Mutagenetix > Incidental Mutation

Incidental Mutation 'R1823:Prcp'

206575

Institutional Source

Beutler Lab

Gene Symbol

Prcp

Ensembl Gene

ENSMUSG00000061119

Gene Name

prolylcarboxypeptidase (angiotensinase C)

Synonyms

2510048K03Rik, 2610104A14Rik

MMRRC Submission

039851-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.086) question?

Stock #

R1823 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

92874470-92934583 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 92928675 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 349 (D349V)

Ref Sequence

ENSEMBL: ENSMUSP00000146597 (fasta)

Gene Model

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

AlphaFold

Q7TMR0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000076052
AA Change: D384V

PolyPhen 2 Score 0.878 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000075429
Gene: ENSMUSG00000061119
AA Change: D384V

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: D349V

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.1%
20x: 91.6%

Validation Efficiency

98% (87/89)

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810041L15Rik	T	C	15: 84,406,468	T213A	probably benign	Het
Adcy1	G	A	11: 7,161,312	V868I	probably benign	Het
Ahnak	G	T	19: 9,004,905	M1184I	probably damaging	Het
Akap11	T	C	14: 78,511,488	E1153G	probably damaging	Het
Amy1	T	C	3: 113,562,727	N260S	probably null	Het
Ankrd6	A	G	4: 32,824,427	L129P	probably damaging	Het
Aox2	A	T	1: 58,312,359	T702S	probably benign	Het
Apobec1	G	T	6: 122,578,886	T204K	possibly damaging	Het
Arhgef19	A	G	4: 141,249,146	R433G	probably benign	Het
Atf6b	T	A	17: 34,648,644	H110Q	possibly damaging	Het
Btnl4	C	T	17: 34,475,852		probably null	Het
Camsap2	T	C	1: 136,273,783	T662A	possibly damaging	Het
Cbs	G	A	17: 31,624,271	H229Y	probably damaging	Het
Cct8	G	A	16: 87,490,554	R111*	probably null	Het
Cdc42bpb	C	T	12: 111,327,559	A250T	probably damaging	Het
Chrd	A	G	16: 20,741,347		probably benign	Het
Ckap2l	A	G	2: 129,275,579	F559L	probably damaging	Het
D630003M21Rik	T	C	2: 158,217,557	Y141C	probably damaging	Het
Dbf4	T	C	5: 8,397,539	N557S	probably benign	Het
Dct	T	G	14: 118,036,523	N324T	probably benign	Het
Dip2a	A	T	10: 76,278,502	L999*	probably null	Het
Dock10	T	A	1: 80,543,097		probably null	Het
Dync2li1	A	T	17: 84,649,797	D330V	probably damaging	Het
Eif4g3	T	A	4: 138,180,491	D1267E	probably benign	Het
Enc1	A	G	13: 97,245,978	E332G	possibly damaging	Het
Fat2	C	T	11: 55,256,780	V3879I	probably benign	Het
Fh1	A	T	1: 175,616,548	I117K	probably damaging	Het
Fkbp15	A	G	4: 62,337,091	L227P	probably damaging	Het
Fpr1	T	A	17: 17,877,053	M225L	probably benign	Het
Fras1	A	T	5: 96,770,688	I3528F	probably damaging	Het
Grm7	A	G	6: 111,207,769	T354A	probably benign	Het
Ift27	T	A	15: 78,173,778	I9F	possibly damaging	Het
Igf1r	A	G	7: 68,194,981	D834G	possibly damaging	Het
Igsf9b	T	A	9: 27,331,732	L738Q	probably damaging	Het
Itgam	A	T	7: 128,064,732	T44S	probably benign	Het
Ivd	T	A	2: 118,862,034	I5N	probably benign	Het
Jcad	T	C	18: 4,675,780	S1181P	probably damaging	Het
Kctd18	A	G	1: 57,956,365	V251A	probably benign	Het
Mycbp2	A	G	14: 103,252,509	V953A	possibly damaging	Het
Myo18a	T	C	11: 77,825,097		probably benign	Het
Myo3a	A	T	2: 22,340,280	Y509F	probably damaging	Het
Myocd	C	A	11: 65,178,670	M909I	probably benign	Het
Ndufv3	G	A	17: 31,531,245	R467Q	probably damaging	Het
Nkpd1	G	A	7: 19,523,252	V319M	probably damaging	Het
Olfr1216	A	G	2: 89,013,378	S229P	probably benign	Het
Olfr1342	T	A	4: 118,690,192	N87Y	probably damaging	Het
Olfr1453	C	A	19: 13,027,817	V171L	probably benign	Het
Olfr31	T	A	14: 14,328,774	L221Q	probably damaging	Het
Olfr366	T	C	2: 37,220,332	V281A	probably damaging	Het
Olfr406	C	T	11: 74,270,217	A276V	probably damaging	Het
Olfr450	G	T	6: 42,818,268	A266S	possibly damaging	Het
Parp4	T	C	14: 56,589,872		probably benign	Het
Pcdhb9	A	G	18: 37,402,818	T622A	probably benign	Het
Pdpk1	A	T	17: 24,098,176		probably benign	Het
Pkhd1	C	A	1: 20,347,457	G2490V	probably damaging	Het
Plekhg1	G	T	10: 3,903,658		probably null	Het
Plekhh2	A	G	17: 84,575,189	Y708C	probably damaging	Het
Pnp	T	C	14: 50,950,329	F107L	probably damaging	Het
Postn	T	A	3: 54,385,287		probably null	Het
Prl3a1	A	T	13: 27,270,194	I52F	probably damaging	Het
Pym1	G	A	10: 128,766,044		probably benign	Het
Rad9a	A	T	19: 4,197,242	I248N	probably damaging	Het
Ror2	T	G	13: 53,110,305	E917A	probably benign	Het
Rsf1	G	A	7: 97,579,910		probably benign	Het
Sema6d	A	G	2: 124,659,556		probably null	Het
Slc4a2	C	T	5: 24,427,620	A12V	probably damaging	Het
Slco6b1	T	G	1: 96,961,176		noncoding transcript	Het
Slf2	A	T	19: 44,935,248	H167L	possibly damaging	Het
Snx9	G	T	17: 5,920,671	G429V	probably damaging	Het
Sod3	G	T	5: 52,368,162	V68L	probably benign	Het
Spta1	T	A	1: 174,246,549	D2351E	probably benign	Het
Srpk3	G	A	X: 73,777,955	R425Q	possibly damaging	Het
Tatdn1	C	T	15: 58,916,156	G171E	probably damaging	Het
Tbc1d22a	T	C	15: 86,235,569	V22A	possibly damaging	Het
Tmem27	A	G	X: 164,118,234	D184G	possibly damaging	Het
Tnfsf9	A	G	17: 57,105,738	T103A	probably benign	Het
Tpm3-rs7	T	C	14: 113,315,163	L163P	possibly damaging	Het
Trim52	T	A	14: 106,106,967	C20S	probably damaging	Het
Ucp1	C	T	8: 83,294,032	T157I	probably damaging	Het
Uspl1	T	A	5: 149,214,414	L794Q	probably benign	Het
Vmn1r5	T	A	6: 56,985,595	V85E	probably damaging	Het
Vmn1r58	A	G	7: 5,410,406	I275T	possibly damaging	Het
Vmn2r79	A	G	7: 87,037,872	I820M	probably damaging	Het
Wscd1	C	A	11: 71,760,218	P124T	probably benign	Het
Zfp780b	A	T	7: 27,963,100	C677S	possibly damaging	Het

Other mutations in Prcp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00765:Prcp	APN	7	92933099	missense	probably benign	0.00
IGL01124:Prcp	APN	7	92910208	missense	probably benign	0.01
IGL01538:Prcp	APN	7	92910213	missense	probably benign	0.09
IGL02005:Prcp	APN	7	92927824	missense	probably benign	0.01
IGL02160:Prcp	APN	7	92917761	missense	probably benign	0.02
IGL02548:Prcp	APN	7	92901174	missense	probably damaging	0.98
R0140:Prcp	UTSW	7	92928611	missense	probably damaging	1.00
R0480:Prcp	UTSW	7	92919082	missense	probably damaging	1.00
R0989:Prcp	UTSW	7	92910216	missense	probably benign	0.04
R1216:Prcp	UTSW	7	92917746	missense	probably benign
R1596:Prcp	UTSW	7	92917834	intron	probably benign
R2132:Prcp	UTSW	7	92901280	missense	probably benign	0.01
R2206:Prcp	UTSW	7	92928612	missense	probably damaging	1.00
R4761:Prcp	UTSW	7	92917725	splice site	probably null
R5000:Prcp	UTSW	7	92919160	missense	probably damaging	0.99
R5320:Prcp	UTSW	7	92928635	missense	probably benign	0.01
R5969:Prcp	UTSW	7	92917766	missense	probably benign	0.01
R6013:Prcp	UTSW	7	92927768	missense	possibly damaging	0.72
R6298:Prcp	UTSW	7	92928633	missense	probably damaging	1.00
R7733:Prcp	UTSW	7	92901298	missense	probably damaging	1.00
R7852:Prcp	UTSW	7	92928692	missense	probably benign	0.33
R8032:Prcp	UTSW	7	92928698	missense	probably damaging	1.00
R8317:Prcp	UTSW	7	92875390	missense	probably benign	0.05
R8869:Prcp	UTSW	7	92910310	missense	possibly damaging	0.75
R9038:Prcp	UTSW	7	92917809	missense	probably benign
R9185:Prcp	UTSW	7	92933049	missense	probably benign
R9333:Prcp	UTSW	7	92928686	missense	probably damaging	0.98
R9643:Prcp	UTSW	7	92875390	missense	probably benign	0.00
R9725:Prcp	UTSW	7	92917827	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- CTGAATGACCTTGAGCCTAGC -3'
(R):5'- GCACAGTGGAAAAGCATCAC -3'

Sequencing Primer
(F):5'- TTGAGCCTAGCTGAATGACC -3'
(R):5'- AATGTTACTTTAGTGCCTACCACC -3'

Posted On

2014-06-23