Incidental Mutation 'R6468:Prep'
| ID |
516433 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prep
|
| Ensembl Gene |
ENSMUSG00000019849 |
| Gene Name |
prolyl endopeptidase |
| Synonyms |
Pop, D10Wsu136e, prolyl oligopeptidase |
| MMRRC Submission |
044601-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6468 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
44943312-45038847 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 44991203 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 290
(Y290N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000097444
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099858]
|
| AlphaFold |
Q9QUR6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000099858
AA Change: Y290N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000097444
Gene: ENSMUSG00000019849
AA Change: Y290N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Peptidase_S9_N
|
7 |
423 |
1.2e-170 |
PFAM |
|
Pfam:Peptidase_S9
|
482 |
707 |
1.7e-72 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.9%
|
| Validation Efficiency |
97% (57/59) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a cytosolic prolyl endopeptidase that cleaves peptide bonds on the C-terminal side of prolyl residues within peptides that are up to approximately 30 amino acids long. Prolyl endopeptidases have been reported to be involved in the maturation and degradation of peptide hormones and neuropeptides. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit sex-dependent resistance to diet-induced obesity and adiposity. Mice heterozygous for a gene trap allele exhibit maternal inheritance influenced increase in body weight, organ weight, and adiposity. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamtsl5 |
A |
G |
10: 80,177,747 (GRCm39) |
V305A |
possibly damaging |
Het |
| Adgrl4 |
A |
G |
3: 151,198,012 (GRCm39) |
T91A |
probably benign |
Het |
| Ano6 |
A |
G |
15: 95,865,595 (GRCm39) |
I860V |
probably benign |
Het |
| B3galnt1 |
A |
G |
3: 69,482,866 (GRCm39) |
S132P |
probably damaging |
Het |
| Bltp1 |
T |
C |
3: 37,062,592 (GRCm39) |
I3368T |
probably damaging |
Het |
| Btbd10 |
A |
T |
7: 112,946,266 (GRCm39) |
V33E |
probably benign |
Het |
| Cacna1g |
A |
T |
11: 94,330,548 (GRCm39) |
V989D |
probably damaging |
Het |
| Celsr3 |
A |
G |
9: 108,712,989 (GRCm39) |
D1807G |
probably benign |
Het |
| Chd6 |
A |
G |
2: 160,854,987 (GRCm39) |
M807T |
probably damaging |
Het |
| Cpxm2 |
T |
C |
7: 131,672,589 (GRCm39) |
D320G |
probably damaging |
Het |
| Cryzl1 |
A |
C |
16: 91,489,413 (GRCm39) |
|
probably null |
Het |
| Dcbld2 |
A |
T |
16: 58,253,736 (GRCm39) |
K158* |
probably null |
Het |
| Depdc5 |
A |
G |
5: 33,069,575 (GRCm39) |
N437S |
probably benign |
Het |
| Dock7 |
G |
A |
4: 98,855,464 (GRCm39) |
S1496L |
probably benign |
Het |
| Eea1 |
T |
G |
10: 95,864,274 (GRCm39) |
I931R |
probably benign |
Het |
| Eif2ak4 |
C |
A |
2: 118,266,722 (GRCm39) |
L714I |
probably damaging |
Het |
| Enpep |
A |
G |
3: 129,125,509 (GRCm39) |
|
probably null |
Het |
| Fam83b |
T |
A |
9: 76,409,413 (GRCm39) |
K238* |
probably null |
Het |
| Fam83f |
A |
G |
15: 80,576,312 (GRCm39) |
Y321C |
possibly damaging |
Het |
| Fanci |
A |
G |
7: 79,067,687 (GRCm39) |
I42V |
probably benign |
Het |
| Flg2 |
A |
T |
3: 93,121,728 (GRCm39) |
R1299S |
unknown |
Het |
| Gak |
G |
T |
5: 108,771,202 (GRCm39) |
C102* |
probably null |
Het |
| Gcnt7 |
A |
G |
2: 172,295,993 (GRCm39) |
L277P |
probably damaging |
Het |
| Gucy2d |
A |
G |
7: 98,099,168 (GRCm39) |
E329G |
probably benign |
Het |
| Hacd1 |
T |
C |
2: 14,040,755 (GRCm39) |
I167V |
probably damaging |
Het |
| Hdlbp |
T |
A |
1: 93,345,389 (GRCm39) |
D662V |
possibly damaging |
Het |
| Hspa4 |
A |
T |
11: 53,155,883 (GRCm39) |
V674E |
probably benign |
Het |
| Hunk |
A |
G |
16: 90,290,320 (GRCm39) |
Q442R |
possibly damaging |
Het |
| Lce1j |
A |
T |
3: 92,696,729 (GRCm39) |
C16* |
probably null |
Het |
| Lrat |
A |
T |
3: 82,810,799 (GRCm39) |
M74K |
probably damaging |
Het |
| Lrig2 |
G |
A |
3: 104,374,509 (GRCm39) |
R191C |
probably damaging |
Het |
| Lrrc37a |
A |
C |
11: 103,351,666 (GRCm39) |
F2558L |
unknown |
Het |
| Mctp1 |
T |
A |
13: 76,879,930 (GRCm39) |
|
probably null |
Het |
| Mecom |
T |
A |
3: 30,194,535 (GRCm39) |
|
probably benign |
Het |
| Mgst1 |
A |
G |
6: 138,118,585 (GRCm39) |
|
probably null |
Het |
| Ms4a15 |
T |
G |
19: 10,970,534 (GRCm39) |
E3A |
probably benign |
Het |
| Myo1d |
T |
C |
11: 80,448,300 (GRCm39) |
I942V |
probably benign |
Het |
| Neu2 |
A |
G |
1: 87,524,600 (GRCm39) |
Y195C |
probably damaging |
Het |
| Nipa1 |
A |
T |
7: 55,669,252 (GRCm39) |
V22E |
probably benign |
Het |
| Or4n4b |
A |
T |
14: 50,535,924 (GRCm39) |
L281I |
probably benign |
Het |
| Or6c35 |
T |
C |
10: 129,169,580 (GRCm39) |
S277P |
possibly damaging |
Het |
| Or8k25 |
T |
A |
2: 86,244,381 (GRCm39) |
N5I |
probably damaging |
Het |
| Pik3r4 |
A |
G |
9: 105,562,389 (GRCm39) |
T1223A |
possibly damaging |
Het |
| Ppl |
T |
C |
16: 4,910,305 (GRCm39) |
D811G |
probably damaging |
Het |
| Ptk6 |
A |
T |
2: 180,840,895 (GRCm39) |
H215Q |
probably benign |
Het |
| Rad50 |
A |
G |
11: 53,582,971 (GRCm39) |
I474T |
possibly damaging |
Het |
| Rnf213 |
T |
A |
11: 119,343,513 (GRCm39) |
V3626E |
possibly damaging |
Het |
| Scn4a |
C |
T |
11: 106,236,502 (GRCm39) |
V253M |
probably damaging |
Het |
| Snta1 |
T |
A |
2: 154,219,069 (GRCm39) |
D422V |
probably damaging |
Het |
| Spata31h1 |
G |
T |
10: 82,131,150 (GRCm39) |
T620K |
probably benign |
Het |
| Stk38 |
A |
G |
17: 29,203,086 (GRCm39) |
L160P |
probably benign |
Het |
| Tapbp |
T |
C |
17: 34,145,072 (GRCm39) |
F323S |
probably damaging |
Het |
| Uggt1 |
C |
T |
1: 36,212,531 (GRCm39) |
R937Q |
probably benign |
Het |
| Vash2 |
G |
A |
1: 190,710,484 (GRCm39) |
P57L |
probably damaging |
Het |
| Vmn1r4 |
G |
A |
6: 56,933,852 (GRCm39) |
V119I |
probably benign |
Het |
| Vmn2r74 |
T |
C |
7: 85,610,599 (GRCm39) |
D31G |
probably benign |
Het |
| Zfp114 |
T |
C |
7: 23,877,206 (GRCm39) |
V16A |
possibly damaging |
Het |
|
| Other mutations in Prep |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00654:Prep
|
APN |
10 |
44,991,269 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01412:Prep
|
APN |
10 |
45,029,208 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01577:Prep
|
APN |
10 |
44,948,144 (GRCm39) |
splice site |
probably benign |
|
|
IGL02751:Prep
|
APN |
10 |
44,991,282 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02754:Prep
|
APN |
10 |
44,943,428 (GRCm39) |
start codon destroyed |
probably null |
0.23 |
|
IGL02875:Prep
|
APN |
10 |
45,034,529 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02957:Prep
|
APN |
10 |
45,002,126 (GRCm39) |
missense |
probably benign |
0.44 |
|
R0008:Prep
|
UTSW |
