Incidental Mutation 'IGL02639:Dpp4'
| ID |
301643 |
| 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 # |
IGL02639
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
62160417-62242575 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 62182584 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 566
(N566D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000044050
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047812]
|
| AlphaFold |
P28843 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000047812
AA Change: N566D
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000044050
Gene: ENSMUSG00000035000
AA Change: N566D
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930447A16Rik |
C |
T |
15: 37,430,048 (GRCm39) |
R71* |
probably null |
Het |
| Abca5 |
A |
T |
11: 110,178,899 (GRCm39) |
I1140N |
possibly damaging |
Het |
| Atp6v0a1 |
T |
A |
11: 100,946,344 (GRCm39) |
I773N |
possibly damaging |
Het |
| Atp9a |
A |
G |
2: 168,491,540 (GRCm39) |
M675T |
probably damaging |
Het |
| Baz1a |
A |
G |
12: 54,942,810 (GRCm39) |
|
probably benign |
Het |
| Cd5l |
T |
C |
3: 87,275,813 (GRCm39) |
V261A |
probably damaging |
Het |
| Copb1 |
A |
G |
7: 113,825,830 (GRCm39) |
|
probably benign |
Het |
| Cul5 |
T |
C |
9: 53,566,642 (GRCm39) |
D130G |
possibly damaging |
Het |
| Cyp2j5 |
T |
A |
4: 96,546,986 (GRCm39) |
Q176L |
probably benign |
Het |
| Ddo |
A |
G |
10: 40,523,733 (GRCm39) |
D241G |
probably damaging |
Het |
| Defa29 |
A |
G |
8: 21,816,137 (GRCm39) |
C77R |
possibly damaging |
Het |
| Eif1ad14 |
G |
T |
12: 87,886,269 (GRCm39) |
T120K |
probably benign |
Het |
| Emilin2 |
T |
C |
17: 71,581,544 (GRCm39) |
D394G |
probably benign |
Het |
| Fbf1 |
T |
C |
11: 116,043,426 (GRCm39) |
E461G |
probably benign |
Het |
| Fgfr2 |
A |
G |
7: 129,830,532 (GRCm39) |
|
probably benign |
Het |
| Fibcd1 |
G |
A |
2: 31,707,162 (GRCm39) |
T365M |
probably damaging |
Het |
| Fndc3a |
A |
C |
14: 72,811,797 (GRCm39) |
H344Q |
probably benign |
Het |
| Fnip1 |
T |
A |
11: 54,366,466 (GRCm39) |
C52* |
probably null |
Het |
| Fto |
T |
A |
8: 92,136,156 (GRCm39) |
N143K |
probably damaging |
Het |
| Hells |
G |
T |
19: 38,926,873 (GRCm39) |
L84F |
probably damaging |
Het |
| Hydin |
G |
A |
8: 111,265,081 (GRCm39) |
V2755I |
probably benign |
Het |
| Irgq |
C |
A |
7: 24,230,887 (GRCm39) |
A26E |
probably damaging |
Het |
| Katnip |
A |
G |
7: 125,471,964 (GRCm39) |
I1518V |
probably damaging |
Het |
| Klhl29 |
A |
T |
12: 5,187,453 (GRCm39) |
Y304N |
probably damaging |
Het |
| Muc6 |
T |
C |
7: 141,235,843 (GRCm39) |
|
probably benign |
Het |
| Myo15a |
T |
C |
11: 60,369,447 (GRCm39) |
F736L |
probably benign |
Het |
| Nynrin |
G |
T |
14: 56,108,112 (GRCm39) |
W1073L |
probably damaging |
Het |
| Or10h28 |
G |
A |
17: 33,488,369 (GRCm39) |
V224M |
possibly damaging |
Het |
| Or10w1 |
A |
T |
19: 13,631,960 (GRCm39) |
T51S |
possibly damaging |
Het |
| Or14c46 |
A |
T |
7: 85,918,928 (GRCm39) |
I23N |
probably damaging |
Het |
| Or14j10 |
A |
T |
17: 37,934,878 (GRCm39) |
I216N |
probably benign |
Het |
| Or1e29 |
A |
T |
11: 73,667,371 (GRCm39) |
C261S |
probably benign |
Het |
| Or51a10 |
C |
A |
7: 103,698,988 (GRCm39) |
C191F |
probably damaging |
Het |
| Or52e8b |
T |
A |
7: 104,673,429 (GRCm39) |
I253F |
probably damaging |
Het |
| Pdzd2 |
T |
A |
15: 12,592,329 (GRCm39) |
K105M |
probably damaging |
Het |
| Pip5k1c |
C |
A |
10: 81,153,155 (GRCm39) |
|
probably null |
Het |
| Pola2 |
A |
G |
19: 6,003,802 (GRCm39) |
V191A |
probably benign |
Het |
| Slc22a8 |
A |
T |
19: 8,571,323 (GRCm39) |
Y18F |
probably benign |
Het |
| Slc26a5 |
C |
T |
5: 22,024,765 (GRCm39) |
V440M |
probably damaging |
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 |
|
IGL02972:Dpp4
|
APN |
2 |
62,182,569 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03366:Dpp4
|
APN |
2 |
62,187,301 (GRCm39) |
splice site |
probably null |
|
|
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 |
2015-04-16 |
Incidental Mutation