Incidental Mutation 'R1546:Dpp8'
| ID |
172185 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dpp8
|
| Ensembl Gene |
ENSMUSG00000032393 |
| Gene Name |
dipeptidylpeptidase 8 |
| Synonyms |
2310004I03Rik, 4932434F09Rik |
| MMRRC Submission |
039585-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.176)
|
| Stock # |
R1546 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
64939696-64989933 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 64970775 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Tyrosine
at position 545
(H545Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126065
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034960]
[ENSMUST00000167773]
[ENSMUST00000217434]
|
| AlphaFold |
Q80YA7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000034960
AA Change: H545Y
PolyPhen 2
Score 0.762 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000034960
Gene: ENSMUSG00000032393
AA Change: H545Y
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
144 |
154 |
N/A |
INTRINSIC |
|
Pfam:DPPIV_N
|
168 |
589 |
1e-100 |
PFAM |
|
Pfam:Peptidase_S15
|
636 |
830 |
7.3e-11 |
PFAM |
|
Pfam:Abhydrolase_5
|
671 |
860 |
4.8e-9 |
PFAM |
|
Pfam:Peptidase_S9
|
676 |
885 |
6.5e-62 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000167773
AA Change: H545Y
PolyPhen 2
Score 0.762 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000126065
Gene: ENSMUSG00000032393
AA Change: H545Y
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
144 |
154 |
N/A |
INTRINSIC |
|
Pfam:DPPIV_N
|
168 |
589 |
3.3e-102 |
PFAM |
|
Pfam:Peptidase_S15
|
636 |
830 |
7.3e-11 |
PFAM |
|
Pfam:Abhydrolase_5
|
670 |
860 |
6.5e-9 |
PFAM |
|
Pfam:Peptidase_S9
|
677 |
885 |
8.6e-63 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000214559
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216309
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217434
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.0%
- 10x: 95.2%
- 20x: 88.2%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the peptidase S9B family, a small family of dipeptidyl peptidases that are able to cleave peptide substrates at a prolyl bond. The encoded protein shares similarity with dipeptidyl peptidase IV in that it is ubiquitously expressed, and hydrolyzes the same substrates. These similarities suggest that, like dipeptidyl peptidase IV, this protein may play a role in T-cell activation and immune function. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2510039O18Rik |
T |
C |
4: 148,026,232 (GRCm39) |
S251P |
probably damaging |
Het |
| Aaas |
C |
A |
15: 102,255,153 (GRCm39) |
R79L |
probably benign |
Het |
| Acap2 |
C |
A |
16: 30,923,754 (GRCm39) |
E657* |
probably null |
Het |
| Adgrg5 |
A |
T |
8: 95,668,258 (GRCm39) |
E441V |
probably benign |
Het |
| Alkbh2 |
C |
T |
5: 114,262,287 (GRCm39) |
E148K |
probably damaging |
Het |
| AY358078 |
C |
T |
14: 52,057,876 (GRCm39) |
|
probably null |
Het |
| Bco2 |
A |
G |
9: 50,461,929 (GRCm39) |
V25A |
possibly damaging |
Het |
| Bltp1 |
T |
C |
3: 36,924,205 (GRCm39) |
V10A |
possibly damaging |
Het |
| Carf |
T |
A |
1: 60,165,195 (GRCm39) |
|
probably null |
Het |
| Ccdc38 |
A |
T |
10: 93,401,741 (GRCm39) |
I134L |
probably benign |
Het |
| Cgnl1 |
A |
G |
9: 71,633,097 (GRCm39) |
S85P |
probably benign |
Het |
| Ctsl |
A |
G |
13: 64,515,693 (GRCm39) |
V126A |
probably damaging |
Het |
| Cwc27 |
A |
C |
13: 104,938,693 (GRCm39) |
S206A |
probably damaging |
Het |
| D630045J12Rik |
A |
G |
6: 38,167,590 (GRCm39) |
I1004T |
probably damaging |
Het |
| Dgki |
A |
G |
6: 37,027,138 (GRCm39) |
V401A |
probably damaging |
Het |
| Dpy19l1 |
A |
T |
9: 24,386,680 (GRCm39) |
C205S |
probably damaging |
Het |
| Enpp2 |
C |
T |
15: 54,709,225 (GRCm39) |
E797K |
probably benign |
Het |
| Ephb2 |
C |
T |
4: 136,498,320 (GRCm39) |
R253H |
probably damaging |
Het |
| Esrra |
T |
C |
19: 6,897,665 (GRCm39) |
T31A |
probably benign |
Het |
| Ewsr1 |
C |
A |
11: 5,028,574 (GRCm39) |
|
probably benign |
Het |
| Flt4 |
G |
T |
11: 49,522,808 (GRCm39) |
R475L |
probably benign |
Het |
| Gm13547 |
A |
G |
2: 29,653,921 (GRCm39) |
E138G |
possibly damaging |
Het |
| Gm572 |
A |
T |
4: 148,751,276 (GRCm39) |
R216S |
possibly damaging |
Het |
| H2ac8 |
A |
G |
13: 23,755,119 (GRCm39) |
V55A |
probably damaging |
Het |
| Hapln2 |
T |
A |
3: 87,931,404 (GRCm39) |
Y37F |
probably benign |
Het |
| Hcn1 |
ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC |
ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC |
13: 118,112,302 (GRCm39) |
|
probably benign |
Het |
| Hhla1 |
C |
T |
15: 65,805,176 (GRCm39) |
A369T |
probably benign |
Het |
| Hmg20a |
T |
A |
9: 56,374,685 (GRCm39) |
F14I |
possibly damaging |
Het |
| Iqca1l |
A |
T |
5: 24,760,426 (GRCm39) |
|
probably null |
Het |
| Itga2 |
A |
T |
13: 114,985,956 (GRCm39) |
S940T |
possibly damaging |
Het |
| Kcnt2 |
A |
G |
1: 140,359,116 (GRCm39) |
N377S |
probably benign |
Het |
| Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
| Lhx6 |
A |
G |
2: 35,981,049 (GRCm39) |
S298P |
probably benign |
Het |
| Lrp2 |
C |
T |
2: 69,332,954 (GRCm39) |
G1521D |
probably damaging |
Het |
| Mogat2 |
A |
G |
7: 98,881,766 (GRCm39) |
W57R |
probably damaging |
Het |
| Ms4a3 |
T |
C |
19: 11,610,271 (GRCm39) |
N97S |
probably benign |
Het |
| Myo1a |
A |
G |
10: 127,548,493 (GRCm39) |
D380G |
probably damaging |
Het |
| Nufip2 |
T |
A |
11: 77,582,432 (GRCm39) |
D115E |
probably damaging |
Het |
| Ogn |
A |
T |
13: 49,762,809 (GRCm39) |
K50N |
probably benign |
Het |
| Or5ac20 |
T |
C |
16: 59,104,366 (GRCm39) |
R165G |
probably damaging |
Het |
| Or8c10 |
A |
T |
9: 38,278,844 (GRCm39) |
M1L |
probably benign |
Het |
| Pde8b |
G |
A |
13: 95,182,951 (GRCm39) |
T269I |
probably damaging |
Het |
| Ppargc1b |
A |
T |
18: 61,443,677 (GRCm39) |
D495E |
probably damaging |
Het |
| Prdm16 |
C |
A |
4: 154,613,117 (GRCm39) |
K103N |
possibly damaging |
Het |
| Proc |
C |
T |
18: 32,260,463 (GRCm39) |
G221S |
probably damaging |
Het |
| Pxk |
A |
G |
14: 8,164,091 (GRCm38) |
N561S |
probably damaging |
Het |
| Rapgef5 |
A |
G |
12: 117,610,721 (GRCm39) |
N323S |
probably benign |
Het |
| Slc6a13 |
T |
G |
6: 121,309,333 (GRCm39) |
D281E |
possibly damaging |
Het |
| Slc8a1 |
T |
C |
17: 81,955,676 (GRCm39) |
Y454C |
probably damaging |
Het |
| Sntg2 |
C |
A |
12: 30,338,295 (GRCm39) |
L115F |
probably damaging |
Het |
| Spata13 |
A |
G |
14: 60,993,857 (GRCm39) |
D1103G |
probably damaging |
Het |
| Supv3l1 |
G |
A |
10: 62,268,225 (GRCm39) |
A540V |
probably benign |
Het |
| Tet1 |
A |
T |
10: 62,648,689 (GRCm39) |
D1914E |
probably damaging |
Het |
| Tmem30a |
A |
G |
9: 79,678,570 (GRCm39) |
*329Q |
probably null |
Het |
| Tspan5 |
A |
T |
3: 138,604,102 (GRCm39) |
L162F |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,549,396 (GRCm39) |
K31760N |
probably damaging |
Het |
| Tyr |
A |
T |
7: 87,087,200 (GRCm39) |
D437E |
probably benign |
Het |
| Ubr4 |
T |
A |
4: 139,144,238 (GRCm39) |
L1427* |
probably null |
Het |
| Utrn |
C |
A |
10: 12,312,108 (GRCm39) |
D616Y |
probably damaging |
Het |
| Vcan |
A |
G |
13: 89,841,075 (GRCm39) |
S1490P |
probably damaging |
Het |
| Vcl |
T |
A |
14: 21,059,018 (GRCm39) |
C545S |
probably damaging |
Het |
| Vmn2r4 |
C |
T |
3: 64,314,309 (GRCm39) |
G224D |
probably damaging |
Het |
| Vmn2r97 |
T |
A |
17: 19,168,110 (GRCm39) |
V788E |
probably damaging |
Het |
| Vrtn |
G |
A |
12: 84,695,282 (GRCm39) |
V11M |
probably damaging |
Het |
| Zbtb21 |
A |
T |
16: 97,753,227 (GRCm39) |
V380D |
probably damaging |
Het |
| Zcchc14 |
G |
A |
8: 122,331,002 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Dpp8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00519:Dpp8
|
APN |
9 |
64,985,290 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00576:Dpp8
|
APN |
9 |
64,951,111 (GRCm39) |
missense |
probably benign |
0.32 |
|
IGL01303:Dpp8
|
APN |
9 |
64,962,294 (GRCm39) |
splice site |
probably benign |
|
|
IGL01506:Dpp8
|
APN |
9 |
64,970,699 (GRCm39) |
splice site |
probably benign |
|
|
IGL01544:Dpp8
|
APN |
9 |
64,962,270 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL02387:Dpp8
|
APN |
9 |
64,952,998 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02567:Dpp8
|
APN |
9 |
64,986,058 (GRCm39) |
nonsense |
probably null |
|
|
IGL02611:Dpp8
|
APN |
9 |
64,963,075 (GRCm39) |
missense |
probably benign |
0.15 |
|
IGL02723:Dpp8
|
APN |
9 |
64,949,549 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL02927:Dpp8
|
APN |
9 |
64,967,551 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL03116:Dpp8
|
APN |
9 |
64,973,749 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL03135:Dpp8
|
APN |
9 |
64,960,322 (GRCm39) |
splice site |
probably null |
|
|
IGL03356:Dpp8
|
APN |
9 |
64,953,069 (GRCm39) |
missense |
probably benign |
0.00 |
|
almaviva
|
UTSW |
9 |
64,983,085 (GRCm39) |
missense |
probably damaging |
1.00 |
|
bartolo
|
UTSW |
9 |
64,986,000 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Cherubino
|
UTSW |
9 |
64,962,205 (GRCm39) |
missense |
probably benign |
|
|
rosina
|
UTSW |
9 |
64,983,066 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL03050:Dpp8
|
UTSW |
9 |
64,962,118 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0498:Dpp8
|
UTSW |
9 |
64,953,077 (GRCm39) |
splice site |
probably benign |
|
|
R0594:Dpp8
|
UTSW |
9 |
64,944,280 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0675:Dpp8
|
UTSW |
9 |
64,973,784 (GRCm39) |
splice site |
probably benign |
|
|
R0699:Dpp8
|
UTSW |
9 |
64,962,176 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0831:Dpp8
|
UTSW |
9 |
64,985,961 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R1148:Dpp8
|
UTSW |
9 |
64,961,114 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1148:Dpp8
|
UTSW |
9 |
64,961,114 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1512:Dpp8
|
UTSW |
9 |
64,971,096 (GRCm39) |
splice site |
probably benign |
|
|
R1515:Dpp8
|
UTSW |
9 |
64,986,030 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1556:Dpp8
|
UTSW |
9 |
64,958,761 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2027:Dpp8
|
UTSW |
9 |
64,986,056 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2104:Dpp8
|
UTSW |
9 |
64,981,849 (GRCm39) |
splice site |
probably null |
|
|
R2113:Dpp8
|
UTSW |
9 |
64,971,150 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2656:Dpp8
|
UTSW |
9 |
64,988,086 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4237:Dpp8
|
UTSW |
9 |
64,962,205 (GRCm39) |
missense |
probably benign |
|
|
R4238:Dpp8
|
UTSW |
9 |
64,962,205 (GRCm39) |
