Incidental Mutation 'R2496:Dpp4'
ID |
251150 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dpp4
|
Ensembl Gene |
ENSMUSG00000035000 |
Gene Name |
dipeptidylpeptidase 4 |
Synonyms |
Cd26, THAM, Dpp-4 |
MMRRC Submission |
040410-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2496 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
62160417-62242575 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 62217477 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Methionine
at position 40
(T40M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000044050
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047812]
|
AlphaFold |
P28843 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000047812
AA Change: T40M
PolyPhen 2
Score 0.905 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000044050 Gene: ENSMUSG00000035000 AA Change: T40M
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
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.6%
|
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: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acan |
T |
C |
7: 78,761,065 (GRCm39) |
W1926R |
probably damaging |
Het |
Arhgef25 |
T |
C |
10: 127,023,063 (GRCm39) |
T106A |
probably benign |
Het |
Baz1b |
G |
A |
5: 135,239,629 (GRCm39) |
R243Q |
probably damaging |
Het |
Cdhr3 |
A |
G |
12: 33,099,068 (GRCm39) |
Y508H |
probably benign |
Het |
Cyp2d9 |
T |
A |
15: 82,336,680 (GRCm39) |
W10R |
probably damaging |
Het |
Dmxl1 |
A |
G |
18: 50,013,858 (GRCm39) |
T1549A |
possibly damaging |
Het |
Dnah8 |
A |
T |
17: 31,070,705 (GRCm39) |
R4464W |
probably damaging |
Het |
Dync1h1 |
A |
G |
12: 110,607,654 (GRCm39) |
H2723R |
possibly damaging |
Het |
E2f3 |
C |
T |
13: 30,095,289 (GRCm39) |
S333N |
probably damaging |
Het |
Fam120a |
G |
T |
13: 49,121,069 (GRCm39) |
A79E |
probably damaging |
Het |
Fat3 |
A |
G |
9: 15,877,399 (GRCm39) |
S3405P |
probably benign |
Het |
Gaa |
T |
C |
11: 119,174,531 (GRCm39) |
S793P |
possibly damaging |
Het |
Galc |
A |
C |
12: 98,193,540 (GRCm39) |
F350V |
probably damaging |
Het |
Garre1 |
A |
G |
7: 33,955,916 (GRCm39) |
V391A |
possibly damaging |
Het |
Gm136 |
A |
G |
4: 34,746,541 (GRCm39) |
C157R |
probably damaging |
Het |
Gm3327 |
A |
C |
14: 44,363,720 (GRCm39) |
N108T |
unknown |
Het |
H2-M10.2 |
A |
G |
17: 36,596,771 (GRCm39) |
Y102H |
possibly damaging |
Het |
Hmcn1 |
A |
T |
1: 150,490,972 (GRCm39) |
D4192E |
probably benign |
Het |
Hpse2 |
A |
C |
19: 43,001,482 (GRCm39) |
|
probably null |
Het |
Idh3a |
T |
C |
9: 54,510,633 (GRCm39) |
V362A |
probably benign |
Het |
Kdm7a |
A |
T |
6: 39,147,697 (GRCm39) |
|
probably null |
Het |
Krt6b |
A |
G |
15: 101,588,216 (GRCm39) |
V148A |
probably damaging |
Het |
Lrba |
G |
A |
3: 86,439,394 (GRCm39) |
R1977H |
probably damaging |
Het |
Magi2 |
A |
T |
5: 19,883,750 (GRCm39) |
Y134F |
probably benign |
Het |
Mamdc4 |
T |
C |
2: 25,455,914 (GRCm39) |
Y801C |
probably damaging |
Het |
Maml1 |
T |
C |
11: 50,149,371 (GRCm39) |
T790A |
probably benign |
Het |
Map3k19 |
A |
G |
1: 127,750,823 (GRCm39) |
Y843H |
probably damaging |
Het |
Mdfic |
A |
T |
6: 15,741,041 (GRCm39) |
H45L |
possibly damaging |
Het |
Mlx |
C |
T |
11: 100,979,080 (GRCm39) |
T87I |
probably benign |
Het |
Mms22l |
T |
A |
4: 24,521,269 (GRCm39) |
I382K |
probably benign |
Het |
Mtf1 |
A |
G |
4: 124,732,697 (GRCm39) |
N585S |
probably benign |
Het |
Mylk2 |
C |
T |
2: 152,755,588 (GRCm39) |
P251S |
probably damaging |
Het |
Myorg |
A |
G |
4: 41,499,165 (GRCm39) |
V155A |
probably benign |
Het |
Nox4 |
A |
T |
7: 86,955,958 (GRCm39) |
T157S |
probably benign |
Het |
Oas2 |
A |
T |
5: 120,886,682 (GRCm39) |
H161Q |
probably benign |
Het |
Obscn |
A |
T |
11: 58,994,268 (GRCm39) |
V1563E |
probably damaging |
Het |
Or2n1b |
T |
C |
17: 38,460,322 (GRCm39) |
V281A |
possibly damaging |
Het |
Or55b3 |
T |
C |
7: 102,126,354 (GRCm39) |
K241R |
probably damaging |
Het |
Or6c203 |
A |
C |
10: 129,009,966 (GRCm39) |
F308C |
probably benign |
Het |
Pcdhb11 |
T |
A |
18: 37,555,375 (GRCm39) |
I235N |
probably benign |
Het |
Pcsk5 |
A |
T |
19: 17,443,522 (GRCm39) |
C1212* |
probably null |
Het |
Ptges |
C |
T |
2: 30,782,722 (GRCm39) |
G110D |
possibly damaging |
Het |
Rsph4a |
A |
T |
10: 33,784,094 (GRCm39) |
I239L |
possibly damaging |
Het |
Setx |
A |
G |
2: 29,034,813 (GRCm39) |
I433V |
probably benign |
Het |
Smyd4 |
T |
C |
11: 75,281,927 (GRCm39) |
S467P |
probably benign |
Het |
Snai2 |
A |
T |
16: 14,523,866 (GRCm39) |
H10L |
possibly damaging |
Het |
Snw1 |
T |
C |
12: 87,497,589 (GRCm39) |
I467V |
probably benign |
Het |
Stab1 |
A |
T |
14: 30,883,420 (GRCm39) |
C301S |
probably damaging |
Het |
Tax1bp1 |
T |
A |
6: 52,735,342 (GRCm39) |
|
probably null |
Het |
Tmem70 |
C |
A |
1: 16,735,575 (GRCm39) |
P15Q |
probably benign |
Het |
Tmem87a |
T |
C |
2: 120,224,859 (GRCm39) |
E134G |
probably damaging |
Het |
Ubr4 |
C |
T |
4: 139,200,516 (GRCm39) |
|
probably benign |
Het |
Ugt2b37 |
C |
T |
5: 87,402,569 (GRCm39) |
V21M |
probably damaging |
Het |
Ugt2b38 |
T |
A |
5: 87,569,551 (GRCm39) |
I259F |
probably damaging |
Het |
Zfp804a |
T |
A |
2: 82,066,188 (GRCm39) |
L53Q |
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 |
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'- CAAAGGAAAGATCGTATGTTCTCAC -3'
(R):5'- GATATTCTCAGTGAAACTTGCTTCC -3'
Sequencing Primer
(F):5'- GGAAAGATCGTATGTTCTCACTGACC -3'
(R):5'- TCAAGGAATTCTTACTCCACTGAC -3'
|
Posted On |
2014-12-04 |