Mutagenetix > Incidental Mutation

Incidental Mutation 'R5888:Prep'

457809

Institutional Source

Beutler Lab

Gene Symbol

Prep

Ensembl Gene

ENSMUSG00000019849

Gene Name

prolyl endopeptidase

Synonyms

Pop, D10Wsu136e, prolyl oligopeptidase

MMRRC Submission

044089-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5888 (G1)

Quality Score

177

Status

Validated

Chromosome

Chromosomal Location

44943312-45038847 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 44943460 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Tyrosine at position 12 (D12Y)

Ref Sequence

ENSEMBL: ENSMUSP00000097444 (fasta)

Gene Model

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

AlphaFold

Q9QUR6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000099858
AA Change: D12Y

PolyPhen 2 Score 0.735 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000097444
Gene: ENSMUSG00000019849
AA Change: D12Y

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

0.4052

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.9%

Validation Efficiency

94% (96/102)

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: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy1	T	A	11: 7,089,095 (GRCm39)	V503E	possibly damaging	Het
Alk	C	A	17: 72,181,938 (GRCm39)	V1362L	probably damaging	Het
Ankrd55	T	A	13: 112,492,453 (GRCm39)	I208N	possibly damaging	Het
Asap2	T	A	12: 21,268,191 (GRCm39)	I319N	probably damaging	Het
Atp11b	T	C	3: 35,891,696 (GRCm39)	I1036T	probably benign	Het
B4gat1	T	C	19: 5,089,560 (GRCm39)	F186L	probably benign	Het
C3	T	A	17: 57,521,831 (GRCm39)	T1079S	probably damaging	Het
Cacul1	G	T	19: 60,525,902 (GRCm39)	T287K	possibly damaging	Het
Cbr3	G	C	16: 93,487,614 (GRCm39)	G266R	probably damaging	Het
Cd63	T	A	10: 128,748,160 (GRCm39)		probably null	Het
Chd7	G	A	4: 8,866,382 (GRCm39)	M851I	probably damaging	Het
Chst13	T	A	6: 90,286,554 (GRCm39)	H136L	probably benign	Het
Cyp2d22	T	C	15: 82,258,014 (GRCm39)	T179A	probably benign	Het
Dclre1b	A	T	3: 103,711,053 (GRCm39)	V286E	probably damaging	Het
Defb45	G	A	2: 152,435,154 (GRCm39)		probably benign	Het
Dlg1	T	C	16: 31,610,704 (GRCm39)		probably null	Het
Dock3	A	G	9: 106,901,002 (GRCm39)	V321A	probably benign	Het
Dytn	A	T	1: 63,716,396 (GRCm39)	V59E	possibly damaging	Het
Efcab3	T	C	11: 104,612,227 (GRCm39)		probably benign	Het
Eif2ak1	A	G	5: 143,823,733 (GRCm39)	I393M	probably damaging	Het
Fam83g	A	T	11: 61,593,420 (GRCm39)	E318V	probably benign	Het
Fbxo34	T	A	14: 47,767,176 (GRCm39)	F179I	probably damaging	Het
Fmo5	T	A	3: 97,549,041 (GRCm39)	Y230N	probably benign	Het
Fzd9	T	G	5: 135,278,317 (GRCm39)		probably null	Het
Gata2	T	C	6: 88,177,722 (GRCm39)	S251P	probably benign	Het
Gigyf1	A	G	5: 137,523,959 (GRCm39)	D1043G	probably damaging	Het
Gm10322	T	A	10: 59,452,125 (GRCm39)	S81T	probably benign	Het
Gm15517	A	T	7: 43,910,066 (GRCm39)		probably benign	Het
Haus4	T	C	14: 54,781,676 (GRCm39)	T232A	probably benign	Het
Hgfac	A	T	5: 35,202,751 (GRCm39)	H417L	probably damaging	Het
Iqgap2	T	C	13: 95,772,118 (GRCm39)	K1354E	possibly damaging	Het
Kcnk12	C	A	17: 88,054,077 (GRCm39)	R195L	probably benign	Het
Kcnn2	A	T	18: 45,725,412 (GRCm39)	I303F	probably damaging	Het
Kcnt1	T	C	2: 25,798,122 (GRCm39)	F879S	probably damaging	Het
Kndc1	T	C	7: 139,475,133 (GRCm39)	F11L	probably benign	Het
Kpna7	A	G	5: 144,926,605 (GRCm39)	F449S	probably damaging	Het
Krt77	G	T	15: 101,773,888 (GRCm39)	N255K	probably benign	Het
Lair1	A	T	7: 4,013,844 (GRCm39)	D134E	probably damaging	Het
Loxhd1	T	C	18: 77,490,211 (GRCm39)	V1318A	probably damaging	Het
Marchf10	A	T	11: 105,292,972 (GRCm39)	V145D	possibly damaging	Het
Mcpt1	T	A	14: 56,256,969 (GRCm39)	M169K	probably benign	Het
Mdc1	T	A	17: 36,158,712 (GRCm39)	V364E	probably benign	Het
Mfsd11	T	C	11: 116,762,210 (GRCm39)	F270S	probably damaging	Het
Mfsd4b2	T	G	10: 39,798,031 (GRCm39)	D108A	probably benign	Het
Mink1	A	T	11: 70,500,885 (GRCm39)		probably benign	Het
Mmp25	T	C	17: 23,850,048 (GRCm39)	Y504C	probably damaging	Het
Ms4a13	C	T	19: 11,168,870 (GRCm39)	V52I	probably benign	Het
Msh4	C	T	3: 153,573,360 (GRCm39)		probably null	Het
Muc5b	T	G	7: 141,412,158 (GRCm39)	S1701R	unknown	Het
Naalad2	A	T	9: 18,241,937 (GRCm39)	S656T	probably benign	Het
Ncapd2	T	C	6: 125,164,052 (GRCm39)	Y64C	probably damaging	Het
Ncapg2	T	A	12: 116,389,420 (GRCm39)	S347T	possibly damaging	Het
Ndufb11b	T	C	15: 81,864,872 (GRCm39)	S38P	probably benign	Het
Nipal4	T	C	11: 46,042,166 (GRCm39)	T172A	probably damaging	Het
Nrros	T	C	16: 31,961,905 (GRCm39)	K652R	probably benign	Het
Nrxn3	G	T	12: 89,478,855 (GRCm39)	A983S	possibly damaging	Het
Or4a76	T	A	2: 89,461,143 (GRCm39)	Y33F	probably damaging	Het
Or4ac1-ps1	T	C	2: 88,370,588 (GRCm39)		noncoding transcript	Het
Or4c115	T	A	2: 88,928,269 (GRCm39)	M1L	probably damaging	Het
Or4k77	T	C	2: 111,199,088 (GRCm39)	M37T	probably benign	Het
Or51m1	A	G	7: 103,578,239 (GRCm39)	T70A	possibly damaging	Het
Or8g24	A	T	9: 38,989,263 (GRCm39)	Y259*	probably null	Het
Or8k37	A	C	2: 86,469,488 (GRCm39)	L188R	probably damaging	Het
P2rx4	T	A	5: 122,857,228 (GRCm39)	S155T	probably benign	Het
P2rx4	T	G	5: 122,865,271 (GRCm39)	Y299D	probably damaging	Het
Pcsk6	A	T	7: 65,693,372 (GRCm39)	L7F	probably null	Het
Pdss2	T	C	10: 43,097,793 (GRCm39)		silent	Het
Pfkl	A	G	10: 77,827,204 (GRCm39)	V494A	possibly damaging	Het
Prg4	A	G	1: 150,328,101 (GRCm39)	F188S	probably damaging	Het
Ripor3	T	C	2: 167,839,207 (GRCm39)	Y98C	probably damaging	Het
Rnf216	T	A	5: 143,054,069 (GRCm39)		probably null	Het
Rnf24	A	G	2: 131,164,165 (GRCm39)		probably benign	Het
Rps18-ps6	G	A	13: 97,896,901 (GRCm39)	R66*	probably null	Het
Scn3a	A	G	2: 65,327,742 (GRCm39)	M916T	probably benign	Het
Scnm1	T	C	3: 95,037,596 (GRCm39)	I157V	probably benign	Het
Sh2b3	C	G	5: 121,967,084 (GRCm39)	R10P	possibly damaging	Het
Slc25a27	T	C	17: 43,960,585 (GRCm39)	D211G	probably damaging	Het
Slc36a4	A	T	9: 15,638,324 (GRCm39)	Y250F	probably damaging	Het
Slc4a1	T	A	11: 102,247,351 (GRCm39)	E448V	probably damaging	Het
Slit1	C	A	19: 41,731,735 (GRCm39)	C38F	probably damaging	Het
Spock3	T	A	8: 63,808,334 (GRCm39)	N410K	unknown	Het
Supt20	G	T	3: 54,619,628 (GRCm39)	W370L	probably benign	Het
Tas2r139	T	A	6: 42,118,430 (GRCm39)	N187K	probably damaging	Het
Tbc1d9b	G	A	11: 50,031,311 (GRCm39)	V111I	probably benign	Het
Thsd7b	T	A	1: 130,138,057 (GRCm39)	Y1578*	probably null	Het
Tln2	T	A	9: 67,136,685 (GRCm39)	I1267F	probably damaging	Het
Tnk2	G	A	16: 32,490,185 (GRCm39)	V363I	probably damaging	Het
Ttc32	A	G	12: 9,085,870 (GRCm39)	K139R	possibly damaging	Het
Vmn1r30	G	C	6: 58,412,550 (GRCm39)	T94S	possibly damaging	Het
Vmn1r90	G	A	7: 14,295,780 (GRCm39)	T106I	probably damaging	Het
Zfp677	T	A	17: 21,618,520 (GRCm39)	C526S	probably damaging	Het
Zfp831	T	G	2: 174,485,420 (GRCm39)	S32A	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
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
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'- AAGTTTTCCTTCCTGGGCGC -3'
(R):5'- AAGCACAGGGGTACGTTCTG -3'

Sequencing Primer
(F):5'- GACAGCGTCTTCCTGCTTGG -3'
(R):5'- GTACGTTCTGGCTGCCCAC -3'

Posted On

2017-02-15