Incidental Mutation 'R5954:Prepl'
| ID |
471078 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prepl
|
| Ensembl Gene |
ENSMUSG00000024127 |
| Gene Name |
prolyl endopeptidase-like |
| Synonyms |
9530014L06Rik, D030028O16Rik, 2810457N15Rik |
| MMRRC Submission |
044143-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.190)
|
| Stock # |
R5954 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
85370898-85397669 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 85372077 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 725
(F725L)
|
| 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 benign
Transcript: ENSMUST00000072406
AA Change: F638L
PolyPhen 2
Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000072239
Gene: ENSMUSG00000024127
AA Change: F638L
| 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: F725L
PolyPhen 2
Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000130967
Gene: ENSMUSG00000024127
AA Change: F725L
| 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 |
0.0637 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.5%
|
| Validation Efficiency |
100% (62/62) |
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca3 |
T |
C |
17: 24,616,390 (GRCm39) |
I944T |
probably benign |
Het |
| Ank2 |
T |
C |
3: 126,791,510 (GRCm39) |
T823A |
probably benign |
Het |
| Ankrd42 |
C |
G |
7: 92,273,175 (GRCm39) |
|
probably null |
Het |
| Anks4b |
T |
A |
7: 119,781,396 (GRCm39) |
N142K |
possibly damaging |
Het |
| Armc5 |
A |
G |
7: 127,841,444 (GRCm39) |
E484G |
probably benign |
Het |
| B4galnt3 |
A |
G |
6: 120,202,149 (GRCm39) |
F118L |
possibly damaging |
Het |
| Bbs12 |
C |
T |
3: 37,374,151 (GRCm39) |
L200F |
possibly damaging |
Het |
| Cacna1h |
A |
G |
17: 25,602,175 (GRCm39) |
F1555S |
probably damaging |
Het |
| Cds2 |
A |
G |
2: 132,139,191 (GRCm39) |
T145A |
probably benign |
Het |
| Cenps |
C |
A |
4: 149,214,658 (GRCm39) |
|
probably benign |
Het |
| Chd6 |
A |
C |
2: 160,807,747 (GRCm39) |
H1822Q |
probably benign |
Het |
| Chdh |
C |
T |
14: 29,753,138 (GRCm39) |
R16C |
possibly damaging |
Het |
| Cnga1 |
T |
C |
5: 72,762,221 (GRCm39) |
D431G |
probably damaging |
Het |
| Dock8 |
G |
A |
19: 25,148,983 (GRCm39) |
R1487Q |
probably damaging |
Het |
| Farp1 |
T |
A |
14: 121,460,079 (GRCm39) |
V116D |
probably damaging |
Het |
| Fbxo24 |
T |
A |
5: 137,617,943 (GRCm39) |
T274S |
probably damaging |
Het |
| Fmnl3 |
G |
A |
15: 99,223,791 (GRCm39) |
R302W |
probably damaging |
Het |
| Gatad2b |
T |
C |
3: 90,258,748 (GRCm39) |
L257P |
probably damaging |
Het |
| Gm20402 |
C |
T |
3: 52,176,311 (GRCm39) |
P30L |
probably damaging |
Het |
| Gm7932 |
C |
T |
6: 48,839,793 (GRCm39) |
|
noncoding transcript |
Het |
| Gpatch8 |
A |
T |
11: 102,371,767 (GRCm39) |
D590E |
unknown |
Het |
| Herc1 |
T |
G |
9: 66,358,774 (GRCm39) |
|
probably benign |
Het |
| Hsd3b2 |
T |
A |
3: 98,618,875 (GRCm39) |
I357F |
probably benign |
Het |
| Ipo5 |
A |
G |
14: 121,157,396 (GRCm39) |
Y78C |
probably damaging |
Het |
| Itga8 |
C |
A |
2: 12,137,297 (GRCm39) |
A23S |
probably damaging |
Het |
| Itgb4 |
C |
T |
11: 115,874,983 (GRCm39) |
R447W |
probably benign |
Het |
| Kat2a |
A |
G |
11: 100,599,724 (GRCm39) |
V451A |
possibly damaging |
Het |
| Knstrn |
A |
G |
2: 118,661,436 (GRCm39) |
|
probably benign |
Het |
| Med23 |
A |
G |
10: 24,746,381 (GRCm39) |
|
probably benign |
Het |
| Mefv |
A |
G |
16: 3,533,579 (GRCm39) |
Y231H |
probably benign |
Het |
| Or4d10 |
A |
T |
19: 12,051,447 (GRCm39) |
I183N |
possibly damaging |
Het |
| Or4e5 |
T |
A |
14: 52,727,624 (GRCm39) |
I266F |
probably benign |
Het |
| Or5p69 |
T |
A |
7: 107,966,808 (GRCm39) |
I37N |
probably damaging |
Het |
| Or8g21 |
A |
G |
9: 38,906,711 (GRCm39) |
S7P |
probably damaging |
Het |
| Pak5 |
G |
T |
2: 135,958,383 (GRCm39) |
T235K |
probably benign |
Het |
| Plppr3 |
G |
T |
10: 79,701,960 (GRCm39) |
P294Q |
probably benign |
Het |
| Ptchd3 |
A |
T |
11: 121,727,413 (GRCm39) |
|
probably benign |
Het |
| Rprd2 |
T |
C |
3: 95,672,175 (GRCm39) |
E1076G |
probably damaging |
Het |
| Sarm1 |
C |
A |
11: 78,381,428 (GRCm39) |
E352* |
probably null |
Het |
| Sccpdh |
T |
A |
1: 179,508,153 (GRCm39) |
H14Q |
probably benign |
Het |
| Senp7 |
A |
G |
16: 55,990,234 (GRCm39) |
I661V |
probably benign |
Het |
| Septin3 |
T |
C |
15: 82,174,628 (GRCm39) |
F140L |
probably damaging |
Het |
| Spag6 |
G |
T |
2: 18,715,417 (GRCm39) |
Q65H |
probably damaging |
Het |
| Tnni3 |
C |
T |
7: 4,522,539 (GRCm39) |
R137H |
probably damaging |
Het |
| Trank1 |
A |
G |
9: 111,194,201 (GRCm39) |
S742G |
probably benign |
Het |
| Ucn3 |
T |
C |
13: 3,991,413 (GRCm39) |
I80V |
probably benign |
Het |
| Ulk2 |
A |
T |
11: 61,694,622 (GRCm39) |
|
probably benign |
Het |
| Uncx |
C |
T |
5: 139,533,384 (GRCm39) |
S483L |
probably benign |
Het |
| Vps39 |
A |
G |
2: 120,155,143 (GRCm39) |
V550A |
probably damaging |
Het |
| Zfp697 |
C |
A |
3: 98,335,909 (GRCm39) |
T558K |
probably damaging |
Het |
| Zfp790 |
G |
T |
7: 29,528,929 (GRCm39) |
G538V |
probably 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 |
|
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 |
|
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'- AAACGACTTTCCTAGGCCAG -3'
(R):5'- CTAAGGAATAGCTGGCTCTTGTTG -3'
Sequencing Primer
(F):5'- CTTTCCTAGGCCAGGGGGTG -3'
(R):5'- GTTAAAGACTCCACTGTCAGGTTAGC -3'
|
| Posted On |
2017-03-31 |
Incidental Mutation