Incidental Mutation 'IGL02972:Dpp4'
ID |
365840 |
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 # |
IGL02972
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
62160417-62242575 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 62182569 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Glycine
at position 571
(S571G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000044050
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047812]
|
AlphaFold |
P28843 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000047812
AA Change: S571G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000044050 Gene: ENSMUSG00000035000 AA Change: S571G
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: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2410137M14Rik |
T |
A |
17: 37,289,412 (GRCm39) |
I105F |
possibly damaging |
Het |
Bmpr1b |
C |
T |
3: 141,576,519 (GRCm39) |
D105N |
probably benign |
Het |
Ces2e |
A |
T |
8: 105,653,693 (GRCm39) |
S44C |
probably damaging |
Het |
Chd7 |
T |
A |
4: 8,855,174 (GRCm39) |
N2134K |
probably benign |
Het |
Chst15 |
T |
C |
7: 131,870,902 (GRCm39) |
D211G |
probably damaging |
Het |
Gna11 |
T |
C |
10: 81,369,225 (GRCm39) |
I113V |
probably benign |
Het |
Grm3 |
T |
C |
5: 9,562,410 (GRCm39) |
Y480C |
probably damaging |
Het |
Mccc1 |
C |
T |
3: 36,039,238 (GRCm39) |
V252I |
possibly damaging |
Het |
Nol12 |
A |
G |
15: 78,824,799 (GRCm39) |
T209A |
probably damaging |
Het |
Or2y14 |
G |
A |
11: 49,404,918 (GRCm39) |
G151D |
probably damaging |
Het |
Or52a33 |
A |
G |
7: 103,289,101 (GRCm39) |
M82T |
probably damaging |
Het |
Or7e168 |
T |
C |
9: 19,720,238 (GRCm39) |
F208S |
probably damaging |
Het |
P3h1 |
C |
A |
4: 119,105,157 (GRCm39) |
Q712K |
possibly damaging |
Het |
Per2 |
T |
A |
1: 91,351,703 (GRCm39) |
E934D |
possibly damaging |
Het |
Pfkl |
T |
C |
10: 77,824,108 (GRCm39) |
D760G |
probably benign |
Het |
Piezo2 |
C |
A |
18: 63,197,856 (GRCm39) |
|
probably benign |
Het |
Pkd1l1 |
C |
T |
11: 8,813,908 (GRCm39) |
R1481Q |
probably damaging |
Het |
Plpp3 |
T |
C |
4: 105,065,989 (GRCm39) |
V189A |
possibly damaging |
Het |
Pnpla1 |
A |
G |
17: 29,105,921 (GRCm39) |
E592G |
probably null |
Het |
Prdm2 |
A |
T |
4: 142,858,736 (GRCm39) |
M1518K |
probably benign |
Het |
Rhbdl3 |
G |
A |
11: 80,222,742 (GRCm39) |
|
probably benign |
Het |
Rnf145 |
C |
T |
11: 44,454,865 (GRCm39) |
S582F |
probably benign |
Het |
Rsf1 |
A |
G |
7: 97,310,533 (GRCm39) |
D421G |
probably benign |
Het |
Serac1 |
A |
C |
17: 6,121,039 (GRCm39) |
L85* |
probably null |
Het |
Slc43a1 |
T |
G |
2: 84,690,462 (GRCm39) |
V460G |
probably damaging |
Het |
Slc7a6 |
G |
A |
8: 106,906,059 (GRCm39) |
C97Y |
probably damaging |
Het |
Slco5a1 |
A |
T |
1: 13,060,379 (GRCm39) |
L114* |
probably null |
Het |
Stxbp2 |
A |
T |
8: 3,691,971 (GRCm39) |
I538F |
probably benign |
Het |
Taok1 |
A |
G |
11: 77,450,584 (GRCm39) |
V396A |
probably benign |
Het |
Tmem232 |
T |
A |
17: 65,783,668 (GRCm39) |
H233L |
probably benign |
Het |
Tmprss11c |
C |
T |
5: 86,385,692 (GRCm39) |
S247N |
possibly damaging |
Het |
Tnc |
C |
T |
4: 63,894,715 (GRCm39) |
S1557N |
probably benign |
Het |
Txlng |
A |
G |
X: 161,590,551 (GRCm39) |
M94T |
probably damaging |
Het |
Ube2b |
A |
T |
11: 51,879,509 (GRCm39) |
I87K |
probably damaging |
Het |
Ubr5 |
A |
T |
15: 38,042,196 (GRCm39) |
S133R |
probably damaging |
Het |
Ugt1a5 |
C |
T |
1: 88,094,144 (GRCm39) |
T124I |
probably benign |
Het |
Vamp1 |
G |
T |
6: 125,196,610 (GRCm39) |
R117L |
probably benign |
Het |
Vmn1r87 |
G |
T |
7: 12,866,256 (GRCm39) |
Y10* |
probably null |
Het |
Zan |
G |
A |
5: 137,461,948 (GRCm39) |
T1077I |
unknown |
Het |
Zc2hc1b |
C |
A |
10: 13,047,025 (GRCm39) |
V29F |
probably damaging |
Het |
Zfp597 |
T |
C |
16: 3,684,387 (GRCm39) |
D123G |
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 |
|
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 |
2015-12-18 |