Mutagenetix > Incidental Mutation

Incidental Mutation 'R7553:Prep'

584564

Institutional Source

Beutler Lab

Gene Symbol

Prep

Ensembl Gene

ENSMUSG00000019849

Gene Name

prolyl endopeptidase

Synonyms

Pop, D10Wsu136e, prolyl oligopeptidase

MMRRC Submission

045622-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7553 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

44943312-45038847 bp(+) (GRCm39)

Type of Mutation

makesense

DNA Base Change (assembly)

T to C at 45034620 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Stop codon to Glutamine at position 711 (*711Q)

Ref Sequence

ENSEMBL: ENSMUSP00000097444 (fasta)

Gene Model

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

AlphaFold

Q9QUR6

Predicted Effect

probably null
Transcript: ENSMUST00000099858
AA Change: *711Q

SMART Domains

Protein: ENSMUSP00000097444
Gene: ENSMUSG00000019849
AA Change: *711Q

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: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

98% (62/63)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc6	A	G	7: 45,648,545 (GRCm39)	L649P	probably damaging	Het
Acad10	T	C	5: 121,777,318 (GRCm39)	Y371C	probably damaging	Het
Avp	A	G	2: 130,423,098 (GRCm39)	V71A	probably damaging	Het
Bhmt	C	T	13: 93,756,589 (GRCm39)		probably null	Het
Capn15	T	C	17: 26,179,738 (GRCm39)	E874G	probably damaging	Het
Capn5	A	G	7: 97,773,231 (GRCm39)	F591S	probably damaging	Het
Ccne2	A	T	4: 11,201,348 (GRCm39)	Q292L	probably benign	Het
Cd96	T	G	16: 45,872,384 (GRCm39)	T406P	probably damaging	Het
Csnk1e	G	A	15: 79,310,566 (GRCm39)	A153V	probably damaging	Het
Dlk1	G	A	12: 109,420,889 (GRCm39)	V15I	unknown	Het
Dmbt1	A	G	7: 130,706,597 (GRCm39)	N1372S	unknown	Het
Dntt	A	T	19: 41,017,926 (GRCm39)	R17W	probably damaging	Het
Erich3	G	T	3: 154,439,137 (GRCm39)	A260S	probably benign	Het
Foxp2	C	T	6: 15,437,881 (GRCm39)	S669L	unknown	Het
Gm40460	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 141,794,450 (GRCm39)		probably benign	Het
Grid2	A	G	6: 64,053,925 (GRCm39)	K375E	possibly damaging	Het
Grin2b	C	T	6: 135,749,394 (GRCm39)	G603S	possibly damaging	Het
Hexb	C	T	13: 97,334,681 (GRCm39)	R30Q	probably benign	Het
Homer3	A	T	8: 70,742,774 (GRCm39)	T162S	probably benign	Het
L3mbtl1	A	G	2: 162,790,151 (GRCm39)	E15G	probably benign	Het
Manea	A	T	4: 26,327,986 (GRCm39)	F352I	probably damaging	Het
Mcf2l	T	A	8: 13,047,268 (GRCm39)	M210K	probably benign	Het
Morc3	T	C	16: 93,667,824 (GRCm39)	L734P	probably damaging	Het
Mybpc2	A	G	7: 44,155,571 (GRCm39)	V894A	possibly damaging	Het
Myh4	T	A	11: 67,147,221 (GRCm39)	M1622K	probably damaging	Het
Myrf	A	G	19: 10,206,240 (GRCm39)	F59L	probably benign	Het
Ndst3	G	T	3: 123,350,709 (GRCm39)		probably null	Het
Nln	TGGTCCAGGTAAAACTGCCCCAGCCAATCAGGTACCTTGGATAGAGGTCCAGGTAAAACTGCCCCAGCCAATCAGGTACCTTGGATAGAGGTCCAGGTAGAACTGCCCCAGC	TGGTCCAGGTAAAACTGCCCCAGCCAATCAGGTACCTTGGATAGAGGTCCAGGTAGAACTGCCCCAGC	13: 104,186,924 (GRCm39)		probably null	Het
Nos3	A	T	5: 24,586,715 (GRCm39)	D986V	possibly damaging	Het
Nrp1	G	A	8: 129,158,468 (GRCm39)	A252T	probably damaging	Het
Nup205	G	T	6: 35,178,934 (GRCm39)	R668L	probably damaging	Het
Or51aa2	T	C	7: 103,188,363 (GRCm39)	Y26C	probably damaging	Het
Or5af2	T	A	11: 58,707,886 (GRCm39)	D17E	probably benign	Het
Or5p56	G	A	7: 107,589,682 (GRCm39)	V37I	probably benign	Het
Pcdhga1	T	A	18: 37,882,735 (GRCm39)		probably null	Het
Pck1	A	G	2: 172,998,860 (GRCm39)	I373V	probably benign	Het
Pde8b	T	C	13: 95,223,258 (GRCm39)	N227S	probably benign	Het
Pianp	T	G	6: 124,976,214 (GRCm39)	S8A	unknown	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 110,350,827 (GRCm39)		probably benign	Het
Pla2r1	A	T	2: 60,353,243 (GRCm39)	N239K	possibly damaging	Het
Pls1	T	A	9: 95,669,140 (GRCm39)	N27I	probably damaging	Het
Prkag3	A	G	1: 74,783,894 (GRCm39)	F330L	probably damaging	Het
Prss56	A	G	1: 87,111,261 (GRCm39)	D16G	probably benign	Het
Rad17	A	T	13: 100,769,794 (GRCm39)	F255Y	probably damaging	Het
Rap1gap2	T	C	11: 74,326,548 (GRCm39)	E173G	probably damaging	Het
Retreg3	C	T	11: 100,997,216 (GRCm39)	R88H	possibly damaging	Het
Rhag	G	A	17: 41,139,286 (GRCm39)	G74R	probably damaging	Het
Rybp	A	G	6: 100,209,220 (GRCm39)	S201P	possibly damaging	Het
S100a10	G	A	3: 93,471,602 (GRCm39)	C62Y	probably benign	Het
Scgb2b3	T	A	7: 31,059,673 (GRCm39)	S34C	possibly damaging	Het
Serpind1	A	G	16: 17,154,539 (GRCm39)	D122G	probably benign	Het
Setdb1	A	G	3: 95,254,076 (GRCm39)	L242P	probably damaging	Het
Slc14a2	T	A	18: 78,198,803 (GRCm39)	I776F	probably damaging	Het
Slc9a1	A	G	4: 133,139,580 (GRCm39)	E266G	probably damaging	Het
Stard9	A	T	2: 120,524,289 (GRCm39)		probably null	Het
Stpg2	A	G	3: 138,924,098 (GRCm39)	Y167C	probably damaging	Het
Tex264	T	C	9: 106,536,335 (GRCm39)	E274G	probably damaging	Het
Tigd2	G	A	6: 59,188,564 (GRCm39)	S477N	probably benign	Het
Urb1	A	G	16: 90,589,752 (GRCm39)	L343P	probably damaging	Het
Vars2	A	T	17: 35,975,680 (GRCm39)	C246S	possibly damaging	Het
Vil1	G	A	1: 74,465,891 (GRCm39)		probably null	Het
Vmn2r61	C	G	7: 41,916,205 (GRCm39)	L273V	not run	Het
Vmn2r-ps158	T	G	7: 42,697,447 (GRCm39)	C835G	probably damaging	Het
Zfp37	C	A	4: 62,110,236 (GRCm39)	G317V	probably damaging	Het
Zfp760	A	G	17: 21,941,872 (GRCm39)	K349R	possibly damaging	Het
Zyx	A	T	6: 42,327,408 (GRCm39)	E69V	probably null	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
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
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'- ACCCTTCAGTACATCGTGGG -3'
(R):5'- CCCTTTTAAAGATATGTGCCTGG -3'

Sequencing Primer
(F):5'- AGTACATCGTGGGCCGCAG -3'
(R):5'- CAAAACATCAAGGGCTTGCTAG -3'

Posted On

2019-10-17