Incidental Mutation 'R9333:Prcp'
| ID |
711168 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prcp
|
| Ensembl Gene |
ENSMUSG00000061119 |
| Gene Name |
prolylcarboxypeptidase (angiotensinase C) |
| Synonyms |
2510048K03Rik, 2610104A14Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.089)
|
| Stock # |
R9333 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
92524461-92583789 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 92577894 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 388
(Y388H)
|
| 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: Y388H
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000075429
Gene: ENSMUSG00000061119
AA Change: Y388H
| 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 |
possibly damaging
Transcript: ENSMUST00000207594
AA Change: Y353H
PolyPhen 2
Score 0.838 (Sensitivity: 0.84; Specificity: 0.93)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933427I04Rik |
G |
T |
4: 123,754,416 (GRCm39) |
G110V |
probably benign |
Het |
| Abraxas1 |
T |
C |
5: 100,959,939 (GRCm39) |
S138G |
probably damaging |
Het |
| Aldoart1 |
C |
T |
4: 72,770,367 (GRCm39) |
R147H |
probably benign |
Het |
| Arfgef1 |
C |
A |
1: 10,222,037 (GRCm39) |
E1556* |
probably null |
Het |
| Arhgap39 |
C |
T |
15: 76,619,325 (GRCm39) |
R753H |
probably damaging |
Het |
| Asb2 |
G |
A |
12: 103,311,955 (GRCm39) |
Q56* |
probably null |
Het |
| Atp8b3 |
T |
C |
10: 80,360,180 (GRCm39) |
I964V |
probably benign |
Het |
| Baiap3 |
C |
A |
17: 25,467,676 (GRCm39) |
R338L |
possibly damaging |
Het |
| Clcn4 |
T |
A |
7: 7,292,192 (GRCm39) |
M540L |
probably damaging |
Het |
| Crbn |
T |
C |
6: 106,776,984 (GRCm39) |
H12R |
probably benign |
Het |
| D6Wsu163e |
A |
G |
6: 126,952,096 (GRCm39) |
Y530C |
probably damaging |
Het |
| Dolpp1 |
T |
A |
2: 30,287,140 (GRCm39) |
F191I |
probably damaging |
Het |
| Fam217a |
T |
C |
13: 35,100,876 (GRCm39) |
T94A |
probably benign |
Het |
| Fanci |
T |
C |
7: 79,067,594 (GRCm39) |
W347R |
possibly damaging |
Het |
| Fbxo39 |
A |
T |
11: 72,208,349 (GRCm39) |
N234Y |
probably damaging |
Het |
| Fbxo4 |
A |
G |
15: 3,998,502 (GRCm39) |
S319P |
probably benign |
Het |
| Gm14403 |
A |
G |
2: 177,200,919 (GRCm39) |
N46S |
probably benign |
Het |
| Grm2 |
C |
A |
9: 106,525,416 (GRCm39) |
R433L |
possibly damaging |
Het |
| Gtf2i |
C |
T |
5: 134,271,840 (GRCm39) |
D855N |
probably benign |
Het |
| Hcn2 |
T |
A |
10: 79,561,991 (GRCm39) |
M329K |
possibly damaging |
Het |
| Hsd3b3 |
T |
C |
3: 98,649,216 (GRCm39) |
D369G |
probably benign |
Het |
| Kctd12 |
T |
C |
14: 103,219,054 (GRCm39) |
K275E |
probably damaging |
Het |
| Klra4 |
T |
A |
6: 130,021,080 (GRCm39) |
K238N |
probably damaging |
Het |
| Kremen2 |
T |
A |
17: 23,962,775 (GRCm39) |
T104S |
probably damaging |
Het |
| Lmf2 |
G |
A |
15: 89,239,577 (GRCm39) |
L26F |
probably damaging |
Het |
| Mageb3 |
A |
T |
2: 121,784,973 (GRCm39) |
V243E |
probably damaging |
Het |
| Mfsd10 |
A |
G |
5: 34,792,427 (GRCm39) |
V258A |
probably damaging |
Het |
| Myh10 |
A |
C |
11: 68,680,980 (GRCm39) |
Q1007P |
probably benign |
Het |
| Ndufaf5 |
A |
G |
2: 140,035,513 (GRCm39) |
E243G |
probably benign |
Het |
| Or2ag16 |
T |
C |
7: 106,351,782 (GRCm39) |
D271G |
probably damaging |
Het |
| Orm3 |
T |
C |
4: 63,274,528 (GRCm39) |
I31T |
probably damaging |
Het |
| Pgm2 |
C |
A |
5: 64,263,100 (GRCm39) |
T249K |
probably benign |
Het |
| Prmt3 |
T |
G |
7: 49,456,308 (GRCm39) |
I306M |
probably damaging |
Het |
| Rag2 |
A |
T |
2: 101,460,752 (GRCm39) |
D354V |
probably benign |
Het |
| Reep1 |
A |
G |
6: 71,772,198 (GRCm39) |
D162G |
probably damaging |
Het |
| Rnpep |
A |
T |
1: 135,191,862 (GRCm39) |
W575R |
probably damaging |
Het |
| Rpl28 |
T |
C |
7: 4,796,079 (GRCm39) |
|
probably benign |
Het |
| Ryr1 |
A |
C |
7: 28,774,214 (GRCm39) |
|
probably null |
Het |
| Spg11 |
G |
A |
2: 121,932,244 (GRCm39) |
R533C |
probably damaging |
Het |
| Tcf7l2 |
C |
A |
19: 55,919,928 (GRCm39) |
S487* |
probably null |
Het |
| Usp39 |
T |
C |
6: 72,314,710 (GRCm39) |
N232S |
probably benign |
Het |
| Vmn2r26 |
C |
T |
6: 124,003,009 (GRCm39) |
P140S |
probably benign |
Het |
| Vmn2r34 |
C |
T |
7: 7,675,367 (GRCm39) |
V674I |
probably benign |
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 |
|
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 |
|
|
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'- TGAGCCTAGCTGAATGACCTTTC -3'
(R):5'- TGGCACTCAATAGCACAGTG -3'
Sequencing Primer
(F):5'- CACAGAAATGGTCATGCC -3'
(R):5'- TCAATAGCACAGTGGAAAAGCATC -3'
|
| Posted On |
2022-05-16 |
Incidental Mutation