10 |
44,991,174 (GRCm39) |
missense |
probably benign |
0.17 |
|
R0008:Prep
|
UTSW |
10 |
44,991,174 (GRCm39) |
missense |
probably benign |
0.17 |
|
R0167:Prep
|
UTSW |
10 |
45,034,326 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R0396:Prep
|
UTSW |
10 |
44,968,772 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0828:Prep
|
UTSW |
10 |
45,031,621 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1309:Prep
|
UTSW |
10 |
45,002,122 (GRCm39) |
missense |
probably benign |
|
|
R2166:Prep
|
UTSW |
10 |
44,968,751 (GRCm39) |
splice site |
probably benign |
|
|
R4020:Prep
|
UTSW |
10 |
44,968,894 (GRCm39) |
splice site |
probably benign |
|
|
R4058:Prep
|
UTSW |
10 |
45,034,467 (GRCm39) |
missense |
probably benign |
0.29 |
|
R4162:Prep
|
UTSW |
10 |
44,943,458 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R4163:Prep
|
UTSW |
10 |
44,943,458 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R4163:Prep
|
UTSW |
10 |
44,943,436 (GRCm39) |
missense |
probably benign |
|
|
R4328:Prep
|
UTSW |
10 |
44,996,745 (GRCm39) |
missense |
probably benign |
|
|
R4343:Prep
|
UTSW |
10 |
44,996,866 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4493:Prep
|
UTSW |
10 |
44,996,915 (GRCm39) |
missense |
probably benign |
0.38 |
|
R4495:Prep
|
UTSW |
10 |
44,996,915 (GRCm39) |
missense |
probably benign |
0.38 |
|
R5192:Prep
|
UTSW |
10 |
45,029,207 (GRCm39) |
missense |
probably benign |
0.28 |
|
R5569:Prep
|
UTSW |
10 |
44,973,533 (GRCm39) |
missense |
probably benign |
|
|
R5888:Prep
|
UTSW |
10 |
44,943,460 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R5999:Prep
|
UTSW |
10 |
44,948,225 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6556:Prep
|
UTSW |
10 |
45,034,410 (GRCm39) |
frame shift |
probably null |
|
|
R6696:Prep
|
UTSW |
10 |
45,029,174 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6737:Prep
|
UTSW |
10 |
44,973,591 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R6762:Prep
|
UTSW |
10 |
45,024,219 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6830:Prep
|
UTSW |
10 |
44,973,597 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7105:Prep
|
UTSW |
10 |
45,002,159 (GRCm39) |
missense |
probably benign |
|
|
R7193:Prep
|
UTSW |
10 |
44,968,795 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7466:Prep
|
UTSW |
10 |
45,026,534 (GRCm39) |
missense |
probably benign |
0.32 |
|
R7492:Prep
|
UTSW |
10 |
44,996,910 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7553:Prep
|
UTSW |
10 |
45,034,620 (GRCm39) |
makesense |
probably null |
|
|
R7860:Prep
|
UTSW |
10 |
44,967,108 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8544:Prep
|
UTSW |
10 |
45,029,223 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8808:Prep
|
UTSW |
10 |
44,971,252 (GRCm39) |
nonsense |
probably null |
|
|
R8894:Prep
|
UTSW |
10 |
45,034,620 (GRCm39) |
makesense |
probably null |
|
|
R9055:Prep
|
UTSW |
10 |
44,991,291 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9316:Prep
|
UTSW |
10 |
44,967,192 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9488:Prep
|
UTSW |
10 |
44,996,807 (GRCm39) |
missense |
|
|
|
Z1176:Prep
|
UTSW |
10 |
45,026,564 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTGTGCTGAGCTCCTAGTAC -3'
(R):5'- CGTACAGTCAGCAGACCATG -3'
Sequencing Primer
(F):5'- ACCATCTATGCTGTGAACTTCGTAG -3'
(R):5'- CGATGTTCTTGCAAGCACAG -3'
|
| Posted On |
2018-05-21 |
Incidental Mutation