Incidental Mutation 'IGL03366:Dpp4'
| ID |
420117 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Dpp4
|
| Ensembl Gene |
ENSMUSG00000035000 |
| Gene Name |
dipeptidylpeptidase 4 |
| Synonyms |
Cd26, THAM, Dpp-4 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL03366
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
62160417-62242575 bp(-) (GRCm39) |
| Type of Mutation |
splice site (3 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 62187301 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000044050
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047812]
|
| AlphaFold |
P28843 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000047812
|
| SMART Domains |
Protein: ENSMUSP00000044050
Gene: ENSMUSG00000035000
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
7 |
29 |
N/A |
INTRINSIC |
|
Pfam:DPPIV_N
|
102 |
473 |
5.7e-110 |
PFAM |
|
Pfam:Abhydrolase_5
|
545 |
752 |
1e-11 |
PFAM |
|
Pfam:DLH
|
546 |
754 |
4e-7 |
PFAM |
|
Pfam:Peptidase_S9
|
551 |
760 |
3.4e-61 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129738
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136879
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is identical to adenosine deaminase complexing protein-2, and to the T-cell activation antigen CD26. It is an intrinsic membrane glycoprotein and a serine exopeptidase that cleaves X-proline dipeptides from the N-terminus of polypeptides. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutants show hypoglycemia, hyperinsulinemia, and increased plasma glucagon-like peptide 1 in glucose tolerance tests. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ap2a2 |
T |
A |
7: 141,209,186 (GRCm39) |
S793T |
probably benign |
Het |
| Btnl6 |
T |
C |
17: 34,727,153 (GRCm39) |
D459G |
probably damaging |
Het |
| Cacna1g |
C |
A |
11: 94,347,977 (GRCm39) |
D704Y |
probably damaging |
Het |
| Cby2 |
A |
G |
14: 75,820,829 (GRCm39) |
S299P |
probably benign |
Het |
| Cry2 |
A |
G |
2: 92,244,060 (GRCm39) |
I371T |
probably damaging |
Het |
| Dock3 |
A |
T |
9: 106,882,632 (GRCm39) |
F384I |
probably benign |
Het |
| Hecw1 |
G |
T |
13: 14,552,382 (GRCm39) |
D72E |
probably damaging |
Het |
| Htt |
T |
A |
5: 35,064,924 (GRCm39) |
W3046R |
probably damaging |
Het |
| Hydin |
A |
T |
8: 110,993,995 (GRCm39) |
N10Y |
unknown |
Het |
| Ighv8-8 |
T |
A |
12: 115,257,760 (GRCm39) |
T94S |
probably benign |
Het |
| Igkv4-58 |
A |
G |
6: 69,477,538 (GRCm39) |
S20P |
probably damaging |
Het |
| Il4i1 |
T |
C |
7: 44,486,919 (GRCm39) |
|
probably benign |
Het |
| Kif13a |
A |
T |
13: 46,918,099 (GRCm39) |
S403T |
probably benign |
Het |
| Klhl40 |
T |
C |
9: 121,612,446 (GRCm39) |
L616P |
probably damaging |
Het |
| Krt7 |
T |
C |
15: 101,325,491 (GRCm39) |
L440P |
possibly damaging |
Het |
| Lpin1 |
A |
G |
12: 16,594,678 (GRCm39) |
L755P |
probably damaging |
Het |
| Magee2 |
C |
A |
X: 103,899,134 (GRCm39) |
E506* |
probably null |
Het |
| Mast3 |
G |
A |
8: 71,234,207 (GRCm39) |
R143* |
probably null |
Het |
| Med12 |
T |
A |
X: 100,321,695 (GRCm39) |
H459Q |
probably benign |
Het |
| Mmp3 |
T |
C |
9: 7,450,149 (GRCm39) |
S294P |
probably benign |
Het |
| Muc6 |
T |
C |
7: 141,234,349 (GRCm39) |
Y714C |
probably damaging |
Het |
| Myh2 |
T |
C |
11: 67,074,349 (GRCm39) |
L662S |
probably damaging |
Het |
| Notch4 |
G |
T |
17: 34,791,542 (GRCm39) |
C567F |
probably damaging |
Het |
| Nprl3 |
A |
G |
11: 32,200,256 (GRCm39) |
I20T |
probably damaging |
Het |
| Or10ag2 |
A |
T |
2: 87,248,587 (GRCm39) |
D65V |
possibly damaging |
Het |
| Pcdhb19 |
A |
G |
18: 37,631,665 (GRCm39) |
T487A |
possibly damaging |
Het |
| Phlpp2 |
A |
G |
8: 110,667,467 (GRCm39) |
E1332G |
probably benign |
Het |
| Pick1 |
T |
C |
15: 79,125,481 (GRCm39) |
S113P |
probably damaging |
Het |
| Ptpru |
T |
C |
4: 131,507,178 (GRCm39) |
E1023G |
probably damaging |
Het |
| Rspry1 |
A |
C |
8: 95,376,962 (GRCm39) |
I382L |
probably benign |
Het |
| Sf3b3 |
A |
C |
8: 111,566,586 (GRCm39) |
V248G |
probably damaging |
Het |
| Smg5 |
T |
A |
3: 88,253,759 (GRCm39) |
Y126* |
probably null |
Het |
| Spin1 |
T |
C |
13: 51,281,973 (GRCm39) |
V22A |
probably benign |
Het |
| Stab1 |
C |
T |
14: 30,872,220 (GRCm39) |
R1189Q |
possibly damaging |
Het |
| Sytl5 |
A |
G |
X: 9,829,939 (GRCm39) |
D538G |
probably damaging |
Het |
| Taar7e |
T |
A |
10: 23,913,813 (GRCm39) |
M101K |
probably damaging |
Het |
| Taf4 |
A |
G |
2: 179,576,847 (GRCm39) |
V578A |
probably damaging |
Het |
| Tmem266 |
G |
T |
9: 55,344,517 (GRCm39) |
C383F |
probably benign |
Het |
| Trim34a |
T |
C |
7: 103,910,140 (GRCm39) |
|
probably null |
Het |
| Vmn2r104 |
T |
C |
17: 20,249,866 (GRCm39) |
T802A |
probably damaging |
Het |
| Vmn2r32 |
A |
C |
7: 7,467,029 (GRCm39) |
I833S |
probably damaging |
Het |
| Vmn2r85 |
T |
C |
10: 130,262,328 (GRCm39) |
D137G |
probably benign |
Het |
| Vps13c |
C |
T |
9: 67,853,308 (GRCm39) |
S2467L |
probably benign |
Het |
|
| Other mutations in Dpp4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00492:Dpp4
|
APN |
2 |
62,209,646 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02205:Dpp4
|
APN |
2 |
62,182,601 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02276:Dpp4
|
APN |
2 |
62,187,295 (GRCm39) |
splice site |
probably benign |
|
|
IGL02335:Dpp4
|
APN |
2 |
62,164,988 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02615:Dpp4
|
APN |
2 |
62,189,672 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02639:Dpp4
|
APN |
2 |
62,182,584 (GRCm39) |
missense |
probably benign |
|
|
IGL02972:Dpp4
|
APN |
2 |
62,182,569 (GRCm39) |
missense |
probably damaging |
1.00 |
|
caribou
|
UTSW |
2 |
62,178,245 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
PIT4449001:Dpp4
|
UTSW |
2 |
62,186,988 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0502:Dpp4
|
UTSW |
2 |
62,195,332 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0581:Dpp4
|
UTSW |
2 |
62,187,020 (GRCm39) |
missense |
probably benign |
|
|
R1004:Dpp4
|
UTSW |
2 |
62,162,984 (GRCm39) |
missense |
probably benign |
0.08 |
|
R1075:Dpp4
|
UTSW |
2 |
62,182,630 (GRCm39) |
missense |
probably benign |
0.39 |
|
R1476:Dpp4
|
UTSW |
2 |
62,178,245 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R1702:Dpp4
|
UTSW |
2 |
62,216,773 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1707:Dpp4
|
UTSW |
2 |
62,189,679 (GRCm39) |
splice site |
probably benign |
|
|
R1733:Dpp4
|
UTSW |
2 |
62,203,213 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1899:Dpp4
|
UTSW |
2 |
62,175,394 (GRCm39) |
splice site |
probably benign |
|
|
R2264:Dpp4
|
UTSW |
2 |
62,208,583 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R2496:Dpp4
|
UTSW |
2 |
62,217,477 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R3765:Dpp4
|
UTSW |
2 |
62,216,780 (GRCm39) |
missense |
probably benign |
0.17 |
|
R4278:Dpp4
|
UTSW |
2 |
62,209,667 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4413:Dpp4
|
UTSW |
2 |
62,217,484 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R4432:Dpp4
|
UTSW |
2 |
62,175,456 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4647:Dpp4
|
UTSW |
2 |
62,164,949 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4710:Dpp4
|
UTSW |
2 |
62,190,659 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4914:Dpp4
|
UTSW |
2 |
62,178,236 (GRCm39) |
missense |
probably benign |
0.20 |
|
R5173:Dpp4
|
UTSW |
2 |
62,217,474 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5283:Dpp4
|
UTSW |
2 |
62,190,680 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5698:Dpp4
|
UTSW |
2 |
62,164,655 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6621:Dpp4
|
UTSW |
2 |
62,182,484 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6681:Dpp4
|
UTSW |
2 |
62,178,893 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6739:Dpp4
|
UTSW |
2 |
62,217,439 (GRCm39) |
missense |
probably benign |
|
|
R6962:Dpp4
|
UTSW |
2 |
62,203,174 (GRCm39) |
missense |
probably benign |
0.11 |
|
R7249:Dpp4
|
UTSW |
2 |
62,215,547 (GRCm39) |
missense |
probably benign |
0.14 |
|
R7268:Dpp4
|
UTSW |
2 |
62,178,186 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7343:Dpp4
|
UTSW |
2 |
62,189,245 (GRCm39) |
nonsense |
probably null |
|
|
R7357:Dpp4
|
UTSW |
2 |
62,217,421 (GRCm39) |
missense |
probably benign |
|
|
R7366:Dpp4
|
UTSW |
2 |
62,184,943 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7413:Dpp4
|
UTSW |
2 |
62,187,333 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7431:Dpp4
|
UTSW |
2 |
62,182,582 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7642:Dpp4
|
UTSW |
2 |
62,190,627 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8004:Dpp4
|
UTSW |
2 |
62,189,172 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8197:Dpp4
|
UTSW |
2 |
62,203,171 (GRCm39) |
missense |
probably benign |
0.31 |
|
R8341:Dpp4
|
UTSW |
2 |
62,178,234 (GRCm39) |
missense |
probably benign |
0.10 |
|
R8706:Dpp4
|
UTSW |
2 |
62,208,647 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8977:Dpp4
|
UTSW |
2 |
62,204,747 (GRCm39) |
missense |
probably benign |
0.29 |
|
R8997:Dpp4
|
UTSW |
2 |
62,164,958 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9100:Dpp4
|
UTSW |
2 |
62,204,733 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R9616:Dpp4
|
UTSW |
2 |
62,217,429 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9777:Dpp4
|
UTSW |
2 |
62,195,340 (GRCm39) |
missense |
probably benign |
0.04 |
|
| Posted On |
2016-08-02 |
Incidental Mutation