Incidental Mutation 'R7642:Dpp4'
| ID |
590278 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dpp4
|
| Ensembl Gene |
ENSMUSG00000035000 |
| Gene Name |
dipeptidylpeptidase 4 |
| Synonyms |
Cd26, THAM, Dpp-4 |
| MMRRC Submission |
045645-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7642 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
62160417-62242575 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 62190627 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000044050
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047812]
[ENSMUST00000047812]
|
| AlphaFold |
P28843 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000047812
|
| SMART Domains |
Protein: ENSMUSP00000044050
Gene: ENSMUSG00000035000
| 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 |
probably null
Transcript: ENSMUST00000047812
|
| SMART Domains |
Protein: ENSMUSP00000044050
Gene: ENSMUSG00000035000
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
100% (48/48) |
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ap3b1 |
T |
C |
13: 94,613,540 (GRCm39) |
S680P |
probably benign |
Het |
| Carmil1 |
T |
C |
13: 24,251,189 (GRCm39) |
T844A |
probably benign |
Het |
| Cfap57 |
C |
T |
4: 118,472,128 (GRCm39) |
V84I |
probably benign |
Het |
| Clca4a |
A |
T |
3: 144,659,512 (GRCm39) |
D781E |
probably benign |
Het |
| Col10a1 |
A |
G |
10: 34,271,638 (GRCm39) |
M537V |
probably benign |
Het |
| Col5a2 |
A |
G |
1: 45,415,248 (GRCm39) |
M1497T |
probably benign |
Het |
| Csmd1 |
T |
A |
8: 16,135,192 (GRCm39) |
I1655F |
probably damaging |
Het |
| Cts3 |
A |
G |
13: 61,716,589 (GRCm39) |
S16P |
probably benign |
Het |
| Cyp2c67 |
T |
C |
19: 39,604,084 (GRCm39) |
Y424C |
probably damaging |
Het |
| Dip2c |
T |
C |
13: 9,672,741 (GRCm39) |
|
probably null |
Het |
| Dnah5 |
T |
C |
15: 28,248,125 (GRCm39) |
|
probably null |
Het |
| Fam135b |
T |
G |
15: 71,350,991 (GRCm39) |
N295T |
possibly damaging |
Het |
| Fign |
A |
G |
2: 63,810,916 (GRCm39) |
V118A |
probably benign |
Het |
| Gpr108 |
A |
T |
17: 57,543,228 (GRCm39) |
Y480* |
probably null |
Het |
| Ky |
T |
C |
9: 102,419,469 (GRCm39) |
V492A |
probably benign |
Het |
| Lmf1 |
G |
A |
17: 25,873,445 (GRCm39) |
V317M |
probably damaging |
Het |
| Lrrc30 |
C |
T |
17: 67,939,472 (GRCm39) |
G36E |
probably damaging |
Het |
| Map2 |
T |
C |
1: 66,452,466 (GRCm39) |
V452A |
probably benign |
Het |
| Mks1 |
C |
T |
11: 87,747,666 (GRCm39) |
T183M |
possibly damaging |
Het |
| Mpg |
G |
A |
11: 32,179,517 (GRCm39) |
|
probably null |
Het |
| Nat10 |
A |
G |
2: 103,557,131 (GRCm39) |
L841P |
possibly damaging |
Het |
| Nbeal1 |
A |
G |
1: 60,316,386 (GRCm39) |
E1863G |
probably benign |
Het |
| Neurl1b |
C |
G |
17: 26,657,720 (GRCm39) |
H219Q |
probably benign |
Het |
| Nr2e3 |
T |
A |
9: 59,854,671 (GRCm39) |
I292F |
possibly damaging |
Het |
| Nxn |
T |
C |
11: 76,163,285 (GRCm39) |
Y246C |
probably damaging |
Het |
| Or1o3 |
A |
T |
17: 37,573,964 (GRCm39) |
M197K |
probably benign |
Het |
| Or4f4b |
T |
C |
2: 111,313,823 (GRCm39) |
F44S |
probably damaging |
Het |
| Or5ac15 |
T |
G |
16: 58,940,011 (GRCm39) |
T141P |
possibly damaging |
Het |
| Or5h26 |
A |
G |
16: 58,988,080 (GRCm39) |
V142A |
probably benign |
Het |
| Or8k17 |
A |
T |
2: 86,066,660 (GRCm39) |
L166* |
probably null |
Het |
| Pcdha5 |
T |
A |
18: 37,093,544 (GRCm39) |
F18I |
probably benign |
Het |
| Pcdhb17 |
A |
G |
18: 37,618,779 (GRCm39) |
K190E |
probably damaging |
Het |
| Peg3 |
GTGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTC |
GTGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTC |
7: 6,712,167 (GRCm39) |
|
probably benign |
Het |
| Ppm1g |
G |
T |
5: 31,362,447 (GRCm39) |
Y284* |
probably null |
Het |
| Rp1 |
A |
G |
1: 4,218,054 (GRCm39) |
V1026A |
unknown |
Het |
| Scap |
C |
T |
9: 110,203,081 (GRCm39) |
R252C |
probably damaging |
Het |
| Scn9a |
C |
A |
2: 66,366,580 (GRCm39) |
K734N |
probably benign |
Het |
| Sema5a |
C |
T |
15: 32,682,471 (GRCm39) |
S955F |
probably damaging |
Het |
| Serpinb10 |
A |
G |
1: 107,456,831 (GRCm39) |
|
probably null |
Het |
| Sfi1 |
ACA |
ACATCTTCCCAAAGCCAGTCA |
11: 3,103,382 (GRCm39) |
|
probably benign |
Het |
| Sh2d5 |
A |
G |
4: 137,986,467 (GRCm39) |
T397A |
probably benign |
Het |
| Slc22a8 |
T |
C |
19: 8,587,409 (GRCm39) |
F490L |
probably benign |
Het |
| Tbc1d19 |
A |
T |
5: 54,014,260 (GRCm39) |
Y296F |
probably damaging |
Het |
| Tmppe |
T |
C |
9: 114,233,862 (GRCm39) |
S54P |
possibly damaging |
Het |
| Vmn1r123 |
A |
T |
7: 20,896,795 (GRCm39) |
N229I |
probably benign |
Het |
| Wdr36 |
T |
A |
18: 32,987,624 (GRCm39) |
|
probably null |
Het |
| Wdr47 |
T |
A |
3: 108,550,480 (GRCm39) |
M835K |
possibly damaging |
Het |
| Wscd2 |
A |
T |
5: 113,715,475 (GRCm39) |
K438N |
possibly damaging |
Het |
| Xrcc6 |
T |
A |
15: 81,900,678 (GRCm39) |
|
probably null |
Het |
| Xrn1 |
T |
A |
9: 95,903,906 (GRCm39) |
F1148I |
possibly damaging |
Het |
| Zmynd8 |
T |
C |
2: 165,654,346 (GRCm39) |
D722G |
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 |
|
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 |
|
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'- ATGGTGTCAAATCTGCTGAGC -3'
(R):5'- GTGGTCTATTGGATGAAGCAGAATG -3'
Sequencing Primer
(F):5'- CTGCTGAGCGTATGTGAAAATC -3'
(R):5'- GGACATTGATGCCCCCAAAAG -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation