Incidental Mutation 'R6013:Prcp'
ID 479853
Institutional Source Beutler Lab
Gene Symbol Prcp
Ensembl Gene ENSMUSG00000061119
Gene Name prolylcarboxypeptidase (angiotensinase C)
Synonyms 2510048K03Rik, 2610104A14Rik
MMRRC Submission 044189-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.103) question?
Stock # R6013 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 92524461-92583789 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 92576976 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Serine at position 335 (Y335S)
Ref Sequence ENSEMBL: ENSMUSP00000075429 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076052] [ENSMUST00000207594]
AlphaFold Q7TMR0
Predicted Effect possibly damaging
Transcript: ENSMUST00000076052
AA Change: Y335S

PolyPhen 2 Score 0.723 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000075429
Gene: ENSMUSG00000061119
AA Change: Y335S

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 possibly damaging
Transcript: ENSMUST00000207594
AA Change: Y300S

PolyPhen 2 Score 0.483 (Sensitivity: 0.89; Specificity: 0.90)
Meta Mutation Damage Score 0.8322 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.5%
Validation Efficiency 98% (54/55)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700008P02Rik C T 3: 6,682,310 (GRCm39) probably null Het
Aanat A T 11: 116,486,950 (GRCm39) probably null Het
Abca17 A T 17: 24,506,820 (GRCm39) V1178E possibly damaging Het
Abcf3 T A 16: 20,369,311 (GRCm39) probably null Het
Alk A G 17: 72,207,732 (GRCm39) M1001T probably benign Het
Arhgap23 C A 11: 97,391,818 (GRCm39) S1445Y probably damaging Het
Atp10a T C 7: 58,447,538 (GRCm39) I760T probably benign Het
Cadm1 C T 9: 47,768,572 (GRCm39) probably benign Het
Car10 A T 11: 93,076,105 (GRCm39) probably benign Het
Casq2 G T 3: 102,052,945 (GRCm39) probably null Het
Cemip2 G A 19: 21,809,403 (GRCm39) V928I possibly damaging Het
Clec4f T C 6: 83,632,070 (GRCm39) I55V probably benign Het
Cngb1 T C 8: 96,010,949 (GRCm39) probably benign Het
Csn1s2b A G 5: 87,972,098 (GRCm39) probably null Het
Cyp2c39 A C 19: 39,501,969 (GRCm39) R119S probably benign Het
Cyp4f16 C T 17: 32,765,652 (GRCm39) A345V probably null Het
Ddx43 T C 9: 78,321,567 (GRCm39) L412S probably damaging Het
Dnajb12 G A 10: 59,730,163 (GRCm39) probably null Het
Ephx2 A G 14: 66,347,691 (GRCm39) S56P probably benign Het
Fam83h A G 15: 75,875,849 (GRCm39) F496S probably damaging Het
Gcnt4 T C 13: 97,083,786 (GRCm39) S361P possibly damaging Het
H2-T23 G T 17: 36,341,474 (GRCm39) H332Q probably benign Het
Hrob T C 11: 102,145,859 (GRCm39) V45A probably benign Het
Ift57 G T 16: 49,519,667 (GRCm39) probably null Het
Il1rl2 A G 1: 40,391,017 (GRCm39) H320R possibly damaging Het
Kansl1 A G 11: 104,241,465 (GRCm39) V618A probably benign Het
Kctd3 T C 1: 188,728,665 (GRCm39) E157G probably benign Het
Magohb T A 6: 131,270,037 (GRCm39) D31V possibly damaging Het
Mdn1 C A 4: 32,715,713 (GRCm39) F1993L probably damaging Het
Med29 C A 7: 28,086,418 (GRCm39) C130F probably benign Het
Mtmr7 G A 8: 41,034,570 (GRCm39) R251C probably damaging Het
Ncor1 T C 11: 62,211,903 (GRCm39) I49V probably benign Het
Nfkb1 G T 3: 135,332,445 (GRCm39) T109K possibly damaging Het
Pkd1l1 A G 11: 8,819,452 (GRCm39) probably null Het
Pkp1 T A 1: 135,811,648 (GRCm39) T408S probably damaging Het
Plec A T 15: 76,073,510 (GRCm39) D501E possibly damaging Het
Reg2 T A 6: 78,384,952 (GRCm39) Y165N possibly damaging Het
Rnf7 T C 9: 96,353,787 (GRCm39) *114W probably null Het
Scg3 T C 9: 75,584,090 (GRCm39) D137G probably damaging Het
Serpinb7 T C 1: 107,377,919 (GRCm39) V204A probably benign Het
Sez6 C T 11: 77,864,623 (GRCm39) H528Y probably damaging Het
Sf3b1 A T 1: 55,039,457 (GRCm39) S723T probably damaging Het
Shtn1 T C 19: 58,963,533 (GRCm39) D594G probably damaging Het
Sptbn4 A G 7: 27,063,904 (GRCm39) L2174P probably damaging Het
Stk25 A G 1: 93,553,181 (GRCm39) probably null Het
Tep1 A T 14: 51,098,505 (GRCm39) F429I probably damaging Het
Thada T A 17: 84,580,228 (GRCm39) I1409F probably benign Het
Usp25 G A 16: 76,873,909 (GRCm39) G495E probably benign Het
Washc2 A G 6: 116,231,114 (GRCm39) S844G probably damaging Het
Xirp2 A T 2: 67,341,287 (GRCm39) H1176L possibly damaging Het
Ypel1 T C 16: 16,918,129 (GRCm39) N96D probably damaging Het
Zfand6 C A 7: 84,281,900 (GRCm39) V110L probably benign Het
Zfp30 A G 7: 29,488,846 (GRCm39) R8G possibly 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
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'- TACAGGCAATTGTCTCCAGCTG -3'
(R):5'- CCATGTAGCAACTTTACATTGGC -3'

Sequencing Primer
(F):5'- GGCCTGCAACTGCTAAA -3'
(R):5'- GTAGCAACTTTACATTGGCCAGAC -3'
Posted On 2017-06-26