Incidental Mutation 'IGL01618:Prepl'
| ID |
92473 |
| 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 # |
IGL01618
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
85370898-85397669 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 85373709 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 586
(V586A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130967
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024944]
[ENSMUST00000072406]
[ENSMUST00000171795]
|
| AlphaFold |
Q8C167 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000024944
|
| SMART Domains |
Protein: ENSMUSP00000024944
Gene: ENSMUSG00000024131
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
87 |
109 |
N/A |
INTRINSIC |
|
Aamy
|
124 |
504 |
6.7e-110 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000072406
AA Change: V499A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000072239
Gene: ENSMUSG00000024127
AA Change: V499A
| 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: V586A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000130967
Gene: ENSMUSG00000024127
AA Change: V586A
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsl5 |
C |
T |
19: 55,261,265 (GRCm39) |
A74V |
probably benign |
Het |
| Adh4 |
C |
T |
3: 138,134,788 (GRCm39) |
|
probably benign |
Het |
| Aldh1a3 |
G |
A |
7: 66,058,978 (GRCm39) |
T239I |
probably damaging |
Het |
| Anxa9 |
A |
G |
3: 95,207,847 (GRCm39) |
|
probably null |
Het |
| Atp5me |
C |
A |
5: 108,581,899 (GRCm39) |
K28N |
probably damaging |
Het |
| C9 |
T |
G |
15: 6,489,149 (GRCm39) |
Y169D |
probably benign |
Het |
| Chat |
T |
A |
14: 32,168,849 (GRCm39) |
|
probably null |
Het |
| Csmd3 |
C |
T |
15: 47,874,479 (GRCm39) |
E706K |
probably benign |
Het |
| Ctbs |
A |
G |
3: 146,160,867 (GRCm39) |
K145E |
probably benign |
Het |
| Dennd5a |
A |
G |
7: 109,533,302 (GRCm39) |
M156T |
probably damaging |
Het |
| Dhx29 |
A |
G |
13: 113,101,756 (GRCm39) |
Y1275C |
probably damaging |
Het |
| Dpp10 |
A |
T |
1: 123,295,596 (GRCm39) |
F517Y |
probably benign |
Het |
| Dst |
G |
A |
1: 34,227,990 (GRCm39) |
W1536* |
probably null |
Het |
| Galc |
T |
C |
12: 98,218,340 (GRCm39) |
T171A |
possibly damaging |
Het |
| Gsap |
T |
C |
5: 21,431,246 (GRCm39) |
I190T |
probably damaging |
Het |
| Hars2 |
A |
T |
18: 36,922,630 (GRCm39) |
R388* |
probably null |
Het |
| Igsf21 |
C |
T |
4: 139,834,675 (GRCm39) |
G66S |
possibly damaging |
Het |
| Itgbl1 |
T |
A |
14: 124,065,211 (GRCm39) |
S122T |
possibly damaging |
Het |
| Jhy |
G |
T |
9: 40,872,260 (GRCm39) |
T83K |
possibly damaging |
Het |
| Kcne4 |
A |
T |
1: 78,795,525 (GRCm39) |
M58L |
possibly damaging |
Het |
| Lamc3 |
T |
A |
2: 31,802,119 (GRCm39) |
I509N |
probably damaging |
Het |
| Lpar6 |
T |
C |
14: 73,476,506 (GRCm39) |
S156P |
probably damaging |
Het |
| Man2c1 |
T |
C |
9: 57,048,840 (GRCm39) |
|
probably benign |
Het |
| Marchf11 |
T |
C |
15: 26,409,285 (GRCm39) |
I328T |
possibly damaging |
Het |
| Mc3r |
T |
A |
2: 172,091,290 (GRCm39) |
C171S |
probably benign |
Het |
| Muc4 |
A |
T |
16: 32,577,001 (GRCm39) |
Q2167L |
unknown |
Het |
| Myom1 |
T |
C |
17: 71,406,988 (GRCm39) |
V1135A |
possibly damaging |
Het |
| Nectin1 |
C |
T |
9: 43,702,555 (GRCm39) |
R101* |
probably null |
Het |
| Nxpe4 |
T |
C |
9: 48,305,440 (GRCm39) |
S277P |
possibly damaging |
Het |
| Or1e35 |
T |
C |
11: 73,798,303 (GRCm39) |
N5S |
probably damaging |
Het |
| Or2a52 |
T |
A |
6: 43,144,637 (GRCm39) |
V215E |
probably damaging |
Het |
| Or52r1c |
G |
A |
7: 102,735,582 (GRCm39) |
V281I |
probably benign |
Het |
| Or5b106 |
T |
A |
19: 13,123,614 (GRCm39) |
K136N |
probably benign |
Het |
| Or5w19 |
A |
C |
2: 87,698,488 (GRCm39) |
D51A |
probably damaging |
Het |
| Pappa2 |
G |
T |
1: 158,684,948 (GRCm39) |
N730K |
probably damaging |
Het |
| Prrc2a |
T |
C |
17: 35,368,529 (GRCm39) |
Y2098C |
probably damaging |
Het |
| Rdh16 |
G |
A |
10: 127,637,176 (GRCm39) |
C37Y |
probably damaging |
Het |
| Rnd1 |
A |
T |
15: 98,571,746 (GRCm39) |
M100K |
probably benign |
Het |
| Sema3c |
A |
G |
5: 17,877,504 (GRCm39) |
N204D |
probably damaging |
Het |
| Susd4 |
A |
G |
1: 182,686,026 (GRCm39) |
|
probably null |
Het |
| Taar7f |
G |
T |
10: 23,926,239 (GRCm39) |
A278S |
possibly damaging |
Het |
| Tle4 |
T |
A |
19: 14,522,178 (GRCm39) |
M122L |
probably benign |
Het |
| Trim9 |
C |
T |
12: 70,295,125 (GRCm39) |
V662I |
probably benign |
Het |
| Vmn2r10 |
C |
A |
5: 109,150,345 (GRCm39) |
C233F |
probably damaging |
Het |
| Vmn2r98 |
A |
C |
17: 19,285,521 (GRCm39) |
T114P |
possibly damaging |
Het |
| Zfyve21 |
C |
T |
12: 111,794,247 (GRCm39) |
|
probably benign |
Het |
| Zng1 |
T |
C |
19: 24,918,140 (GRCm39) |
E210G |
possibly damaging |
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 |
|
IGL01375:Prepl
|
APN |
17 |
85,379,419 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
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 |
2013-12-09 |
Incidental Mutation