Incidental Mutation 'R6621:Dpp4'
| ID |
524417 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dpp4
|
| Ensembl Gene |
ENSMUSG00000035000 |
| Gene Name |
dipeptidylpeptidase 4 |
| Synonyms |
Cd26, THAM, Dpp-4 |
| MMRRC Submission |
044744-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6621 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
62160417-62242575 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 62182484 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 599
(D599V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000044050
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047812]
|
| AlphaFold |
P28843 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000047812
AA Change: D599V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000044050
Gene: ENSMUSG00000035000
AA Change: D599V
| 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 |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 92.6%
|
| Validation Efficiency |
100% (36/36) |
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6430548M08Rik |
C |
T |
8: 120,872,162 (GRCm39) |
T30M |
possibly damaging |
Het |
| Abcb8 |
T |
C |
5: 24,599,508 (GRCm39) |
F8L |
probably benign |
Het |
| Akap13 |
G |
T |
7: 75,219,729 (GRCm39) |
C44F |
probably damaging |
Het |
| Ankrd34a |
A |
G |
3: 96,505,531 (GRCm39) |
N245S |
possibly damaging |
Het |
| Ccdc186 |
T |
C |
19: 56,801,919 (GRCm39) |
D66G |
probably benign |
Het |
| Chat |
C |
T |
14: 32,140,970 (GRCm39) |
A476T |
probably damaging |
Het |
| Cpsf1 |
T |
C |
15: 76,487,719 (GRCm39) |
D100G |
probably damaging |
Het |
| Cpt1a |
T |
A |
19: 3,428,472 (GRCm39) |
F615L |
probably damaging |
Het |
| Dpysl5 |
T |
C |
5: 30,941,813 (GRCm39) |
|
probably null |
Het |
| Fam234a |
A |
G |
17: 26,432,855 (GRCm39) |
L460P |
probably damaging |
Het |
| Fsip2 |
T |
G |
2: 82,820,158 (GRCm39) |
V5297G |
possibly damaging |
Het |
| Gm28363 |
A |
G |
1: 117,655,087 (GRCm39) |
D102G |
probably benign |
Het |
| Greb1 |
A |
G |
12: 16,742,718 (GRCm39) |
V1377A |
probably damaging |
Het |
| Hat1 |
T |
A |
2: 71,252,059 (GRCm39) |
F264I |
probably benign |
Het |
| Kif3a |
A |
G |
11: 53,469,957 (GRCm39) |
I152M |
probably damaging |
Het |
| Lemd2 |
T |
C |
17: 27,414,366 (GRCm39) |
S323G |
probably benign |
Het |
| Manea |
T |
C |
4: 26,340,363 (GRCm39) |
|
probably null |
Het |
| Mcm9 |
T |
C |
10: 53,439,409 (GRCm39) |
E588G |
probably damaging |
Het |
| Mllt3 |
T |
G |
4: 87,759,034 (GRCm39) |
K338T |
possibly damaging |
Het |
| Nrxn1 |
T |
C |
17: 90,469,610 (GRCm39) |
T1324A |
probably damaging |
Het |
| Nudt8 |
T |
A |
19: 4,051,320 (GRCm39) |
Y64N |
probably benign |
Het |
| Or13a27 |
A |
G |
7: 139,925,368 (GRCm39) |
F178S |
probably damaging |
Het |
| Or2y15 |
A |
G |
11: 49,350,598 (GRCm39) |
I31V |
probably benign |
Het |
| Or51ah3 |
A |
G |
7: 103,210,085 (GRCm39) |
T134A |
possibly damaging |
Het |
| Or5ac15 |
A |
T |
16: 58,940,287 (GRCm39) |
W49R |
probably benign |
Het |
| Or5w14 |
A |
G |
2: 87,541,899 (GRCm39) |
V117A |
probably benign |
Het |
| Or8c9 |
A |
T |
9: 38,241,758 (GRCm39) |
I289F |
probably damaging |
Het |
| Osm |
T |
A |
11: 4,189,541 (GRCm39) |
D108E |
probably benign |
Het |
| Pde8a |
A |
G |
7: 80,942,878 (GRCm39) |
|
probably null |
Het |
| Phtf2 |
T |
C |
5: 21,017,954 (GRCm39) |
|
probably benign |
Het |
| Rnf214 |
T |
C |
9: 45,807,468 (GRCm39) |
D245G |
probably damaging |
Het |
| Slc10a7 |
T |
C |
8: 79,242,263 (GRCm39) |
I50T |
probably damaging |
Het |
| Slc5a6 |
A |
G |
5: 31,198,122 (GRCm39) |
V251A |
probably damaging |
Het |
| Sun3 |
T |
A |
11: 8,966,242 (GRCm39) |
T320S |
probably damaging |
Het |
| Zfp174 |
A |
G |
16: 3,665,819 (GRCm39) |
E28G |
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 |
|
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 |
|
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 |
|
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'- GGGTAAAGGATTATAAATTCACCCTCC -3'
(R):5'- TTTCACAGATATGCAGGTCCCTG -3'
Sequencing Primer
(F):5'- GGATTATAAATTCACCCTCCAAAACC -3'
(R):5'- ACAGATATGCAGGTCCCTGTAGTC -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation