Incidental Mutation 'R4492:Prss8'
ID |
330779 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Prss8
|
Ensembl Gene |
ENSMUSG00000030800 |
Gene Name |
serine protease 8 (prostasin) |
Synonyms |
fr, mCAP1, 2410039E18Rik, CAP1 |
MMRRC Submission |
041581-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R4492 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
127524889-127529266 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 127528979 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 26
(S26P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000145904
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032988]
[ENSMUST00000033070]
[ENSMUST00000094026]
[ENSMUST00000118755]
[ENSMUST00000141385]
[ENSMUST00000206124]
[ENSMUST00000206568]
[ENSMUST00000156152]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000032988
AA Change: S26P
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000032988 Gene: ENSMUSG00000030800 AA Change: S26P
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
30 |
N/A |
INTRINSIC |
Tryp_SPc
|
44 |
281 |
3.55e-98 |
SMART |
low complexity region
|
320 |
338 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000033070
|
SMART Domains |
Protein: ENSMUSP00000033070 Gene: ENSMUSG00000030801
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
35 |
N/A |
INTRINSIC |
CHROMO
|
69 |
123 |
6.6e-8 |
SMART |
Blast:PHD
|
177 |
214 |
4e-6 |
BLAST |
Pfam:MOZ_SAS
|
235 |
412 |
5.7e-90 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000094026
|
SMART Domains |
Protein: ENSMUSP00000091565 Gene: ENSMUSG00000070371
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
Tryp_SPc
|
47 |
287 |
3.75e-88 |
SMART |
Pfam:Trypsin
|
325 |
556 |
1.2e-16 |
PFAM |
Pfam:Trypsin
|
599 |
798 |
6.6e-20 |
PFAM |
Pfam:DUF1986
|
607 |
707 |
1.4e-9 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000118755
|
SMART Domains |
Protein: ENSMUSP00000112659 Gene: ENSMUSG00000070371
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
Tryp_SPc
|
47 |
287 |
3.75e-88 |
SMART |
Pfam:Trypsin
|
325 |
545 |
9.7e-18 |
PFAM |
Pfam:Trypsin
|
588 |
787 |
6.5e-20 |
PFAM |
Pfam:DUF1986
|
590 |
696 |
8e-10 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000141385
|
SMART Domains |
Protein: ENSMUSP00000120544 Gene: ENSMUSG00000070371
Domain | Start | End | E-Value | Type |
Blast:Tryp_SPc
|
38 |
121 |
3e-44 |
BLAST |
SCOP:d1eaxa_
|
45 |
126 |
7e-10 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144192
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000206124
AA Change: S26P
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000206568
AA Change: S26P
PolyPhen 2
Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152697
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153110
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150591
|
SMART Domains |
Protein: ENSMUSP00000121532 Gene: ENSMUSG00000070371
Domain | Start | End | E-Value | Type |
Tryp_SPc
|
15 |
194 |
6.48e-2 |
SMART |
Blast:Tryp_SPc
|
231 |
311 |
4e-30 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000156152
|
SMART Domains |
Protein: ENSMUSP00000121706 Gene: ENSMUSG00000070371
Domain | Start | End | E-Value | Type |
Blast:Tryp_SPc
|
2 |
44 |
1e-21 |
BLAST |
Tryp_SPc
|
89 |
238 |
8.18e-2 |
SMART |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.9%
|
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 S1 or chymotrypsin family of serine proteases. The encoded preproprotein is proteolytically processed to generate light and heavy chains that associate via a disulfide bond to form the heterodimeric enzyme. This enzyme is highly expressed in prostate epithelia and is one of several proteolytic enzymes found in seminal fluid. This protease exhibits trypsin-like substrate specificity, cleaving protein substrates at the carboxyl terminus of lysine or arginine residues. The encoded protease partially mediates proteolytic activation of the epithelial sodium channel, a regulator of sodium balance, and may also play a role in epithelial barrier formation. [provided by RefSeq, Feb 2016] PHENOTYPE: Nullizygous mutations result in impaired skin barrier function, dehydration, and postnatal lethality. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actr6 |
T |
G |
10: 89,561,676 (GRCm39) |
I157L |
probably benign |
Het |
Amph |
T |
C |
13: 19,333,928 (GRCm39) |
V663A |
possibly damaging |
Het |
Anapc16 |
A |
G |
10: 59,826,724 (GRCm39) |
S50P |
possibly damaging |
Het |
Ank3 |
T |
A |
10: 69,644,755 (GRCm39) |
V60D |
probably damaging |
Het |
Btbd9 |
A |
G |
17: 30,746,545 (GRCm39) |
Y94H |
probably damaging |
Het |
Chil3 |
A |
G |
3: 106,063,017 (GRCm39) |
I191T |
probably damaging |
Het |
Clpb |
T |
C |
7: 101,436,929 (GRCm39) |
L668P |
probably damaging |
Het |
Cyp2d22 |
G |
A |
15: 82,258,571 (GRCm39) |
H97Y |
probably benign |
Het |
Dhrs7 |
A |
T |
12: 72,699,899 (GRCm39) |
N244K |
probably damaging |
Het |
Dusp4 |
C |
T |
8: 35,274,890 (GRCm39) |
T3M |
possibly damaging |
Het |
Edc4 |
GGATTTTAGCCA |
G |
8: 106,611,700 (GRCm39) |
|
probably null |
Het |
Etl4 |
G |
A |
2: 20,811,676 (GRCm39) |
S1621N |
possibly damaging |
Het |
Fam174a |
T |
C |
1: 95,241,701 (GRCm39) |
S54P |
probably benign |
Het |
Fdxacb1 |
T |
C |
9: 50,681,547 (GRCm39) |
F7S |
probably damaging |
Het |
Focad |
G |
A |
4: 88,278,142 (GRCm39) |
|
probably null |
Het |
Gpr156 |
T |
A |
16: 37,812,468 (GRCm39) |
L268H |
probably damaging |
Het |
Gpr17 |
A |
T |
18: 32,080,304 (GRCm39) |
I253N |
possibly damaging |
Het |
H2-T23 |
A |
T |
17: 36,343,058 (GRCm39) |
N106K |
probably damaging |
Het |
Hspa4 |
T |
C |
11: 53,171,296 (GRCm39) |
R303G |
probably damaging |
Het |
Irgm1 |
G |
A |
11: 48,756,955 (GRCm39) |
|
silent |
Het |
Jph1 |
A |
C |
1: 17,067,770 (GRCm39) |
I114S |
probably damaging |
Het |
Kcna1 |
C |
T |
6: 126,619,238 (GRCm39) |
D361N |
possibly damaging |
Het |
Kcna4 |
G |
A |
2: 107,126,436 (GRCm39) |
R390Q |
probably damaging |
Het |
Lum |
C |
A |
10: 97,404,300 (GRCm39) |
P65H |
probably damaging |
Het |
Mc4r |
A |
G |
18: 66,992,711 (GRCm39) |
L134P |
probably benign |
Het |
Mroh8 |
A |
T |
2: 157,099,960 (GRCm39) |
I248N |
probably damaging |
Het |
Nos2 |
A |
G |
11: 78,840,921 (GRCm39) |
T677A |
probably benign |
Het |
Nup37 |
T |
A |
10: 88,010,791 (GRCm39) |
F257I |
possibly damaging |
Het |
Or13c3 |
T |
C |
4: 52,855,764 (GRCm39) |
I250V |
probably benign |
Het |
Or6k6 |
C |
T |
1: 173,944,770 (GRCm39) |
V271I |
probably benign |
Het |
Pdzd2 |
C |
T |
15: 12,385,723 (GRCm39) |
D1016N |
possibly damaging |
Het |
Pdzd2 |
A |
C |
15: 12,419,567 (GRCm39) |
M501R |
possibly damaging |
Het |
Pitx1 |
T |
C |
13: 55,976,465 (GRCm39) |
K65E |
probably benign |
Het |
Pla1a |
C |
T |
16: 38,229,972 (GRCm39) |
A247T |
probably benign |
Het |
Prex2 |
T |
A |
1: 11,232,487 (GRCm39) |
S851R |
probably benign |
Het |
Rasef |
A |
C |
4: 73,652,740 (GRCm39) |
L587R |
probably damaging |
Het |
Rock2 |
T |
A |
12: 17,027,684 (GRCm39) |
C1334S |
probably damaging |
Het |
Rsf1 |
CGGCGGCGG |
CGGCGGCGGGGGCGGCGG |
7: 97,229,130 (GRCm39) |
|
probably benign |
Het |
Serpina6 |
A |
G |
12: 103,613,146 (GRCm39) |
W385R |
probably damaging |
Het |
Slc12a5 |
T |
C |
2: 164,821,263 (GRCm39) |
M249T |
probably benign |
Het |
Srsf9 |
T |
A |
5: 115,470,651 (GRCm39) |
I117N |
probably damaging |
Het |
Taf1 |
G |
T |
X: 100,586,665 (GRCm39) |
M313I |
possibly damaging |
Het |
Tmem30a |
T |
C |
9: 79,684,567 (GRCm39) |
H95R |
probably damaging |
Het |
Top2b |
T |
G |
14: 16,409,189 (GRCm38) |
I777M |
probably damaging |
Het |
Ttc21a |
T |
C |
9: 119,770,346 (GRCm39) |
V139A |
probably benign |
Het |
Zfp236 |
A |
T |
18: 82,648,125 (GRCm39) |
V1012D |
probably damaging |
Het |
Zfp612 |
C |
A |
8: 110,815,929 (GRCm39) |
Q379K |
probably damaging |
Het |
Zfp930 |
C |
T |
8: 69,680,898 (GRCm39) |
Q198* |
probably null |
Het |
|
Other mutations in Prss8 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01737:Prss8
|
APN |
7 |
127,525,752 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT1430001:Prss8
|
UTSW |
7 |
127,521,424 (GRCm39) |
unclassified |
probably benign |
|
R0326:Prss8
|
UTSW |
7 |
127,526,348 (GRCm39) |
missense |
probably benign |
0.17 |
R0786:Prss8
|
UTSW |
7 |
127,525,646 (GRCm39) |
missense |
probably benign |
0.03 |
R1381:Prss8
|
UTSW |
7 |
127,529,021 (GRCm39) |
small deletion |
probably benign |
|
R1919:Prss8
|
UTSW |
7 |
127,529,030 (GRCm39) |
missense |
probably benign |
0.32 |
R2074:Prss8
|
UTSW |
7 |
127,526,266 (GRCm39) |
missense |
possibly damaging |
0.64 |
R2075:Prss8
|
UTSW |
7 |
127,526,266 (GRCm39) |
missense |
possibly damaging |
0.64 |
R4989:Prss8
|
UTSW |
7 |
127,525,635 (GRCm39) |
missense |
probably benign |
0.02 |
R7286:Prss8
|
UTSW |
7 |
127,526,056 (GRCm39) |
missense |
probably damaging |
1.00 |
R7322:Prss8
|
UTSW |
7 |
127,528,735 (GRCm39) |
missense |
probably benign |
|
R9279:Prss8
|
UTSW |
7 |
127,527,082 (GRCm39) |
missense |
probably damaging |
0.97 |
|
Predicted Primers |
PCR Primer
(F):5'- GCAGAAAGCCTCACCTTCAG -3'
(R):5'- TGATCCCACACCTAGATCCTG -3'
Sequencing Primer
(F):5'- CGTCAGCTCCTGGAGGGAAAG -3'
(R):5'- GCCTTCAAAACCAGCCTTCTG -3'
|
Posted On |
2015-07-21 |