Mutagenetix > Incidental Mutation

Incidental Mutation 'R4632:Prepl'

349319

Institutional Source

Beutler Lab

Gene Symbol

Prepl

Ensembl Gene

ENSMUSG00000024127

Gene Name

prolyl endopeptidase-like

Synonyms

9530014L06Rik, D030028O16Rik, 2810457N15Rik

MMRRC Submission

041897-MU

Accession Numbers

Essential gene?

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

Stock #

R4632 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

85370898-85397669 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 85390659 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 100 (T100A)

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: T13A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000072239
Gene: ENSMUSG00000024127
AA Change: T13A

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: T100A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000130967
Gene: ENSMUSG00000024127
AA Change: T100A

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

0.1690

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg1	T	C	17: 31,283,447 (GRCm39)	V44A	probably benign	Het
Abr	C	T	11: 76,399,845 (GRCm39)	G39R	probably benign	Het
Adora2b	TGGACCACTCCAGGACCACTC	TGGACCACTC	11: 62,156,208 (GRCm39)		probably null	Het
Agbl1	A	G	7: 76,063,433 (GRCm39)	T47A	probably benign	Het
Akap13	G	T	7: 75,316,301 (GRCm39)	A1389S	possibly damaging	Het
Alkbh2	C	T	5: 114,262,287 (GRCm39)	E148K	probably damaging	Het
Ankar	T	A	1: 72,686,343 (GRCm39)	T1286S	probably benign	Het
Ankrd13c	A	G	3: 157,667,939 (GRCm39)	H166R	probably damaging	Het
Aopep	T	C	13: 63,215,906 (GRCm39)	S393P	probably benign	Het
Arl16	A	G	11: 120,356,610 (GRCm39)	S130P	probably damaging	Het
Atp10a	A	T	7: 58,457,186 (GRCm39)	Q895L	possibly damaging	Het
Atp13a5	T	A	16: 29,167,537 (GRCm39)	R138W	probably damaging	Het
Auts2	G	A	5: 131,501,113 (GRCm39)	T309M	probably damaging	Het
C6	A	T	15: 4,789,350 (GRCm39)	K265I	probably benign	Het
Casz1	A	G	4: 149,036,312 (GRCm39)	T1525A	possibly damaging	Het
Cd200l1	T	G	16: 45,238,271 (GRCm39)	H181P	probably benign	Het
Chpf2	A	G	5: 24,796,829 (GRCm39)	T592A	probably benign	Het
Cilp	A	T	9: 65,187,162 (GRCm39)	T1086S	probably benign	Het
Cmip	A	G	8: 118,174,150 (GRCm39)	Y410C	possibly damaging	Het
Csmd3	A	G	15: 47,874,605 (GRCm39)	C560R	probably damaging	Het
Dchs1	T	A	7: 105,403,562 (GRCm39)	E2993D	probably benign	Het
Dnah7a	A	G	1: 53,467,110 (GRCm39)	F3585L	probably damaging	Het
Dspp	A	G	5: 104,325,272 (GRCm39)	D545G	unknown	Het
Dusp7	T	A	9: 106,247,965 (GRCm39)	S198T	possibly damaging	Het
Ell2	A	T	13: 75,917,693 (GRCm39)	Q541L	possibly damaging	Het
Fzd1	A	T	5: 4,805,865 (GRCm39)	Y572*	probably null	Het
Galntl6	T	A	8: 58,880,857 (GRCm39)	I99F	probably damaging	Het
Gnat3	G	A	5: 18,220,364 (GRCm39)		probably null	Het
Hykk	T	C	9: 54,853,800 (GRCm39)	I374T	probably benign	Het
Kcnd3	C	T	3: 105,566,082 (GRCm39)	A421V	probably damaging	Het
Kcnt2	A	G	1: 140,450,886 (GRCm39)	I722V	possibly damaging	Het
Krt1	C	T	15: 101,754,622 (GRCm39)	G543S	unknown	Het
Krt13	A	G	11: 100,012,050 (GRCm39)	L91P	possibly damaging	Het
Krtap4-13	A	C	11: 99,700,354 (GRCm39)	S102A	unknown	Het
Lrp2	A	G	2: 69,319,473 (GRCm39)		probably null	Het
Lrriq1	C	T	10: 103,057,288 (GRCm39)	V171I	probably damaging	Het
Map3k4	C	G	17: 12,451,391 (GRCm39)	E1501Q	probably damaging	Het
Mapk11	C	T	15: 89,030,579 (GRCm39)	V105M	probably damaging	Het
Mlph	G	A	1: 90,867,108 (GRCm39)	A377T	probably damaging	Het
Myo9a	G	A	9: 59,776,947 (GRCm39)	C1115Y	probably benign	Het
Nabp1	A	T	1: 51,513,761 (GRCm39)	Y78*	probably null	Het
Nos2	T	C	11: 78,848,417 (GRCm39)	F1108S	possibly damaging	Het
Oas2	T	C	5: 120,871,546 (GRCm39)	K699R	probably benign	Het
Olfm5	T	C	7: 103,810,100 (GRCm39)	D87G	probably benign	Het
Oog3	A	G	4: 143,884,698 (GRCm39)	F413L	probably benign	Het
Or2c1	C	T	16: 3,656,951 (GRCm39)	T38M	probably damaging	Het
Pik3r4	A	G	9: 105,532,098 (GRCm39)	M557V	probably benign	Het
Pkhd1l1	A	G	15: 44,347,796 (GRCm39)	T224A	probably benign	Het
Pknox2	A	G	9: 36,805,709 (GRCm39)	S367P	probably benign	Het
Ppfia2	A	G	10: 106,671,905 (GRCm39)		probably null	Het
Ppm1e	G	A	11: 87,122,356 (GRCm39)	P534S	probably damaging	Het
Ptpn13	A	G	5: 103,717,726 (GRCm39)	N1924S	possibly damaging	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,229,111 (GRCm39)		probably benign	Het
Samd12	T	A	15: 53,583,067 (GRCm39)	H89L	possibly damaging	Het
Sephs1	T	A	2: 4,901,571 (GRCm39)	V211E	probably benign	Het
Setx	C	T	2: 29,038,627 (GRCm39)	T1704I	probably benign	Het
Sltm	T	C	9: 70,486,651 (GRCm39)	S439P	possibly damaging	Het
Sort1	G	T	3: 108,253,994 (GRCm39)	Q553H	probably damaging	Het
Svs5	G	T	2: 164,079,667 (GRCm39)	T80N	probably benign	Het
Tanc1	C	A	2: 59,626,179 (GRCm39)	T512K	probably damaging	Het
Tas2r139	T	A	6: 42,118,432 (GRCm39)	V188E	probably damaging	Het
Tesk2	C	T	4: 116,598,909 (GRCm39)	R6W	probably benign	Het
Tex101	G	T	7: 24,367,793 (GRCm39)	C186*	probably null	Het
Timp2	C	T	11: 118,194,598 (GRCm39)	S197N	probably benign	Het
Tmem37	A	T	1: 119,995,979 (GRCm39)	C33S	probably damaging	Het
Tmem69	T	C	4: 116,410,235 (GRCm39)	D245G	probably benign	Het
Trak1	G	A	9: 121,283,491 (GRCm39)	R419Q	probably benign	Het
Ube2j2	T	A	4: 156,039,715 (GRCm39)	I14N	probably damaging	Het
Ush2a	T	A	1: 188,128,071 (GRCm39)	N694K	possibly damaging	Het
Utp20	A	G	10: 88,614,123 (GRCm39)	V1277A	probably damaging	Het
Vmn2r100	C	T	17: 19,752,216 (GRCm39)	S753F	probably damaging	Het
Vmn2r103	T	C	17: 20,013,958 (GRCm39)	I250T	probably benign	Het
Zap70	G	T	1: 36,817,539 (GRCm39)	A261S	probably benign	Het
Zdhhc6	A	G	19: 55,302,741 (GRCm39)	W87R	probably damaging	Het
Zfp410	A	T	12: 84,372,510 (GRCm39)	D112V	probably damaging	Het
Zfp462	T	C	4: 55,012,981 (GRCm39)	F501S	probably 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
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'- AAGATGCTCAGCGTGCTTGG -3'
(R):5'- ACGCATCAAGTGTCTGCTTTC -3'

Sequencing Primer
(F):5'- TCAGCGTGCTTGGAAGGC -3'
(R):5'- CCTAACATTGTAATGCCTGCATG -3'

Posted On

2015-10-08