Incidental Mutation 'R8341:Dpp4'
| ID |
644871 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dpp4
|
| Ensembl Gene |
ENSMUSG00000035000 |
| Gene Name |
dipeptidylpeptidase 4 |
| Synonyms |
Cd26, THAM, Dpp-4 |
| MMRRC Submission |
067865-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8341 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
62160417-62242575 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 62178234 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 633
(V633I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000044050
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047812]
|
| AlphaFold |
P28843 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000047812
AA Change: V633I
PolyPhen 2
Score 0.099 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000044050
Gene: ENSMUSG00000035000
AA Change: V633I
| 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: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
98% (57/58) |
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8b |
T |
A |
11: 109,845,876 (GRCm39) |
I915F |
probably damaging |
Het |
| Adam11 |
C |
A |
11: 102,667,362 (GRCm39) |
H641N |
probably damaging |
Het |
| Amfr |
A |
G |
8: 94,725,806 (GRCm39) |
S192P |
probably damaging |
Het |
| Ano9 |
T |
A |
7: 140,682,247 (GRCm39) |
N676I |
possibly damaging |
Het |
| Arfgef1 |
C |
T |
1: 10,224,553 (GRCm39) |
V1428I |
probably benign |
Het |
| B3gnt9 |
C |
T |
8: 105,980,497 (GRCm39) |
R297H |
probably benign |
Het |
| Bace2 |
C |
T |
16: 97,158,108 (GRCm39) |
A36V |
possibly damaging |
Het |
| C1s1 |
C |
T |
6: 124,508,115 (GRCm39) |
A625T |
probably damaging |
Het |
| Camkmt |
T |
C |
17: 85,747,008 (GRCm39) |
L251P |
probably damaging |
Het |
| Ceacam15 |
C |
A |
7: 16,405,928 (GRCm39) |
V208F |
probably benign |
Het |
| Clp1 |
T |
C |
2: 84,554,117 (GRCm39) |
K351E |
probably damaging |
Het |
| Csmd3 |
T |
C |
15: 47,561,547 (GRCm39) |
Y1343C |
|
Het |
| Cubn |
C |
A |
2: 13,433,535 (GRCm39) |
G1125V |
probably damaging |
Het |
| Eif2ak1 |
A |
T |
5: 143,821,755 (GRCm39) |
D357V |
probably benign |
Het |
| Fez1 |
T |
C |
9: 36,787,605 (GRCm39) |
M370T |
possibly damaging |
Het |
| Frk |
G |
A |
10: 34,462,279 (GRCm39) |
E257K |
probably damaging |
Het |
| Gm7579 |
T |
A |
7: 141,765,856 (GRCm39) |
C87* |
probably null |
Het |
| Henmt1 |
T |
C |
3: 108,865,908 (GRCm39) |
V211A |
probably damaging |
Het |
| Hspg2 |
C |
G |
4: 137,246,290 (GRCm39) |
P1023A |
possibly damaging |
Het |
| Ints9 |
T |
A |
14: 65,273,863 (GRCm39) |
V556E |
probably benign |
Het |
| Itprid2 |
A |
T |
2: 79,488,062 (GRCm39) |
K715I |
probably damaging |
Het |
| Klhl41 |
T |
C |
2: 69,500,868 (GRCm39) |
S110P |
probably benign |
Het |
| Klrk1 |
T |
C |
6: 129,599,663 (GRCm39) |
|
probably benign |
Het |
| Kmt2e |
A |
T |
5: 23,704,451 (GRCm39) |
S1215C |
probably damaging |
Het |
| Lyn |
T |
C |
4: 3,743,304 (GRCm39) |
|
probably null |
Het |
| Map2k5 |
T |
A |
9: 63,246,380 (GRCm39) |
N116Y |
