Incidental Mutation 'R0418:Dpp9'
ID |
36898 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dpp9
|
Ensembl Gene |
ENSMUSG00000001229 |
Gene Name |
dipeptidylpeptidase 9 |
Synonyms |
DPRP2, 6430584G11Rik |
MMRRC Submission |
038620-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R0418 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
56493807-56525905 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
C to T
at 56501404 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000046604
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038794]
|
AlphaFold |
Q8BVG4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000038794
|
SMART Domains |
Protein: ENSMUSP00000046604 Gene: ENSMUSG00000001229
Domain | Start | End | E-Value | Type |
low complexity region
|
122 |
133 |
N/A |
INTRINSIC |
Pfam:DPPIV_N
|
145 |
569 |
5.2e-109 |
PFAM |
Pfam:Peptidase_S15
|
617 |
793 |
2.8e-10 |
PFAM |
Pfam:Peptidase_S9
|
657 |
862 |
2.5e-57 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223616
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 95.2%
|
Validation Efficiency |
98% (64/65) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is a member of the S9B family in clan SC of the serine proteases. The protein has been shown to have post-proline dipeptidyl aminopeptidase activity, cleaving Xaa-Pro dipeptides from the N-termini of proteins. Although the activity of this protein is similar to that of dipeptidyl peptidase 4 (DPP4), it does not appear to be membrane bound. In general, dipeptidyl peptidases appear to be involved in the regulation of the activity of their substrates and have been linked to a variety of diseases including type 2 diabetes, obesity and cancer. Several transcript variants of this gene have been described but not fully characterized. [provided by RefSeq, Jul 2008] PHENOTYPE: Homozygous mutants display partial neonatal lethality and complete lethality at preweaning stages with defects suckling due to undeveveloped tongue muscle. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A930018P22Rik |
G |
T |
2: 103,953,675 (GRCm39) |
|
probably null |
Het |
Abca14 |
T |
C |
7: 119,806,657 (GRCm39) |
L19P |
probably damaging |
Het |
Abcb1a |
T |
A |
5: 8,763,281 (GRCm39) |
V603E |
probably damaging |
Het |
Acsl5 |
A |
G |
19: 55,261,238 (GRCm39) |
D65G |
probably benign |
Het |
Acss3 |
T |
C |
10: 106,859,773 (GRCm39) |
Y311C |
probably damaging |
Het |
Ak8 |
T |
G |
2: 28,623,868 (GRCm39) |
I151S |
possibly damaging |
Het |
Aldh1a1 |
T |
C |
19: 20,606,413 (GRCm39) |
|
probably benign |
Het |
Aldh1l1 |
A |
G |
6: 90,546,875 (GRCm39) |
R393G |
possibly damaging |
Het |
Ankhd1 |
T |
A |
18: 36,767,353 (GRCm39) |
L1164Q |
probably damaging |
Het |
Ascc3 |
G |
T |
10: 50,625,022 (GRCm39) |
V1637L |
probably benign |
Het |
Atf5 |
A |
G |
7: 44,462,821 (GRCm39) |
M101T |
possibly damaging |
Het |
Det1 |
T |
C |
7: 78,493,765 (GRCm39) |
T80A |
probably benign |
Het |
Fam13c |
A |
G |
10: 70,370,591 (GRCm39) |
R244G |
probably damaging |
Het |
Fat3 |
A |
T |
9: 16,158,192 (GRCm39) |
N1139K |
probably damaging |
Het |
Fbxo17 |
A |
G |
7: 28,432,916 (GRCm39) |
T146A |
possibly damaging |
Het |
Fli1 |
T |
C |
9: 32,363,425 (GRCm39) |
|
probably benign |
Het |
Glb1l2 |
T |
G |
9: 26,705,397 (GRCm39) |
D151A |
probably damaging |
Het |
Gli2 |
G |
A |
1: 118,768,220 (GRCm39) |
T669I |
possibly damaging |
Het |
Igsf3 |
C |
A |
3: 101,342,751 (GRCm39) |
R463S |
probably damaging |
Het |
Il1rl2 |
T |
C |
1: 40,365,662 (GRCm39) |
V3A |
unknown |
Het |
Irx3 |
G |
A |
8: 92,526,708 (GRCm39) |
S332F |
probably benign |
Het |
Katnb1 |
C |
T |
8: 95,822,286 (GRCm39) |
T303M |
possibly damaging |
Het |
Lrrc31 |
A |
T |
3: 30,743,383 (GRCm39) |
L194Q |
probably damaging |
Het |
Lrrc37a |
T |
G |
11: 103,394,264 (GRCm39) |
E387A |
probably benign |
Het |
Mapk14 |
T |
C |
17: 28,910,763 (GRCm39) |
I17T |
probably benign |
Het |
Mtif2 |
A |
G |
11: 29,483,401 (GRCm39) |
|
probably benign |
Het |
Myo16 |
A |
G |
8: 10,619,918 (GRCm39) |
T1490A |
probably benign |
Het |
Nfasc |
A |
G |
1: 132,539,333 (GRCm39) |
V399A |
probably damaging |
Het |
Nhsl3 |
A |
G |
4: 129,117,477 (GRCm39) |
S396P |
probably damaging |
Het |
Nobox |
T |
C |
6: 43,284,169 (GRCm39) |
K1E |
probably null |
Het |
Nr2c1 |
A |
T |
10: 94,017,374 (GRCm39) |
M371L |
probably benign |
Het |
Oplah |
C |
T |
15: 76,182,687 (GRCm39) |
R924H |
probably benign |
Het |
Or10ak16 |
C |
T |
4: 118,750,448 (GRCm39) |
T56I |
possibly damaging |
Het |
Or51a10 |
G |
A |
7: 103,698,979 (GRCm39) |
T194I |
probably benign |
Het |
Pappa2 |
C |
A |
1: 158,544,560 (GRCm39) |
C1756F |
probably damaging |
Het |
Pdzd8 |
G |
A |
19: 59,289,361 (GRCm39) |
R680C |
probably damaging |
Het |
Rassf3 |
G |
A |
10: 121,253,075 (GRCm39) |
T44M |
probably benign |
Het |
Rmnd1 |
T |
C |
10: 4,377,693 (GRCm39) |
|
probably null |
Het |
Rnf126 |
C |
T |
10: 79,598,477 (GRCm39) |
|
probably benign |
Het |
Rnf144b |
T |
C |
13: 47,397,966 (GRCm39) |
S299P |
probably benign |
Het |
Ryr2 |
A |
G |
13: 11,848,981 (GRCm39) |
|
probably benign |
Het |
Scel |
T |
A |
14: 103,840,690 (GRCm39) |
S511T |
probably benign |
Het |
Slc16a10 |
G |
T |
10: 39,916,627 (GRCm39) |
S138* |
probably null |
Het |
Slc36a4 |
A |
T |
9: 15,645,562 (GRCm39) |
I330F |
probably damaging |
Het |
Slc5a8 |
A |
G |
10: 88,722,420 (GRCm39) |
I84M |
probably benign |
Het |
Spag9 |
T |
C |
11: 93,982,579 (GRCm39) |
|
probably benign |
Het |
Suco |
C |
T |
1: 161,662,419 (GRCm39) |
V671I |
probably benign |
Het |
Suox |
G |
A |
10: 128,506,754 (GRCm39) |
P425S |
probably damaging |
Het |
Tmem266 |
T |
A |
9: 55,344,697 (GRCm39) |
V443E |
probably benign |
Het |
Tmprss11f |
A |
T |
5: 86,704,870 (GRCm39) |
I16N |
probably benign |
Het |
Tnik |
T |
A |
3: 28,625,029 (GRCm39) |
Y321* |
probably null |
Het |
Tnrc6b |
T |
C |
15: 80,797,524 (GRCm39) |
M1357T |
probably benign |
Het |
Tpbg |
C |
A |
9: 85,726,803 (GRCm39) |
Y257* |
probably null |
Het |
Usp37 |
A |
T |
1: 74,529,266 (GRCm39) |
S138T |
probably benign |
Het |
Veph1 |
T |
A |
3: 66,162,449 (GRCm39) |
R70* |
probably null |
Het |
Vmn2r17 |
C |
T |
5: 109,600,747 (GRCm39) |
P682S |
probably damaging |
Het |
Vmn2r79 |
A |
C |
7: 86,651,611 (GRCm39) |
N337H |
probably benign |
Het |
Vstm2b |
A |
G |
7: 40,551,876 (GRCm39) |
D68G |
probably damaging |
Het |
Vwa7 |
G |
T |
17: 35,236,933 (GRCm39) |
A167S |
possibly damaging |
Het |
Zfp647 |
A |
T |
15: 76,795,586 (GRCm39) |
I358N |
probably damaging |
Het |
Zic2 |
CCCACCACCACCATCACCACCACCACC |
CCCACCATCACCACCACCACC |
14: 122,713,776 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Dpp9 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00895:Dpp9
|
APN |
17 |
56,512,240 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL00920:Dpp9
|
APN |
17 |
56,507,599 (GRCm39) |
missense |
probably benign |
0.01 |
IGL01568:Dpp9
|
APN |
17 |
56,498,159 (GRCm39) |
missense |
probably benign |
|
IGL01583:Dpp9
|
APN |
17 |
56,518,666 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01613:Dpp9
|
APN |
17 |
56,497,713 (GRCm39) |
missense |
probably benign |
|
IGL03371:Dpp9
|
APN |
17 |
56,494,377 (GRCm39) |
missense |
probably benign |
0.00 |
R0100:Dpp9
|
UTSW |
17 |
56,512,854 (GRCm39) |
missense |
possibly damaging |
0.75 |
R0100:Dpp9
|
UTSW |
17 |
56,512,854 (GRCm39) |
missense |
possibly damaging |
0.75 |
R1163:Dpp9
|
UTSW |
17 |
56,506,426 (GRCm39) |
missense |
possibly damaging |
0.90 |
R1680:Dpp9
|
UTSW |
17 |
56,497,103 (GRCm39) |
missense |
probably benign |
0.00 |
R1709:Dpp9
|
UTSW |
17 |
56,501,431 (GRCm39) |
missense |
probably benign |
|
R1762:Dpp9
|
UTSW |
17 |
56,495,362 (GRCm39) |
missense |
probably damaging |
1.00 |
R1809:Dpp9
|
UTSW |
17 |
56,506,038 (GRCm39) |
missense |
probably damaging |
1.00 |
R1853:Dpp9
|
UTSW |
17 |
56,509,885 (GRCm39) |
missense |
probably benign |
0.00 |
R1854:Dpp9
|
UTSW |
17 |
56,509,885 (GRCm39) |
missense |
probably benign |
0.00 |
R2162:Dpp9
|
UTSW |
17 |
56,506,113 (GRCm39) |
missense |
possibly damaging |
0.81 |
R2205:Dpp9
|
UTSW |
17 |
56,506,287 (GRCm39) |
missense |
possibly damaging |
0.87 |
R2301:Dpp9
|
UTSW |
17 |
56,501,973 (GRCm39) |
missense |
probably benign |
0.00 |
R2520:Dpp9
|
UTSW |
17 |
56,513,868 (GRCm39) |
missense |
probably damaging |
1.00 |
R3831:Dpp9
|
UTSW |
17 |
56,506,113 (GRCm39) |
missense |
possibly damaging |
0.81 |
R3833:Dpp9
|
UTSW |
17 |
56,506,113 (GRCm39) |
missense |
possibly damaging |
0.81 |
R4364:Dpp9
|
UTSW |
17 |
56,494,391 (GRCm39) |
missense |
possibly damaging |
0.79 |
R4737:Dpp9
|
UTSW |
17 |
56,505,970 (GRCm39) |
critical splice donor site |
probably null |
|
R4740:Dpp9
|
UTSW |
17 |
56,505,970 (GRCm39) |
critical splice donor site |
probably null |
|
R4741:Dpp9
|
UTSW |
17 |
56,512,286 (GRCm39) |
missense |
probably benign |
|
R4798:Dpp9
|
UTSW |
17 |
56,498,016 (GRCm39) |
missense |
probably damaging |
0.96 |
R4806:Dpp9
|
UTSW |
17 |
56,497,030 (GRCm39) |
missense |
probably damaging |
1.00 |
R5375:Dpp9
|
UTSW |
17 |
56,496,424 (GRCm39) |
nonsense |
probably null |
|
R5709:Dpp9
|
UTSW |
17 |
56,496,393 (GRCm39) |
missense |
probably benign |
|
R5783:Dpp9
|
UTSW |
17 |
56,518,655 (GRCm39) |
missense |
probably damaging |
0.98 |
R6454:Dpp9
|
UTSW |
17 |
56,513,808 (GRCm39) |
missense |
probably damaging |
1.00 |
R6532:Dpp9
|
UTSW |
17 |
56,512,854 (GRCm39) |
missense |
possibly damaging |
0.75 |
R6894:Dpp9
|
UTSW |
17 |
56,495,321 (GRCm39) |
missense |
probably damaging |
1.00 |
R7398:Dpp9
|
UTSW |
17 |
56,496,405 (GRCm39) |
nonsense |
probably null |
|
R7494:Dpp9
|
UTSW |
17 |
56,507,619 (GRCm39) |
missense |
probably damaging |
1.00 |
R7495:Dpp9
|
UTSW |
17 |
56,502,044 (GRCm39) |
missense |
probably benign |
|
R7511:Dpp9
|
UTSW |
17 |
56,512,611 (GRCm39) |
missense |
possibly damaging |
0.52 |
R7556:Dpp9
|
UTSW |
17 |
56,497,012 (GRCm39) |
missense |
possibly damaging |
0.66 |
R8228:Dpp9
|
UTSW |
17 |
56,498,129 (GRCm39) |
missense |
probably damaging |
1.00 |
R8481:Dpp9
|
UTSW |
17 |
56,501,467 (GRCm39) |
missense |
possibly damaging |
0.75 |
R8724:Dpp9
|
UTSW |
17 |
56,512,867 (GRCm39) |
missense |
probably benign |
0.03 |
R8798:Dpp9
|
UTSW |
17 |
56,506,037 (GRCm39) |
missense |
probably damaging |
1.00 |
R9209:Dpp9
|
UTSW |
17 |
56,512,765 (GRCm39) |
missense |
probably damaging |
1.00 |
R9660:Dpp9
|
UTSW |
17 |
56,494,458 (GRCm39) |
missense |
probably damaging |
1.00 |
R9666:Dpp9
|
UTSW |
17 |
56,501,946 (GRCm39) |
missense |
probably damaging |
0.99 |
X0065:Dpp9
|
UTSW |
17 |
56,502,006 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
Predicted Primers |
PCR Primer
(F):5'- TGCTCAGAGGCACTGTCACAAC -3'
(R):5'- GATGCCTGTCCATTGAGGACGAAG -3'
Sequencing Primer
(F):5'- ACCATTACCCCAGGGTGC -3'
(R):5'- AGGTTCGTCACCTGCAAAG -3'
|
Posted On |
2013-05-09 |