missense |
probably benign |
|
|
R4239:Dpp8
|
UTSW |
9 |
64,962,205 (GRCm39) |
missense |
probably benign |
|
|
R4595:Dpp8
|
UTSW |
9 |
64,983,085 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4614:Dpp8
|
UTSW |
9 |
64,973,678 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4946:Dpp8
|
UTSW |
9 |
64,963,200 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5338:Dpp8
|
UTSW |
9 |
64,971,206 (GRCm39) |
nonsense |
probably null |
|
|
R5378:Dpp8
|
UTSW |
9 |
64,985,296 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5506:Dpp8
|
UTSW |
9 |
64,985,391 (GRCm39) |
splice site |
probably null |
|
|
R5644:Dpp8
|
UTSW |
9 |
64,953,017 (GRCm39) |
nonsense |
probably null |
|
|
R5862:Dpp8
|
UTSW |
9 |
64,953,004 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6437:Dpp8
|
UTSW |
9 |
64,981,860 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6783:Dpp8
|
UTSW |
9 |
64,970,844 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R6863:Dpp8
|
UTSW |
9 |
64,942,290 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7192:Dpp8
|
UTSW |
9 |
64,953,068 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R7461:Dpp8
|
UTSW |
9 |
64,960,402 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R7514:Dpp8
|
UTSW |
9 |
64,986,036 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7548:Dpp8
|
UTSW |
9 |
64,944,517 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7584:Dpp8
|
UTSW |
9 |
64,986,064 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7605:Dpp8
|
UTSW |
9 |
64,962,240 (GRCm39) |
missense |
probably benign |
0.33 |
|
R7613:Dpp8
|
UTSW |
9 |
64,960,402 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R7665:Dpp8
|
UTSW |
9 |
64,986,000 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7698:Dpp8
|
UTSW |
9 |
64,949,618 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7844:Dpp8
|
UTSW |
9 |
64,952,949 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7935:Dpp8
|
UTSW |
9 |
64,944,262 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R8079:Dpp8
|
UTSW |
9 |
64,951,017 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8121:Dpp8
|
UTSW |
9 |
64,985,362 (GRCm39) |
missense |
probably benign |
0.10 |
|
R8315:Dpp8
|
UTSW |
9 |
64,988,133 (GRCm39) |
makesense |
probably null |
|
|
R8419:Dpp8
|
UTSW |
9 |
64,988,037 (GRCm39) |
missense |
probably benign |
0.34 |
|
R8516:Dpp8
|
UTSW |
9 |
64,985,291 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8524:Dpp8
|
UTSW |
9 |
64,950,989 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8896:Dpp8
|
UTSW |
9 |
64,985,318 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R8922:Dpp8
|
UTSW |
9 |
64,981,793 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8935:Dpp8
|
UTSW |
9 |
64,983,066 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9463:Dpp8
|
UTSW |
9 |
64,973,700 (GRCm39) |
nonsense |
probably null |
|
|
R9518:Dpp8
|
UTSW |
9 |
64,981,866 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R9732:Dpp8
|
UTSW |
9 |
64,970,862 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9751:Dpp8
|
UTSW |
9 |
64,960,453 (GRCm39) |
missense |
probably null |
0.65 |
|
Z1177:Dpp8
|
UTSW |
9 |
64,973,767 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Dpp8
|
UTSW |
9 |
64,971,148 (GRCm39) |
frame shift |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TAAACTACACCCTGGCTGACGCTG -3'
(R):5'- GCTTCTGTGGGTCAATGTCACCAAC -3'
Sequencing Primer
(F):5'- GACATTACCCCAGTGTGTGTAAC -3'
(R):5'- GGGTCAATGTCACCAACTTTCAC -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation