Incidental Mutation 'R6298:Prcp'
ID 508897
Institutional Source Beutler Lab
Gene Symbol Prcp
Ensembl Gene ENSMUSG00000061119
Gene Name prolylcarboxypeptidase (angiotensinase C)
Synonyms 2510048K03Rik, 2610104A14Rik
MMRRC Submission 044408-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.103) question?
Stock # R6298 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 92524461-92583789 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 92577841 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Phenylalanine at position 370 (C370F)
Ref Sequence ENSEMBL: ENSMUSP00000075429 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076052] [ENSMUST00000207594]
AlphaFold Q7TMR0
Predicted Effect probably damaging
Transcript: ENSMUST00000076052
AA Change: C370F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000075429
Gene: ENSMUSG00000061119
AA Change: C370F

DomainStartEndE-ValueType
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: C335F

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
Meta Mutation Damage Score 0.9564 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.5%
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: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abtb2 A T 2: 103,539,833 (GRCm39) M733L probably benign Het
Acss3 G A 10: 106,920,717 (GRCm39) P131L probably damaging Het
Adgrv1 T A 13: 81,539,886 (GRCm39) I5678F probably benign Het
Aff1 C T 5: 103,902,586 (GRCm39) L6F possibly damaging Het
Ank3 G T 10: 69,686,006 (GRCm39) R273L probably damaging Het
Anks1b G A 10: 90,516,699 (GRCm39) G898D probably damaging Het
Anxa11 C T 14: 25,873,158 (GRCm39) P131S unknown Het
Ap4e1 T A 2: 126,889,035 (GRCm39) M500K probably benign Het
Bag3 T C 7: 128,141,922 (GRCm39) S138P probably damaging Het
Capn9 T C 8: 125,344,193 (GRCm39) V670A probably benign Het
Ccne2 T A 4: 11,199,306 (GRCm39) W236R probably damaging Het
Cdh23 A T 10: 60,262,451 (GRCm39) Y702* probably null Het
Chd1l G A 3: 97,494,483 (GRCm39) A399V probably damaging Het
Cit A T 5: 116,086,124 (GRCm39) E896V probably damaging Het
Cntln T A 4: 85,014,998 (GRCm39) N1096K probably damaging Het
Cntnap5c T C 17: 58,411,747 (GRCm39) C544R probably damaging Het
Csf1 A T 3: 107,655,675 (GRCm39) L452Q possibly damaging Het
Cts8 T A 13: 61,397,037 (GRCm39) K294N possibly damaging Het
Dcakd T G 11: 102,890,618 (GRCm39) E56D possibly damaging Het
Dnah17 T C 11: 117,998,987 (GRCm39) I929V probably benign Het
Dnah2 G T 11: 69,382,467 (GRCm39) H1214Q probably benign Het
Dock9 T C 14: 121,872,006 (GRCm39) D536G probably damaging Het
Drc3 A G 11: 60,284,596 (GRCm39) N467S possibly damaging Het
Dysf A G 6: 84,084,118 (GRCm39) probably null Het
Ecpas T G 4: 58,877,157 (GRCm39) T93P probably damaging Het
Evpl A T 11: 116,121,748 (GRCm39) L378Q probably damaging Het
Fer1l4 A T 2: 155,866,660 (GRCm39) H1520Q probably damaging Het
Fhod1 A T 8: 106,063,780 (GRCm39) probably benign Het
Gabra1 T A 11: 42,073,205 (GRCm39) probably benign Het
Gm10549 C A 18: 33,597,358 (GRCm39) probably benign Het
Gm14137 A G 2: 119,005,572 (GRCm39) T44A possibly damaging Het
H2bl1 T A 13: 99,120,974 (GRCm39) R17S probably benign Het
Herc2 T C 7: 55,841,013 (GRCm39) M3444T probably benign Het
Igsf5 T C 16: 96,197,648 (GRCm39) S208P possibly damaging Het
Ino80b A G 6: 83,102,066 (GRCm39) L12P possibly damaging Het
Insrr A G 3: 87,720,272 (GRCm39) D970G probably damaging Het
Iqcf4 G A 9: 106,445,874 (GRCm39) A91V probably benign Het
Itga10 A G 3: 96,564,078 (GRCm39) T911A probably benign Het
Katnip T C 7: 125,469,869 (GRCm39) V1446A probably benign Het
Klhl30 A T 1: 91,285,086 (GRCm39) D314V probably benign Het
Lpcat1 T C 13: 73,659,074 (GRCm39) V330A possibly damaging Het
Myef2l T C 3: 10,154,239 (GRCm39) I336T probably damaging Het
Nhlrc3 A T 3: 53,359,944 (GRCm39) D306E possibly damaging Het
Notum T A 11: 120,548,766 (GRCm39) I187F probably damaging Het
Nphp3 T C 9: 103,892,640 (GRCm39) L288P probably damaging Het
Ntrk2 G T 13: 59,019,570 (GRCm39) E394* probably null Het
Or6k2 T A 1: 173,979,748 (GRCm39) V222D probably benign Het
Pbld2 A G 10: 62,874,931 (GRCm39) K63E probably benign Het
Phc2 T C 4: 128,641,982 (GRCm39) M768T possibly damaging Het
Pik3c2g G A 6: 139,603,561 (GRCm39) C249Y probably damaging Het
Plod1 G A 4: 148,000,772 (GRCm39) probably benign Het
Plscr2 A T 9: 92,172,772 (GRCm39) T9S probably benign Het
Pnrc1 T A 4: 33,246,315 (GRCm39) M215L probably benign Het
Pter A G 2: 12,983,205 (GRCm39) N70S probably damaging Het
Ptprt G T 2: 161,395,779 (GRCm39) H1131Q probably damaging Het
Rasal2 T C 1: 157,239,432 (GRCm39) D8G possibly damaging Het
Rcn2 A C 9: 55,960,209 (GRCm39) K159Q probably benign Het
Rex2 T A 4: 147,141,972 (GRCm39) C153* probably null Het
Rps6ka2 T C 17: 7,437,766 (GRCm39) F8S possibly damaging Het
Samd9l A G 6: 3,375,383 (GRCm39) L626S probably damaging Het
Sptb A G 12: 76,667,428 (GRCm39) probably null Het
Srgap3 A T 6: 112,793,571 (GRCm39) V135D probably damaging Het
Srsf7 T C 17: 80,514,682 (GRCm39) probably benign Het
Tacc2 A G 7: 130,228,255 (GRCm39) T1647A probably benign Het
Thap12 G T 7: 98,352,612 (GRCm39) A6S probably damaging Het
Tmem33 T A 5: 67,425,894 (GRCm39) L146* probably null Het
Trip13 C A 13: 74,084,378 (GRCm39) E36* probably null Het
Vkorc1l1 T A 5: 129,971,079 (GRCm39) C23S probably damaging Het
Vmn1r20 G A 6: 57,409,112 (GRCm39) R146H probably benign Het
Vmn1r222 T A 13: 23,416,965 (GRCm39) I83F probably benign Het
Vmn2r107 A T 17: 20,576,044 (GRCm39) I125F probably benign Het
Vmn2r116 A G 17: 23,605,736 (GRCm39) D216G probably damaging Het
Vwa3a C T 7: 120,394,874 (GRCm39) T898I probably benign Het
Wdfy3 T C 5: 102,116,812 (GRCm39) D76G probably damaging Het
Wdhd1 T C 14: 47,510,579 (GRCm39) D148G possibly damaging Het
Xylt1 T C 7: 117,255,960 (GRCm39) I844T probably damaging Het
Zfp106 A T 2: 120,353,185 (GRCm39) V1535D probably damaging Het
Zfp385b A T 2: 77,244,323 (GRCm39) L315Q possibly damaging Het
Zfp458 T A 13: 67,404,870 (GRCm39) H523L probably damaging Het
Zfp712 T C 13: 67,189,393 (GRCm39) H378R probably damaging Het
Zic1 T C 9: 91,246,556 (GRCm39) Y172C probably damaging Het
Other mutations in Prcp
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- CCTAGCTGAATGACCTTGACCC -3'
(R):5'- GTTTTCTCAGCCATCCTGCAAG -3'

Sequencing Primer
(F):5'- GACCCCGGCTAAATGACTTTG -3'
(R):5'- TGCAAGTGTCTCCATCAACCAG -3'
Posted On 2018-04-02