Dpp9
|
UTSW |
17 |
56,506,038 (GRCm39) |
missense |
probably damaging |
1.00 |
R1853:Dpp9
|
UTSW |
17 |
56,509,885 (GRCm39) |
missense |
probably benign |
0.00 |
R1854:Dpp9
|
UTSW |
17 |
56,509,885 (GRCm39) |
missense |
probably benign |
0.00 |
R2162:Dpp9
|
UTSW |
17 |
56,506,113 (GRCm39) |
missense |
possibly damaging |
0.81 |
R2205:Dpp9
|
UTSW |
17 |
56,506,287 (GRCm39) |
missense |
possibly damaging |
0.87 |
R2301:Dpp9
|
UTSW |
17 |
56,501,973 (GRCm39) |
missense |
probably benign |
0.00 |
R2520:Dpp9
|
UTSW |
17 |
56,513,868 (GRCm39) |
missense |
probably damaging |
1.00 |
R3831:Dpp9
|
UTSW |
17 |
56,506,113 (GRCm39) |
missense |
possibly damaging |
0.81 |
R3833:Dpp9
|
UTSW |
17 |
56,506,113 (GRCm39) |
missense |
possibly damaging |
0.81 |
R4364:Dpp9
|
UTSW |
17 |
56,494,391 (GRCm39) |
missense |
possibly damaging |
0.79 |
R4737:Dpp9
|
UTSW |
17 |
56,505,970 (GRCm39) |
critical splice donor site |
probably null |
|
R4740:Dpp9
|
UTSW |
17 |
56,505,970 (GRCm39) |
critical splice donor site |
probably null |
|
R4741:Dpp9
|
UTSW |
17 |
56,512,286 (GRCm39) |
missense |
probably benign |
|
R4798:Dpp9
|
UTSW |
17 |
56,498,016 (GRCm39) |
missense |
probably damaging |
0.96 |
R4806:Dpp9
|
UTSW |
17 |
56,497,030 (GRCm39) |
missense |
probably damaging |
1.00 |
R5375:Dpp9
|
UTSW |
17 |
56,496,424 (GRCm39) |
nonsense |
probably null |
|
R5709:Dpp9
|
UTSW |
17 |
56,496,393 (GRCm39) |
missense |
probably benign |
|
R5783:Dpp9
|
UTSW |
17 |
56,518,655 (GRCm39) |
missense |
probably damaging |
0.98 |
R6454:Dpp9
|
UTSW |
17 |
56,513,808 (GRCm39) |
missense |
probably damaging |
1.00 |
R6532:Dpp9
|
UTSW |
17 |
56,512,854 (GRCm39) |
missense |
possibly damaging |
0.75 |
R6894:Dpp9
|
UTSW |
17 |
56,495,321 (GRCm39) |
missense |
probably damaging |
1.00 |
R7398:Dpp9
|
UTSW |
17 |
56,496,405 (GRCm39) |
nonsense |
probably null |
|
R7494:Dpp9
|
UTSW |
17 |
56,507,619 (GRCm39) |
missense |
probably damaging |
1.00 |
R7495:Dpp9
|
UTSW |
17 |
56,502,044 (GRCm39) |
missense |
probably benign |
|
R7511:Dpp9
|
UTSW |
17 |
56,512,611 (GRCm39) |
missense |
possibly damaging |
0.52 |
R7556:Dpp9
|
UTSW |
17 |
56,497,012 (GRCm39) |
missense |
possibly damaging |
0.66 |
R8228:Dpp9
|
UTSW |
17 |
56,498,129 (GRCm39) |
missense |
probably damaging |
1.00 |
R8481:Dpp9
|
UTSW |
17 |
56,501,467 (GRCm39) |
missense |
possibly damaging |
0.75 |
R8724:Dpp9
|
UTSW |
17 |
56,512,867 (GRCm39) |
missense |
probably benign |
0.03 |
R8798:Dpp9
|
UTSW |
17 |
56,506,037 (GRCm39) |
missense |
probably damaging |
1.00 |
R9209:Dpp9
|
UTSW |
17 |
56,512,765 (GRCm39) |
missense |
probably damaging |
1.00 |
R9660:Dpp9
|
UTSW |
17 |
56,494,458 (GRCm39) |
missense |
probably damaging |
1.00 |
R9666:Dpp9
|
UTSW |
17 |
56,501,946 (GRCm39) |
missense |
probably damaging |
0.99 |
X0065:Dpp9
|
UTSW |
17 |
56,502,006 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
Posted On |
2013-01-20 |