Incidental Mutation 'R3765:Dpp4'
| ID |
274636 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dpp4
|
| Ensembl Gene |
ENSMUSG00000035000 |
| Gene Name |
dipeptidylpeptidase 4 |
| Synonyms |
Cd26, THAM, Dpp-4 |
| MMRRC Submission |
040742-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3765 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
62160417-62242575 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 62216780 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 92
(T92S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000044050
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047812]
|
| AlphaFold |
P28843 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000047812
AA Change: T92S
PolyPhen 2
Score 0.172 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000044050
Gene: ENSMUSG00000035000
AA Change: T92S
| 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: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap13 |
T |
C |
7: 75,258,585 (GRCm39) |
V403A |
probably benign |
Het |
| Arid2 |
T |
C |
15: 96,268,595 (GRCm39) |
S903P |
probably benign |
Het |
| Arl6ip6 |
T |
A |
2: 53,082,243 (GRCm39) |
W37R |
probably damaging |
Het |
| Bag3 |
C |
T |
7: 128,141,995 (GRCm39) |
T162I |
probably benign |
Het |
| C4b |
G |
A |
17: 34,948,814 (GRCm39) |
P1545S |
probably damaging |
Het |
| Ccdc185 |
T |
A |
1: 182,575,117 (GRCm39) |
H524L |
possibly damaging |
Het |
| Cfap43 |
T |
C |
19: 47,824,014 (GRCm39) |
N119S |
probably benign |
Het |
| Churc1 |
C |
A |
12: 76,820,057 (GRCm39) |
S22* |
probably null |
Het |
| Crbn |
T |
C |
6: 106,771,987 (GRCm39) |
K106E |
possibly damaging |
Het |
| Dag1 |
C |
T |
9: 108,085,398 (GRCm39) |
G581E |
probably damaging |
Het |
| Fam135a |
T |
C |
1: 24,094,958 (GRCm39) |
T137A |
possibly damaging |
Het |
| Fcsk |
A |
G |
8: 111,613,736 (GRCm39) |
I775T |
probably benign |
Het |
| Fermt1 |
T |
C |
2: 132,748,622 (GRCm39) |
D667G |
possibly damaging |
Het |
| Foxl2 |
T |
A |
9: 98,838,039 (GRCm39) |
I109N |
probably damaging |
Het |
| Frk |
A |
G |
10: 34,360,001 (GRCm39) |
M1V |
probably null |
Het |
| Gstm2 |
A |
G |
3: 107,891,346 (GRCm39) |
F124S |
probably damaging |
Het |
| Hmcn1 |
T |
C |
1: 150,620,776 (GRCm39) |
S1145G |
possibly damaging |
Het |
| Ints10 |
A |
G |
8: 69,277,771 (GRCm39) |
T682A |
possibly damaging |
Het |
| Jmy |
T |
C |
13: 93,601,219 (GRCm39) |
M396V |
possibly damaging |
Het |
| Ldb3 |
A |
T |
14: 34,300,639 (GRCm39) |
|
probably null |
Het |
| Mre11a |
A |
G |
9: 14,721,143 (GRCm39) |
N354S |
probably benign |
Het |
| Nbea |
A |
G |
3: 55,912,970 (GRCm39) |
V939A |
probably damaging |
Het |
| Nphs1 |
T |
C |
7: 30,170,635 (GRCm39) |
S928P |
probably damaging |
Het |
| Or5b109 |
G |
A |
19: 13,211,795 (GRCm39) |
M60I |
probably damaging |
Het |
| Or7a40 |
A |
G |
16: 16,491,179 (GRCm39) |
V222A |
probably benign |
Het |
| Or8g34 |
T |
A |
9: 39,372,920 (GRCm39) |
Y61* |
probably null |
Het |
| Or9e1 |
T |
C |
11: 58,732,120 (GRCm39) |
F60S |
probably damaging |
Het |
| Pla2g12b |
G |
A |
10: 59,257,323 (GRCm39) |
V169M |
probably damaging |
Het |
| Polr1c |
C |
T |
17: 46,558,850 (GRCm39) |
V14M |
probably damaging |
Het |
| Prg4 |
G |
A |
1: 150,327,122 (GRCm39) |
S898L |
probably damaging |
Het |
| Prmt6 |
C |
A |
3: 110,157,510 (GRCm39) |
E260* |
probably null |
Het |
| Ptx4 |
A |
G |
17: 25,341,842 (GRCm39) |
T106A |
probably benign |
Het |
| Rab3il1 |
A |
G |
19: 10,005,673 (GRCm39) |
T87A |
probably damaging |
Het |
| Sbf2 |
A |
G |
7: 109,974,788 (GRCm39) |
V783A |
probably damaging |
Het |
| Scn2a |
A |
C |
2: 65,513,054 (GRCm39) |
D209A |
possibly damaging |
Het |
| Setd2 |
T |
C |
9: 110,423,314 (GRCm39) |
L345P |
probably damaging |
Het |
| Slc18b1 |
A |
G |
10: 23,674,647 (GRCm39) |
D34G |
probably damaging |
Het |
| Slc9c1 |
A |
T |
16: 45,411,244 (GRCm39) |
M934L |
possibly damaging |
Het |
| Slx4 |
A |
G |
16: 3,798,850 (GRCm39) |
V1357A |
probably damaging |
Het |
| Spidr |
T |
C |
16: 15,786,504 (GRCm39) |
E413G |
probably benign |
Het |
| Taar1 |
A |
G |
10: 23,797,205 (GRCm39) |
Y301C |
probably damaging |
Het |
| Tada2b |
A |
T |
5: 36,633,761 (GRCm39) |
D197E |
probably benign |
Het |
| Taf1c |
G |
T |
8: 120,327,224 (GRCm39) |
Y418* |
probably null |
Het |
| Tanc2 |
A |
G |
11: 105,805,796 (GRCm39) |
D394G |
probably damaging |
Het |
| Tnpo3 |
T |
C |
6: 29,579,688 (GRCm39) |
D235G |
probably benign |
Het |
| Tns3 |
G |
A |
11: 8,401,133 (GRCm39) |
A1055V |
probably benign |
Het |
| Wdfy3 |
A |
G |
5: 102,009,266 (GRCm39) |
Y2767H |
probably damaging |
Het |
| Zfhx3 |
A |
G |
8: 109,519,394 (GRCm39) |
N172S |
probably damaging |
Het |
| Zfp839 |
T |
C |
12: 110,821,597 (GRCm39) |
V137A |
probably benign |
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 |
|
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'- GCCATGGAGTGAAGACAAATCC -3'
(R):5'- TTATGTGCCCTGTGTGAACG -3'
Sequencing Primer
(F):5'- TCCAGAGGAACACTTACATTCAAG -3'
(R):5'- GCAATCTGTCGTACTGATC -3'
|
| Posted On |
2015-04-02 |
Incidental Mutation