Incidental Mutation 'IGL00708:Prepl'
| ID |
13156 |
| 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: 0.200)
|
| Stock # |
IGL00708
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
85370898-85397669 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 85385935 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 243
(Y243C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130967
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072406]
[ENSMUST00000171795]
|
| AlphaFold |
Q8C167 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000072406
AA Change: Y156C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000072239
Gene: ENSMUSG00000024127
AA Change: Y156C
| 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 |
probably damaging
Transcript: ENSMUST00000171795
AA Change: Y243C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000130967
Gene: ENSMUSG00000024127
AA Change: Y243C
| 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: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts17 |
A |
G |
7: 66,618,650 (GRCm39) |
E388G |
probably damaging |
Het |
| Arid4a |
T |
C |
12: 71,119,502 (GRCm39) |
S374P |
probably benign |
Het |
| Ccdc186 |
A |
T |
19: 56,801,879 (GRCm39) |
S79R |
probably benign |
Het |
| Cela3b |
C |
A |
4: 137,149,280 (GRCm39) |
L241F |
probably benign |
Het |
| Dsg4 |
T |
A |
18: 20,594,383 (GRCm39) |
V504D |
probably benign |
Het |
| Fhip1b |
C |
T |
7: 105,037,467 (GRCm39) |
R372Q |
probably damaging |
Het |
| Meis2 |
C |
T |
2: 115,694,725 (GRCm39) |
D473N |
probably benign |
Het |
| Mri1 |
A |
T |
8: 84,978,277 (GRCm39) |
I338N |
probably damaging |
Het |
| Mroh8 |
A |
G |
2: 157,062,090 (GRCm39) |
S868P |
probably damaging |
Het |
| Mtus1 |
G |
A |
8: 41,537,386 (GRCm39) |
T110I |
probably damaging |
Het |
| Mug2 |
A |
G |
6: 122,024,446 (GRCm39) |
E506G |
possibly damaging |
Het |
| Napsa |
A |
G |
7: 44,230,845 (GRCm39) |
T71A |
probably benign |
Het |
| Prkdc |
A |
G |
16: 15,597,290 (GRCm39) |
I2817V |
probably damaging |
Het |
| Rbm26 |
C |
T |
14: 105,397,396 (GRCm39) |
V69I |
unknown |
Het |
| Tcerg1 |
T |
A |
18: 42,704,190 (GRCm39) |
N949K |
probably benign |
Het |
| Tgfbr1 |
C |
T |
4: 47,383,992 (GRCm39) |
T45I |
probably benign |
Het |
| Trim37 |
T |
A |
11: 87,077,219 (GRCm39) |
D516E |
probably damaging |
Het |
| Wdr7 |
C |
T |
18: 63,911,104 (GRCm39) |
T832M |
probably benign |
Het |
| Zfp280d |
T |
C |
9: 72,219,417 (GRCm39) |
V198A |
probably benign |
Het |
|
| Other mutations in Prepl |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01375:Prepl
|
APN |
17 |
85,379,419 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
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 |
2012-12-06 |
Incidental Mutation