Incidental Mutation 'R2264:Dpp4'
| ID |
243970 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dpp4
|
| Ensembl Gene |
ENSMUSG00000035000 |
| Gene Name |
dipeptidylpeptidase 4 |
| Synonyms |
Cd26, THAM, Dpp-4 |
| MMRRC Submission |
040264-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2264 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
62160417-62242575 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 62208583 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glycine
at position 187
(V187G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000044050
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047812]
|
| AlphaFold |
P28843 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000047812
AA Change: V187G
PolyPhen 2
Score 0.714 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000044050
Gene: ENSMUSG00000035000
AA Change: V187G
| 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
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150979
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.1%
|
| Validation Efficiency |
94% (65/69) |
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aatk |
A |
G |
11: 119,901,100 (GRCm39) |
S1042P |
probably damaging |
Het |
| Armc1 |
C |
T |
3: 19,189,033 (GRCm39) |
V211I |
probably damaging |
Het |
| B4galnt3 |
T |
C |
6: 120,180,771 (GRCm39) |
*986W |
probably null |
Het |
| BC024139 |
T |
A |
15: 76,010,117 (GRCm39) |
D105V |
probably damaging |
Het |
| BC049715 |
C |
T |
6: 136,817,434 (GRCm39) |
Q225* |
probably null |
Het |
| Cadps2 |
T |
C |
6: 23,323,339 (GRCm39) |
H1043R |
probably benign |
Het |
| Ccdc42 |
T |
C |
11: 68,478,477 (GRCm39) |
V33A |
probably benign |
Het |
| Cldn1 |
A |
G |
16: 26,177,949 (GRCm39) |
Y159H |
probably damaging |
Het |
| Cog6 |
A |
T |
3: 52,900,332 (GRCm39) |
C476* |
probably null |
Het |
| Col14a1 |
T |
G |
15: 55,330,086 (GRCm39) |
|
probably null |
Het |
| Crisp1 |
C |
T |
17: 40,623,965 (GRCm39) |
M1I |
probably null |
Het |
| Dip2b |
T |
A |
15: 100,101,097 (GRCm39) |
S1297T |
probably benign |
Het |
| Dlgap4 |
A |
G |
2: 156,543,383 (GRCm39) |
E262G |
probably benign |
Het |
| Dnai7 |
A |
G |
6: 145,154,155 (GRCm39) |
|
probably benign |
Het |
| F5 |
A |
G |
1: 164,021,971 (GRCm39) |
D1482G |
probably benign |
Het |
| Fads6 |
T |
A |
11: 115,177,061 (GRCm39) |
T132S |
probably damaging |
Het |
| Fat4 |
A |
G |
3: 38,944,571 (GRCm39) |
I1155V |
probably benign |
Het |
| Fermt1 |
C |
T |
2: 132,757,110 (GRCm39) |
|
probably null |
Het |
| Fstl1 |
C |
T |
16: 37,597,653 (GRCm39) |
|
probably benign |
Het |
| Get3 |
G |
A |
8: 85,751,887 (GRCm39) |
|
probably benign |
Het |
| Gm5089 |
T |
C |
14: 122,673,514 (GRCm39) |
Y69C |
unknown |
Het |
| Gm9871 |
T |
C |
6: 101,773,201 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr89 |
A |
G |
3: 96,779,831 (GRCm39) |
S375P |
probably damaging |
Het |
| Gtf2h4 |
A |
G |
17: 35,979,556 (GRCm39) |
|
probably benign |
Het |
| Gtsf1 |
T |
A |
15: 103,328,391 (GRCm39) |
N148I |
possibly damaging |
Het |
| Hexa |
T |
C |
9: 59,462,660 (GRCm39) |
S129P |
probably damaging |
Het |
| Iigp1 |
A |
T |
18: 60,523,738 (GRCm39) |
E285D |
probably benign |
Het |
| Il23r |
T |
