Mutagenetix > Incidental Mutation

Incidental Mutation 'R7466:Prep'

578786

Institutional Source

Beutler Lab

Gene Symbol

Prep

Ensembl Gene

ENSMUSG00000019849

Gene Name

prolyl endopeptidase

Synonyms

Pop, D10Wsu136e, prolyl oligopeptidase

MMRRC Submission

045540-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7466 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

44943312-45038847 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 45026534 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 486 (V486A)

Ref Sequence

ENSEMBL: ENSMUSP00000097444 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099858]

AlphaFold

Q9QUR6

Predicted Effect

probably benign
Transcript: ENSMUST00000099858
AA Change: V486A

PolyPhen 2 Score 0.322 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000097444
Gene: ENSMUSG00000019849
AA Change: V486A

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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

99% (83/84)

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AI182371	T	A	2: 34,978,753 (GRCm39)	K203*	probably null	Het
Akr1c13	T	C	13: 4,242,436 (GRCm39)		probably benign	Het
Amer3	A	G	1: 34,627,074 (GRCm39)	S438G	probably damaging	Het
Aqp9	T	A	9: 71,070,543 (GRCm39)		probably null	Het
Art4	G	T	6: 136,831,848 (GRCm39)	H98N	probably damaging	Het
Bdh1	T	C	16: 31,266,422 (GRCm39)	S70P	probably benign	Het
Ccdc61	A	C	7: 18,625,030 (GRCm39)	Y503D	probably damaging	Het
Cd180	A	T	13: 102,841,503 (GRCm39)	N183I	probably damaging	Het
Cd200r2	C	T	16: 44,729,537 (GRCm39)	A64V	probably damaging	Het
Ceacam9	A	C	7: 16,457,780 (GRCm39)	K98Q	probably benign	Het
Cep44	AACGC	A	8: 56,994,018 (GRCm39)		probably null	Het
Cfap77	G	T	2: 28,845,625 (GRCm39)	D247E	probably benign	Het
Cftr	T	C	6: 18,227,972 (GRCm39)	M388T	probably benign	Het
Chrnb1	G	A	11: 69,675,476 (GRCm39)	H493Y	probably damaging	Het
Ckap2	A	C	8: 22,667,402 (GRCm39)	M153R	probably benign	Het
Cnot6l	A	G	5: 96,278,987 (GRCm39)	V77A	probably benign	Het
Col12a1	C	T	9: 79,562,689 (GRCm39)	E1798K	possibly damaging	Het
Cth	T	A	3: 157,630,522 (GRCm39)	D49V	probably benign	Het
Ctnnb1	T	C	9: 120,784,482 (GRCm39)	S425P	probably damaging	Het
Ctnnd1	T	C	2: 84,441,129 (GRCm39)	N690S	probably benign	Het
Dennd2b	A	G	7: 109,124,553 (GRCm39)	L1096P	probably damaging	Het
Dennd4c	A	G	4: 86,692,568 (GRCm39)	D26G	probably damaging	Het
Dlg5	G	A	14: 24,295,280 (GRCm39)	P80L	probably damaging	Het
Dnai3	T	C	3: 145,761,373 (GRCm39)	D661G	probably benign	Het
Eef2k	A	G	7: 120,502,707 (GRCm39)		probably null	Het
Ephb2	C	T	4: 136,386,376 (GRCm39)	R791H	probably damaging	Het
Erh	T	C	12: 80,687,757 (GRCm39)	Y22C	probably benign	Het
F5	C	T	1: 164,020,897 (GRCm39)	T1124I	possibly damaging	Het
Fam220a	T	A	5: 143,549,226 (GRCm39)	C213S	possibly damaging	Het
Fat2	G	T	11: 55,201,258 (GRCm39)	N605K	probably damaging	Het
Ganab	C	A	19: 8,891,933 (GRCm39)	S780*	probably null	Het
Gbgt1	C	T	2: 28,392,219 (GRCm39)	P67S	probably damaging	Het
Gm17190	G	T	13: 96,219,287 (GRCm39)	G208*	probably null	Het
Grhl2	A	G	15: 37,291,860 (GRCm39)	Y316C	probably damaging	Het
H2-T10	T	C	17: 36,431,741 (GRCm39)	T38A	probably benign	Het
Ins1	A	G	19: 52,252,858 (GRCm39)		probably benign	Het
Ippk	T	C	13: 49,585,943 (GRCm39)		probably null	Het
Klc4	T	A	17: 46,950,836 (GRCm39)	I258F	probably benign	Het
Manba	C	A	3: 135,248,154 (GRCm39)	L348I	probably benign	Het
Mgam	A	G	6: 40,721,723 (GRCm39)	N347S	probably benign	Het
Myo18b	T	C	5: 112,871,758 (GRCm39)	T2108A	probably benign	Het
Naip5	A	T	13: 100,358,494 (GRCm39)	L914*	probably null	Het
Nsa2	C	T	13: 97,267,728 (GRCm39)	A242T	probably benign	Het
Nsd2	G	A	5: 34,039,491 (GRCm39)	W834*	probably null	Het
Or10q3	T	A	19: 11,847,680 (GRCm39)	D300V	possibly damaging	Het
Or5p50	A	T	7: 107,422,129 (GRCm39)	C182*	probably null	Het
Or5w1	T	C	2: 87,486,740 (GRCm39)	N175S	possibly damaging	Het
Or8s16	T	C	15: 98,211,261 (GRCm39)	M57V	probably damaging	Het
Pam	A	T	1: 97,769,972 (GRCm39)	D599E	probably damaging	Het
Phf20l1	A	G	15: 66,508,733 (GRCm39)	K864R	probably damaging	Het
Pip4p2	T	A	4: 14,912,477 (GRCm39)	Y195*	probably null	Het
Plcl2	A	G	17: 50,915,496 (GRCm39)	D835G	probably damaging	Het
Ppm1m	C	A	9: 106,073,356 (GRCm39)	A329S	probably damaging	Het
Prkcb	A	T	7: 122,116,067 (GRCm39)	N182I	probably damaging	Het
Prkcz	A	G	4: 155,356,059 (GRCm39)	F355S	probably damaging	Het
Psg20	C	T	7: 18,418,392 (GRCm39)	S125N	probably benign	Het
Psmd12	A	G	11: 107,382,883 (GRCm39)	D234G	probably benign	Het
Pvrig-ps	A	T	5: 138,340,270 (GRCm39)	M14L	probably benign	Het
Rabgap1l	C	T	1: 160,054,054 (GRCm39)		probably null	Het
Rfc1	A	T	5: 65,432,769 (GRCm39)	C764S	probably damaging	Het
Ryr3	T	C	2: 112,757,302 (GRCm39)	D351G	probably benign	Het
Scart1	T	C	7: 139,800,619 (GRCm39)		probably null	Het
Serpinb9g	T	C	13: 33,679,150 (GRCm39)	F340S	probably benign	Het
Sirpb1c	C	A	3: 15,886,430 (GRCm39)	L315F	probably damaging	Het
Slc24a1	C	G	9: 64,835,686 (GRCm39)	E814Q	unknown	Het
Slc26a11	A	T	11: 119,265,328 (GRCm39)	Q355L	probably damaging	Het
Sp100	C	T	1: 85,634,960 (GRCm39)	L483F	possibly damaging	Het
Ston1	T	A	17: 88,943,329 (GRCm39)	M245K	probably benign	Het
Swap70	T	A	7: 109,873,979 (GRCm39)	D442E	probably benign	Het
Syne2	T	A	12: 76,092,960 (GRCm39)	V450D	possibly damaging	Het
Tbck	T	A	3: 132,458,324 (GRCm39)	N651K	probably damaging	Het
Timd4	A	T	11: 46,708,585 (GRCm39)	T204S	probably benign	Het
Tmem102	A	G	11: 69,695,711 (GRCm39)	L87P	probably damaging	Het
Tmprss11e	T	A	5: 86,857,339 (GRCm39)	T325S	probably benign	Het
Trpm1	G	A	7: 63,890,330 (GRCm39)	V978M	probably damaging	Het
Wdr12	A	T	1: 60,133,670 (GRCm39)	D19E	probably benign	Het
Wdr35	G	A	12: 9,055,773 (GRCm39)	V482I	probably benign	Het
Zer1	T	C	2: 29,991,496 (GRCm39)		probably null	Het
Zfp503	T	C	14: 22,036,079 (GRCm39)	D279G	probably benign	Het
Zfp870	A	T	17: 33,102,736 (GRCm39)	C198S	possibly damaging	Het
Zftraf1	C	T	15: 76,532,386 (GRCm39)	D241N	probably benign	Het
Zfyve26	C	T	12: 79,334,581 (GRCm39)	E146K	probably benign	Het
Zkscan6	T	C	11: 65,719,357 (GRCm39)	V459A	probably 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
R6468:Prep	UTSW	10	44,991,203 (GRCm39)	missense	probably damaging	1.00
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
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'- TGAGCTTTGTAGGCAAATGGTAATC -3'
(R):5'- TTCTGCCGAAAAGCTCTCGC -3'

Sequencing Primer
(F):5'- GGTAATCAGAAGTTACGTGTCTTTC -3'
(R):5'- TCTCCACCCAGCTTGCTGG -3'

Posted On

2019-10-07