Mutagenetix > Incidental Mutation

Incidental Mutation 'R1638:Prepl'

173342

Institutional Source

Beutler Lab

Gene Symbol

Prepl

Ensembl Gene

ENSMUSG00000024127

Gene Name

prolyl endopeptidase-like

Synonyms

9530014L06Rik, D030028O16Rik, 2810457N15Rik

MMRRC Submission

039674-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.200) question?

Stock #

R1638 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

85370898-85397669 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 85379509 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Arginine at position 393 (M393R)

Ref Sequence

ENSEMBL: ENSMUSP00000130967 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000072406] [ENSMUST00000171795]

AlphaFold

Q8C167

Predicted Effect

probably benign
Transcript: ENSMUST00000072406
AA Change: M306R

PolyPhen 2 Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000072239
Gene: ENSMUSG00000024127
AA Change: M306R

Domain	Start	End	E-Value	Type
Pfam:Peptidase_S9_N	15	339	7.4e-28	PFAM
Pfam:Peptidase_S9	399	623	1.3e-35	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000171795
AA Change: M393R

PolyPhen 2 Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000130967
Gene: ENSMUSG00000024127
AA Change: M393R

Domain	Start	End	E-Value	Type
Pfam:Peptidase_S9_N	86	428	5.2e-30	PFAM
Pfam:Peptidase_S9	486	710	2e-35	PFAM

Meta Mutation Damage Score

0.1944

Coding Region Coverage

1x: 99.0%
3x: 97.9%
10x: 94.9%
20x: 87.8%

Validation Efficiency

99% (79/80)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the prolyl oligopeptidase subfamily of serine peptidases. Mutations in this gene have been associated with hypotonia-cystinuria syndrome, also known as the 2p21 deletion syndrome. Several alternatively spliced transcript variants encoding either the same or different isoforms have been described for this gene.[provided by RefSeq, Jan 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired growth and neonatal hypotonia. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	C	A	6: 121,631,571 (GRCm39)	L623M	probably benign	Het
Adamts13	A	G	2: 26,886,595 (GRCm39)	E938G	possibly damaging	Het
Agfg1	A	T	1: 82,871,259 (GRCm39)	Q497L	probably damaging	Het
Ahnak	A	G	19: 8,986,813 (GRCm39)	H2699R	probably benign	Het
Antxrl	G	T	14: 33,792,453 (GRCm39)		probably null	Het
Apol7c	A	T	15: 77,410,418 (GRCm39)	V176E	probably damaging	Het
Arid5b	T	C	10: 68,113,777 (GRCm39)	N87D	possibly damaging	Het
Atp2c1	A	T	9: 105,309,897 (GRCm39)	I560N	probably damaging	Het
Atp2c2	T	C	8: 120,482,742 (GRCm39)	F868S	possibly damaging	Het
Blnk	G	C	19: 40,926,122 (GRCm39)	F326L	probably benign	Het
Bltp1	C	T	3: 37,089,961 (GRCm39)	R4130*	probably null	Het
Ckap2	C	T	8: 22,665,812 (GRCm39)	V412I	possibly damaging	Het
Clmn	A	G	12: 104,748,281 (GRCm39)	V422A	probably benign	Het
Ctnnal1	A	G	4: 56,813,856 (GRCm39)	S638P	probably benign	Het
Cyp2j5	T	C	4: 96,524,052 (GRCm39)	S327G	probably benign	Het
Dhx38	G	A	8: 110,280,177 (GRCm39)	T871M	probably damaging	Het
Dmxl1	A	T	18: 50,023,834 (GRCm39)	K1706*	probably null	Het
Dnah11	A	G	12: 117,979,154 (GRCm39)	L2648P	possibly damaging	Het
Elf2	G	A	3: 51,215,530 (GRCm39)	T60I	probably damaging	Het
Fam120b	T	A	17: 15,622,759 (GRCm39)	C246S	possibly damaging	Het
Fcho2	G	T	13: 98,882,403 (GRCm39)	T451K	possibly damaging	Het
Fzd9	T	A	5: 135,278,602 (GRCm39)	I428F	probably damaging	Het
Galnt13	T	A	2: 54,744,667 (GRCm39)	V122E	probably damaging	Het
Gm21738	T	A	14: 19,418,908 (GRCm38)	Y8F	probably benign	Het
Gnptab	A	G	10: 88,272,029 (GRCm39)	I940V	possibly damaging	Het
Gp2	A	G	7: 119,050,721 (GRCm39)		probably null	Het
Gpr6	A	G	10: 40,946,530 (GRCm39)	S351P	probably benign	Het
Gprin1	T	C	13: 54,887,689 (GRCm39)	E195G	possibly damaging	Het
Grm8	A	T	6: 28,125,882 (GRCm39)	Y81*	probably null	Het
Gtf3c3	A	T	1: 54,444,278 (GRCm39)	N703K	probably damaging	Het
Hhipl2	G	A	1: 183,208,921 (GRCm39)	V495I	probably benign	Het
Islr	G	A	9: 58,065,502 (GRCm39)		probably benign	Het
Lrrc36	T	C	8: 106,176,273 (GRCm39)	Y216H	possibly damaging	Het
Macroh2a1	T	A	13: 56,252,722 (GRCm39)	N87Y	probably damaging	Het
Me2	A	G	18: 73,906,205 (GRCm39)	I528T	probably benign	Het
Mecr	A	T	4: 131,585,127 (GRCm39)	I156F	possibly damaging	Het
Megf6	A	G	4: 154,346,967 (GRCm39)		probably benign	Het
Mn1	T	A	5: 111,569,435 (GRCm39)	L1135H	probably damaging	Het
Naip5	A	G	13: 100,349,177 (GRCm39)	S1384P	probably damaging	Het
Nav2	A	G	7: 49,102,213 (GRCm39)	N337S	probably benign	Het
Ndn	C	T	7: 61,998,256 (GRCm39)	P34L	probably benign	Het
Neb	A	T	2: 52,139,293 (GRCm39)	H3107Q	probably benign	Het
Nebl	A	G	2: 17,381,462 (GRCm39)	V738A	possibly damaging	Het
Nsd2	G	A	5: 34,039,464 (GRCm39)	R825Q	possibly damaging	Het
Nsun2	A	G	13: 69,775,705 (GRCm39)	N383S	probably damaging	Het
Ntrk3	A	T	7: 77,897,036 (GRCm39)	M667K	probably damaging	Het
Or10a48	A	C	7: 108,424,442 (GRCm39)	C255G	probably benign	Het
Or11h6	G	A	14: 50,880,565 (GRCm39)	V276M	possibly damaging	Het
Or1e29	A	G	11: 73,667,974 (GRCm39)	Y60H	possibly damaging	Het
Or6c2	A	T	10: 129,362,488 (GRCm39)	M131L	probably benign	Het
Pex6	T	C	17: 47,033,558 (GRCm39)	V633A	probably benign	Het
Phactr1	C	T	13: 43,110,147 (GRCm39)	T95M	probably damaging	Het
Pik3r4	A	G	9: 105,564,408 (GRCm39)	D1334G	probably damaging	Het
Pkhd1l1	A	C	15: 44,460,513 (GRCm39)	I4241L	probably benign	Het
Ppwd1	T	C	13: 104,356,771 (GRCm39)	E248G	probably damaging	Het
Ptpn6	T	C	6: 124,698,148 (GRCm39)	S532G	probably benign	Het
Rnase11	G	T	14: 51,287,058 (GRCm39)	H165Q	possibly damaging	Het
Sf1	A	G	19: 6,422,090 (GRCm39)	N172S	possibly damaging	Het
Shprh	T	A	10: 11,032,822 (GRCm39)	D269E	probably benign	Het
Slc16a1	T	C	3: 104,556,798 (GRCm39)	I61T	possibly damaging	Het
Slc38a2	A	C	15: 96,590,417 (GRCm39)	I309S	probably damaging	Het
Sry	C	G	Y: 2,663,149 (GRCm39)	Q170H	unknown	Het
Stk3	A	C	15: 35,008,454 (GRCm39)		probably null	Het
Tg	C	A	15: 66,568,015 (GRCm39)	C1306*	probably null	Het
Tnik	A	G	3: 28,719,889 (GRCm39)	M1254V	probably damaging	Het
U2surp	T	C	9: 95,366,280 (GRCm39)	E474G	possibly damaging	Het
Vmn1r224	T	A	17: 20,639,587 (GRCm39)	F55I	probably benign	Het
Vmn1r32	A	G	6: 66,529,939 (GRCm39)	I279T	possibly damaging	Het
Zc2hc1a	A	G	3: 7,581,543 (GRCm39)	D15G	probably benign	Het
Zfp827	C	A	8: 79,802,975 (GRCm39)	P516T	possibly damaging	Het
Zfyve9	A	T	4: 108,542,104 (GRCm39)		probably null	Het

Other mutations in Prepl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00708:Prepl	APN	17	85,385,935 (GRCm39)	missense	probably damaging	1.00
IGL01375:Prepl	APN	17	85,379,419 (GRCm39)	missense	possibly damaging	0.92
IGL01618:Prepl	APN	17	85,373,709 (GRCm39)	missense	probably damaging	1.00
IGL01633:Prepl	APN	17	85,379,444 (GRCm39)	missense	probably benign	0.03
IGL01730:Prepl	APN	17	85,388,603 (GRCm39)	missense	possibly damaging	0.82
IGL02728:Prepl	APN	17	85,378,010 (GRCm39)	missense	probably damaging	1.00
R0126:Prepl	UTSW	17	85,390,670 (GRCm39)	missense	probably benign	0.19
R0243:Prepl	UTSW	17	85,372,466 (GRCm39)	splice site	probably null
R1071:Prepl	UTSW	17	85,377,940 (GRCm39)	missense	probably damaging	1.00
R1437:Prepl	UTSW	17	85,395,785 (GRCm39)	missense	probably damaging	1.00
R1892:Prepl	UTSW	17	85,395,878 (GRCm39)	missense	possibly damaging	0.82
R1967:Prepl	UTSW	17	85,395,979 (GRCm39)	start codon destroyed	probably null	0.99
R4196:Prepl	UTSW	17	85,388,582 (GRCm39)	missense	probably benign
R4630:Prepl	UTSW	17	85,390,659 (GRCm39)	missense	probably benign	0.00
R4632:Prepl	UTSW	17	85,390,659 (GRCm39)	missense	probably benign	0.00
R4895:Prepl	UTSW	17	85,388,494 (GRCm39)	missense	probably damaging	1.00
R4932:Prepl	UTSW	17	85,385,932 (GRCm39)	missense	possibly damaging	0.66
R4969:Prepl	UTSW	17	85,395,902 (GRCm39)	missense	probably benign	0.00
R5954:Prepl	UTSW	17	85,372,077 (GRCm39)	missense	probably benign	0.04
R6259:Prepl	UTSW	17	85,377,859 (GRCm39)	missense	probably damaging	1.00
R6273:Prepl	UTSW	17	85,390,696 (GRCm39)	missense	probably benign	0.00
R7176:Prepl	UTSW	17	85,376,454 (GRCm39)	missense	probably benign	0.14
R7273:Prepl	UTSW	17	85,389,420 (GRCm39)	missense	probably benign	0.10
R7291:Prepl	UTSW	17	85,388,668 (GRCm39)	missense	probably benign	0.26
R8229:Prepl	UTSW	17	85,388,689 (GRCm39)	missense	probably benign	0.00
R8940:Prepl	UTSW	17	85,376,354 (GRCm39)	missense	probably damaging	0.98
R9017:Prepl	UTSW	17	85,376,366 (GRCm39)	missense	possibly damaging	0.61
R9158:Prepl	UTSW	17	85,383,379 (GRCm39)	missense	possibly damaging	0.82
R9608:Prepl	UTSW	17	85,376,321 (GRCm39)	missense	probably benign	0.02
Z1177:Prepl	UTSW	17	85,388,511 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- AGCTGAAGGCAGAGCTTACAACAC -3'
(R):5'- TGGGAAAATCATTCAGAGCATCCGC -3'

Sequencing Primer
(F):5'- ACAACACCTACCTTGCTTTTGG -3'
(R):5'- GGTCCTACTTCAGGAAGAGC -3'

Posted On

2014-04-24