Mutagenetix > Incidental Mutation

Incidental Mutation 'R0140:Prcp'

22253

Institutional Source

Beutler Lab

Gene Symbol

Prcp

Ensembl Gene

ENSMUSG00000061119

Gene Name

prolylcarboxypeptidase (angiotensinase C)

Synonyms

2510048K03Rik, 2610104A14Rik

MMRRC Submission

038425-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.089) question?

Stock #

R0140 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

92524461-92583789 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 92577819 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 328 (T328A)

Ref Sequence

ENSEMBL: ENSMUSP00000146597 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000076052] [ENSMUST00000207594]

AlphaFold

Q7TMR0

Predicted Effect

probably damaging
Transcript: ENSMUST00000076052
AA Change: T363A

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000075429
Gene: ENSMUSG00000061119
AA Change: T363A

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
Pfam:Peptidase_S37	20	211	1.4e-4	PFAM
Pfam:Peptidase_S28	53	475	3.4e-92	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000207594
AA Change: T328A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Meta Mutation Damage Score

0.9412

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.4%

Validation Efficiency

98% (79/81)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the peptidase S28 family of serine exopeptidases. The encoded preproprotein is proteolytically processed to generate the mature lysosomal prolylcarboxypeptidase. This enzyme cleaves C-terminal amino acids linked to proline in peptides such as angiotension II, III and des-Arg9-bradykinin. The cleavage occurs at acidic pH, but the enzyme activity is retained with some substrates at neutral pH. This enzyme has been shown to be an activator of the cell matrix-associated prekallikrein. The importance of angiotension II, one of the substrates of this enzyme, in regulating blood pressure and electrolyte balance suggests that this gene may be related to essential hypertension. A pseudogene of this gene has been identified on chromosome 2. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Jan 2016]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit decreased body length, weight, and fat pads with resistance to diet-induced obesity. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010315B03Rik	T	C	9: 124,057,789 (GRCm39)		probably benign	Het
9330161L09Rik	T	C	12: 103,373,587 (GRCm39)		probably benign	Het
Abca2	T	G	2: 25,328,097 (GRCm39)		probably null	Het
Adgrf3	T	C	5: 30,401,379 (GRCm39)	K13R	probably benign	Het
Arhgap15	C	A	2: 44,212,779 (GRCm39)	F416L	probably damaging	Het
Arhgef26	C	G	3: 62,355,666 (GRCm39)	T746R	probably benign	Het
Aspm	C	T	1: 139,408,379 (GRCm39)	T2422I	probably benign	Het
Atp4a	C	G	7: 30,419,526 (GRCm39)	R659G	probably benign	Het
AY358078	T	A	14: 52,063,399 (GRCm39)	D348E	probably benign	Het
Blnk	A	T	19: 40,928,668 (GRCm39)	S285T	probably damaging	Het
Calr3	C	T	8: 73,188,732 (GRCm39)		probably benign	Het
Camsap2	A	T	1: 136,208,120 (GRCm39)	V1124D	probably benign	Het
Ccdc40	G	A	11: 119,155,125 (GRCm39)	G1122S	probably benign	Het
Ccdc69	C	A	11: 54,941,325 (GRCm39)	C196F	possibly damaging	Het
Cdhr3	T	G	12: 33,130,412 (GRCm39)	N141T	probably benign	Het
Cdk4	T	C	10: 126,900,214 (GRCm39)	V37A	probably damaging	Het
Celsr2	C	T	3: 108,305,249 (GRCm39)	R2110K	probably benign	Het
Clcn7	A	G	17: 25,372,728 (GRCm39)	Y437C	probably damaging	Het
Col6a6	A	G	9: 105,579,474 (GRCm39)	F1917S	probably damaging	Het
Cps1	T	G	1: 67,219,275 (GRCm39)	S872A	probably benign	Het
Crebbp	G	T	16: 3,935,363 (GRCm39)	T842N	probably damaging	Het
Dennd2d	G	A	3: 106,399,799 (GRCm39)	V234I	probably benign	Het
Fam227b	T	C	2: 125,966,523 (GRCm39)	M130V	possibly damaging	Het
Fbxw24	G	T	9: 109,434,482 (GRCm39)	L373I	possibly damaging	Het
Fubp3	T	C	2: 31,498,196 (GRCm39)	Y359H	probably damaging	Het
Gm19684	T	C	17: 36,438,319 (GRCm39)		probably benign	Het
Hrnr	C	T	3: 93,238,800 (GRCm39)	Q3013*	probably null	Het
Il12rb1	T	C	8: 71,272,415 (GRCm39)		probably benign	Het
Lepr	A	T	4: 101,625,264 (GRCm39)	D473V	probably damaging	Het
Myof	A	T	19: 37,940,004 (GRCm39)	Y820*	probably null	Het
Nfil3	G	A	13: 53,121,681 (GRCm39)	Q408*	probably null	Het
Nolc1	G	A	19: 46,069,817 (GRCm39)		probably benign	Het
Npbwr1	A	C	1: 5,986,840 (GRCm39)	Y225D	probably damaging	Het
Nrip3	T	C	7: 109,361,022 (GRCm39)		probably benign	Het
Ntrk1	A	C	3: 87,685,875 (GRCm39)	L749R	probably damaging	Het
Or10ag53	A	G	2: 87,082,969 (GRCm39)	I229M	probably damaging	Het
Or2b11	A	G	11: 59,461,804 (GRCm39)	L254P	probably damaging	Het
Or4c126	T	A	2: 89,824,463 (GRCm39)	V242D	probably damaging	Het
Or52a24	A	G	7: 103,381,349 (GRCm39)	D72G	probably damaging	Het
Or6c211	G	T	10: 129,505,557 (GRCm39)	T277N	probably damaging	Het
Paox	A	T	7: 139,713,971 (GRCm39)	T244S	probably damaging	Het
Pcdhb9	T	A	18: 37,536,014 (GRCm39)	D669E	possibly damaging	Het
Pggt1b	A	G	18: 46,391,150 (GRCm39)		probably null	Het
Phkg1	T	A	5: 129,893,449 (GRCm39)	I334F	probably benign	Het
Phtf1	A	T	3: 103,894,876 (GRCm39)	R208W	probably null	Het
Pnliprp2	A	T	19: 58,754,795 (GRCm39)	I280F	probably benign	Het
Pnma8a	A	G	7: 16,694,147 (GRCm39)	M1V	probably null	Het
Pxdn	A	G	12: 30,032,753 (GRCm39)	E179G	probably benign	Het
Racgap1	A	T	15: 99,521,532 (GRCm39)	N541K	probably benign	Het
Rnf103	T	A	6: 71,486,315 (GRCm39)	F315L	possibly damaging	Het
Septin2	A	G	1: 93,429,361 (GRCm39)	R237G	probably damaging	Het
Setd6	T	A	8: 96,442,737 (GRCm39)	L58Q	probably damaging	Het
Sipa1l1	G	A	12: 82,442,974 (GRCm39)	V755I	probably damaging	Het
Slc16a12	G	T	19: 34,650,104 (GRCm39)		probably benign	Het
Slk	G	A	19: 47,610,774 (GRCm39)	D815N	probably damaging	Het
Stx1a	T	C	5: 135,074,439 (GRCm39)		probably benign	Het
Tbc1d15	T	A	10: 115,056,124 (GRCm39)	I283F	probably damaging	Het
Tenm4	T	C	7: 96,545,259 (GRCm39)	I2425T	possibly damaging	Het
Tle1	G	A	4: 72,038,422 (GRCm39)	H702Y	probably damaging	Het
Tmc6	A	G	11: 117,657,077 (GRCm39)		probably benign	Het
Tmem268	G	A	4: 63,496,096 (GRCm39)	R179H	possibly damaging	Het
Tmem9	A	G	1: 135,961,900 (GRCm39)	K165R	probably damaging	Het
Trpm6	A	G	19: 18,796,558 (GRCm39)		probably null	Het
Tufm	C	T	7: 126,089,003 (GRCm39)	P88S	probably damaging	Het
Ubqln1	A	G	13: 58,341,103 (GRCm39)	I216T	probably damaging	Het
Urad	T	G	5: 147,259,141 (GRCm39)	M1L	probably benign	Het
Utp6	A	G	11: 79,847,551 (GRCm39)		probably benign	Het
Vav2	C	T	2: 27,163,688 (GRCm39)		probably benign	Het
Vmn2r55	G	T	7: 12,402,104 (GRCm39)	Q395K	possibly damaging	Het
Wwox	T	G	8: 115,433,027 (GRCm39)	V231G	probably damaging	Het
Zfp646	T	A	7: 127,482,678 (GRCm39)	N1618K	probably benign	Het
Zzef1	G	A	11: 72,790,377 (GRCm39)	M2110I	possibly damaging	Het

Other mutations in Prcp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00765:Prcp	APN	7	92,582,307 (GRCm39)	missense	probably benign	0.00
IGL01124:Prcp	APN	7	92,559,416 (GRCm39)	missense	probably benign	0.01
IGL01538:Prcp	APN	7	92,559,421 (GRCm39)	missense	probably benign	0.09
IGL02005:Prcp	APN	7	92,577,032 (GRCm39)	missense	probably benign	0.01
IGL02160:Prcp	APN	7	92,566,969 (GRCm39)	missense	probably benign	0.02
IGL02548:Prcp	APN	7	92,550,382 (GRCm39)	missense	probably damaging	0.98
R0480:Prcp	UTSW	7	92,568,290 (GRCm39)	missense	probably damaging	1.00
R0989:Prcp	UTSW	7	92,559,424 (GRCm39)	missense	probably benign	0.04
R1216:Prcp	UTSW	7	92,566,954 (GRCm39)	missense	probably benign
R1596:Prcp	UTSW	7	92,567,042 (GRCm39)	intron	probably benign
R1823:Prcp	UTSW	7	92,577,883 (GRCm39)	missense	probably damaging	0.98
R2132:Prcp	UTSW	7	92,550,488 (GRCm39)	missense	probably benign	0.01
R2206:Prcp	UTSW	7	92,577,820 (GRCm39)	missense	probably damaging	1.00
R4761:Prcp	UTSW	7	92,566,933 (GRCm39)	splice site	probably null
R5000:Prcp	UTSW	7	92,568,368 (GRCm39)	missense	probably damaging	0.99
R5320:Prcp	UTSW	7	92,577,843 (GRCm39)	missense	probably benign	0.01
R5969:Prcp	UTSW	7	92,566,974 (GRCm39)	missense	probably benign	0.01
R6013:Prcp	UTSW	7	92,576,976 (GRCm39)	missense	possibly damaging	0.72
R6298:Prcp	UTSW	7	92,577,841 (GRCm39)	missense	probably damaging	1.00
R7733:Prcp	UTSW	7	92,550,506 (GRCm39)	missense	probably damaging	1.00
R7852:Prcp	UTSW	7	92,577,900 (GRCm39)	missense	probably benign	0.33
R8032:Prcp	UTSW	7	92,577,906 (GRCm39)	missense	probably damaging	1.00
R8317:Prcp	UTSW	7	92,524,598 (GRCm39)	missense	probably benign	0.05
R8869:Prcp	UTSW	7	92,559,518 (GRCm39)	missense	possibly damaging	0.75
R9038:Prcp	UTSW	7	92,567,017 (GRCm39)	missense	probably benign
R9185:Prcp	UTSW	7	92,582,257 (GRCm39)	missense	probably benign
R9333:Prcp	UTSW	7	92,577,894 (GRCm39)	missense	probably damaging	0.98
R9643:Prcp	UTSW	7	92,524,598 (GRCm39)	missense	probably benign	0.00
R9725:Prcp	UTSW	7	92,567,035 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- AGTGCAGTCCCTAGCTGAATGACC -3'
(R):5'- AGCCATCCTGCAAGTGTCTCCATC -3'

Sequencing Primer
(F):5'- TAGCTGAATGACCTTGACCC -3'
(R):5'- TGCAAGTGTCTCCATCAACCAG -3'

Posted On

2013-04-16