Incidental Mutation 'PIT4449001:Dpp4'
ID |
555720 |
Institutional Source |
Beutler Lab
|
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 # |
PIT4449001 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
62160417-62242575 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 62186988 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Asparagine
at position 507
(K507N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000044050
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047812]
|
AlphaFold |
P28843 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000047812
AA Change: K507N
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000044050 Gene: ENSMUSG00000035000 AA Change: K507N
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 |
|
Coding Region Coverage |
- 1x: 93.3%
- 3x: 90.8%
- 10x: 84.7%
- 20x: 71.6%
|
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 |
Asf1b |
A |
G |
8: 84,694,611 (GRCm39) |
N125S |
probably benign |
Het |
BC048671 |
T |
A |
6: 90,282,145 (GRCm39) |
L101I |
probably damaging |
Het |
Camta1 |
A |
G |
4: 151,216,043 (GRCm39) |
L959P |
probably benign |
Het |
Cfap91 |
T |
C |
16: 38,148,720 (GRCm39) |
E236G |
probably damaging |
Het |
Cfh |
C |
A |
1: 140,040,303 (GRCm39) |
V598F |
probably damaging |
Het |
Cyp2j7 |
G |
T |
4: 96,103,575 (GRCm39) |
T320K |
probably damaging |
Het |
Ddr1 |
A |
G |
17: 35,998,141 (GRCm39) |
I468T |
possibly damaging |
Het |
Dhx15 |
A |
G |
5: 52,318,300 (GRCm39) |
V510A |
probably damaging |
Het |
Evpl |
G |
A |
11: 116,124,225 (GRCm39) |
T198M |
possibly damaging |
Het |
Gabbr1 |
G |
A |
17: 37,367,242 (GRCm39) |
V373I |
probably damaging |
Het |
Gak |
A |
T |
5: 108,728,791 (GRCm39) |
S1049T |
probably benign |
Het |
Gipr |
C |
T |
7: 18,894,543 (GRCm39) |
R253H |
probably benign |
Het |
Gm3685 |
T |
A |
14: 7,043,960 (GRCm38) |
M73L |
probably benign |
Het |
Gm5168 |
C |
T |
X: 25,994,840 (GRCm39) |
R129Q |
probably null |
Het |
Kcnh1 |
T |
A |
1: 192,100,992 (GRCm39) |
V555D |
probably damaging |
Het |
Kif26b |
T |
C |
1: 178,745,651 (GRCm39) |
S1916P |
probably damaging |
Het |
Lingo4 |
T |
C |
3: 94,309,239 (GRCm39) |
V59A |
probably benign |
Het |
Mroh8 |
T |
A |
2: 157,067,454 (GRCm39) |
Q635L |
probably damaging |
Het |
Msh6 |
T |
A |
17: 88,293,616 (GRCm39) |
D790E |
probably damaging |
Het |
Nrxn1 |
A |
T |
17: 90,905,007 (GRCm39) |
W809R |
probably damaging |
Het |
Or5ac19 |
C |
A |
16: 59,089,493 (GRCm39) |
C179F |
probably damaging |
Het |
Polr3d |
T |
C |
14: 70,676,903 (GRCm39) |
H397R |
probably benign |
Het |
Pwp2 |
G |
A |
10: 78,014,304 (GRCm39) |
T432I |
probably benign |
Het |
Rad21 |
G |
C |
15: 51,836,639 (GRCm39) |
F177L |
probably benign |
Het |
Rnf182 |
G |
A |
13: 43,822,153 (GRCm39) |
V235I |
probably benign |
Het |
Scn11a |
C |
T |
9: 119,599,014 (GRCm39) |
C1172Y |
probably damaging |
Het |
Sh2b3 |
A |
G |
5: 121,966,742 (GRCm39) |
L124P |
possibly damaging |
Het |
Six2 |
T |
C |
17: 85,992,906 (GRCm39) |
N199S |
probably benign |
Het |
Slc5a3 |
A |
G |
16: 91,874,702 (GRCm39) |
D253G |
probably benign |
Het |
Synm |
A |
G |
7: 67,385,025 (GRCm39) |
M879T |
probably benign |
Het |
Tasp1 |
A |
G |
2: 139,752,455 (GRCm39) |
I328T |
possibly damaging |
Het |
Tbrg4 |
T |
C |
11: 6,569,689 (GRCm39) |
Q309R |
probably damaging |
Het |
Tmtc2 |
A |
G |
10: 105,139,465 (GRCm39) |
L687P |
probably damaging |
Het |
Trgc3 |
A |
T |
13: 19,447,532 (GRCm39) |
R162* |
probably null |
Het |
Tufm |
T |
C |
7: 126,086,621 (GRCm39) |
M1T |
probably null |
Het |
Vmn2r116 |
A |
C |
17: 23,607,921 (GRCm39) |
L496F |
probably benign |
Het |
Vmn2r75 |
C |
T |
7: 85,814,791 (GRCm39) |
C234Y |
probably damaging |
Het |
Wars2 |
G |
T |
3: 99,112,595 (GRCm39) |
V162L |
possibly damaging |
Het |
Zc3h11a |
A |
T |
1: 133,552,349 (GRCm39) |
V586D |
probably benign |
Het |
Zdhhc5 |
A |
T |
2: 84,520,571 (GRCm39) |
N535K |
probably damaging |
Het |
Zfp52 |
T |
C |
17: 21,777,478 (GRCm39) |
Y38H |
probably damaging |
Het |
Zfp729b |
T |
C |
13: 67,739,542 (GRCm39) |
M908V |
probably benign |
Het |
Zfp772 |
T |
C |
7: 7,207,350 (GRCm39) |
I114V |
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 |
IGL03366:Dpp4
|
APN |
2 |
62,187,301 (GRCm39) |
splice site |
probably null |
|
caribou
|
UTSW |
2 |
62,178,245 (GRCm39) |
missense |
possibly damaging |
0.69 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TCCTGAGTGGAAACAGAAACTG -3'
(R):5'- TAGAGACTTACCCAGGAGTTAAGAC -3'
Sequencing Primer
(F):5'- TGAAGAGAAAGAAGCGTTTCTAACTC -3'
(R):5'- GGAGTTAAGACATAAGCCTTCCTC -3'
|
Posted On |
2019-06-07 |