Incidental Mutation 'R4196:Prepl'
| ID |
318580 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prepl
|
| Ensembl Gene |
ENSMUSG00000024127 |
| Gene Name |
prolyl endopeptidase-like |
| Synonyms |
9530014L06Rik, D030028O16Rik, 2810457N15Rik |
| MMRRC Submission |
041027-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.200)
|
| Stock # |
R4196 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
85370898-85397669 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 85388582 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 174
(T174A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130967
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072406]
[ENSMUST00000171795]
|
| AlphaFold |
Q8C167 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000072406
AA Change: T87A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000072239
Gene: ENSMUSG00000024127
AA Change: T87A
| 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 benign
Transcript: ENSMUST00000171795
AA Change: T174A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000130967
Gene: ENSMUSG00000024127
AA Change: T174A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Peptidase_S9_N
|
86 |
428 |
5.2e-30 |
PFAM |
|
Pfam:Peptidase_S9
|
486 |
710 |
2e-35 |
PFAM |
|
| Meta Mutation Damage Score |
0.0773 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.8%
|
| Validation Efficiency |
100% (39/39) |
| 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 |
|---|
| Acmsd |
T |
G |
1: 127,676,931 (GRCm39) |
L152R |
probably damaging |
Het |
| Ankle2 |
A |
G |
5: 110,392,409 (GRCm39) |
K472E |
possibly damaging |
Het |
| Aup1 |
T |
C |
6: 83,032,211 (GRCm39) |
V126A |
probably damaging |
Het |
| Baz1a |
T |
C |
12: 54,958,200 (GRCm39) |
Y1014C |
probably damaging |
Het |
| Bcl9 |
A |
T |
3: 97,123,684 (GRCm39) |
|
probably benign |
Het |
| Bltp2 |
A |
G |
11: 78,154,382 (GRCm39) |
|
probably benign |
Het |
| Cnot2 |
A |
T |
10: 116,337,209 (GRCm39) |
N221K |
possibly damaging |
Het |
| Col19a1 |
G |
A |
1: 24,573,133 (GRCm39) |
S213L |
unknown |
Het |
| Eif4enif1 |
T |
C |
11: 3,193,186 (GRCm39) |
V675A |
possibly damaging |
Het |
| Elp1 |
A |
T |
4: 56,755,353 (GRCm39) |
N1295K |
probably damaging |
Het |
| Elp3 |
A |
G |
14: 65,785,451 (GRCm39) |
L450P |
probably damaging |
Het |
| Erbb4 |
C |
T |
1: 68,383,014 (GRCm39) |
D328N |
possibly damaging |
Het |
| Fbll1 |
T |
A |
11: 35,688,699 (GRCm39) |
H188L |
possibly damaging |
Het |
| Frem2 |
A |
G |
3: 53,446,689 (GRCm39) |
F2360L |
possibly damaging |
Het |
| Gm2396 |
A |
G |
9: 88,799,715 (GRCm39) |
|
noncoding transcript |
Het |
| Gulo |
G |
T |
14: 66,225,702 (GRCm39) |
P375T |
possibly damaging |
Het |
| Hspd1 |
T |
C |
1: 55,126,068 (GRCm39) |
M11V |
probably benign |
Het |
| Itgav |
A |
G |
2: 83,598,671 (GRCm39) |
T243A |
probably benign |
Het |
| Lipg |
C |
T |
18: 75,078,902 (GRCm39) |
R450H |
probably damaging |
Het |
| Lrp3 |
T |
A |
7: 34,902,835 (GRCm39) |
S504C |
probably damaging |
Het |
| Mrps9 |
T |
G |
1: 42,940,254 (GRCm39) |
|
probably benign |
Het |
| Nlgn1 |
A |
G |
3: 25,488,556 (GRCm39) |
V564A |
probably damaging |
Het |
| Ntf3 |
T |
C |
6: 126,079,138 (GRCm39) |
T110A |
probably benign |
Het |
| Pkd1l1 |
T |
A |
11: 8,859,929 (GRCm39) |
I560F |
probably damaging |
Het |
| Ptprg |
A |
T |
14: 12,122,002 (GRCm38) |
T289S |
possibly damaging |
Het |
| Rab11fip2 |
T |
C |
19: 59,924,213 (GRCm39) |
T222A |
probably damaging |
Het |
| Rhbdd3 |
G |
T |
11: 5,049,460 (GRCm39) |
|
probably benign |
Het |
| Septin4 |
C |
A |
11: 87,479,598 (GRCm39) |
D239E |
probably damaging |
Het |
| Shprh |
A |
G |
10: 11,083,604 (GRCm39) |
|
probably benign |
Het |
| Slc3a1 |
T |
A |
17: 85,368,306 (GRCm39) |
W525R |
probably damaging |
Het |
| Trim75 |
A |
G |
8: 65,435,416 (GRCm39) |
S345P |
probably damaging |
Het |
| Usp5 |
C |
T |
6: 124,801,901 (GRCm39) |
E72K |
possibly damaging |
Het |
| Vmn1r225 |
T |
A |
17: 20,723,237 (GRCm39) |
M226K |
probably benign |
Het |
| Wnk4 |
T |
A |
11: 101,160,457 (GRCm39) |
V697E |
probably damaging |
Het |
| Zbtb9 |
C |
T |
17: 27,192,853 (GRCm39) |
T86I |
probably benign |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CGAACTCCATAGGACACTGTG -3'
(R):5'- GGAAGATATCAGTCTATGACCTCAG -3'
Sequencing Primer
(F):5'- CACTGTGGAGTGCAGAGAG -3'
(R):5'- GTGGAGTTCTCTCTTCCCTA -3'
|
| Posted On |
2015-06-10 |
Incidental Mutation