Incidental Mutation 'R8459:Dpp7'
| ID |
655162 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dpp7
|
| Ensembl Gene |
ENSMUSG00000026958 |
| Gene Name |
dipeptidylpeptidase 7 |
| Synonyms |
QPP |
| MMRRC Submission |
067836-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.082)
|
| Stock # |
R8459 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
25242302-25246365 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 25242550 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Phenylalanine
at position 468
(V468F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028332
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028332]
[ENSMUST00000042390]
|
| AlphaFold |
Q9ET22 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000028332
AA Change: V468F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000028332
Gene: ENSMUSG00000026958
AA Change: V468F
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
33 |
N/A |
INTRINSIC |
|
Pfam:Peptidase_S28
|
48 |
475 |
2.3e-90 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000042390
|
| SMART Domains |
Protein: ENSMUSP00000036996
Gene: ENSMUSG00000036646
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
11 |
N/A |
INTRINSIC |
|
low complexity region
|
29 |
42 |
N/A |
INTRINSIC |
|
transmembrane domain
|
49 |
71 |
N/A |
INTRINSIC |
|
Pfam:Glyco_hydro_47
|
215 |
654 |
9.5e-167 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
|
| 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 a post-proline cleaving aminopeptidase expressed in quiescent lymphocytes. The resting lymphocytes are maintained through suppression of apoptosis, a state which is disrupted by inhibition of this novel serine protease. The enzyme has strong sequence homology with prolylcarboxypeptidase and is active at both acidic and neutral pH. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
All alleles(4) : Targeted, knock-out(1) Targeted, other(2) Gene trapped(1)
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aim2 |
CTTGTTGT |
CTTGT |
1: 173,289,536 (GRCm39) |
|
probably benign |
Het |
| Ank1 |
T |
C |
8: 23,605,528 (GRCm39) |
V1132A |
probably damaging |
Het |
| Bpifb9a |
T |
G |
2: 154,102,153 (GRCm39) |
S83R |
probably damaging |
Het |
| Cacnb3 |
C |
T |
15: 98,537,393 (GRCm39) |
R24C |
probably damaging |
Het |
| Car8 |
C |
T |
4: 8,189,302 (GRCm39) |
V171I |
probably benign |
Het |
| Cd200l1 |
T |
A |
16: 45,238,271 (GRCm39) |
H294L |
probably benign |
Het |
| Cdk17 |
G |
C |
10: 93,068,289 (GRCm39) |
V349L |
probably damaging |
Het |
| Celsr3 |
A |
G |
9: 108,706,829 (GRCm39) |
E1104G |
probably damaging |
Het |
| Chml |
T |
C |
1: 175,515,597 (GRCm39) |
D108G |
probably benign |
Het |
| Cluap1 |
T |
C |
16: 3,755,453 (GRCm39) |
M356T |
probably damaging |
Het |
| Cmtm1 |
A |
G |
8: 105,036,143 (GRCm39) |
V162A |
possibly damaging |
Het |
| Cryge |
T |
C |
1: 65,087,841 (GRCm39) |
D156G |
possibly damaging |
Het |
| Disc1 |
A |
C |
8: 125,891,894 (GRCm39) |
D649A |
possibly damaging |
Het |
| Dnah8 |
T |
C |
17: 30,944,221 (GRCm39) |
|
probably null |
Het |
| Ecpas |
A |
G |
4: 58,821,379 (GRCm39) |
V1207A |
probably damaging |
Het |
| Ep400 |
A |
G |
5: 110,856,757 (GRCm39) |
F1163S |
unknown |
Het |
| Fbrs |
C |
T |
7: 127,082,329 (GRCm39) |
R327W |
probably damaging |
Het |
| Fsip2 |
T |
A |
2: 82,810,022 (GRCm39) |
Y2114N |
possibly damaging |
Het |
| Gnas |
A |
T |
2: 174,126,732 (GRCm39) |
H89L |
probably benign |
Het |
| Gstt1 |
G |
A |
10: 75,629,943 (GRCm39) |
R107W |
probably damaging |
Het |
| Hal |
A |
G |
10: 93,352,177 (GRCm39) |
D656G |
probably benign |
Het |
| Htra3 |
G |
A |
5: 35,828,569 (GRCm39) |
|
probably benign |
Het |
| Ighv1-64 |
G |
A |
12: 115,471,256 (GRCm39) |
A87V |
probably benign |
Het |
| Itga3 |
A |
G |
11: 94,959,633 (GRCm39) |
V80A |
probably benign |
Het |
| Lrrc58 |
A |
G |
16: 37,698,872 (GRCm39) |
N280D |
probably benign |
Het |
| Macf1 |
T |
C |
4: 123,374,107 (GRCm39) |
E1501G |
possibly damaging |
Het |
| Madd |
A |
G |
2: 90,992,871 (GRCm39) |
I1016T |
probably benign |
Het |
| Mbnl1 |
T |
G |
3: 60,529,628 (GRCm39) |
S260R |
probably damaging |
Het |
| Or5h17 |
A |
T |
16: 58,820,348 (GRCm39) |
Q100L |
probably damaging |
Het |
| Phip |
G |
T |
9: 82,758,106 (GRCm39) |
A1529D |
probably benign |
Het |
| Pramel58 |
A |
G |
5: 94,830,742 (GRCm39) |
D80G |
probably damaging |
Het |
| Prorsd1 |
T |
C |
11: 29,463,286 (GRCm39) |
T159A |
probably damaging |
Het |
| Sh3tc1 |
C |
A |
5: 35,878,933 (GRCm39) |
R67L |
probably benign |
Het |
| Skint5 |
A |
T |
4: 113,703,481 (GRCm39) |
L518* |
probably null |
Het |
| Slc26a11 |
T |
A |
11: 119,259,643 (GRCm39) |
I280N |
possibly damaging |
Het |
| Spata16 |
A |
G |
3: 26,721,676 (GRCm39) |
T66A |
probably benign |
Het |
| Syne1 |
G |
A |
10: 5,374,277 (GRCm39) |
R177* |
probably null |
Het |
| Vmn1r16 |
A |
C |
6: 57,300,347 (GRCm39) |
C92G |
probably benign |
Het |
| Vmn1r50 |
A |
G |
6: 90,084,235 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Dpp7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01637:Dpp7
|
APN |
2 |
25,244,625 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02897:Dpp7
|
APN |
2 |
25,243,684 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02992:Dpp7
|
APN |
2 |
25,244,589 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
IGL03069:Dpp7
|
APN |
2 |
25,245,735 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
1mM(1):Dpp7
|
UTSW |
2 |
25,246,152 (GRCm39) |
missense |
probably benign |
0.05 |
|
PIT4519001:Dpp7
|
UTSW |
2 |
25,242,460 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0051:Dpp7
|
UTSW |
2 |
25,246,107 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R0051:Dpp7
|
UTSW |
2 |
25,246,107 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R0900:Dpp7
|
UTSW |
2 |
25,246,311 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1889:Dpp7
|
UTSW |
2 |
25,243,691 (GRCm39) |
splice site |
probably null |
|
|
R1895:Dpp7
|
UTSW |
2 |
25,243,691 (GRCm39) |
splice site |
probably null |
|
|
R2055:Dpp7
|
UTSW |
2 |
25,244,490 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R4697:Dpp7
|
UTSW |
2 |
25,244,931 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4832:Dpp7
|
UTSW |
2 |
25,242,398 (GRCm39) |
unclassified |
probably benign |
|
|
R4887:Dpp7
|
UTSW |
2 |
25,242,770 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R5114:Dpp7
|
UTSW |
2 |
25,242,749 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R6976:Dpp7
|
UTSW |
2 |
25,244,836 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7577:Dpp7
|
UTSW |
2 |
25,245,603 (GRCm39) |
missense |
probably benign |
|
|
R8486:Dpp7
|
UTSW |
2 |
25,242,561 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8672:Dpp7
|
UTSW |
2 |
25,246,133 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8690:Dpp7
|
UTSW |
2 |
25,245,645 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0058:Dpp7
|
UTSW |
2 |
25,244,764 (GRCm39) |
missense |
probably benign |
0.05 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGGCAAGTTGTCACACCACTG -3'
(R):5'- TCCAGAGCAACCTGAGTACATC -3'
Sequencing Primer
(F):5'- AGTTGTCACACCACTGTAGATC -3'
(R):5'- GAGTACATCAGTCATTGCTGTCAC -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation