Mutagenetix > Incidental Mutation

Incidental Mutation 'R7466:Prep'

578786

Institutional Source

Beutler Lab

Gene Symbol

Prep

Ensembl Gene

ENSMUSG00000019849

Gene Name

prolyl endopeptidase

Synonyms

prolyl oligopeptidase, Pop, D10Wsu136e

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7466 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

45067203-45167198 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 45150438 bp (GRCm38)

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: 35,088,741	K203*	probably null	Het
Akr1c13	T	C	13: 4,192,437		probably benign	Het
Amer3	A	G	1: 34,587,993	S438G	probably damaging	Het
Aqp9	T	A	9: 71,163,261		probably null	Het
Art4	G	T	6: 136,854,850	H98N	probably damaging	Het
Bdh1	T	C	16: 31,447,604	S70P	probably benign	Het
Ccdc61	A	C	7: 18,891,105	Y503D	probably damaging	Het
Cd163l1	T	C	7: 140,220,706		probably null	Het
Cd180	A	T	13: 102,704,995	N183I	probably damaging	Het
Cd200r2	C	T	16: 44,909,174	A64V	probably damaging	Het
Ceacam9	A	C	7: 16,723,855	K98Q	probably benign	Het
Cep44	AACGC	A	8: 56,540,983		probably null	Het
Cfap77	G	T	2: 28,955,613	D247E	probably benign	Het
Cftr	T	C	6: 18,227,973	M388T	probably benign	Het
Chrnb1	G	A	11: 69,784,650	H493Y	probably damaging	Het
Ckap2	A	C	8: 22,177,386	M153R	probably benign	Het
Cnot6l	A	G	5: 96,131,128	V77A	probably benign	Het
Col12a1	C	T	9: 79,655,407	E1798K	possibly damaging	Het
Cth	T	A	3: 157,924,885	D49V	probably benign	Het
Ctnnb1	T	C	9: 120,955,416	S425P	probably damaging	Het
Ctnnd1	T	C	2: 84,610,785	N690S	probably benign	Het
Cyhr1	C	T	15: 76,648,186	D241N	probably benign	Het
Dennd4c	A	G	4: 86,774,331	D26G	probably damaging	Het
Dlg5	G	A	14: 24,245,212	P80L	probably damaging	Het
Eef2k	A	G	7: 120,903,484		probably null	Het
Ephb2	C	T	4: 136,659,065	R791H	probably damaging	Het
Erh	T	C	12: 80,640,983	Y22C	probably benign	Het
F5	C	T	1: 164,193,328	T1124I	possibly damaging	Het
Fam220a	T	A	5: 143,563,471	C213S	possibly damaging	Het
Fat2	G	T	11: 55,310,432	N605K	probably damaging	Het
Ganab	C	A	19: 8,914,569	S780*	probably null	Het
Gbgt1	C	T	2: 28,502,207	P67S	probably damaging	Het
Gm17190	G	T	13: 96,082,779	G208*	probably null	Het
Grhl2	A	G	15: 37,291,616	Y316C	probably damaging	Het
H2-T10	T	C	17: 36,120,849	T38A	probably benign	Het
Ins1	A	G	19: 52,264,420		probably benign	Het
Ippk	T	C	13: 49,432,467		probably null	Het
Klc4	T	A	17: 46,639,910	I258F	probably benign	Het
Manba	C	A	3: 135,542,393	L348I	probably benign	Het
Mgam	A	G	6: 40,744,789	N347S	probably benign	Het
Myo18b	T	C	5: 112,723,892	T2108A	probably benign	Het
Naip5	A	T	13: 100,221,986	L914*	probably null	Het
Nsa2	C	T	13: 97,131,220	A242T	probably benign	Het
Nsd2	G	A	5: 33,882,147	W834*	probably null	Het
Olfr1134	T	C	2: 87,656,396	N175S	possibly damaging	Het
Olfr1419	T	A	19: 11,870,316	D300V	possibly damaging	Het
Olfr285	T	C	15: 98,313,380	M57V	probably damaging	Het
Olfr469	A	T	7: 107,822,922	C182*	probably null	Het
Pam	A	T	1: 97,842,247	D599E	probably damaging	Het
Phf20l1	A	G	15: 66,636,884	K864R	probably damaging	Het
Plcl2	A	G	17: 50,608,468	D835G	probably damaging	Het
Ppm1m	C	A	9: 106,196,157	A329S	probably damaging	Het
Prkcb	A	T	7: 122,516,844	N182I	probably damaging	Het
Prkcz	A	G	4: 155,271,602	F355S	probably damaging	Het
Psg20	C	T	7: 18,684,467	S125N	probably benign	Het
Psmd12	A	G	11: 107,492,057	D234G	probably benign	Het
Pvrig	A	T	5: 138,342,008	M14L	probably benign	Het
Rabgap1l	C	T	1: 160,226,484		probably null	Het
Rfc1	A	T	5: 65,275,426	C764S	probably damaging	Het
Ryr3	T	C	2: 112,926,957	D351G	probably benign	Het
Serpinb9g	T	C	13: 33,495,167	F340S	probably benign	Het
Sirpb1c	C	A	3: 15,832,266	L315F	probably damaging	Het
Slc24a1	C	G	9: 64,928,404	E814Q	unknown	Het
Slc26a11	A	T	11: 119,374,502	Q355L	probably damaging	Het
Sp100	C	T	1: 85,707,239	L483F	possibly damaging	Het
St5	A	G	7: 109,525,346	L1096P	probably damaging	Het
Ston1	T	A	17: 88,635,901	M245K	probably benign	Het
Swap70	T	A	7: 110,274,772	D442E	probably benign	Het
Syne2	T	A	12: 76,046,186	V450D	possibly damaging	Het
Tbck	T	A	3: 132,752,563	N651K	probably damaging	Het
Timd4	A	T	11: 46,817,758	T204S	probably benign	Het
Tmem102	A	G	11: 69,804,885	L87P	probably damaging	Het
Tmem55a	T	A	4: 14,912,477	Y195*	probably null	Het
Tmprss11e	T	A	5: 86,709,480	T325S	probably benign	Het
Trpm1	G	A	7: 64,240,582	V978M	probably damaging	Het
Wdr12	A	T	1: 60,094,511	D19E	probably benign	Het
Wdr35	G	A	12: 9,005,773	V482I	probably benign	Het
Wdr63	T	C	3: 146,055,618	D661G	probably benign	Het
Zer1	T	C	2: 30,101,484		probably null	Het
Zfp503	T	C	14: 21,986,011	D279G	probably benign	Het
Zfp870	A	T	17: 32,883,762	C198S	possibly damaging	Het
Zfyve26	C	T	12: 79,287,807	E146K	probably benign	Het
Zkscan6	T	C	11: 65,828,531	V459A	probably damaging	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
R7492:Prep	UTSW	10	45120814	missense	probably damaging	1.00
R7553:Prep	UTSW	10	45158524	makesense	probably null
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'- TGAGCTTTGTAGGCAAATGGTAATC -3'
(R):5'- TTCTGCCGAAAAGCTCTCGC -3'

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

Posted On

2019-10-07