Mutagenetix > Incidental Mutation

Incidental Mutation 'R7553:Prep'

584564

Institutional Source

Beutler Lab

Gene Symbol

Prep

Ensembl Gene

ENSMUSG00000019849

Gene Name

prolyl endopeptidase

Synonyms

prolyl oligopeptidase, Pop, D10Wsu136e

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

45067203-45167198 bp(+) (GRCm38)

Type of Mutation

makesense

DNA Base Change (assembly)

T to C at 45158524 bp (GRCm38)

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: 45,999,121	L649P	probably damaging	Het
Acad10	T	C	5: 121,639,255	Y371C	probably damaging	Het
Avp	A	G	2: 130,581,178	V71A	probably damaging	Het
Bhmt	C	T	13: 93,620,081		probably null	Het
Capn15	T	C	17: 25,960,764	E874G	probably damaging	Het
Capn5	A	G	7: 98,124,024	F591S	probably damaging	Het
Ccne2	A	T	4: 11,201,348	Q292L	probably benign	Het
Cd96	T	G	16: 46,052,021	T406P	probably damaging	Het
Csnk1e	G	A	15: 79,426,366	A153V	probably damaging	Het
Dlk1	G	A	12: 109,454,963	V15I	unknown	Het
Dmbt1	A	G	7: 131,104,867	N1372S	unknown	Het
Dntt	A	T	19: 41,029,487	R17W	probably damaging	Het
Erich3	G	T	3: 154,733,500	A260S	probably benign	Het
Foxp2	C	T	6: 15,437,882	S669L	unknown	Het
Gm40460	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 142,240,713		probably benign	Het
Gm9268	T	G	7: 43,048,023	C835G	probably damaging	Het
Grid2	A	G	6: 64,076,941	K375E	possibly damaging	Het
Grin2b	C	T	6: 135,772,396	G603S	possibly damaging	Het
Hexb	C	T	13: 97,198,173	R30Q	probably benign	Het
Homer3	A	T	8: 70,290,124	T162S	probably benign	Het
L3mbtl1	A	G	2: 162,948,231	E15G	probably benign	Het
Manea	A	T	4: 26,327,986	F352I	probably damaging	Het
Mcf2l	T	A	8: 12,997,268	M210K	probably benign	Het
Morc3	T	C	16: 93,870,936	L734P	probably damaging	Het
Mybpc2	A	G	7: 44,506,147	V894A	possibly damaging	Het
Myh4	T	A	11: 67,256,395	M1622K	probably damaging	Het
Myrf	A	G	19: 10,228,876	F59L	probably benign	Het
Ndst3	G	T	3: 123,557,060		probably null	Het
Nln	TGGTCCAGGTAAAACTGCCCCAGCCAATCAGGTACCTTGGATAGAGGTCCAGGTAAAACTGCCCCAGCCAATCAGGTACCTTGGATAGAGGTCCAGGTAGAACTGCCCCAGC	TGGTCCAGGTAAAACTGCCCCAGCCAATCAGGTACCTTGGATAGAGGTCCAGGTAGAACTGCCCCAGC	13: 104,050,416		probably null	Het
Nos3	A	T	5: 24,381,717	D986V	possibly damaging	Het
Nrp1	G	A	8: 128,431,987	A252T	probably damaging	Het
Nup205	G	T	6: 35,201,999	R668L	probably damaging	Het
Olfr313	T	A	11: 58,817,060	D17E	probably benign	Het
Olfr477	G	A	7: 107,990,475	V37I	probably benign	Het
Olfr612	T	C	7: 103,539,156	Y26C	probably damaging	Het
Pcdhga1	T	A	18: 37,749,682		probably null	Het
Pck1	A	G	2: 173,157,067	I373V	probably benign	Het
Pde8b	T	C	13: 95,086,750	N227S	probably benign	Het
Pianp	T	G	6: 124,999,251	S8A	unknown	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 109,624,195		probably benign	Het
Pla2r1	A	T	2: 60,522,899	N239K	possibly damaging	Het
Pls1	T	A	9: 95,787,087	N27I	probably damaging	Het
Prkag3	A	G	1: 74,744,735	F330L	probably damaging	Het
Prss56	A	G	1: 87,183,539	D16G	probably benign	Het
Rad17	A	T	13: 100,633,286	F255Y	probably damaging	Het
Rap1gap2	T	C	11: 74,435,722	E173G	probably damaging	Het
Retreg3	C	T	11: 101,106,390	R88H	possibly damaging	Het
Rhag	G	A	17: 40,828,395	G74R	probably damaging	Het
Rybp	A	G	6: 100,232,259	S201P	possibly damaging	Het
S100a10	G	A	3: 93,564,295	C62Y	probably benign	Het
Scgb2b3	T	A	7: 31,360,248	S34C	possibly damaging	Het
Serpind1	A	G	16: 17,336,675	D122G	probably benign	Het
Setdb1	A	G	3: 95,346,765	L242P	probably damaging	Het
Slc14a2	T	A	18: 78,155,588	I776F	probably damaging	Het
Slc9a1	A	G	4: 133,412,269	E266G	probably damaging	Het
Stard9	A	T	2: 120,693,808		probably null	Het
Stpg2	A	G	3: 139,218,337	Y167C	probably damaging	Het
Tex264	T	C	9: 106,659,136	E274G	probably damaging	Het
Tigd2	G	A	6: 59,211,579	S477N	probably benign	Het
Urb1	A	G	16: 90,792,864	L343P	probably damaging	Het
Vars2	A	T	17: 35,664,788	C246S	possibly damaging	Het
Vil1	G	A	1: 74,426,732		probably null	Het
Vmn2r61	C	G	7: 42,266,781	L273V	not run	Het
Zfp37	C	A	4: 62,191,999	G317V	probably damaging	Het
Zfp760	A	G	17: 21,722,891	K349R	possibly damaging	Het
Zyx	A	T	6: 42,350,474	E69V	probably null	Het

Other mutations in Prep

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00654:Prep	APN	10	45115173	missense	probably damaging	1.00
IGL01412:Prep	APN	10	45153112	missense	probably damaging	1.00
IGL01577:Prep	APN	10	45072048	splice site	probably benign
IGL02751:Prep	APN	10	45115186	missense	probably damaging	1.00
IGL02754:Prep	APN	10	45067332	start codon destroyed	probably null	0.23
IGL02875:Prep	APN	10	45158433	missense	probably damaging	1.00
IGL02957:Prep	APN	10	45126030	missense	probably benign	0.44
R0008:Prep	UTSW	10	45115078	missense	probably benign	0.17
R0008:Prep	UTSW	10	45115078	missense	probably benign	0.17
R0167:Prep	UTSW	10	45158230	critical splice acceptor site	probably null
R0396:Prep	UTSW	10	45092676	missense	probably damaging	1.00
R0828:Prep	UTSW	10	45155525	missense	probably benign	0.01
R1309:Prep	UTSW	10	45126026	missense	probably benign
R2166:Prep	UTSW	10	45092655	splice site	probably benign
R4020:Prep	UTSW	10	45092798	splice site	probably benign
R4058:Prep	UTSW	10	45158371	missense	probably benign	0.29
R4162:Prep	UTSW	10	45067362	missense	possibly damaging	0.96
R4163:Prep	UTSW	10	45067340	missense	probably benign
R4163:Prep	UTSW	10	45067362	missense	possibly damaging	0.96
R4328:Prep	UTSW	10	45120649	missense	probably benign
R4343:Prep	UTSW	10	45120770	missense	probably damaging	0.99
R4493:Prep	UTSW	10	45120819	missense	probably benign	0.38
R4495:Prep	UTSW	10	45120819	missense	probably benign	0.38
R5192:Prep	UTSW	10	45153111	missense	probably benign	0.28
R5569:Prep	UTSW	10	45097437	missense	probably benign
R5888:Prep	UTSW	10	45067364	missense	possibly damaging	0.74
R5999:Prep	UTSW	10	45072129	critical splice donor site	probably null
R6468:Prep	UTSW	10	45115107	missense	probably damaging	1.00
R6556:Prep	UTSW	10	45158314	frame shift	probably null
R6696:Prep	UTSW	10	45153078	missense	probably damaging	1.00
R6737:Prep	UTSW	10	45097495	missense	possibly damaging	0.62
R6762:Prep	UTSW	10	45148123	critical splice donor site	probably null
R6830:Prep	UTSW	10	45097501	missense	probably benign	0.01
R7105:Prep	UTSW	10	45126063	missense	probably benign
R7193:Prep	UTSW	10	45092699	missense	probably benign	0.00
R7466:Prep	UTSW	10	45150438	missense	probably benign	0.32
R7492:Prep	UTSW	10	45120814	missense	probably damaging	1.00
R7860:Prep	UTSW	10	45091012	missense	probably damaging	1.00
R8544:Prep	UTSW	10	45153127	missense	probably damaging	1.00
R8808:Prep	UTSW	10	45095156	nonsense	probably null
R8894:Prep	UTSW	10	45158524	makesense	probably null
R9055:Prep	UTSW	10	45115195	missense	probably benign	0.01
R9316:Prep	UTSW	10	45091096	missense	probably damaging	1.00
R9488:Prep	UTSW	10	45120711	missense
Z1176:Prep	UTSW	10	45150468	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