Incidental Mutation 'IGL00843:Prss32'
| ID |
13188 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Prss32
|
| Ensembl Gene |
ENSMUSG00000048992 |
| Gene Name |
serine protease 32 |
| Synonyms |
mT5, 2010001P08Rik, tryptase-5 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.074)
|
| Stock # |
IGL00843
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
24072746-24078750 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 24076336 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 233
(L233Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000050389
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061725]
[ENSMUST00000154347]
|
| AlphaFold |
E9Q409 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000061725
AA Change: L233Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000050389
Gene: ENSMUSG00000048992
AA Change: L233Q
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
low complexity region
|
24 |
34 |
N/A |
INTRINSIC |
|
Tryp_SPc
|
53 |
292 |
2.75e-95 |
SMART |
|
transmembrane domain
|
310 |
332 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144925
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000154347
|
| SMART Domains |
Protein: ENSMUSP00000116979
Gene: ENSMUSG00000048992
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
low complexity region
|
24 |
34 |
N/A |
INTRINSIC |
|
SCOP:g1fiw.1
|
42 |
68 |
6e-8 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161395
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bglap |
A |
G |
3: 88,291,657 (GRCm39) |
|
probably null |
Het |
| Bpnt2 |
T |
C |
4: 4,776,308 (GRCm39) |
|
probably benign |
Het |
| Clcn2 |
T |
C |
16: 20,522,391 (GRCm39) |
T772A |
probably benign |
Het |
| Cldn18 |
A |
T |
9: 99,580,874 (GRCm39) |
F125I |
probably benign |
Het |
| Ehhadh |
A |
G |
16: 21,581,379 (GRCm39) |
S538P |
possibly damaging |
Het |
| Ets2 |
T |
G |
16: 95,510,837 (GRCm39) |
F32V |
probably benign |
Het |
| F5 |
G |
A |
1: 164,039,360 (GRCm39) |
R1990Q |
probably benign |
Het |
| Fetub |
A |
G |
16: 22,748,379 (GRCm39) |
|
probably benign |
Het |
| Hecw1 |
C |
T |
13: 14,422,158 (GRCm39) |
E983K |
probably benign |
Het |
| Hemgn |
A |
G |
4: 46,396,240 (GRCm39) |
M332T |
probably benign |
Het |
| Hmcn1 |
A |
G |
1: 150,486,464 (GRCm39) |
I4314T |
possibly damaging |
Het |
| Lonrf2 |
C |
A |
1: 38,851,616 (GRCm39) |
|
probably benign |
Het |
| Lrrc9 |
T |
C |
12: 72,510,191 (GRCm39) |
I430T |
possibly damaging |
Het |
| Lrrk2 |
T |
C |
15: 91,641,261 (GRCm39) |
V1606A |
possibly damaging |
Het |
| Oog2 |
G |
T |
4: 143,921,742 (GRCm39) |
L217F |
probably damaging |
Het |
| Plxnc1 |
T |
C |
10: 94,683,411 (GRCm39) |
H791R |
probably benign |
Het |
| Prdm2 |
G |
A |
4: 142,860,884 (GRCm39) |
S802L |
probably damaging |
Het |
| Rapgef6 |
T |
A |
11: 54,582,099 (GRCm39) |
V1337E |
probably benign |
Het |
| Slc15a3 |
T |
A |
19: 10,830,627 (GRCm39) |
M326K |
probably null |
Het |
| Slc25a54 |
A |
T |
3: 109,020,176 (GRCm39) |
T397S |
possibly damaging |
Het |
| Slfn3 |
C |
T |
11: 83,104,257 (GRCm39) |
T376M |
probably damaging |
Het |
| Stradb |
T |
A |
1: 59,033,568 (GRCm39) |
D410E |
probably benign |
Het |
| Tdh |
T |
C |
14: 63,733,213 (GRCm39) |
T178A |
probably damaging |
Het |
| Tspan12 |
T |
A |
6: 21,851,081 (GRCm39) |
|
probably benign |
Het |
| Ube2b |
A |
T |
11: 51,886,202 (GRCm39) |
D50E |
probably benign |
Het |
| Zranb1 |
A |
C |
7: 132,551,622 (GRCm39) |
H117P |
probably benign |
Het |
|
| Other mutations in Prss32 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00942:Prss32
|
APN |
17 |
24,078,134 (GRCm39) |
nonsense |
probably null |
|
|
IGL01593:Prss32
|
APN |
17 |
24,074,982 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01764:Prss32
|
APN |
17 |
24,075,085 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02313:Prss32
|
APN |
17 |
24,075,096 (GRCm39) |
missense |
probably benign |
0.17 |
|
IGL02625:Prss32
|
APN |
17 |
24,075,210 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
P0045:Prss32
|
UTSW |
17 |
24,078,294 (GRCm39) |
missense |
probably benign |
0.23 |
|
R1867:Prss32
|
UTSW |
17 |
24,072,868 (GRCm39) |
missense |
probably benign |
0.07 |
|
R1936:Prss32
|
UTSW |
17 |
24,075,024 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R2184:Prss32
|
UTSW |
17 |
24,078,297 (GRCm39) |
missense |
probably benign |
0.38 |
|
R4913:Prss32
|
UTSW |
17 |
24,078,157 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5049:Prss32
|
UTSW |
17 |
24,078,221 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R7076:Prss32
|
UTSW |
17 |
24,072,895 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R9135:Prss32
|
UTSW |
17 |
24,078,199 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
| Posted On |
2012-12-06 |
Incidental Mutation