A |
6: 67,403,651 (GRCm39) |
|
probably null |
Het |
| Iqch |
T |
C |
9: 63,419,581 (GRCm39) |
K463R |
probably benign |
Het |
| Kcnd1 |
A |
G |
X: 7,690,323 (GRCm39) |
|
probably null |
Het |
| Kif26b |
A |
T |
1: 178,756,407 (GRCm39) |
|
probably null |
Het |
| Loxl1 |
A |
G |
9: 58,204,961 (GRCm39) |
V418A |
probably damaging |
Het |
| Lrp2 |
T |
C |
2: 69,312,710 (GRCm39) |
D2526G |
possibly damaging |
Het |
| Map4 |
G |
T |
9: 109,910,525 (GRCm39) |
G851C |
probably damaging |
Het |
| Mtmr11 |
A |
T |
3: 96,076,413 (GRCm39) |
E456V |
possibly damaging |
Het |
| Muc13 |
G |
A |
16: 33,628,409 (GRCm39) |
|
probably null |
Het |
| Myo18a |
C |
A |
11: 77,710,798 (GRCm39) |
|
probably benign |
Het |
| Nphp4 |
T |
A |
4: 152,587,465 (GRCm39) |
|
probably benign |
Het |
| Nrg3 |
T |
C |
14: 38,103,659 (GRCm39) |
E445G |
probably damaging |
Het |
| Ntrk1 |
A |
G |
3: 87,686,941 (GRCm39) |
|
probably null |
Het |
| Or8b1 |
G |
T |
9: 38,399,351 (GRCm39) |
V9L |
possibly damaging |
Het |
| Parp6 |
T |
C |
9: 59,531,288 (GRCm39) |
S57P |
probably damaging |
Het |
| Pcdhb12 |
A |
G |
18: 37,569,858 (GRCm39) |
N335D |
probably damaging |
Het |
| Pdzph1 |
T |
C |
17: 59,195,162 (GRCm39) |
|
probably null |
Het |
| Pea15a |
C |
T |
1: 172,026,704 (GRCm39) |
R79H |
probably benign |
Het |
| Pik3ca |
A |
C |
3: 32,492,076 (GRCm39) |
I225L |
possibly damaging |
Het |
| Pim3 |
T |
A |
15: 88,748,793 (GRCm39) |
I270N |
probably damaging |
Het |
| Pkd1l1 |
T |
A |
11: 8,829,112 (GRCm39) |
R1043S |
probably damaging |
Het |
| Plekhg6 |
A |
G |
6: 125,354,431 (GRCm39) |
S70P |
probably benign |
Het |
| Ptpn13 |
T |
A |
5: 103,637,527 (GRCm39) |
D138E |
possibly damaging |
Het |
| Rap1gap |
T |
C |
4: 137,455,034 (GRCm39) |
L354P |
probably benign |
Het |
| Rsf1 |
CG |
CGACGGCGGTG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Het |
| Sf3a1 |
T |
A |
11: 4,127,443 (GRCm39) |
S590T |
probably benign |
Het |
| Slc14a2 |
T |
C |
18: 78,206,304 (GRCm39) |
|
probably benign |
Het |
| Slfn3 |
T |
G |
11: 83,103,798 (GRCm39) |
I223S |
probably benign |
Het |
| Smarca1 |
C |
T |
X: 46,964,160 (GRCm39) |
V331I |
probably benign |
Het |
| Soat1 |
A |
G |
1: 156,265,267 (GRCm39) |
|
probably benign |
Het |
| Tinagl1 |
A |
G |
4: 130,061,226 (GRCm39) |
V308A |
probably benign |
Het |
| Tomm22 |
T |
A |
15: 79,555,488 (GRCm39) |
Y78N |
probably damaging |
Het |
| Ttll1 |
T |
C |
15: 83,380,609 (GRCm39) |
Y252C |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,623,474 (GRCm39) |
V15368I |
probably benign |
Het |
| Ubr4 |
T |
C |
4: 139,147,684 (GRCm39) |
|
probably benign |
Het |
| Wbp2 |
T |
C |
11: 115,970,424 (GRCm39) |
|
probably null |
Het |
| Xkr7 |
A |
T |
2: 152,896,177 (GRCm39) |
I344F |
probably damaging |
Het |
| Zfp947 |
A |
T |
17: 22,364,919 (GRCm39) |
C252S |
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 |
|
|
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 |
|
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'- TGCTCCAGGAACAGGTAAGG -3'
(R):5'- AACAGGTTCTTAGTGAGACAGATTC -3'
Sequencing Primer
(F):5'- AACAGGTAAGGGTTCTGTGTCAC -3'
(R):5'- TGGTTATCTTCTTCTTTGCATAGTAC -3'
|
| Posted On |
2014-10-16 |
Incidental Mutation