probably damaging |
Het |
| Map3k13 |
G |
T |
16: 21,740,334 (GRCm39) |
E554* |
probably null |
Het |
| Map6 |
A |
G |
7: 98,917,647 (GRCm39) |
E140G |
possibly damaging |
Het |
| Mpv17 |
A |
C |
5: 31,311,447 (GRCm39) |
|
probably null |
Het |
| Myo1c |
C |
T |
11: 75,562,253 (GRCm39) |
P883S |
probably benign |
Het |
| Myo7b |
T |
C |
18: 32,116,979 (GRCm39) |
M914V |
probably benign |
Het |
| Olfm2 |
C |
T |
9: 20,583,918 (GRCm39) |
|
probably null |
Het |
| Or2b4 |
G |
A |
17: 38,116,543 (GRCm39) |
C169Y |
probably damaging |
Het |
| Osbpl7 |
T |
G |
11: 96,950,989 (GRCm39) |
L612R |
probably damaging |
Het |
| Polq |
A |
T |
16: 36,892,133 (GRCm39) |
M2012L |
possibly damaging |
Het |
| Ppp1r7 |
G |
A |
1: 93,274,000 (GRCm39) |
D59N |
probably benign |
Het |
| Ppp4r3c2 |
A |
T |
X: 88,798,322 (GRCm39) |
K718M |
probably damaging |
Het |
| Ptbp1 |
A |
C |
10: 79,699,045 (GRCm39) |
E534D |
probably benign |
Het |
| Qser1 |
A |
G |
2: 104,619,820 (GRCm39) |
Y241H |
probably damaging |
Het |
| Rbx1 |
T |
C |
15: 81,358,078 (GRCm39) |
L88P |
probably damaging |
Het |
| Rft1 |
T |
C |
14: 30,411,838 (GRCm39) |
L462P |
probably damaging |
Het |
| Serpinb9f |
T |
A |
13: 33,511,290 (GRCm39) |
L77* |
probably null |
Het |
| Shisa9 |
T |
C |
16: 11,815,015 (GRCm39) |
M221T |
possibly damaging |
Het |
| Slc12a2 |
T |
G |
18: 58,012,281 (GRCm39) |
F135V |
possibly damaging |
Het |
| Slc23a1 |
C |
T |
18: 35,755,588 (GRCm39) |
G436E |
probably damaging |
Het |
| Slc44a2 |
T |
C |
9: 21,253,495 (GRCm39) |
F88L |
probably benign |
Het |
| Snx21 |
A |
G |
2: 164,633,805 (GRCm39) |
E197G |
probably damaging |
Het |
| Srarp |
T |
C |
4: 141,160,707 (GRCm39) |
D42G |
possibly damaging |
Het |
| St6galnac1 |
T |
A |
11: 116,659,714 (GRCm39) |
M200L |
probably benign |
Het |
| Stambpl1 |
A |
T |
19: 34,211,401 (GRCm39) |
Q154L |
probably benign |
Het |
| Szt2 |
G |
T |
4: 118,250,033 (GRCm39) |
R492S |
possibly damaging |
Het |
| Thbs3 |
G |
A |
3: 89,132,698 (GRCm39) |
R880Q |
probably benign |
Het |
| Tnks |
A |
T |
8: 35,340,199 (GRCm39) |
L473H |
probably damaging |
Het |
| Ttc4 |
A |
G |
4: 106,522,893 (GRCm39) |
S342P |
probably benign |
Het |
| Uckl1 |
T |
A |
2: 181,211,512 (GRCm39) |
M463L |
probably benign |
Het |
| Unc80 |
T |
C |
1: 66,688,192 (GRCm39) |
S2397P |
possibly damaging |
Het |
| Vmn2r73 |
T |
A |
7: 85,507,128 (GRCm39) |
H728L |
probably benign |
Het |
| Vsig10l |
T |
C |
7: 43,113,378 (GRCm39) |
V110A |
probably damaging |
Het |
| Zgrf1 |
T |
A |
3: 127,354,564 (GRCm39) |
L61* |
probably null |
Het |
| Zswim5 |
A |
G |
4: 116,843,989 (GRCm39) |
Y1009C |
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 |
|
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 |
|
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'- TTGTGTAACAGCAGAACAAACG -3'
(R):5'- GAACCAGGCCTCTGAAAGTG -3'
Sequencing Primer
(F):5'- ACAGCTTTGTAAACAGTCACAG -3'
(R):5'- CAGGCCTCTGAAAGTGTAAACTTTAG -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation