Incidental Mutation 'R5283:Dpp4'
| ID |
402854 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dpp4
|
| Ensembl Gene |
ENSMUSG00000035000 |
| Gene Name |
dipeptidylpeptidase 4 |
| Synonyms |
Cd26, THAM, Dpp-4 |
| MMRRC Submission |
042868-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5283 (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 62190680 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 392
(T392I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000044050
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047812]
|
| AlphaFold |
P28843 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000047812
AA Change: T392I
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000044050
Gene: ENSMUSG00000035000
AA Change: T392I
| 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: ENSMUST00000129738
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136879
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150979
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.9%
- 20x: 96.7%
|
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aamp |
C |
T |
1: 74,323,165 (GRCm39) |
E53K |
possibly damaging |
Het |
| Amotl1 |
T |
C |
9: 14,469,780 (GRCm39) |
E651G |
probably damaging |
Het |
| Ankrd11 |
A |
C |
8: 123,610,921 (GRCm39) |
V2655G |
probably damaging |
Het |
| Apbb1ip |
G |
A |
2: 22,757,683 (GRCm39) |
V434M |
probably benign |
Het |
| Atp5pd |
T |
C |
11: 115,306,611 (GRCm39) |
Y150C |
probably damaging |
Het |
| Ccdc13 |
T |
A |
9: 121,637,254 (GRCm39) |
D75V |
probably damaging |
Het |
| Col4a4 |
C |
T |
1: 82,471,312 (GRCm39) |
G681E |
unknown |
Het |
| Crh |
T |
C |
3: 19,748,171 (GRCm39) |
H157R |
probably damaging |
Het |
| Cstdc6 |
T |
C |
16: 36,142,205 (GRCm39) |
D57G |
probably damaging |
Het |
| Ehd3 |
G |
T |
17: 74,127,498 (GRCm39) |
A144S |
probably benign |
Het |
| Fnip2 |
A |
T |
3: 79,373,015 (GRCm39) |
I1021N |
probably damaging |
Het |
| Fus |
T |
A |
7: 127,584,719 (GRCm39) |
|
probably benign |
Het |
| Glo1 |
T |
C |
17: 30,819,047 (GRCm39) |
T92A |
probably benign |
Het |
| Gm11595 |
G |
A |
11: 99,663,381 (GRCm39) |
R100C |
unknown |
Het |
| Gm15130 |
A |
C |
2: 110,965,754 (GRCm39) |
M165R |
unknown |
Het |
| Gon4l |
T |
C |
3: 88,794,897 (GRCm39) |
L700P |
probably damaging |
Het |
| Grm1 |
C |
A |
10: 10,608,936 (GRCm39) |
D566Y |
possibly damaging |
Het |
| Guca1b |
T |
C |
17: 47,702,195 (GRCm39) |
|
probably benign |
Het |
| Has3 |
A |
G |
8: 107,600,747 (GRCm39) |
M70V |
probably damaging |
Het |
| Hydin |
G |
T |
8: 111,178,612 (GRCm39) |
C1069F |
possibly damaging |
Het |
| Ints1 |
A |
C |
5: 139,750,137 (GRCm39) |
L920R |
probably damaging |
Het |
| Kdm2a |
T |
C |
19: 4,381,297 (GRCm39) |
I54V |
probably benign |
Het |
| Kpna2 |
G |
A |
11: 106,881,658 (GRCm39) |
T324I |
probably damaging |
Het |
| Lrr1 |
T |
C |
12: 69,221,428 (GRCm39) |
L190S |
probably damaging |
Het |
| Lrrc49 |
A |
T |
9: 60,594,461 (GRCm39) |
H16Q |
probably benign |
Het |
| Mab21l4 |
C |
T |
1: 93,087,575 (GRCm39) |
D93N |
probably benign |
Het |
| Mapkap1 |
A |
G |
2: 34,334,360 (GRCm39) |
E147G |
probably damaging |
Het |
| Mrpl2 |
C |
T |
17: 46,959,992 (GRCm39) |
R219W |
possibly damaging |
Het |
| Muc21 |
A |
G |
17: 35,932,224 (GRCm39) |
|
probably benign |
Het |
| Ndc80 |
A |
G |
17: 71,828,130 (GRCm39) |
S66P |
probably benign |
Het |
| Notch1 |
A |
G |
2: 26,358,638 (GRCm39) |
Y1398H |
probably damaging |
Het |
| Olfml2b |
C |
T |
1: 170,508,758 (GRCm39) |
R539* |
probably null |
Het |
| Or6b9 |
T |
A |
7: 106,555,955 (GRCm39) |
T63S |
probably benign |
Het |
| Pde7a |
T |
C |
3: 19,314,420 (GRCm39) |
T59A |
probably damaging |
Het |
| Plekhg1 |
G |
A |
10: 3,906,654 (GRCm39) |
V524I |
probably benign |
Het |
| Plin4 |
T |
A |
17: 56,413,777 (GRCm39) |
M283L |
probably benign |
Het |
| Prp2 |
C |
T |
6: 132,577,606 (GRCm39) |
P298S |
unknown |
Het |
| Rap1gap2 |
G |
A |
11: 74,286,651 (GRCm39) |
R550C |
probably damaging |
Het |
| Reln |
G |
A |
5: 22,216,161 (GRCm39) |
T1008I |
probably damaging |
Het |
| Rffl |
T |
C |
11: 82,703,615 (GRCm39) |
K103E |
probably damaging |
Het |
| Rmnd5b |
A |
T |
11: 51,517,887 (GRCm39) |
F156I |
probably damaging |
Het |
| Rtn4ip1 |
T |
C |
10: 43,778,461 (GRCm39) |
I68T |
probably damaging |
Het |
| Samhd1 |
T |
C |
2: 156,951,412 (GRCm39) |
I442V |
possibly damaging |
Het |
| Slc12a4 |
A |
T |
8: 106,677,326 (GRCm39) |
|
probably null |
Het |
| Slc35b1 |
G |
T |
11: 95,275,814 (GRCm39) |
|
probably benign |
Het |
| Ssh1 |
A |
G |
5: 114,088,606 (GRCm39) |
V354A |
probably damaging |
Het |
| Stk33 |
T |
C |
7: 108,935,334 (GRCm39) |
K153E |
possibly damaging |
Het |
| Stk4 |
C |
T |
2: 163,952,199 (GRCm39) |
R19* |
probably null |
Het |
| Tas2r136 |
A |
T |
6: 132,754,374 (GRCm39) |
I251N |
probably damaging |
Het |
| Tbr1 |
A |
T |
2: 61,635,244 (GRCm39) |
T65S |
probably benign |
Het |
| Tkt |
C |
T |
14: 30,282,575 (GRCm39) |
S124F |
probably damaging |
Het |
| Tll1 |
T |
C |
8: 64,555,000 (GRCm39) |
I228V |
possibly damaging |
Het |
| Tmem236 |
A |
G |
2: 14,179,644 (GRCm39) |
I82V |
probably benign |
Het |
| Vmn2r110 |
T |
C |
17: 20,800,899 (GRCm39) |
Q511R |
probably benign |
Het |
| Vmn2r98 |
T |
C |
17: 19,300,981 (GRCm39) |
M661T |
probably benign |
Het |
| Vps13a |
T |
A |
19: 16,655,334 (GRCm39) |
K1898I |
probably damaging |
Het |
| Zc3h12a |
T |
C |
4: 125,020,558 (GRCm39) |
E95G |
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 |
|
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 |
|
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'- GGTGTCAAATCTGCTGAGCG -3'
(R):5'- CACTAATTCAGATTCTTCAGTGGTC -3'
Sequencing Primer
(F):5'- CTGCTGAGCGTATGTGAAAATC -3'
(R):5'- CAGTGGTCTATTGGATGAAGCAG -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation