Incidental Mutation 'IGL00765:Prcp'
| ID |
13149 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Prcp
|
| Ensembl Gene |
ENSMUSG00000061119 |
| Gene Name |
prolylcarboxypeptidase (angiotensinase C) |
| Synonyms |
2510048K03Rik, 2610104A14Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.089)
|
| Stock # |
IGL00765
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
92524461-92583789 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 92582307 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 431
(S431P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146597
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076052]
[ENSMUST00000207594]
|
| AlphaFold |
Q7TMR0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000076052
AA Change: S466P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000075429
Gene: ENSMUSG00000061119
AA Change: S466P
| 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
AA Change: S431P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc1 |
C |
T |
16: 14,229,372 (GRCm39) |
T368I |
probably damaging |
Het |
| Bub1 |
T |
A |
2: 127,671,392 (GRCm39) |
N64I |
probably damaging |
Het |
| Ccdc97 |
A |
G |
7: 25,414,277 (GRCm39) |
L159P |
probably damaging |
Het |
| Chrnd |
T |
C |
1: 87,123,431 (GRCm39) |
V214A |
probably damaging |
Het |
| Csf2rb2 |
A |
G |
15: 78,176,916 (GRCm39) |
S185P |
probably benign |
Het |
| Dmxl2 |
A |
G |
9: 54,322,706 (GRCm39) |
|
probably benign |
Het |
| Eif3e |
A |
T |
15: 43,141,745 (GRCm39) |
M55K |
probably benign |
Het |
| Ercc6l2 |
T |
C |
13: 63,996,586 (GRCm39) |
V365A |
possibly damaging |
Het |
| Fndc1 |
A |
G |
17: 7,991,525 (GRCm39) |
S724P |
unknown |
Het |
| Htt |
T |
C |
5: 35,034,769 (GRCm39) |
|
probably benign |
Het |
| Ints4 |
C |
T |
7: 97,184,412 (GRCm39) |
T839I |
probably damaging |
Het |
| Lrp6 |
T |
G |
6: 134,518,817 (GRCm39) |
T83P |
probably benign |
Het |
| Lrrc8d |
C |
T |
5: 105,959,818 (GRCm39) |
T76I |
possibly damaging |
Het |
| Nae1 |
T |
C |
8: 105,244,582 (GRCm39) |
|
probably benign |
Het |
| Nlrp14 |
T |
C |
7: 106,789,346 (GRCm39) |
V45A |
possibly damaging |
Het |
| Nrp2 |
C |
A |
1: 62,743,410 (GRCm39) |
S16* |
probably null |
Het |
| Nup155 |
T |
C |
15: 8,182,712 (GRCm39) |
I1225T |
probably benign |
Het |
| Pnpla7 |
G |
T |
2: 24,870,236 (GRCm39) |
A43S |
probably damaging |
Het |
| Rbck1 |
A |
G |
2: 152,172,874 (GRCm39) |
|
probably benign |
Het |
| Smg8 |
T |
C |
11: 86,968,867 (GRCm39) |
E963G |
probably damaging |
Het |
| Tanc1 |
A |
C |
2: 59,636,645 (GRCm39) |
M836L |
probably benign |
Het |
| Tnpo1 |
A |
G |
13: 98,986,612 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Prcp |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
|
|
| Posted On |
2012-12-06 |
Incidental Mutation