Incidental Mutation 'IGL01613:Dpp9'
| ID |
92271 |
| 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 # |
IGL01613
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
56493807-56525905 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 56497713 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 687
(H687R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000046604
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038794]
|
| AlphaFold |
Q8BVG4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000038794
AA Change: H687R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000046604
Gene: ENSMUSG00000001229
AA Change: H687R
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aacs |
T |
G |
5: 125,589,716 (GRCm39) |
M446R |
possibly damaging |
Het |
| Abca16 |
A |
G |
7: 120,140,500 (GRCm39) |
N1599S |
probably benign |
Het |
| Ankib1 |
G |
A |
5: 3,763,146 (GRCm39) |
Q528* |
probably null |
Het |
| Ano10 |
A |
T |
9: 122,088,606 (GRCm39) |
L347M |
possibly damaging |
Het |
| Bag6 |
T |
C |
17: 35,361,992 (GRCm39) |
|
probably benign |
Het |
| Bpnt1 |
T |
C |
1: 185,086,191 (GRCm39) |
V182A |
possibly damaging |
Het |
| Capn13 |
G |
T |
17: 73,638,053 (GRCm39) |
T450N |
probably benign |
Het |
| Cbr3 |
A |
T |
16: 93,480,331 (GRCm39) |
E40V |
probably benign |
Het |
| Cdk10 |
T |
C |
8: 123,955,126 (GRCm39) |
I159T |
probably damaging |
Het |
| Cela3b |
T |
C |
4: 137,152,382 (GRCm39) |
D65G |
possibly damaging |
Het |
| Csf2rb |
T |
G |
15: 78,219,502 (GRCm39) |
|
probably benign |
Het |
| Cyp2b19 |
C |
T |
7: 26,462,886 (GRCm39) |
T256I |
possibly damaging |
Het |
| Elovl1 |
T |
C |
4: 118,288,467 (GRCm39) |
V108A |
probably benign |
Het |
| Emb |
T |
A |
13: 117,408,614 (GRCm39) |
N318K |
probably damaging |
Het |
| Ermp1 |
A |
G |
19: 29,617,339 (GRCm39) |
L36P |
probably damaging |
Het |
| Esco2 |
T |
G |
14: 66,064,044 (GRCm39) |
H380P |
possibly damaging |
Het |
| Gm9747 |
G |
A |
1: 82,211,809 (GRCm39) |
|
probably benign |
Het |
| Golga1 |
A |
G |
2: 38,910,138 (GRCm39) |
M603T |
probably benign |
Het |
| Hsph1 |
A |
G |
5: 149,550,743 (GRCm39) |
V411A |
probably benign |
Het |
| Igsf21 |
C |
T |
4: 139,834,675 (GRCm39) |
G66S |
possibly damaging |
Het |
| Ints11 |
T |
C |
4: 155,969,655 (GRCm39) |
|
probably null |
Het |
| Jakmip1 |
G |
T |
5: 37,258,112 (GRCm39) |
A253S |
probably damaging |
Het |
| Met |
A |
G |
6: 17,540,576 (GRCm39) |
Y834C |
probably damaging |
Het |
| Mgl2 |
A |
G |
11: 70,024,984 (GRCm39) |
T2A |
probably benign |
Het |
| Myh2 |
G |
T |
11: 67,088,170 (GRCm39) |
V1929L |
probably benign |
Het |
| Myh8 |
T |
C |
11: 67,192,536 (GRCm39) |
S1472P |
probably benign |
Het |
| Myo1e |
T |
C |
9: 70,248,555 (GRCm39) |
|
probably benign |
Het |
| Ndufaf7 |
A |
G |
17: 79,244,931 (GRCm39) |
I17V |
probably benign |
Het |
| Or4a47 |
T |
C |
2: 89,666,152 (GRCm39) |
T46A |
probably damaging |
Het |
| Or5ak22 |
C |
T |
2: 85,230,515 (GRCm39) |
D121N |
probably damaging |
Het |
| Or5h25 |
A |
T |
16: 58,930,284 (GRCm39) |
S230T |
probably damaging |
Het |
| Or6c6c |
A |
G |
10: 129,541,492 (GRCm39) |
I248M |
probably benign |
Het |
| Or7g18 |
T |
A |
9: 18,786,617 (GRCm39) |
|
probably benign |
Het |
| Or8b50 |
A |
G |
9: 38,517,850 (GRCm39) |
I30V |
probably null |
Het |
| Or8k1 |
T |
G |
2: 86,047,505 (GRCm39) |
D183A |
probably damaging |
Het |
| Ppef2 |
T |
C |
5: 92,383,679 (GRCm39) |
E477G |
probably benign |
Het |
| Scmh1 |
T |
A |
4: 120,387,097 (GRCm39) |
|
probably benign |
Het |
| Scn1a |
C |
A |
2: 66,116,281 (GRCm39) |
D1473Y |
probably damaging |
Het |
| Sdr42e1 |
C |
T |
8: 118,389,676 (GRCm39) |
V322I |
probably benign |
Het |
| Slco1a7 |
G |
T |
6: 141,658,940 (GRCm39) |
T552K |
possibly damaging |
Het |
| Spta1 |
G |
A |
1: 174,035,960 (GRCm39) |
A1089T |
probably damaging |
Het |
| Sufu |
T |
C |
19: 46,464,059 (GRCm39) |
Y424H |
probably damaging |
Het |
| Tgs1 |
T |
C |
4: 3,585,183 (GRCm39) |
F108L |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,805,308 (GRCm39) |
N177S |
probably benign |
Het |
| Tyk2 |
T |
C |
9: 21,031,872 (GRCm39) |
D401G |
probably damaging |
Het |
| Vav1 |
T |
C |
17: 57,614,067 (GRCm39) |
F650L |
possibly damaging |
Het |
| Wdr12 |
T |
C |
1: 60,119,718 (GRCm39) |
H385R |
probably damaging |
Het |
| Xab2 |
T |
C |
8: 3,660,880 (GRCm39) |
M745V |
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 |
|
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 |
|
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 |
2013-12-09 |
Incidental Mutation