Mutagenetix > Incidental Mutation

Incidental Mutation 'R8940:Prepl'

680951

Institutional Source

Beutler Lab

Gene Symbol

Prepl

Ensembl Gene

ENSMUSG00000024127

Gene Name

prolyl endopeptidase-like

Synonyms

9530014L06Rik, D030028O16Rik, 2810457N15Rik

MMRRC Submission

068780-MU

Accession Numbers

Essential gene?

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

Stock #

R8940 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

85370898-85397669 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 85376354 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 567 (C567S)

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

probably damaging
Transcript: ENSMUST00000072406
AA Change: C480S

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000072239
Gene: ENSMUSG00000024127
AA Change: C480S

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 damaging
Transcript: ENSMUST00000171795
AA Change: C567S

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000130967
Gene: ENSMUSG00000024127
AA Change: C567S

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: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

99% (73/74)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900026A02Rik	A	T	5: 113,241,068 (GRCm39)	S1709T	probably benign	Het
Abcc12	A	G	8: 87,287,440 (GRCm39)	V135A	probably benign	Het
Alkbh3	G	T	2: 93,838,391 (GRCm39)	P60H	probably damaging	Het
Armc3	A	C	2: 19,240,393 (GRCm39)	Y50S	probably damaging	Het
Arpc4	T	C	6: 113,362,599 (GRCm39)	V70A	probably benign	Het
Atp13a4	A	G	16: 29,273,508 (GRCm39)		probably null	Het
Bco1	A	T	8: 117,857,347 (GRCm39)	Y438F	probably benign	Het
Cacna1b	C	A	2: 24,653,084 (GRCm39)		probably benign	Het
Cdh17	C	T	4: 11,783,226 (GRCm39)	S189L	probably damaging	Het
Cltc	T	C	11: 86,621,072 (GRCm39)	T312A	probably benign	Het
Crym	T	A	7: 119,794,703 (GRCm39)	N172I	probably benign	Het
Depdc7	A	G	2: 104,554,913 (GRCm39)		probably null	Het
Dnhd1	T	A	7: 105,363,854 (GRCm39)		probably benign	Het
Dntt	T	A	19: 41,046,990 (GRCm39)		probably benign	Het
Elovl5	T	A	9: 77,890,007 (GRCm39)	S273T	possibly damaging	Het
Fat2	A	T	11: 55,147,636 (GRCm39)	L3869M	possibly damaging	Het
Garnl3	T	C	2: 32,895,241 (GRCm39)		probably null	Het
Gldc	C	T	19: 30,128,884 (GRCm39)	M196I	probably benign	Het
Gm17078	C	T	14: 51,846,342 (GRCm39)	V120M	probably damaging	Het
Gm5157	G	A	7: 20,918,685 (GRCm39)	S286F	probably damaging	Het
Gm6337	C	T	14: 6,055,308 (GRCm38)	C187Y	probably damaging	Het
Golgb1	A	G	16: 36,736,759 (GRCm39)	D2002G	probably damaging	Het
Gpr179	T	C	11: 97,228,675 (GRCm39)	N1160S	probably damaging	Het
Gulo	A	G	14: 66,235,040 (GRCm39)	V227A	probably benign	Het
Hlcs	G	A	16: 94,032,085 (GRCm39)	A31V	probably benign	Het
Hs1bp3	T	C	12: 8,391,980 (GRCm39)	S361P	probably benign	Het
Ifi44	G	A	3: 151,454,946 (GRCm39)	P93L	probably benign	Het
Izumo2	T	A	7: 44,362,470 (GRCm39)	M78K	probably benign	Het
Lin54	T	C	5: 100,594,530 (GRCm39)	E545G	probably damaging	Het
Map3k13	A	T	16: 21,727,454 (GRCm39)	I439F	possibly damaging	Het
Matr3	T	G	18: 35,705,640 (GRCm39)	S188R	probably damaging	Het
Mug1	A	T	6: 121,858,642 (GRCm39)	H1120L		Het
Myef2l	A	T	3: 10,153,406 (GRCm39)	L58F	probably benign	Het
Ndst4	A	G	3: 125,474,802 (GRCm39)		probably benign	Het
Nlrp3	G	A	11: 59,455,870 (GRCm39)	V889M	probably benign	Het
Or1x6	A	G	11: 50,939,455 (GRCm39)	I174V	probably benign	Het
Or2r2	A	G	6: 42,463,212 (GRCm39)	M305T	probably benign	Het
Or5g29	A	G	2: 85,421,528 (GRCm39)	I215V	probably benign	Het
Or5m5	A	T	2: 85,814,543 (GRCm39)	M120L	probably benign	Het
Or8d4	T	A	9: 40,038,480 (GRCm39)	Y259F	probably damaging	Het
P4hb	A	T	11: 120,458,828 (GRCm39)	D182E	probably benign	Het
Pcdh10	A	G	3: 45,338,620 (GRCm39)	T926A	possibly damaging	Het
Pikfyve	T	C	1: 65,286,129 (GRCm39)	S1078P	probably benign	Het
Plcl2	A	T	17: 50,915,790 (GRCm39)	D933V	probably damaging	Het
Pramel7	G	A	2: 87,321,612 (GRCm39)	T141I	probably benign	Het
Prpsap1	A	T	11: 116,370,615 (GRCm39)	M114K	probably damaging	Het
Ptk2b	A	C	14: 66,407,685 (GRCm39)		probably null	Het
Rest	T	C	5: 77,430,715 (GRCm39)	F1045L	possibly damaging	Het
Rnf19a	A	G	15: 36,260,284 (GRCm39)	C254R	probably damaging	Het
Rrad	C	T	8: 105,355,222 (GRCm39)	R262Q	possibly damaging	Het
Rsf1	GGCG	GGCGACTGCCGCG	7: 97,229,113 (GRCm39)		probably benign	Het
Setdb1	T	A	3: 95,263,483 (GRCm39)	M8L	probably benign	Het
Setdb2	A	G	14: 59,646,956 (GRCm39)	S536P	probably damaging	Het
Sipa1l1	T	C	12: 82,404,040 (GRCm39)	L511P	probably damaging	Het
Slc12a9	T	A	5: 137,326,755 (GRCm39)	H234L	probably benign	Het
Slc35e2	G	T	4: 155,694,542 (GRCm39)	G30W	probably damaging	Het
Slc6a15	T	C	10: 103,229,357 (GRCm39)	V132A	probably damaging	Het
Slc7a10	A	G	7: 34,899,875 (GRCm39)	T486A	probably benign	Het
Smc5	T	C	19: 23,237,126 (GRCm39)	Y235C	probably benign	Het
Sorcs3	T	C	19: 48,784,908 (GRCm39)		probably null	Het
Spata21	T	C	4: 140,832,216 (GRCm39)	L459P	probably damaging	Het
Tbc1d9	A	G	8: 83,981,452 (GRCm39)	I706M	probably damaging	Het
Tcp11	T	A	17: 28,299,204 (GRCm39)	E17V	probably damaging	Het
Tiparp	A	G	3: 65,439,299 (GRCm39)	D23G	probably benign	Het
Tmem108	A	G	9: 103,377,156 (GRCm39)	S98P	possibly damaging	Het
Tmem35b	A	G	4: 127,021,673 (GRCm39)	D56G	probably damaging	Het
Tnr	G	C	1: 159,685,867 (GRCm39)	G366A	probably damaging	Het
Ttc3	A	G	16: 94,230,358 (GRCm39)	S852G	possibly damaging	Het
Ttn	G	A	2: 76,596,938 (GRCm39)	L19992F	probably damaging	Het
Ush2a	T	A	1: 188,132,505 (GRCm39)	M909K	probably benign	Het
Wdr90	G	A	17: 26,076,146 (GRCm39)	R104C		Het
Wif1	A	G	10: 120,935,684 (GRCm39)	H333R	probably benign	Het
Zfp119a	A	G	17: 56,172,551 (GRCm39)	C431R	probably damaging	Het
Zfp345	G	A	2: 150,314,277 (GRCm39)	P420L	probably benign	Het
Zfp608	C	T	18: 55,033,301 (GRCm39)	D411N	possibly damaging	Het
Zfp609	C	T	9: 65,610,561 (GRCm39)	A801T	possibly damaging	Het
Zfp74	A	G	7: 29,634,772 (GRCm39)	V312A	possibly damaging	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
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'- TAGTCTCTCAATGGCAATCCTG -3'
(R):5'- CTGTGACACAGTTTGCCGAC -3'

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

Posted On

2021-08-31