Mutagenetix > Incidental Mutation

Incidental Mutation 'R5000:Prcp'

389824

Institutional Source

Beutler Lab

Gene Symbol

Prcp

Ensembl Gene

ENSMUSG00000061119

Gene Name

prolylcarboxypeptidase (angiotensinase C)

Synonyms

2510048K03Rik, 2610104A14Rik

MMRRC Submission

042594-MU

Accession Numbers

Essential gene?

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

Stock #

R5000 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

92524461-92583789 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 92568368 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 267 (W267R)

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: W302R

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000075429
Gene: ENSMUSG00000061119
AA Change: W302R

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: W267R

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

Meta Mutation Damage Score

0.8092

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.6%
20x: 93.4%

Validation Efficiency

98% (97/99)

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022A10Rik	T	A	7: 27,255,946 (GRCm39)	F11Y	probably benign	Het
Abca5	A	G	11: 110,201,050 (GRCm39)	L450P	probably damaging	Het
Abi1	T	A	2: 22,840,211 (GRCm39)	R357W	probably damaging	Het
Acot7	G	A	4: 152,270,820 (GRCm39)	G55R	probably benign	Het
Aicda	G	A	6: 122,538,826 (GRCm39)	V14I	probably damaging	Het
Anxa4	G	T	6: 86,742,766 (GRCm39)		probably benign	Het
Apobr	T	A	7: 126,185,729 (GRCm39)	D413E	possibly damaging	Het
Ash1l	T	C	3: 88,965,941 (GRCm39)	Y2448H	probably damaging	Het
Atf7ip	A	G	6: 136,559,426 (GRCm39)	E749G	probably damaging	Het
Atp8b3	A	T	10: 80,357,676 (GRCm39)	N1114K	possibly damaging	Het
Bdnf	C	A	2: 109,553,993 (GRCm39)	N122K	probably benign	Het
Boc	A	T	16: 44,310,517 (GRCm39)	I801N	probably damaging	Het
Brap	A	T	5: 121,800,089 (GRCm39)	K37*	probably null	Het
Ccar1	C	T	10: 62,586,784 (GRCm39)	E885K	unknown	Het
Ccdc103	A	G	11: 102,774,932 (GRCm39)	N177S	probably benign	Het
Ccdc116	G	A	16: 16,959,657 (GRCm39)	P344L	possibly damaging	Het
Cdca5	T	C	19: 6,135,463 (GRCm39)	S28P	possibly damaging	Het
Ceacam20	T	C	7: 19,699,453 (GRCm39)	I14T	probably damaging	Het
Chrnb1	A	T	11: 69,677,858 (GRCm39)	V298E	probably damaging	Het
Cnksr3	G	A	10: 7,076,746 (GRCm39)	Q149*	probably null	Het
Csnk1a1	T	C	18: 61,711,840 (GRCm39)	F97L	probably damaging	Het
Dag1	A	T	9: 108,085,216 (GRCm39)	S642T	probably benign	Het
Dedd2	A	G	7: 24,903,068 (GRCm39)	V297A	possibly damaging	Het
Dhcr7	C	T	7: 143,395,060 (GRCm39)	T189M	possibly damaging	Het
Dlgap1	T	C	17: 71,073,053 (GRCm39)	S691P	probably damaging	Het
Dmgdh	A	C	13: 93,825,046 (GRCm39)	H123P	probably damaging	Het
Dnah6	C	T	6: 73,121,798 (GRCm39)	V1395I	probably benign	Het
Dnah7a	T	C	1: 53,606,201 (GRCm39)	Y1273C	probably damaging	Het
Dnah7b	T	A	1: 46,138,663 (GRCm39)	L235*	probably null	Het
Elac2	T	C	11: 64,876,379 (GRCm39)	F3L	probably benign	Het
Elovl7	A	T	13: 108,410,915 (GRCm39)	K163N	probably benign	Het
Epg5	T	C	18: 77,997,376 (GRCm39)	V413A	probably benign	Het
Espl1	T	A	15: 102,206,986 (GRCm39)	L150Q	probably damaging	Het
F2rl3	T	A	8: 73,489,307 (GRCm39)	L178Q	probably damaging	Het
Fam120a	T	C	13: 49,051,143 (GRCm39)	E754G	probably damaging	Het
Fam53b	T	C	7: 132,317,730 (GRCm39)	N304S	probably benign	Het
Fbxo41	T	C	6: 85,460,901 (GRCm39)	E269G	probably damaging	Het
Fcrla	T	C	1: 170,749,959 (GRCm39)	T4A	probably benign	Het
