Incidental Mutation 'R8004:Dpp4'
| ID |
616491 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dpp4
|
| Ensembl Gene |
ENSMUSG00000035000 |
| Gene Name |
dipeptidylpeptidase 4 |
| Synonyms |
Cd26, THAM, Dpp-4 |
| MMRRC Submission |
046044-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8004 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
62160417-62242575 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 62189172 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 453
(V453A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000044050
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047812]
|
| AlphaFold |
P28843 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000047812
AA Change: V453A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000044050
Gene: ENSMUSG00000035000
AA Change: V453A
| 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: 99.1%
|
| Validation Efficiency |
100% (61/61) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A830018L16Rik |
T |
A |
1: 12,021,286 (GRCm39) |
|
probably benign |
Het |
| Abcb11 |
T |
A |
2: 69,087,554 (GRCm39) |
K1070N |
possibly damaging |
Het |
| Ankrd24 |
T |
A |
10: 81,474,191 (GRCm39) |
N179K |
unknown |
Het |
| Atp6v0a4 |
A |
T |
6: 38,027,484 (GRCm39) |
F775L |
possibly damaging |
Het |
| Bbs2 |
A |
G |
8: 94,809,118 (GRCm39) |
V269A |
possibly damaging |
Het |
| Bpifc |
T |
G |
10: 85,815,148 (GRCm39) |
S273R |
probably benign |
Het |
| Cdan1 |
C |
T |
2: 120,561,924 (GRCm39) |
R20Q |
unknown |
Het |
| Cfap251 |
T |
C |
5: 123,392,513 (GRCm39) |
W216R |
unknown |
Het |
| Chrm2 |
T |
A |
6: 36,500,221 (GRCm39) |
I26N |
probably damaging |
Het |
| Cngb3 |
A |
G |
4: 19,505,273 (GRCm39) |
K669E |
possibly damaging |
Het |
| Cnot1 |
T |
C |
8: 96,479,380 (GRCm39) |
I876V |
probably benign |
Het |
| Col12a1 |
T |
A |
9: 79,591,683 (GRCm39) |
T926S |
probably damaging |
Het |
| Cyp2b23 |
G |
T |
7: 26,378,891 (GRCm39) |
T191K |
probably benign |
Het |
| Dipk1a |
T |
C |
5: 108,057,532 (GRCm39) |
D342G |
probably damaging |
Het |
| Eif2ak4 |
T |
C |
2: 118,247,775 (GRCm39) |
S271P |
possibly damaging |
Het |
| Fbxw20 |
G |
T |
9: 109,050,449 (GRCm39) |
P392H |
probably damaging |
Het |
| Fcho2 |
T |
A |
13: 98,926,013 (GRCm39) |
E118V |
possibly damaging |
Het |
| Gm2042 |
C |
G |
12: 87,926,921 (GRCm39) |
Q413E |
possibly damaging |
Het |
| Gm904 |
G |
A |
13: 50,799,343 (GRCm39) |
|
probably null |
Het |
| H2-D1 |
A |
G |
17: 35,485,672 (GRCm39) |
S352G |
probably benign |
Het |
| Igf2bp3 |
C |
A |
6: 49,067,954 (GRCm39) |
V451L |
probably benign |
Het |
| Igkv1-99 |
T |
C |
6: 68,519,112 (GRCm39) |
V23A |
|
Het |
| Igsf10 |
A |
G |
3: 59,237,130 (GRCm39) |
I1017T |
probably benign |
Het |
| Il18r1 |
G |
A |
1: 40,513,917 (GRCm39) |
C41Y |
probably damaging |
Het |
| Itgb4 |
A |
G |
11: 115,873,531 (GRCm39) |
D249G |
probably benign |
Het |
| Ldlrad1 |
G |
A |
4: 107,066,688 (GRCm39) |
A8T |
probably benign |
Het |
| Lrrn2 |
T |
A |
1: 132,865,489 (GRCm39) |
F185I |
probably damaging |
Het |
| Mllt6 |
G |
T |
11: 97,566,966 (GRCm39) |
E635D |
possibly damaging |
Het |
| Msh6 |
A |
G |
17: 88,294,215 (GRCm39) |
E990G |
probably damaging |
Het |
| Myo1h |
A |
T |
5: 114,458,769 (GRCm39) |
D184V |
|
Het |
| Nfatc2ip |
A |
G |
7: 125,989,577 (GRCm39) |
V269A |
possibly damaging |
Het |
| Nfkb1 |
C |
A |
3: 135,297,312 (GRCm39) |
|
probably benign |
Het |
| Nol12 |
A |
T |
15: 78,824,717 (GRCm39) |
K181N |
probably damaging |
Het |
| Npl |
T |
A |
1: 153,379,286 (GRCm39) |
T266S |
probably benign |
Het |
| Oog2 |
A |
T |
4: 143,920,821 (GRCm39) |
I85L |
probably benign |
Het |
| Or5k3 |
T |
A |
16: 58,969,351 (GRCm39) |
V46E |
probably damaging |
Het |
| Or7e171-ps1 |
A |
T |
9: 19,853,408 (GRCm39) |
D109E |
possibly damaging |
Het |
| Parm1 |
A |
C |
5: 91,742,132 (GRCm39) |
S167R |
probably benign |
Het |
| Pcsk4 |
T |
C |
10: 80,158,674 (GRCm39) |
D526G |
probably damaging |
Het |
| Plscr4 |
C |
T |
9: 92,372,843 (GRCm39) |
R322* |
probably null |
Het |
| Psmd9 |
T |
C |
5: 123,379,998 (GRCm39) |
|
probably null |
Het |
| Ralgapa1 |
A |
G |
12: 55,749,242 (GRCm39) |
V1220A |
probably damaging |
Het |
| Rbm25 |
A |
T |
12: 83,721,166 (GRCm39) |
E577D |
possibly damaging |
Het |
| Rbm44 |
T |
A |
1: 91,079,880 (GRCm39) |
|
probably benign |
Het |
| S100a6 |
T |
C |
3: 90,521,119 (GRCm39) |
F16L |
probably benign |
Het |
| Sar1a |
C |
A |
10: 61,520,945 (GRCm39) |
H53Q |
probably benign |
Het |
| Setd2 |
G |
A |
9: 110,421,613 (GRCm39) |
A282T |
|
Het |
| Slc35f5 |
A |
T |
1: 125,517,624 (GRCm39) |
H474L |
probably damaging |
Het |
| Slc4a3 |
T |
C |
1: 75,525,711 (GRCm39) |
|
probably null |
Het |
| Smc1b |
G |
A |
15: 84,981,815 (GRCm39) |
S735F |
probably damaging |
Het |
| Sp3 |
A |
T |
2: 72,800,552 (GRCm39) |
I531K |
possibly damaging |
Het |
| St6galnac5 |
A |
T |
3: 152,545,802 (GRCm39) |
M252K |
probably damaging |
Het |
| Tas2r120 |
T |
A |
6: 132,634,390 (GRCm39) |
H157Q |
possibly damaging |
Het |
| Tbc1d10b |
T |
A |
7: 126,798,183 (GRCm39) |
S653C |
probably damaging |
Het |
| Tex10 |
T |
C |
4: 48,452,047 (GRCm39) |
E693G |
possibly damaging |
Het |
| Thada |
A |
G |
17: 84,499,633 (GRCm39) |
S1855P |
probably benign |
Het |
| Tjp2 |
G |
A |
19: 24,091,484 (GRCm39) |
P559L |
probably damaging |
Het |
| Tmem184b |
A |
G |
15: 79,246,966 (GRCm39) |
S368P |
probably damaging |
Het |
| Tnc |
G |
A |
4: 63,902,894 (GRCm39) |
S1461L |
probably benign |
Het |
| Tnpo2 |
T |
C |
8: 85,771,328 (GRCm39) |
F177S |
probably benign |
Het |
| Vmn1r58 |
A |
T |
7: 5,413,506 (GRCm39) |
Y241* |
probably null |
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 |
|
R7642:Dpp4
|
UTSW |
2 |
62,190,627 (GRCm39) |
critical splice donor site |
probably null |
|
|
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'- AGGGCTCCTATGTTGCCAAAG -3'
(R):5'- GAAAATTCCTGGTGGGTTGC -3'
Sequencing Primer
(F):5'- CTCCTATGTTGCCAAAGGAAGAAG -3'
(R):5'- GCTATGGTGGTCTGACTCCTC -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation