Incidental Mutation 'R8067:Dpp10'
| ID |
620040 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dpp10
|
| Ensembl Gene |
ENSMUSG00000036815 |
| Gene Name |
dipeptidylpeptidase 10 |
| Synonyms |
6430601K09Rik, DPRP3 |
| MMRRC Submission |
067502-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8067 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
123259871-124773774 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 123280389 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 646
(S646P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108225
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000112603]
[ENSMUST00000112606]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112603
AA Change: S635P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000108222
Gene: ENSMUSG00000036815
AA Change: S635P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
10 |
25 |
N/A |
INTRINSIC |
|
Pfam:DPPIV_N
|
83 |
450 |
4.9e-118 |
PFAM |
|
Pfam:Peptidase_S9
|
530 |
734 |
6.4e-47 |
PFAM |
|
Pfam:DLH
|
556 |
711 |
1.4e-6 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112606
AA Change: S646P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000108225
Gene: ENSMUSG00000036815
AA Change: S646P
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
38 |
60 |
N/A |
INTRINSIC |
|
low complexity region
|
64 |
79 |
N/A |
INTRINSIC |
|
Pfam:DPPIV_N
|
137 |
504 |
4.4e-115 |
PFAM |
|
Pfam:Peptidase_S9
|
584 |
788 |
8.6e-48 |
PFAM |
|
Pfam:DLH
|
604 |
774 |
1.1e-7 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
100% (45/45) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a single-pass type II membrane protein that is a member of the S9B family in clan SC of the serine proteases. This protein has no detectable protease activity, most likely due to the absence of the conserved serine residue normally present in the catalytic domain of serine proteases. However, it does bind specific voltage-gated potassium channels and alters their expression and biophysical properties. Mutations in this gene have been associated with asthma. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700029H14Rik |
A |
T |
8: 13,608,643 (GRCm39) |
D145E |
possibly damaging |
Het |
| Adcy7 |
T |
C |
8: 89,037,697 (GRCm39) |
L255P |
probably damaging |
Het |
| Cbx7 |
A |
T |
15: 79,818,099 (GRCm39) |
V1D |
unknown |
Het |
| Cd209c |
A |
C |
8: 3,995,700 (GRCm39) |
M34R |
probably benign |
Het |
| Chodl |
A |
T |
16: 78,743,601 (GRCm39) |
L229F |
probably damaging |
Het |
| Depdc5 |
C |
A |
5: 33,053,252 (GRCm39) |
N197K |
possibly damaging |
Het |
| Dnai1 |
T |
A |
4: 41,614,258 (GRCm39) |
D311E |
probably damaging |
Het |
| Dop1a |
A |
G |
9: 86,400,392 (GRCm39) |
Y1017C |
probably benign |
Het |
| Dop1b |
T |
A |
16: 93,562,336 (GRCm39) |
L927* |
probably null |
Het |
| Ebf1 |
G |
A |
11: 44,511,374 (GRCm39) |
V90M |
probably benign |
Het |
| Efhd1 |
C |
T |
1: 87,192,313 (GRCm39) |
P48S |
probably benign |
Het |
| Fam83b |
T |
C |
9: 76,398,380 (GRCm39) |
T908A |
probably benign |
Het |
| Fbxl16 |
G |
A |
17: 26,036,957 (GRCm39) |
V313I |
probably damaging |
Het |
| Git2 |
C |
T |
5: 114,904,579 (GRCm39) |
M113I |
probably damaging |
Het |
| Gpr87 |
T |
A |
3: 59,087,308 (GRCm39) |
I66F |
probably damaging |
Het |
| H60c |
A |
C |
10: 3,209,338 (GRCm39) |
L217V |
unknown |
Het |
| Iba57 |
T |
C |
11: 59,054,086 (GRCm39) |
|
probably benign |
Het |
| Igkv11-125 |
C |
A |
6: 67,890,814 (GRCm39) |
T44N |
probably benign |
Het |
| Itih2 |
T |
A |
2: 10,128,294 (GRCm39) |
I136F |
probably damaging |
Het |
| Itpr3 |
T |
A |
17: 27,329,836 (GRCm39) |
D1543E |
probably benign |
Het |
| Myl10 |
G |
C |
5: 136,726,825 (GRCm39) |
V70L |
probably benign |
Het |
| Mylk |
A |
T |
16: 34,792,389 (GRCm39) |
E1570V |
probably benign |
Het |
| N4bp2 |
T |
A |
5: 65,964,639 (GRCm39) |
L896H |
probably damaging |
Het |
| Ndc1 |
T |
A |
4: 107,247,595 (GRCm39) |
S468T |
probably benign |
Het |
| Ndst3 |
T |
C |
3: 123,395,094 (GRCm39) |
N512S |
probably damaging |
Het |
| Or51b6 |
A |
G |
7: 103,555,610 (GRCm39) |
|
probably benign |
Het |
| Or5w15 |
T |
A |
2: 87,568,147 (GRCm39) |
I174F |
probably damaging |
Het |
| Plekhn1 |
T |
C |
4: 156,312,697 (GRCm39) |
I54V |
possibly damaging |
Het |
| Polr3c |
T |
C |
3: 96,622,968 (GRCm39) |
E350G |
probably null |
Het |
| Prpf8 |
T |
C |
11: 75,390,976 (GRCm39) |
W1342R |
probably damaging |
Het |
| Pum1 |
T |
C |
4: 130,478,836 (GRCm39) |
V486A |
possibly damaging |
Het |
| Rin2 |
T |
G |
2: 145,702,977 (GRCm39) |
S558A |
probably damaging |
Het |
| Ripk4 |
A |
T |
16: 97,564,737 (GRCm39) |
V58D |
probably damaging |
Het |
| Smyd3 |
A |
G |
1: 179,238,028 (GRCm39) |
M113T |
possibly damaging |
Het |
| Spock1 |
A |
T |
13: 57,843,984 (GRCm39) |
|
probably null |
Het |
| Srgap3 |
C |
T |
6: 112,716,325 (GRCm39) |
R625H |
probably benign |
Het |
| Tasor2 |
C |
T |
13: 3,619,602 (GRCm39) |
V2210I |
probably benign |
Het |
| Tmed2 |
T |
C |
5: 124,684,986 (GRCm39) |
I134T |
possibly damaging |
Het |
| Washc2 |
T |
A |
6: 116,201,464 (GRCm39) |
S353R |
probably damaging |
Het |
| Xdh |
T |
A |
17: 74,207,652 (GRCm39) |
R902W |
probably benign |
Het |
| Zbtb5 |
A |
T |
4: 44,994,972 (GRCm39) |
S137R |
probably benign |
Het |
| Zfp286 |
A |
T |
11: 62,644,345 (GRCm39) |
I192K |
unknown |
Het |
| Zfp942 |
T |
C |
17: 22,149,391 (GRCm39) |
Y38C |
probably damaging |
Het |
| Zfpm1 |
T |
C |
8: 123,062,323 (GRCm39) |
S461P |
probably benign |
Het |
|
| Other mutations in Dpp10 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01592:Dpp10
|
APN |
1 |
123,262,099 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01618:Dpp10
|
APN |
1 |
123,295,596 (GRCm39) |
missense |
probably benign |
|
|
IGL02101:Dpp10
|
APN |
1 |
123,339,555 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02284:Dpp10
|
APN |
1 |
123,973,103 (GRCm39) |
splice site |
probably benign |
|
|
IGL02324:Dpp10
|
APN |
1 |
123,295,531 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02391:Dpp10
|
APN |
1 |
123,578,087 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02458:Dpp10
|
APN |
1 |
123,269,418 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02469:Dpp10
|
APN |
1 |
123,339,532 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02501:Dpp10
|
APN |
1 |
123,613,999 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL02522:Dpp10
|
APN |
1 |
123,351,381 (GRCm39) |
missense |
probably benign |
0.24 |
|
IGL02672:Dpp10
|
APN |
1 |
123,304,376 (GRCm39) |
missense |
probably benign |
0.45 |
|
IGL03034:Dpp10
|
APN |
1 |
123,269,348 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT1430001:Dpp10
|
UTSW |
1 |
123,268,911 (GRCm39) |
splice site |
probably benign |
|
|
R0104:Dpp10
|
UTSW |
1 |
123,295,572 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0114:Dpp10
|
UTSW |
1 |
123,413,821 (GRCm39) |
missense |
probably benign |
0.07 |
|
R0242:Dpp10
|
UTSW |
1 |
123,326,275 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R0242:Dpp10
|
UTSW |
1 |
123,326,275 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R0682:Dpp10
|
UTSW |
1 |
123,832,852 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0815:Dpp10
|
UTSW |
1 |
123,360,658 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1549:Dpp10
|
UTSW |
1 |
123,269,109 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1742:Dpp10
|
UTSW |
1 |
123,372,935 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1859:Dpp10
|
UTSW |
1 |
123,281,333 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R1991:Dpp10
|
UTSW |
1 |
123,832,833 (GRCm39) |
missense |
probably null |
1.00 |
|
R1992:Dpp10
|
UTSW |
1 |
123,832,833 (GRCm39) |
missense |
probably null |
1.00 |
|
R2079:Dpp10
|
UTSW |
1 |
123,360,721 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2882:Dpp10
|
UTSW |
1 |
123,372,932 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2974:Dpp10
|
UTSW |
1 |
123,339,434 (GRCm39) |
splice site |
probably benign |
|
|
R3827:Dpp10
|
UTSW |
1 |
123,339,519 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R3852:Dpp10
|
UTSW |
1 |
123,413,653 (GRCm39) |
nonsense |
probably null |
|
|
R3876:Dpp10
|
UTSW |
1 |
123,281,216 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3899:Dpp10
|
UTSW |
1 |
123,281,286 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4735:Dpp10
|
UTSW |
1 |
123,326,356 (GRCm39) |
missense |
probably benign |
0.15 |
|
R4922:Dpp10
|
UTSW |
1 |
123,305,882 (GRCm39) |
missense |
probably benign |
0.44 |
|
R5457:Dpp10
|
UTSW |
1 |
123,339,539 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R5599:Dpp10
|
UTSW |
1 |
123,832,803 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5913:Dpp10
|
UTSW |
1 |
123,312,018 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5979:Dpp10
|
UTSW |
1 |
123,312,012 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6378:Dpp10
|
UTSW |
1 |
123,339,468 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6429:Dpp10
|
UTSW |
1 |
123,295,330 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R6505:Dpp10
|
UTSW |
1 |
123,264,580 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6776:Dpp10
|
UTSW |
1 |
123,295,385 (GRCm39) |
nonsense |
probably null |
|
|
R6894:Dpp10
|
UTSW |
1 |
123,264,593 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6951:Dpp10
|
UTSW |
1 |
123,269,379 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7182:Dpp10
|
UTSW |
1 |
123,268,880 (GRCm39) |
missense |
probably benign |
0.15 |
|
R7246:Dpp10
|
UTSW |
1 |
123,262,106 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7297:Dpp10
|
UTSW |
1 |
123,281,157 (GRCm39) |
nonsense |
probably null |
|
|
R7375:Dpp10
|
UTSW |
1 |
123,295,524 (GRCm39) |
missense |
probably benign |
|
|
R7387:Dpp10
|
UTSW |
1 |
123,268,869 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7661:Dpp10
|
UTSW |
1 |
123,312,681 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8065:Dpp10
|
UTSW |
1 |
123,280,389 (GRCm39) |
missense |
probably benign |
|
|
R8260:Dpp10
|
UTSW |
1 |
123,614,024 (GRCm39) |
missense |
probably benign |
|
|
R8324:Dpp10
|
UTSW |
1 |
123,781,901 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8373:Dpp10
|
UTSW |
1 |
123,781,958 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8434:Dpp10
|
UTSW |
1 |
123,360,739 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9068:Dpp10
|
UTSW |
1 |
123,360,667 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9104:Dpp10
|
UTSW |
1 |
123,339,484 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9477:Dpp10
|
UTSW |
1 |
123,304,370 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R9492:Dpp10
|
UTSW |
1 |
123,281,159 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9524:Dpp10
|
UTSW |
1 |
123,264,611 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9576:Dpp10
|
UTSW |
1 |
123,269,409 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9631:Dpp10
|
UTSW |
1 |
123,269,432 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9736:Dpp10
|
UTSW |
1 |
123,262,088 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
X0019:Dpp10
|
UTSW |
1 |
123,326,314 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
X0020:Dpp10
|
UTSW |
1 |
123,326,311 (GRCm39) |
missense |
probably benign |
0.36 |
|
X0021:Dpp10
|
UTSW |
1 |
123,360,721 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0024:Dpp10
|
UTSW |
1 |
123,312,015 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Dpp10
|
UTSW |
1 |
123,281,169 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CATGCTTGAGAAGTAACCTTCC -3'
(R):5'- TGTGTGTAAATGTGAGAAGCAATGC -3'
Sequencing Primer
(F):5'- ACCTTCCAAATAATTGACAGAATGG -3'
(R):5'- ACCATCAACTTTGGGGTCAG -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation