Mutagenetix > Incidental Mutation

Incidental Mutation 'R5969:Prcp'

470742

Institutional Source

Beutler Lab

Gene Symbol

Prcp

Ensembl Gene

ENSMUSG00000061119

Gene Name

prolylcarboxypeptidase (angiotensinase C)

Synonyms

2510048K03Rik, 2610104A14Rik

MMRRC Submission

044152-MU

Accession Numbers

Essential gene?

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

Stock #

R5969 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

92524461-92583789 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 92566974 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 229 (P229S)

Ref Sequence

ENSEMBL: ENSMUSP00000075429 (fasta)

Gene Model

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

AlphaFold

Q7TMR0

Predicted Effect

probably benign
Transcript: ENSMUST00000076052
AA Change: P229S

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000075429
Gene: ENSMUSG00000061119
AA Change: P229S

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 benign
Transcript: ENSMUST00000207594

Meta Mutation Damage Score

0.1425

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.2%

Validation Efficiency

99% (67/68)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aaas	A	C	15: 102,258,999 (GRCm39)	Y19D	probably damaging	Het
Abca13	T	A	11: 9,242,214 (GRCm39)	L1359*	probably null	Het
Ahi1	A	T	10: 20,860,292 (GRCm39)	D671V	probably damaging	Het
Ahnak	T	C	19: 8,993,949 (GRCm39)	S5078P	probably damaging	Het
Ankhd1	A	T	18: 36,733,887 (GRCm39)	T584S	probably damaging	Het
Apba2	T	A	7: 64,394,195 (GRCm39)	L568*	probably null	Het
Cenpn	C	A	8: 117,667,276 (GRCm39)	L300I	probably damaging	Het
Cmya5	A	T	13: 93,226,052 (GRCm39)	L3012Q	possibly damaging	Het
Cnnm1	T	C	19: 43,479,911 (GRCm39)	S819P	probably damaging	Het
Cpa6	A	T	1: 10,559,108 (GRCm39)	S87T	probably benign	Het
Crybg2	T	A	4: 133,803,003 (GRCm39)		probably null	Het
Csmd1	T	A	8: 16,121,367 (GRCm39)	T1777S	probably benign	Het
Csmd3	G	T	15: 47,811,386 (GRCm39)	P1235Q	probably damaging	Het
Cxcr4	T	A	1: 128,517,584 (GRCm39)	N24Y	probably benign	Het
D630003M21Rik	G	T	2: 158,059,628 (GRCm39)	H91N	probably damaging	Het
Ece1	T	C	4: 137,689,051 (GRCm39)		probably null	Het
Edc3	T	C	9: 57,620,711 (GRCm39)	S11P	probably damaging	Het
Eif1ad14	T	C	12: 87,886,248 (GRCm39)	D127G	unknown	Het
Exoc3	G	A	13: 74,320,305 (GRCm39)	Q719*	probably null	Het
Fam13a	A	G	6: 58,942,183 (GRCm39)	M203T	probably damaging	Het
Fchsd1	C	T	18: 38,092,926 (GRCm39)		probably benign	Het
Fhip2a	C	T	19: 57,372,555 (GRCm39)	R602*	probably null	Het
Fxyd2	T	A	9: 45,319,628 (GRCm39)	I30N	probably damaging	Het
Gapt	A	G	13: 110,490,480 (GRCm39)	V61A	probably benign	Het
Glb1l2	C	T	9: 26,692,038 (GRCm39)	A74T	probably damaging	Het
Gpr35	T	C	1: 92,910,942 (GRCm39)	V2A	probably damaging	Het
Gtf3c1	A	G	7: 125,244,848 (GRCm39)	S1729P	possibly damaging	Het
Heatr5a	T	C	12: 52,005,823 (GRCm39)	T51A	probably benign	Het
Kat6b	G	A	14: 21,720,860 (GRCm39)	M1737I	probably damaging	Het
Kif20a	G	A	18: 34,765,468 (GRCm39)	A822T	probably benign	Het
Klk10	A	G	7: 43,434,409 (GRCm39)	Y267C	probably damaging	Het
Lgmn	T	C	12: 102,372,086 (GRCm39)	Y98C	probably damaging	Het
Lyst	A	C	13: 13,862,398 (GRCm39)		probably null	Het
Man2a1	A	G	17: 64,932,375 (GRCm39)	K154R	probably benign	Het
Mfng	A	T	15: 78,648,582 (GRCm39)	V165D	possibly damaging	Het
Mto1	A	G	9: 78,360,187 (GRCm39)	E225G	probably damaging	Het
Notch3	C	A	17: 32,372,858 (GRCm39)	C571F	probably damaging	Het
Nup205	C	T	6: 35,154,513 (GRCm39)		probably benign	Het
Or51b6	T	A	7: 103,556,117 (GRCm39)	I157N	probably damaging	Het
P2ry14	T	A	3: 59,022,579 (GRCm39)	I303F	probably damaging	Het
Pcnx3	T	C	19: 5,735,563 (GRCm39)	D421G	probably damaging	Het
Pdlim4	T	C	11: 53,954,482 (GRCm39)	H75R	possibly damaging	Het
Phf21a	A	T	2: 92,051,956 (GRCm39)	H17L	probably damaging	Het
Ppid	T	A	3: 79,505,024 (GRCm39)	N122K	probably damaging	Het
Ppp4r3a	T	C	12: 101,009,838 (GRCm39)	I613V	probably benign	Het
Ralgds	T	C	2: 28,432,426 (GRCm39)	V85A	probably damaging	Het
Rgs22	G	A	15: 36,015,782 (GRCm39)	T1034I	probably benign	Het
Slc4a3	T	C	1: 75,526,623 (GRCm39)	V48A	probably damaging	Het
Snx16	A	T	3: 10,503,217 (GRCm39)	M10K	possibly damaging	Het
Svep1	G	A	4: 58,070,977 (GRCm39)	Q2270*	probably null	Het
Tmem185b	T	G	1: 119,455,193 (GRCm39)	I318S	probably benign	Het
Tnik	C	T	3: 28,675,097 (GRCm39)	R657C	probably damaging	Het
Top3b	T	C	16: 16,701,429 (GRCm39)		probably null	Het
Trim40	C	T	17: 37,193,319 (GRCm39)	R203H	probably benign	Het
Triobp	T	A	15: 78,851,740 (GRCm39)	N631K	probably benign	Het
Ubr3	T	G	2: 69,809,730 (GRCm39)	Y1233*	probably null	Het
Vgll3	A	G	16: 65,636,449 (GRCm39)	D200G	probably damaging	Het
Vmn2r24	G	A	6: 123,755,981 (GRCm39)	E18K	probably benign	Het
Zfp141	C	A	7: 42,138,912 (GRCm39)	R40L	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
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
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'- AGGACTAGTGCCCTTTCCTGG -3'
(R):5'- GAACCCTAAAATGTCAACCTCTG -3'

Sequencing Primer
(F):5'- TGCAGGCAGAACACTGTGTAC -3'
(R):5'- TGACCTACAGACACACATGC -3'

Posted On

2017-03-31