Incidental Mutation 'R4741:Dpp9'
| ID |
358107 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dpp9
|
| Ensembl Gene |
ENSMUSG00000001229 |
| Gene Name |
dipeptidylpeptidase 9 |
| Synonyms |
DPRP2, 6430584G11Rik |
| MMRRC Submission |
042026-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4741 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
56493807-56525905 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 56512286 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 234
(N234S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000046604
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038794]
|
| AlphaFold |
Q8BVG4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000038794
AA Change: N234S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000046604
Gene: ENSMUSG00000001229
AA Change: N234S
| 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: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.1%
|
| Validation Efficiency |
|
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Angptl2 |
T |
C |
2: 33,136,200 (GRCm39) |
Y462H |
probably benign |
Het |
| Arhgef12 |
A |
G |
9: 42,883,449 (GRCm39) |
I1360T |
possibly damaging |
Het |
| Armc10 |
T |
G |
5: 21,856,834 (GRCm39) |
L111R |
probably damaging |
Het |
| Atm |
T |
C |
9: 53,364,907 (GRCm39) |
K2628E |
probably benign |
Het |
| Best3 |
A |
T |
10: 116,859,901 (GRCm39) |
N387I |
probably benign |
Het |
| Bltp1 |
A |
G |
3: 36,996,524 (GRCm39) |
T1079A |
probably damaging |
Het |
| Brpf3 |
T |
C |
17: 29,036,758 (GRCm39) |
F721S |
possibly damaging |
Het |
| Cacna1c |
A |
G |
6: 118,590,271 (GRCm39) |
S1411P |
probably damaging |
Het |
| Cldn8 |
G |
A |
16: 88,359,296 (GRCm39) |
H210Y |
probably benign |
Het |
| Clip2 |
T |
A |
5: 134,545,123 (GRCm39) |
T344S |
probably benign |
Het |
| Csmd1 |
A |
C |
8: 15,960,447 (GRCm39) |
W3323G |
probably damaging |
Het |
| Doc2a |
A |
T |
7: 126,450,617 (GRCm39) |
T298S |
possibly damaging |
Het |
| Dtx2 |
C |
T |
5: 136,055,371 (GRCm39) |
R353C |
probably benign |
Het |
| Epm2aip1 |
A |
G |
9: 111,101,681 (GRCm39) |
H218R |
probably benign |
Het |
| F2rl1 |
G |
A |
13: 95,650,651 (GRCm39) |
T77M |
probably damaging |
Het |
| Fsd2 |
A |
G |
7: 81,201,643 (GRCm39) |
|
probably null |
Het |
| Grin2a |
T |
C |
16: 9,481,376 (GRCm39) |
Y475C |
probably damaging |
Het |
| H2-Ob |
T |
A |
17: 34,461,545 (GRCm39) |
S95T |
possibly damaging |
Het |
| Hddc3 |
A |
G |
7: 79,995,464 (GRCm39) |
T160A |
probably benign |
Het |
| Hp |
A |
T |
8: 110,302,104 (GRCm39) |
C281* |
probably null |
Het |
| Ighg1 |
T |
C |
12: 113,290,178 (GRCm39) |
|
probably benign |
Het |
| Ints7 |
A |
G |
1: 191,351,747 (GRCm39) |
I819V |
probably benign |
Het |
| Jam2 |
G |
A |
16: 84,609,840 (GRCm39) |
V151M |
probably damaging |
Het |
| Jmjd1c |
A |
G |
10: 67,060,718 (GRCm39) |
I737V |
possibly damaging |
Het |
| Krt74 |
C |
T |
15: 101,669,876 (GRCm39) |
|
noncoding transcript |
Het |
| Lnpep |
T |
C |
17: 17,791,920 (GRCm39) |
Y407C |
probably damaging |
Het |
| Lrp4 |
T |
G |
2: 91,341,912 (GRCm39) |
C1842G |
probably damaging |
Het |
| Mug2 |
T |
A |
6: 122,056,572 (GRCm39) |
N1172K |
probably benign |
Het |
| Npy6r |
A |
T |
18: 44,408,791 (GRCm39) |
T71S |
probably damaging |
Het |
| Nsd3 |
A |
T |
8: 26,163,382 (GRCm39) |
I591F |
probably damaging |
Het |
| Oog2 |
A |
C |
4: 143,921,715 (GRCm39) |
E208D |
possibly damaging |
Het |
| Otogl |
A |
G |
10: 107,615,121 (GRCm39) |
I1928T |
probably benign |
Het |
| Papss1 |
T |
C |
3: 131,324,860 (GRCm39) |
L418P |
probably damaging |
Het |
| Pcdhb13 |
T |
A |
18: 37,576,571 (GRCm39) |
D316E |
probably benign |
Het |
| Pcdhgb2 |
T |
A |
18: 37,824,737 (GRCm39) |
|
probably null |
Het |
| Ptcd3 |
T |
A |
6: 71,879,933 (GRCm39) |
L108F |
probably damaging |
Het |
| Ralgps1 |
T |
C |
2: 33,226,599 (GRCm39) |
S31G |
probably benign |
Het |
| Rnf225 |
A |
T |
7: 12,661,857 (GRCm39) |
H12L |
probably benign |
Het |
| Ryr3 |
T |
A |
2: 112,633,613 (GRCm39) |
M2047L |
probably damaging |
Het |
| Secisbp2l |
C |
T |
2: 125,582,657 (GRCm39) |
G933D |
possibly damaging |
Het |
| Serpinb3b |
G |
T |
1: 107,082,200 (GRCm39) |
Q355K |
probably benign |
Het |
| Slc8a2 |
T |
A |
7: 15,868,233 (GRCm39) |
F155Y |
probably damaging |
Het |
| Taf1c |
A |
G |
8: 120,330,134 (GRCm39) |
|
probably benign |
Het |
| Tln2 |
A |
G |
9: 67,293,837 (GRCm39) |
|
probably null |
Het |
| Tmpo |
A |
G |
10: 90,998,506 (GRCm39) |
V427A |
probably benign |
Het |
| Vmn1r17 |
A |
T |
6: 57,338,337 (GRCm39) |
Y9* |
probably null |
Het |
| Vmn2r63 |
C |
T |
7: 42,577,544 (GRCm39) |
M331I |
probably benign |
Het |
| Zdhhc1 |
CGGGGG |
CGGGGGG |
8: 106,210,376 (GRCm39) |
|
probably null |
Het |
| Zfand5 |
C |
T |
19: 21,253,845 (GRCm39) |
T16I |
probably damaging |
Het |
| Zfp352 |
A |
T |
4: 90,113,177 (GRCm39) |
K439M |
possibly damaging |
Het |
| Zfp786 |
G |
A |
6: 47,797,625 (GRCm39) |
H438Y |
probably damaging |
Het |
| Zfp808 |
T |
A |
13: 62,319,763 (GRCm39) |
C331S |
probably damaging |
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 |
|
R0418:Dpp9
|
UTSW |
17 |
56,501,404 (GRCm39) |
splice site |
probably benign |
|
|
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 |
|
|
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'- AGAGCACATGGACTAATTCAGG -3'
(R):5'- TGATCTGTGGGTGGCAAAC -3'
Sequencing Primer
(F):5'- ACTAATTCAGGGGAGGTGTTGAGTC -3'
(R):5'- ACCTTCTGTCACCAGGGTG -3'
|
| Posted On |
2015-11-11 |
Incidental Mutation