Incidental Mutation 'R8229:Prepl'
| ID |
640964 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prepl
|
| Ensembl Gene |
ENSMUSG00000024127 |
| Gene Name |
prolyl endopeptidase-like |
| Synonyms |
9530014L06Rik, D030028O16Rik, 2810457N15Rik |
| MMRRC Submission |
067645-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.200)
|
| Stock # |
R8229 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
85370898-85397669 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 85388689 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 138
(D138G)
|
| 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: D51G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000072239
Gene: ENSMUSG00000024127
AA Change: D51G
| 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: D138G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000130967
Gene: ENSMUSG00000024127
AA Change: D138G
| 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 |
- 1x: 99.9%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.8%
|
| Validation Efficiency |
100% (41/41) |
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam3 |
A |
T |
8: 25,201,754 (GRCm39) |
M203K |
probably damaging |
Het |
| Arhgap23 |
G |
A |
11: 97,344,732 (GRCm39) |
V565I |
probably benign |
Het |
| D6Wsu163e |
G |
T |
6: 126,943,966 (GRCm39) |
R454L |
probably benign |
Het |
| Def6 |
A |
G |
17: 28,436,729 (GRCm39) |
D131G |
probably damaging |
Het |
| Erc1 |
T |
C |
6: 119,730,249 (GRCm39) |
T616A |
probably benign |
Het |
| Ermard |
T |
A |
17: 15,279,596 (GRCm39) |
|
probably benign |
Het |
| Fsip2 |
T |
C |
2: 82,808,487 (GRCm39) |
L1602P |
possibly damaging |
Het |
| Gli1 |
C |
T |
10: 127,168,317 (GRCm39) |
R512Q |
possibly damaging |
Het |
| Gm6034 |
A |
G |
17: 36,367,268 (GRCm39) |
T38A |
unknown |
Het |
| H2-M10.1 |
T |
C |
17: 36,634,931 (GRCm39) |
I325V |
probably benign |
Het |
| Inf2 |
A |
G |
12: 112,578,030 (GRCm39) |
D1107G |
unknown |
Het |
| Iws1 |
A |
G |
18: 32,217,740 (GRCm39) |
N448S |
probably benign |
Het |
| Klhl24 |
T |
C |
16: 19,933,321 (GRCm39) |
Y311H |
possibly damaging |
Het |
| Lama3 |
C |
T |
18: 12,540,608 (GRCm39) |
A304V |
probably benign |
Het |
| Limch1 |
A |
G |
5: 67,186,138 (GRCm39) |
E646G |
probably damaging |
Het |
| Lrrc8c |
T |
A |
5: 105,754,402 (GRCm39) |
V59E |
probably benign |
Het |
| Lrrn4 |
G |
A |
2: 132,711,807 (GRCm39) |
T672I |
probably damaging |
Het |
| Magi3 |
C |
A |
3: 103,923,017 (GRCm39) |
E1233D |
possibly damaging |
Het |
| Magi3 |
T |
C |
3: 103,923,018 (GRCm39) |
E1233G |
probably benign |
Het |
| Mgat5b |
A |
T |
11: 116,838,213 (GRCm39) |
K284M |
probably benign |
Het |
| Nedd4 |
G |
T |
9: 72,638,670 (GRCm39) |
K485N |
probably benign |
Het |
| Or4c114 |
T |
A |
2: 88,905,382 (GRCm39) |
N18Y |
possibly damaging |
Het |
| Or5b101 |
A |
G |
19: 13,005,561 (GRCm39) |
I44T |
possibly damaging |
Het |
| Or5p57 |
C |
T |
7: 107,665,794 (GRCm39) |
M70I |
probably benign |
Het |
| Or5w17 |
A |
T |
2: 87,583,408 (GRCm39) |
C310S |
probably benign |
Het |
| Otud4 |
A |
G |
8: 80,400,604 (GRCm39) |
H1106R |
unknown |
Het |
| Pcdha7 |
C |
A |
18: 37,107,776 (GRCm39) |
S267* |
probably null |
Het |
| Pcdhb11 |
A |
G |
18: 37,555,671 (GRCm39) |
I334V |
probably benign |
Het |
| Phf11b |
A |
T |
14: 59,568,730 (GRCm39) |
L61Q |
probably damaging |
Het |
| Sipa1l1 |
T |
C |
12: 82,484,622 (GRCm39) |
V1592A |
probably damaging |
Het |
| Smc6 |
T |
A |
12: 11,341,673 (GRCm39) |
S564T |
probably benign |
Het |
| Spty2d1 |
A |
G |
7: 46,647,522 (GRCm39) |
V469A |
probably benign |
Het |
| Trim11 |
G |
A |
11: 58,872,167 (GRCm39) |
|
probably benign |
Het |
| Ttll7 |
T |
A |
3: 146,607,204 (GRCm39) |
I158K |
probably damaging |
Het |
| Ugt3a1 |
A |
G |
15: 9,367,463 (GRCm39) |
E402G |
probably damaging |
Het |
| Usp33 |
T |
C |
3: 152,075,929 (GRCm39) |
V383A |
probably benign |
Het |
| Ythdc1 |
A |
G |
5: 86,957,167 (GRCm39) |
|
probably benign |
Het |
| Ywhab |
T |
G |
2: 163,856,015 (GRCm39) |
Y130* |
probably null |
Het |
| Zfp609 |
T |
C |
9: 65,610,782 (GRCm39) |
K727R |
possibly damaging |
Het |
| Zscan30 |
A |
C |
18: 24,104,737 (GRCm39) |
L37R |
noncoding transcript |
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 |
|
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 |
|
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'- TACAGACTACTCGGTGGCTTACC -3'
(R):5'- GACTGTAGCTCATAAGTTGATACG -3'
Sequencing Primer
(F):5'- CTTACCGAAACTGGACACGTTTGG -3'
(R):5'- CAGTCTATGACCTCAGAGA -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation