Incidental Mutation 'R5173:Dpp4'
| ID |
398865 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dpp4
|
| Ensembl Gene |
ENSMUSG00000035000 |
| Gene Name |
dipeptidylpeptidase 4 |
| Synonyms |
Cd26, THAM, Dpp-4 |
| MMRRC Submission |
042753-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5173 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
62160417-62242575 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 62217474 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 41
(Y41C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000044050
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047812]
|
| AlphaFold |
P28843 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000047812
AA Change: Y41C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000044050
Gene: ENSMUSG00000035000
AA Change: Y41C
| 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 |
0.5086 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.5%
|
| Validation Efficiency |
100% (50/50) |
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
AC |
A |
11: 9,632,032 (GRCm39) |
|
probably null |
Het |
| Abca6 |
A |
T |
11: 110,082,546 (GRCm39) |
F1142L |
probably benign |
Het |
| Ap1g1 |
T |
A |
8: 110,577,764 (GRCm39) |
|
probably null |
Het |
| Apob |
T |
C |
12: 8,058,238 (GRCm39) |
V2207A |
probably benign |
Het |
| Cenpp |
CAAACCTGAAAA |
CAAA |
13: 49,618,258 (GRCm39) |
|
probably null |
Het |
| Chd3 |
A |
G |
11: 69,260,069 (GRCm39) |
|
probably benign |
Het |
| Coch |
C |
A |
12: 51,643,290 (GRCm39) |
Y103* |
probably null |
Het |
| Cul3 |
A |
T |
1: 80,259,133 (GRCm39) |
D382E |
possibly damaging |
Het |
| Cul5 |
T |
C |
9: 53,554,034 (GRCm39) |
T291A |
probably benign |
Het |
| Dab1 |
T |
C |
4: 104,545,645 (GRCm39) |
|
probably null |
Het |
| Dmtf1 |
A |
G |
5: 9,190,356 (GRCm39) |
|
probably benign |
Het |
| Eif2ak4 |
A |
G |
2: 118,238,841 (GRCm39) |
I45M |
probably damaging |
Het |
| Epn3 |
T |
C |
11: 94,386,923 (GRCm39) |
K149R |
probably damaging |
Het |
| Flnc |
A |
G |
6: 29,455,537 (GRCm39) |
E2029G |
probably damaging |
Het |
| Gm5799 |
A |
G |
14: 43,782,116 (GRCm39) |
N96S |
probably damaging |
Het |
| Gprc5c |
G |
T |
11: 114,755,093 (GRCm39) |
V257L |
possibly damaging |
Het |
| Grik5 |
T |
C |
7: 24,762,319 (GRCm39) |
H224R |
possibly damaging |
Het |
| Lpar6 |
A |
T |
14: 73,476,537 (GRCm39) |
E166V |
probably benign |
Het |
| Mical1 |
T |
C |
10: 41,360,985 (GRCm39) |
L683P |
probably damaging |
Het |
| Mis18bp1 |
T |
C |
12: 65,196,149 (GRCm39) |
I538M |
possibly damaging |
Het |
| Mobp |
A |
G |
9: 119,997,311 (GRCm39) |
R77G |
possibly damaging |
Het |
| Muc21 |
G |
T |
17: 35,931,633 (GRCm39) |
|
probably benign |
Het |
| Mylk |
A |
G |
16: 34,797,383 (GRCm39) |
H1614R |
probably benign |
Het |
| Or2y16 |
T |
C |
11: 49,334,713 (GRCm39) |
F12L |
probably benign |
Het |
| Or4p18 |
G |
A |
2: 88,233,266 (GRCm39) |
T4I |
probably benign |
Het |
| Or7c19 |
T |
C |
8: 85,957,205 (GRCm39) |
L27P |
probably damaging |
Het |
| Osbpl1a |
C |
T |
18: 12,895,697 (GRCm39) |
V390I |
probably benign |
Het |
| Pcdha7 |
C |
A |
18: 37,107,705 (GRCm39) |
D243E |
probably benign |
Het |
| Pi4ka |
A |
T |
16: 17,168,770 (GRCm39) |
N653K |
possibly damaging |
Het |
| Plin5 |
T |
G |
17: 56,422,548 (GRCm39) |
|
probably null |
Het |
| Plod1 |
A |
G |
4: 148,000,758 (GRCm39) |
|
probably benign |
Het |
| Psd3 |
T |
C |
8: 68,149,641 (GRCm39) |
K372E |
probably damaging |
Het |
| Psmd11 |
C |
T |
11: 80,351,566 (GRCm39) |
T263I |
probably benign |
Het |
| Ptprt |
A |
T |
2: 161,769,676 (GRCm39) |
N396K |
probably benign |
Het |
| Rab39 |
T |
C |
9: 53,597,800 (GRCm39) |
E155G |
probably damaging |
Het |
| Rimbp2 |
T |
C |
5: 128,874,712 (GRCm39) |
D293G |
probably benign |
Het |
| Rnf220 |
T |
C |
4: 117,146,471 (GRCm39) |
|
probably benign |
Het |
| Rnmt |
C |
T |
18: 68,454,430 (GRCm39) |
|
probably benign |
Het |
| Slc10a1 |
T |
A |
12: 81,002,802 (GRCm39) |
I279F |
probably damaging |
Het |
| Sp140l1 |
G |
A |
1: 85,078,288 (GRCm39) |
R54* |
probably null |
Het |
| Taar6 |
A |
G |
10: 23,861,250 (GRCm39) |
Y99H |
probably damaging |
Het |
| Tas2r144 |
T |
A |
6: 42,193,048 (GRCm39) |
F263I |
probably benign |
Het |
| Tex15 |
T |
A |
8: 34,061,768 (GRCm39) |
N399K |
possibly damaging |
Het |
| Tlr9 |
T |
A |
9: 106,103,151 (GRCm39) |
V814D |
possibly damaging |
Het |
| Tmem53 |
T |
A |
4: 117,122,908 (GRCm39) |
|
probably benign |
Het |
| Ubap2l |
T |
C |
3: 89,928,337 (GRCm39) |
I511V |
possibly damaging |
Het |
| Vmn2r60 |
T |
C |
7: 41,844,935 (GRCm39) |
M766T |
probably damaging |
Het |
| Zfp462 |
T |
C |
4: 55,011,115 (GRCm39) |
V1027A |
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 |
|
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'- GCTCCCTTTTGTACTTCTAAGCAAG -3'
(R):5'- TTCAAGGAATTCTTACTCCACTGAC -3'
Sequencing Primer
(F):5'- AATACTGCACAGAGTTTCAAAGG -3'
(R):5'- GGAATTCTTACTCCACTGACTAAAC -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation