Mutagenetix > Incidental Mutation

Incidental Mutation 'R9017:Prepl'

686102

Institutional Source

Beutler Lab

Gene Symbol

Prepl

Ensembl Gene

ENSMUSG00000024127

Gene Name

prolyl endopeptidase-like

Synonyms

9530014L06Rik, D030028O16Rik, 2810457N15Rik

MMRRC Submission

068847-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.190) question?

Stock #

R9017 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

85370898-85397669 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 85376366 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 563 (V563M)

Ref Sequence

ENSEMBL: ENSMUSP00000130967 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024944] [ENSMUST00000072406] [ENSMUST00000171795]

AlphaFold

Q8C167

Predicted Effect

probably benign
Transcript: ENSMUST00000024944

SMART Domains

Protein: ENSMUSP00000024944
Gene: ENSMUSG00000024131

Domain	Start	End	E-Value	Type
transmembrane domain	87	109	N/A	INTRINSIC
Aamy	124	504	6.7e-110	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000072406
AA Change: V476M

PolyPhen 2 Score 0.614 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000072239
Gene: ENSMUSG00000024127
AA Change: V476M

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

possibly damaging
Transcript: ENSMUST00000171795
AA Change: V563M

PolyPhen 2 Score 0.614 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000130967
Gene: ENSMUSG00000024127
AA Change: V563M

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.3%

Validation Efficiency

100% (65/65)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrg7	T	C	16: 56,553,211 (GRCm39)	T629A	probably benign	Het
Afg3l2	A	G	18: 67,542,550 (GRCm39)	V632A	possibly damaging	Het
Ahnak	G	A	19: 8,987,487 (GRCm39)	E2924K	probably damaging	Het
Ampd1	A	G	3: 102,995,786 (GRCm39)	Y232C	probably benign	Het
Ank1	G	A	8: 23,606,264 (GRCm39)	G1219S	probably null	Het
Atp8b4	A	T	2: 126,275,841 (GRCm39)	N130K	probably benign	Het
Cdh15	T	C	8: 123,584,256 (GRCm39)		probably null	Het
Cep70	T	C	9: 99,181,829 (GRCm39)	I613T	possibly damaging	Het
Cfap54	C	T	10: 92,651,883 (GRCm39)	V3056I	probably benign	Het
Chrna2	T	C	14: 66,386,282 (GRCm39)	F143L	probably benign	Het
Cmya5	C	T	13: 93,228,572 (GRCm39)	R2172H	probably benign	Het
Col17a1	T	C	19: 47,657,898 (GRCm39)	E424G	probably benign	Het
Crybg1	T	C	10: 43,880,477 (GRCm39)	E237G	probably benign	Het
Ctnnd2	G	A	15: 30,881,316 (GRCm39)	C732Y	probably damaging	Het
Dcaf12	T	C	4: 41,299,411 (GRCm39)	N264S	probably benign	Het
Dennd4c	A	G	4: 86,743,349 (GRCm39)	S1064G	probably benign	Het
Dsc2	A	T	18: 20,176,968 (GRCm39)	Y360N	probably damaging	Het
E2f3	T	G	13: 30,097,478 (GRCm39)	D295A	probably damaging	Het
Eef2	T	C	10: 81,015,487 (GRCm39)	L336P	possibly damaging	Het
Fanca	A	G	8: 124,035,307 (GRCm39)	S213P	possibly damaging	Het
Fpgt	A	T	3: 154,792,903 (GRCm39)	S375T	probably benign	Het
Gad1	G	A	2: 70,416,206 (GRCm39)	V222I	probably benign	Het
Gm5930	A	T	14: 44,568,858 (GRCm39)	Y255N	possibly damaging	Het
Gpr55	T	C	1: 85,868,624 (GRCm39)	N319S	probably benign	Het
Grik2	T	A	10: 48,989,555 (GRCm39)	I825F	possibly damaging	Het
Hcn4	T	C	9: 58,731,482 (GRCm39)	S230P	unknown	Het
Kansl3	T	C	1: 36,393,861 (GRCm39)	I222V	probably benign	Het
Kif20b	T	C	19: 34,927,203 (GRCm39)	S822P	probably benign	Het
Kremen2	T	A	17: 23,964,737 (GRCm39)		probably benign	Het
Krt71	G	T	15: 101,651,100 (GRCm39)	R128S	possibly damaging	Het
Lrp4	A	T	2: 91,324,397 (GRCm39)	N1244I	possibly damaging	Het
Lrrc66	T	C	5: 73,765,244 (GRCm39)	S600G	possibly damaging	Het
Mrc2	T	A	11: 105,216,711 (GRCm39)	C167S	probably damaging	Het
Mrps17	T	C	5: 129,793,857 (GRCm39)	V17A	probably damaging	Het
Muc20	A	T	16: 32,614,840 (GRCm39)	L179Q	unknown	Het
Or13g1	A	T	7: 85,955,957 (GRCm39)	Y121*	probably null	Het
Or13p8	T	A	4: 118,583,565 (GRCm39)	F40L	probably benign	Het
Or4c29	G	T	2: 88,739,951 (GRCm39)	T262K	probably damaging	Het
Otop2	T	C	11: 115,214,431 (GRCm39)	F63L	probably benign	Het
Pde3b	C	T	7: 114,015,695 (GRCm39)	Q304*	probably null	Het
Pex19	GTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTC	GTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTC	1: 171,956,150 (GRCm39)		probably null	Het
Plekhg4	A	G	8: 106,105,332 (GRCm39)	E599G	possibly damaging	Het
Ppargc1a	C	A	5: 51,630,251 (GRCm39)	R622L	unknown	Het
Ppip5k2	A	G	1: 97,655,139 (GRCm39)	L879P	probably damaging	Het
Prom1	G	T	5: 44,204,870 (GRCm39)	D201E	probably damaging	Het
Psmd1	T	A	1: 86,054,231 (GRCm39)	D723E	probably damaging	Het
Sall2	A	T	14: 52,550,719 (GRCm39)	N825K	possibly damaging	Het
Sds	A	T	5: 120,618,655 (GRCm39)	M70L	probably benign	Het
Sema4c	C	T	1: 36,592,079 (GRCm39)	R256H	probably damaging	Het
Sik1	T	C	17: 32,070,545 (GRCm39)	Y100C	probably damaging	Het
Slc13a5	T	A	11: 72,138,588 (GRCm39)	I452F	probably damaging	Het
Slc25a24	A	G	3: 109,062,395 (GRCm39)	I162V	possibly damaging	Het
Sorbs2	T	G	8: 46,248,774 (GRCm39)	V675G	probably benign	Het
Tenm3	T	A	8: 48,707,668 (GRCm39)	N1710I	probably damaging	Het
Tmem115	T	A	9: 107,411,880 (GRCm39)	M68K	probably benign	Het
Tmem132d	T	C	5: 127,866,936 (GRCm39)	I655V	probably benign	Het
Tmem132d	T	C	5: 128,346,316 (GRCm39)	I69V	probably benign	Het
Tnfrsf11a	G	A	1: 105,754,854 (GRCm39)	A309T	possibly damaging	Het
Trim9	A	G	12: 70,314,013 (GRCm39)	M544T	probably benign	Het
Ttll3	G	A	6: 113,389,850 (GRCm39)	R745H	probably benign	Het
Ttn	G	T	2: 76,737,931 (GRCm39)	L4249I	unknown	Het
Unc79	G	A	12: 103,074,874 (GRCm39)		probably null	Het
Vmn1r196	T	C	13: 22,478,254 (GRCm39)	C298R	probably benign	Het
Vmn1r216	A	G	13: 23,284,081 (GRCm39)	I255V	probably benign	Het
Zfp853	A	G	5: 143,274,243 (GRCm39)	L474P	unknown	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
R1638:Prepl	UTSW	17	85,379,509 (GRCm39)	missense	probably benign	0.04
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
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'- TAGTCTCTCAATGGCAATCCTG -3'
(R):5'- AGCCTGTGACACAGTTTGCC -3'

Sequencing Primer
(F):5'- CTGCAGAATCTATAAAGGTTGTCAGG -3'
(R):5'- GTGACACAGTTTGCCGACCTC -3'

Posted On

2021-10-11