Incidental Mutation 'IGL01375:Prepl'
ID |
78695 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Prepl
|
Ensembl Gene |
ENSMUSG00000024127 |
Gene Name |
prolyl endopeptidase-like |
Synonyms |
9530014L06Rik, D030028O16Rik, 2810457N15Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.190)
|
Stock # |
IGL01375
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
85370898-85397669 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 85379419 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Aspartic acid
at position 336
(G336D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000072239
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072406]
[ENSMUST00000171795]
|
AlphaFold |
Q8C167 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000072406
AA Change: G336D
PolyPhen 2
Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000072239 Gene: ENSMUSG00000024127 AA Change: G336D
Domain | Start | End | E-Value | Type |
Pfam:Peptidase_S9_N
|
15 |
339 |
7.4e-28 |
PFAM |
Pfam:Peptidase_S9
|
399 |
623 |
1.3e-35 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000171795
AA Change: G423D
PolyPhen 2
Score 0.911 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000130967 Gene: ENSMUSG00000024127 AA Change: G423D
Domain | Start | End | E-Value | Type |
Pfam:Peptidase_S9_N
|
86 |
428 |
5.2e-30 |
PFAM |
Pfam:Peptidase_S9
|
486 |
710 |
2e-35 |
PFAM |
|
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 belongs to the prolyl oligopeptidase subfamily of serine peptidases. Mutations in this gene have been associated with hypotonia-cystinuria syndrome, also known as the 2p21 deletion syndrome. Several alternatively spliced transcript variants encoding either the same or different isoforms have been described for this gene.[provided by RefSeq, Jan 2010] PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired growth and neonatal hypotonia. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Anxa2 |
C |
T |
9: 69,390,301 (GRCm39) |
R68* |
probably null |
Het |
Apc |
C |
T |
18: 34,446,707 (GRCm39) |
S1167L |
probably damaging |
Het |
Aqp2 |
A |
G |
15: 99,479,983 (GRCm39) |
T149A |
possibly damaging |
Het |
Asb8 |
T |
C |
15: 98,039,190 (GRCm39) |
E70G |
probably damaging |
Het |
Carmil1 |
T |
C |
13: 24,278,454 (GRCm39) |
I172V |
possibly damaging |
Het |
Cd38 |
A |
G |
5: 44,060,939 (GRCm39) |
M172V |
probably benign |
Het |
Dync2i1 |
G |
T |
12: 116,193,296 (GRCm39) |
A552E |
possibly damaging |
Het |
Dyrk2 |
A |
G |
10: 118,696,592 (GRCm39) |
V222A |
probably damaging |
Het |
Ephb6 |
T |
A |
6: 41,592,845 (GRCm39) |
|
probably benign |
Het |
Fbxo15 |
T |
C |
18: 84,976,404 (GRCm39) |
S48P |
possibly damaging |
Het |
Gsdma3 |
T |
C |
11: 98,520,767 (GRCm39) |
|
probably null |
Het |
H2bl1 |
A |
G |
13: 99,120,650 (GRCm39) |
|
probably benign |
Het |
Htr1d |
A |
G |
4: 136,170,484 (GRCm39) |
T238A |
probably benign |
Het |
Kcnh3 |
G |
A |
15: 99,124,874 (GRCm39) |
W108* |
probably null |
Het |
Kdsr |
A |
T |
1: 106,655,424 (GRCm39) |
Y272N |
probably benign |
Het |
Lrp2 |
A |
G |
2: 69,308,910 (GRCm39) |
|
probably benign |
Het |
Nup210l |
G |
A |
3: 90,067,200 (GRCm39) |
V747M |
probably damaging |
Het |
Or10g3 |
A |
G |
14: 52,609,865 (GRCm39) |
I215T |
probably damaging |
Het |
Or4a67 |
A |
G |
2: 88,597,810 (GRCm39) |
V283A |
probably benign |
Het |
Pfn3 |
T |
A |
13: 55,562,641 (GRCm39) |
R113S |
possibly damaging |
Het |
Pik3r4 |
T |
C |
9: 105,521,803 (GRCm39) |
I123T |
possibly damaging |
Het |
Plec |
A |
T |
15: 76,060,640 (GRCm39) |
I3121N |
probably damaging |
Het |
Prpf8 |
C |
A |
11: 75,385,121 (GRCm39) |
A794D |
possibly damaging |
Het |
Prps1l1 |
A |
G |
12: 35,035,631 (GRCm39) |
T249A |
possibly damaging |
Het |
Rptor |
T |
A |
11: 119,787,262 (GRCm39) |
F1276I |
possibly damaging |
Het |
Serpina3f |
G |
A |
12: 104,186,735 (GRCm39) |
V434I |
unknown |
Het |
Slc25a12 |
T |
C |
2: 71,138,394 (GRCm39) |
|
probably benign |
Het |
Slc4a4 |
T |
C |
5: 89,327,593 (GRCm39) |
C642R |
probably damaging |
Het |
Slit2 |
C |
T |
5: 48,439,056 (GRCm39) |
|
probably benign |
Het |
Tasor |
A |
G |
14: 27,162,120 (GRCm39) |
R159G |
probably damaging |
Het |
Tgfbr3 |
A |
G |
5: 107,284,837 (GRCm39) |
V604A |
probably benign |
Het |
Tnfrsf1b |
T |
C |
4: 144,951,986 (GRCm39) |
Y126C |
probably damaging |
Het |
Traf4 |
T |
C |
11: 78,050,908 (GRCm39) |
N416S |
probably benign |
Het |
Trappc10 |
A |
G |
10: 78,024,733 (GRCm39) |
I1132T |
possibly damaging |
Het |
Vps8 |
T |
A |
16: 21,378,122 (GRCm39) |
Y642* |
probably null |
Het |
|
Other mutations in Prepl |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00708:Prepl
|
APN |
17 |
85,385,935 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01618:Prepl
|
APN |
17 |
85,373,709 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01633:Prepl
|
APN |
17 |
85,379,444 (GRCm39) |
missense |
probably benign |
0.03 |
IGL01730:Prepl
|
APN |
17 |
85,388,603 (GRCm39) |
missense |
possibly damaging |
0.82 |
IGL02728:Prepl
|
APN |
17 |
85,378,010 (GRCm39) |
missense |
probably damaging |
1.00 |
R0126:Prepl
|
UTSW |
17 |
85,390,670 (GRCm39) |
missense |
probably benign |
0.19 |
R0243:Prepl
|
UTSW |
17 |
85,372,466 (GRCm39) |
splice site |
probably null |
|
R1071:Prepl
|
UTSW |
17 |
85,377,940 (GRCm39) |
missense |
probably damaging |
1.00 |
R1437:Prepl
|
UTSW |
17 |
85,395,785 (GRCm39) |
missense |
probably damaging |
1.00 |
R1638:Prepl
|
UTSW |
17 |
85,379,509 (GRCm39) |
missense |
probably benign |
0.04 |
R1892:Prepl
|
UTSW |
17 |
85,395,878 (GRCm39) |
missense |
possibly damaging |
0.82 |
R1967:Prepl
|
UTSW |
17 |
85,395,979 (GRCm39) |
start codon destroyed |
probably null |
0.99 |
R4196:Prepl
|
UTSW |
17 |
85,388,582 (GRCm39) |
missense |
probably benign |
|
R4630:Prepl
|
UTSW |
17 |
85,390,659 (GRCm39) |
missense |
probably benign |
0.00 |
R4632:Prepl
|
UTSW |
17 |
85,390,659 (GRCm39) |
missense |
probably benign |
0.00 |
R4895:Prepl
|
UTSW |
17 |
85,388,494 (GRCm39) |
missense |
probably damaging |
1.00 |
R4932:Prepl
|
UTSW |
17 |
85,385,932 (GRCm39) |
missense |
possibly damaging |
0.66 |
R4969:Prepl
|
UTSW |
17 |
85,395,902 (GRCm39) |
missense |
probably benign |
0.00 |
R5954:Prepl
|
UTSW |
17 |
85,372,077 (GRCm39) |
missense |
probably benign |
0.04 |
R6259:Prepl
|
UTSW |
17 |
85,377,859 (GRCm39) |
missense |
probably damaging |
1.00 |
R6273:Prepl
|
UTSW |
17 |
85,390,696 (GRCm39) |
missense |
probably benign |
0.00 |
R7176:Prepl
|
UTSW |
17 |
85,376,454 (GRCm39) |
missense |
probably benign |
0.14 |
R7273:Prepl
|
UTSW |
17 |
85,389,420 (GRCm39) |
missense |
probably benign |
0.10 |
R7291:Prepl
|
UTSW |
17 |
85,388,668 (GRCm39) |
missense |
probably benign |
0.26 |
R8229:Prepl
|
UTSW |
17 |
85,388,689 (GRCm39) |
missense |
probably benign |
0.00 |
R8940:Prepl
|
UTSW |
17 |
85,376,354 (GRCm39) |
missense |
probably damaging |
0.98 |
R9017:Prepl
|
UTSW |
17 |
85,376,366 (GRCm39) |
missense |
possibly damaging |
0.61 |
R9158:Prepl
|
UTSW |
17 |
85,383,379 (GRCm39) |
missense |
possibly damaging |
0.82 |
R9608:Prepl
|
UTSW |
17 |
85,376,321 (GRCm39) |
missense |
probably benign |
0.02 |
Z1177:Prepl
|
UTSW |
17 |
85,388,511 (GRCm39) |
missense |
probably benign |
0.01 |
|
Posted On |
2013-11-05 |