Incidental Mutation 'IGL00920:Dpp9'
ID |
29268 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Dpp9
|
Ensembl Gene |
ENSMUSG00000001229 |
Gene Name |
dipeptidylpeptidase 9 |
Synonyms |
DPRP2, 6430584G11Rik |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL00920
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
56493807-56525905 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 56507599 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 357
(T357A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000046604
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038794]
|
AlphaFold |
Q8BVG4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000038794
AA Change: T357A
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000046604 Gene: ENSMUSG00000001229 AA Change: T357A
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
|
Coding Region Coverage |
|
Validation Efficiency |
|
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: 25 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Cd209e |
T |
C |
8: 3,899,187 (GRCm39) |
D175G |
probably damaging |
Het |
Cep78 |
T |
C |
19: 15,958,850 (GRCm39) |
I165V |
probably benign |
Het |
Coa7 |
G |
T |
4: 108,195,505 (GRCm39) |
G145C |
possibly damaging |
Het |
Gm42416 |
T |
A |
18: 37,085,820 (GRCm39) |
M1K |
probably null |
Het |
Hnrnpm |
C |
A |
17: 33,868,876 (GRCm39) |
R517L |
probably damaging |
Het |
Kcnh5 |
A |
T |
12: 75,023,267 (GRCm39) |
D600E |
probably damaging |
Het |
Msantd5f1 |
T |
A |
4: 73,605,679 (GRCm39) |
|
probably benign |
Het |
Ndst4 |
A |
G |
3: 125,231,860 (GRCm39) |
D143G |
probably damaging |
Het |
Nrros |
A |
G |
16: 31,966,438 (GRCm39) |
F14S |
probably benign |
Het |
Or5g9 |
A |
T |
2: 85,552,583 (GRCm39) |
Y278F |
probably damaging |
Het |
Or8g2b |
T |
C |
9: 39,751,230 (GRCm39) |
F167L |
probably benign |
Het |
Pcdh7 |
A |
T |
5: 57,877,473 (GRCm39) |
I343F |
probably damaging |
Het |
Piwil4 |
C |
T |
9: 14,638,733 (GRCm39) |
R264H |
probably damaging |
Het |
Pnpt1 |
A |
G |
11: 29,107,087 (GRCm39) |
|
probably benign |
Het |
Pycr2 |
T |
A |
1: 180,733,958 (GRCm39) |
|
probably benign |
Het |
Rfx7 |
T |
A |
9: 72,500,638 (GRCm39) |
Y133N |
probably damaging |
Het |
Slc17a3 |
A |
G |
13: 24,040,464 (GRCm39) |
I263V |
probably benign |
Het |
Spink5 |
A |
T |
18: 44,136,276 (GRCm39) |
E562D |
probably damaging |
Het |
Spty2d1 |
T |
C |
7: 46,648,735 (GRCm39) |
R65G |
probably damaging |
Het |
Thbs1 |
C |
T |
2: 117,943,682 (GRCm39) |
T100I |
probably damaging |
Het |
Triml1 |
T |
C |
8: 43,591,719 (GRCm39) |
N213S |
probably damaging |
Het |
Trp53bp2 |
T |
C |
1: 182,272,219 (GRCm39) |
|
probably benign |
Het |
Vmn2r9 |
T |
C |
5: 108,995,890 (GRCm39) |
I253V |
possibly damaging |
Het |
Zan |
C |
T |
5: 137,462,786 (GRCm39) |
V798I |
unknown |
Het |
Zfp608 |
C |
T |
18: 55,022,903 (GRCm39) |
M1504I |
probably benign |
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 |
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 |
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 |
2013-04-17 |