Incidental Mutation 'R4413:Dpp4'
ID |
327996 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dpp4
|
Ensembl Gene |
ENSMUSG00000035000 |
Gene Name |
dipeptidylpeptidase 4 |
Synonyms |
Cd26, THAM, Dpp-4 |
MMRRC Submission |
041136-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4413 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
62160417-62242575 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 62217484 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Cysteine
at position 38
(R38C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000044050
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047812]
|
AlphaFold |
P28843 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000047812
AA Change: R38C
PolyPhen 2
Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000044050 Gene: ENSMUSG00000035000 AA Change: R38C
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: ENSMUST00000136879
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149306
|
Meta Mutation Damage Score |
0.6945 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
Validation Efficiency |
93% (42/45) |
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: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adprhl1 |
T |
C |
8: 13,296,114 (GRCm39) |
K144E |
probably benign |
Het |
Bcdin3d |
A |
G |
15: 99,368,614 (GRCm39) |
L195P |
probably damaging |
Het |
Bltp1 |
A |
G |
3: 37,012,830 (GRCm39) |
|
probably null |
Het |
Col11a1 |
T |
A |
3: 113,901,965 (GRCm39) |
S553R |
unknown |
Het |
Cp |
A |
T |
3: 20,020,517 (GRCm39) |
D170V |
probably damaging |
Het |
Dnah17 |
C |
T |
11: 117,915,994 (GRCm39) |
A4303T |
probably benign |
Het |
Dusp6 |
C |
T |
10: 99,099,786 (GRCm39) |
T78M |
probably damaging |
Het |
Exoc1 |
A |
G |
5: 76,689,866 (GRCm39) |
|
probably benign |
Het |
Fbxl13 |
A |
T |
5: 21,787,051 (GRCm39) |
C295* |
probably null |
Het |
Gpsm1 |
G |
A |
2: 26,209,843 (GRCm39) |
|
probably benign |
Het |
Gstm4 |
T |
A |
3: 107,950,644 (GRCm39) |
D85V |
possibly damaging |
Het |
Hectd4 |
A |
G |
5: 121,488,544 (GRCm39) |
N3612D |
possibly damaging |
Het |
Izumo3 |
T |
C |
4: 92,035,136 (GRCm39) |
D27G |
probably damaging |
Het |
Kcna4 |
T |
A |
2: 107,125,718 (GRCm39) |
C151S |
probably benign |
Het |
Lrrc10 |
A |
G |
10: 116,881,719 (GRCm39) |
N131S |
probably damaging |
Het |
Madd |
A |
G |
2: 90,997,932 (GRCm39) |
S699P |
probably damaging |
Het |
Mcpt4 |
A |
T |
14: 56,297,993 (GRCm39) |
V186D |
probably damaging |
Het |
Mrgprx3-ps |
T |
C |
7: 46,959,746 (GRCm39) |
|
noncoding transcript |
Het |
Mrm1 |
G |
T |
11: 84,710,054 (GRCm39) |
R49S |
possibly damaging |
Het |
Nav2 |
T |
A |
7: 49,047,857 (GRCm39) |
N91K |
probably benign |
Het |
Noct |
C |
T |
3: 51,157,756 (GRCm39) |
R365W |
probably damaging |
Het |
Ntn1 |
C |
T |
11: 68,276,736 (GRCm39) |
G71S |
probably damaging |
Het |
Or10x1 |
T |
C |
1: 174,197,040 (GRCm39) |
S186P |
probably damaging |
Het |
Plekhg3 |
A |
C |
12: 76,624,538 (GRCm39) |
T1127P |
probably damaging |
Het |
Rhbdl2 |
A |
T |
4: 123,703,880 (GRCm39) |
M52L |
probably benign |
Het |
Saxo5 |
T |
A |
8: 3,533,529 (GRCm39) |
H278Q |
probably damaging |
Het |
Slc10a1 |
T |
C |
12: 81,004,906 (GRCm39) |
N212S |
probably benign |
Het |
Sohlh2 |
C |
A |
3: 55,104,423 (GRCm39) |
T264K |
probably damaging |
Het |
Srrm2 |
A |
G |
17: 24,029,442 (GRCm39) |
|
probably benign |
Het |
Syn3 |
C |
A |
10: 85,891,456 (GRCm39) |
|
probably benign |
Het |
Taf5 |
T |
A |
19: 47,059,453 (GRCm39) |
V199D |
probably damaging |
Het |
Tas2r136 |
C |
A |
6: 132,754,972 (GRCm39) |
V52L |
probably damaging |
Het |
Tnk2 |
C |
T |
16: 32,488,319 (GRCm39) |
R191C |
probably damaging |
Het |
Ttn |
A |
G |
2: 76,556,120 (GRCm39) |
I21968T |
probably damaging |
Het |
Ubxn6 |
A |
T |
17: 56,376,303 (GRCm39) |
V311E |
probably damaging |
Het |
Usp7 |
C |
A |
16: 8,526,778 (GRCm39) |
D187Y |
probably damaging |
Het |
Vmn1r115 |
C |
T |
7: 20,578,207 (GRCm39) |
R235K |
probably benign |
Het |
Vmn2r50 |
A |
C |
7: 9,784,235 (GRCm39) |
F80V |
probably damaging |
Het |
Vmn2r58 |
T |
A |
7: 41,511,360 (GRCm39) |
K481M |
possibly damaging |
Het |
Vmn2r86 |
A |
G |
10: 130,288,469 (GRCm39) |
I344T |
possibly damaging |
Het |
Vmn2r99 |
T |
A |
17: 19,599,522 (GRCm39) |
V402E |
probably damaging |
Het |
Zfp462 |
A |
G |
4: 55,012,672 (GRCm39) |
D1546G |
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 |
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'- AAGGAAAGATCGTATGTTCTCACTGAC -3'
(R):5'- GATATTCTCAGTGAAACTTGCTTCC -3'
Sequencing Primer
(F):5'- GATCGTATGTTCTCACTGACCAAAAC -3'
(R):5'- TCAAGGAATTCTTACTCCACTGAC -3'
|
Posted On |
2015-07-07 |