Mutagenetix > Incidental Mutation

Incidental Mutation 'R7105:Prep'

551124

Institutional Source

Beutler Lab

Gene Symbol

Prep

Ensembl Gene

ENSMUSG00000019849

Gene Name

prolyl endopeptidase

Synonyms

Pop, D10Wsu136e, prolyl oligopeptidase

MMRRC Submission

045197-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7105 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

44943312-45038847 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 45002159 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 438 (I438N)

Ref Sequence

ENSEMBL: ENSMUSP00000097444 (fasta)

Gene Model

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

AlphaFold

Q9QUR6

Predicted Effect

probably benign
Transcript: ENSMUST00000099858
AA Change: I438N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000097444
Gene: ENSMUSG00000019849
AA Change: I438N

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

96% (65/68)

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
Abca13	T	A	11: 9,347,842 (GRCm39)	I3565N	probably damaging	Het
Adam8	T	C	7: 139,569,968 (GRCm39)	E99G	probably benign	Het
Adnp2	A	C	18: 80,171,366 (GRCm39)	H1014Q	possibly damaging	Het
Agbl4	T	A	4: 111,423,920 (GRCm39)	N315K	probably benign	Het
Ankrd33b	G	T	15: 31,305,214 (GRCm39)	N183K	probably damaging	Het
Arhgef39	A	G	4: 43,498,913 (GRCm39)	S113P	possibly damaging	Het
Bdp1	G	A	13: 100,206,689 (GRCm39)	P618S	probably damaging	Het
Bhlhe40	C	T	6: 108,641,997 (GRCm39)	P314S	possibly damaging	Het
Birc2	A	C	9: 7,819,442 (GRCm39)	I490S	probably damaging	Het
Blm	T	C	7: 80,149,516 (GRCm39)	I698V	probably benign	Het
C4b	G	A	17: 34,949,885 (GRCm39)	T1433M	possibly damaging	Het
Car12	A	G	9: 66,659,688 (GRCm39)	T238A	probably damaging	Het
Cend1	G	A	7: 141,007,565 (GRCm39)	P85L	probably benign	Het
Cftr	A	T	6: 18,318,971 (GRCm39)	D1337V	probably damaging	Het
Chsy3	T	A	18: 59,309,491 (GRCm39)	M248K	probably damaging	Het
Chtf8	A	G	8: 107,611,883 (GRCm39)	F352S	probably damaging	Het
Cimip4	T	A	15: 78,270,318 (GRCm39)	D150V	possibly damaging	Het
Csf2ra	T	C	19: 61,213,458 (GRCm39)	D384G	possibly damaging	Het
Ctnnbip1	T	C	4: 149,630,937 (GRCm39)	S59P	probably benign	Het
Cyth3	A	G	5: 143,693,027 (GRCm39)	N312D	probably benign	Het
Dtnb	T	C	12: 3,698,391 (GRCm39)		probably null	Het
Duox2	A	G	2: 122,120,033 (GRCm39)	S826P	possibly damaging	Het
Enthd1	C	T	15: 80,393,410 (GRCm39)	A273T	probably benign	Het
Gm3138	T	C	14: 15,632,304 (GRCm39)	V159A	possibly damaging	Het
Hhip	T	C	8: 80,701,638 (GRCm39)	D632G	probably benign	Het
Igfn1	A	T	1: 135,911,956 (GRCm39)	C114S	probably benign	Het
Islr2	T	C	9: 58,105,097 (GRCm39)	D765G	probably damaging	Het
Klf14	TCCCC	TCCC	6: 30,935,476 (GRCm39)		probably null	Het
Mapk12	G	A	15: 89,015,361 (GRCm39)	P362L	probably benign	Het
Msi1	T	G	5: 115,571,929 (GRCm39)	F96V	probably damaging	Het
Mthfd1l	T	C	10: 4,053,261 (GRCm39)	V870A	probably benign	Het
Nfat5	T	C	8: 108,095,823 (GRCm39)	S1355P	possibly damaging	Het
Oplah	T	C	15: 76,181,887 (GRCm39)	N1079D	probably damaging	Het
Or2ah1	G	T	2: 85,654,224 (GRCm39)	R303M	probably benign	Het
Osbpl1a	T	A	18: 12,900,020 (GRCm39)	I645F	probably benign	Het
Pank4	T	C	4: 155,064,624 (GRCm39)	S728P	probably benign	Het
Parp2	TTGCCATAAGTGCTAAATGAAGCC	T	14: 51,047,521 (GRCm39)		probably null	Het
Piezo1	A	G	8: 123,208,857 (GRCm39)	I2503T	unknown	Het
Plekhg6	A	G	6: 125,355,768 (GRCm39)	L12P	probably damaging	Het
Plekhs1	T	A	19: 56,465,647 (GRCm39)	F204Y	probably damaging	Het
Pramel26	T	C	4: 143,537,341 (GRCm39)	N330S	probably benign	Het
Pramel32	G	A	4: 88,548,339 (GRCm39)	S22F	probably damaging	Het
Prss58	T	C	6: 40,874,700 (GRCm39)	H47R	probably damaging	Het
Rad51ap2	T	G	12: 11,508,278 (GRCm39)	D733E	possibly damaging	Het
Robo1	A	T	16: 72,539,049 (GRCm39)	I31F	probably damaging	Het
Setd2	A	G	9: 110,377,328 (GRCm39)	Y381C	probably damaging	Het
Slc47a2	A	G	11: 61,233,269 (GRCm39)	V87A	probably benign	Het
Slc5a9	T	C	4: 111,755,892 (GRCm39)	N2S	probably benign	Het
Spata13	A	G	14: 60,991,319 (GRCm39)	D1024G	probably damaging	Het
Stat1	T	G	1: 52,190,408 (GRCm39)	N554K	probably benign	Het
Suclg2	T	C	6: 95,572,635 (GRCm39)	D110G	possibly damaging	Het
Sult1c2	T	A	17: 54,280,917 (GRCm39)		probably null	Het
Taf5l	A	G	8: 124,729,951 (GRCm39)	I246T	probably damaging	Het
Tcof1	A	T	18: 60,976,368 (GRCm39)	D80E	probably damaging	Het
Tmem233	T	C	5: 116,221,057 (GRCm39)	Y63C	probably damaging	Het
Tshz3	A	G	7: 36,469,181 (GRCm39)	E390G	probably damaging	Het
Ttn	T	C	2: 76,560,610 (GRCm39)	T29264A	possibly damaging	Het
Ubr5	T	C	15: 38,009,019 (GRCm39)	T1065A		Het
Vcp	A	G	4: 42,985,991 (GRCm39)	V341A	probably damaging	Het
Vmn1r176	A	T	7: 23,534,748 (GRCm39)	L135*	probably null	Het
Vmn1r57	T	A	7: 5,223,499 (GRCm39)	I8N	probably damaging	Het
Ythdc2	C	T	18: 44,967,630 (GRCm39)	P209S	probably damaging	Het
Zfp213	A	T	17: 23,777,178 (GRCm39)	V288D	probably benign	Het
Zfp362	T	C	4: 128,668,319 (GRCm39)	I418V	probably damaging	Het
Zfp707	C	A	15: 75,846,595 (GRCm39)	T215K		Het
Zfp957	G	C	14: 79,450,402 (GRCm39)	R466G	probably benign	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
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'- TTTGCACAGCCACCCAAATG -3'
(R):5'- TGCAGAGACCTAAGGACCTG -3'

Sequencing Primer
(F):5'- AAGGACCCTGATGGCTGCTAC -3'
(R):5'- TAAGGACCTGGCCCAGTG -3'

Posted On

2019-05-15