Frmpd1	A	T	4: 45,261,931 (GRCm39)		probably null	Het
Gm9376	A	G	14: 118,504,702 (GRCm39)	M45V	probably benign	Het
Gpr68	G	A	12: 100,844,596 (GRCm39)	A316V	probably benign	Het
Hmgcl	G	A	4: 135,689,511 (GRCm39)	C323Y	probably benign	Het
Hnrnpu	T	C	1: 178,156,941 (GRCm39)		probably benign	Het
Ier2	T	A	8: 85,389,353 (GRCm39)	I10F	probably damaging	Het
Ip6k1	C	T	9: 107,922,798 (GRCm39)	Q234*	probably null	Het
Llgl2	T	C	11: 115,735,728 (GRCm39)	V108A	probably benign	Het
Lrfn3	T	C	7: 30,059,805 (GRCm39)	N140S	possibly damaging	Het
Lrig1	T	A	6: 94,588,430 (GRCm39)	H573L	probably damaging	Het
Lrrk2	T	A	15: 91,634,081 (GRCm39)	W1393R	probably damaging	Het
Mrc1	T	A	2: 14,249,000 (GRCm39)	Y179N	probably damaging	Het
Mtfr1	C	T	3: 19,265,743 (GRCm39)	L93F	probably damaging	Het
Muc19	T	C	15: 91,757,429 (GRCm39)		noncoding transcript	Het
Ndst2	C	T	14: 20,774,975 (GRCm39)		probably null	Het
Nmd3	A	T	3: 69,624,735 (GRCm39)		probably benign	Het
Nsd3	A	G	8: 26,172,593 (GRCm39)	Y784C	probably damaging	Het
Or4a27	A	T	2: 88,559,910 (GRCm39)	I11N	probably damaging	Het
Or7a36	G	A	10: 78,820,514 (GRCm39)	V297I	probably benign	Het
Papln	A	G	12: 83,821,663 (GRCm39)	Y297C	probably damaging	Het
Pdhx	T	C	2: 102,871,385 (GRCm39)		probably null	Het
Pdpk1	T	C	17: 24,330,019 (GRCm39)	T6A	possibly damaging	Het
Prg2	T	C	2: 84,812,367 (GRCm39)	S26P	probably benign	Het
Psg26	A	T	7: 18,214,057 (GRCm39)	Y202N	possibly damaging	Het
Psrc1	T	C	3: 108,287,839 (GRCm39)		probably benign	Het
Rap1gds1	A	T	3: 138,662,011 (GRCm39)	M366K	probably damaging	Het
Robo4	G	T	9: 37,319,664 (GRCm39)	R527L	probably benign	Het
Sel1l3	G	A	5: 53,357,776 (GRCm39)	T72M	probably damaging	Het
Selenoo	G	A	15: 88,978,387 (GRCm39)	R270H	probably damaging	Het
Sema3d	A	G	5: 12,498,005 (GRCm39)	T4A	probably benign	Het
Shroom1	A	T	11: 53,357,944 (GRCm39)		probably benign	Het
Slc25a19	T	C	11: 115,507,497 (GRCm39)		probably null	Het
Snx29	A	C	16: 11,221,371 (GRCm39)	I266L	probably damaging	Het
Spo11	T	C	2: 172,831,193 (GRCm39)	S255P	probably damaging	Het
Spock3	T	C	8: 63,698,158 (GRCm39)	V167A	possibly damaging	Het
Tmc7	A	G	7: 118,158,077 (GRCm39)		probably null	Het
Tmtc4	A	G	14: 123,170,743 (GRCm39)	V509A	possibly damaging	Het
Trim24	A	G	6: 37,935,547 (GRCm39)	D880G	probably benign	Het
Ube2j2	G	A	4: 156,030,841 (GRCm39)	M1I	probably null	Het
Ubr4	T	A	4: 139,163,480 (GRCm39)	C2627S	probably damaging	Het
Unc5d	A	T	8: 29,205,775 (GRCm39)	M512K	possibly damaging	Het
Usp18	A	G	6: 121,229,479 (GRCm39)	R33G	possibly damaging	Het
Utp23	T	A	15: 51,745,569 (GRCm39)	V23D	probably damaging	Het
Wdr17	T	A	8: 55,118,161 (GRCm39)	M512L	possibly damaging	Het
Wdr64	T	A	1: 175,553,941 (GRCm39)		probably null	Het
Zbtb6	T	C	2: 37,319,251 (GRCm39)	T226A	probably benign	Het
Zc3hc1	T	A	6: 30,375,987 (GRCm39)	H191L	possibly damaging	Het
Zdhhc4	C	A	5: 143,310,688 (GRCm39)	C48F	probably damaging	Het
Zfp335	T	A	2: 164,736,588 (GRCm39)	T1016S	probably benign	Het
Zfp583	A	G	7: 6,328,473 (GRCm39)	Y39H	probably 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
R0140:Prcp	UTSW	7	92,577,819 (GRCm39)	missense	probably damaging	1.00
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
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'- TTTATCTGCAGGCAGTGGTC -3'
(R):5'- TCACAGTGCTGTAGTTGATGAG -3'

Sequencing Primer
(F):5'- AGTGGTCTCCAGTCGCTCAC -3'
(R):5'- AGCTGTAGACCCAGGATTCTATC -3'

Posted On

2016-06-06