Incidental Mutation 'IGL02992:Dpp7'
ID |
406987 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Dpp7
|
Ensembl Gene |
ENSMUSG00000026958 |
Gene Name |
dipeptidylpeptidase 7 |
Synonyms |
QPP |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.090)
|
Stock # |
IGL02992
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
25242302-25246365 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 25244589 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 264
(D264G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000028332
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028332]
[ENSMUST00000042390]
|
AlphaFold |
Q9ET22 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000028332
AA Change: D264G
PolyPhen 2
Score 0.648 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000028332 Gene: ENSMUSG00000026958 AA Change: D264G
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125248
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131665
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133253
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135473
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139108
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139971
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150305
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149953
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144218
|
Coding Region Coverage |
|
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: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca4 |
A |
G |
3: 121,921,935 (GRCm39) |
K1164E |
probably damaging |
Het |
Arhgap42 |
G |
A |
9: 8,998,249 (GRCm39) |
|
probably benign |
Het |
Arhgef12 |
T |
C |
9: 42,910,373 (GRCm39) |
D612G |
probably damaging |
Het |
Cpne3 |
T |
C |
4: 19,532,486 (GRCm39) |
D309G |
probably benign |
Het |
Daw1 |
T |
C |
1: 83,174,934 (GRCm39) |
|
probably benign |
Het |
Daxx |
T |
A |
17: 34,130,722 (GRCm39) |
C246S |
probably damaging |
Het |
Dync2h1 |
T |
A |
9: 7,137,074 (GRCm39) |
H1472L |
probably benign |
Het |
Fastkd2 |
T |
C |
1: 63,777,083 (GRCm39) |
|
probably benign |
Het |
Fcrl2 |
T |
G |
3: 87,166,773 (GRCm39) |
R73S |
probably damaging |
Het |
Gatb |
A |
G |
3: 85,526,223 (GRCm39) |
D367G |
probably damaging |
Het |
Gm20547 |
T |
A |
17: 35,076,095 (GRCm39) |
E654V |
probably damaging |
Het |
Gm839 |
T |
A |
6: 89,189,509 (GRCm39) |
|
noncoding transcript |
Het |
Gtf2ird2 |
A |
T |
5: 134,246,456 (GRCm39) |
M905L |
possibly damaging |
Het |
Hoxb2 |
A |
T |
11: 96,243,910 (GRCm39) |
I174F |
probably damaging |
Het |
Hrh3 |
A |
G |
2: 179,742,608 (GRCm39) |
V308A |
probably benign |
Het |
Ints9 |
A |
G |
14: 65,217,613 (GRCm39) |
K47E |
probably benign |
Het |
Irak3 |
A |
T |
10: 120,018,566 (GRCm39) |
Y61N |
probably damaging |
Het |
Itpr1 |
A |
G |
6: 108,358,276 (GRCm39) |
E614G |
probably damaging |
Het |
Lgals3 |
A |
T |
14: 47,622,982 (GRCm39) |
I214L |
probably benign |
Het |
Msh4 |
G |
T |
3: 153,577,962 (GRCm39) |
T444K |
possibly damaging |
Het |
Myh7b |
C |
A |
2: 155,463,330 (GRCm39) |
Q521K |
probably damaging |
Het |
Naip5 |
T |
A |
13: 100,359,536 (GRCm39) |
I567F |
probably damaging |
Het |
Nf1 |
A |
G |
11: 79,325,759 (GRCm39) |
|
probably benign |
Het |
Nlrc3 |
C |
T |
16: 3,771,887 (GRCm39) |
|
probably benign |
Het |
Nlrc5 |
A |
C |
8: 95,233,201 (GRCm39) |
E1353A |
possibly damaging |
Het |
Nr1h3 |
T |
A |
2: 91,020,911 (GRCm39) |
I260F |
probably damaging |
Het |
Pcnx1 |
G |
A |
12: 82,010,894 (GRCm39) |
R1211Q |
probably damaging |
Het |
Pde10a |
A |
G |
17: 9,168,293 (GRCm39) |
K605E |
probably damaging |
Het |
Pdzd2 |
T |
C |
15: 12,382,708 (GRCm39) |
E1215G |
possibly damaging |
Het |
Pex12 |
A |
G |
11: 83,188,753 (GRCm39) |
S81P |
probably damaging |
Het |
Pik3c2b |
C |
A |
1: 132,994,718 (GRCm39) |
Y227* |
probably null |
Het |
Ppef2 |
C |
T |
5: 92,383,759 (GRCm39) |
W450* |
probably null |
Het |
Prkg2 |
T |
G |
5: 99,172,365 (GRCm39) |
S117R |
probably benign |
Het |
Prl3d2 |
A |
T |
13: 27,311,266 (GRCm39) |
E179D |
probably benign |
Het |
Relch |
T |
A |
1: 105,647,189 (GRCm39) |
L684M |
possibly damaging |
Het |
Rxfp2 |
T |
C |
5: 149,975,021 (GRCm39) |
V210A |
probably benign |
Het |
Scn10a |
T |
C |
9: 119,438,626 (GRCm39) |
T1748A |
possibly damaging |
Het |
Septin10 |
T |
C |
10: 59,028,000 (GRCm39) |
N107S |
possibly damaging |
Het |
Smu1 |
T |
A |
4: 40,739,550 (GRCm39) |
N420I |
probably damaging |
Het |
Sos1 |
A |
G |
17: 80,726,445 (GRCm39) |
F835L |
probably benign |
Het |
Spg11 |
T |
C |
2: 121,888,879 (GRCm39) |
D2164G |
probably damaging |
Het |
Svbp |
A |
G |
4: 119,053,127 (GRCm39) |
E8G |
probably damaging |
Het |
Tgm3 |
T |
A |
2: 129,883,899 (GRCm39) |
M519K |
probably damaging |
Het |
Tspan12 |
A |
G |
6: 21,799,876 (GRCm39) |
|
probably null |
Het |
Vps52 |
T |
C |
17: 34,177,324 (GRCm39) |
V122A |
probably damaging |
Het |
Wipf1 |
T |
C |
2: 73,264,427 (GRCm39) |
Y458C |
probably damaging |
Het |
Zfp369 |
T |
A |
13: 65,442,265 (GRCm39) |
D286E |
possibly damaging |
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 |
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 |
|
R8459:Dpp7
|
UTSW |
2 |
25,242,550 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
|
Posted On |
2016-08-02 |