Incidental Mutation 'IGL03349:Prss23'
| ID |
419607 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Prss23
|
| Ensembl Gene |
ENSMUSG00000039405 |
| Gene Name |
serine protease 23 |
| Synonyms |
2310046G15Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.062)
|
| Stock # |
IGL03349
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
89156991-89176395 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 89159065 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 335
(I335V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147183
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041761]
[ENSMUST00000207538]
[ENSMUST00000207636]
[ENSMUST00000207932]
[ENSMUST00000208402]
[ENSMUST00000208888]
[ENSMUST00000208903]
|
| AlphaFold |
Q9D6X6 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000032858
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000041761
AA Change: I335V
PolyPhen 2
Score 0.087 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000045191
Gene: ENSMUSG00000039405
AA Change: I335V
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
low complexity region
|
48 |
57 |
N/A |
INTRINSIC |
|
Tryp_SPc
|
137 |
372 |
2.87e-2 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000179361
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207538
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207636
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207932
AA Change: I335V
PolyPhen 2
Score 0.087 (Sensitivity: 0.93; Specificity: 0.85)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208402
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208888
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208903
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209118
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209064
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208814
|
| 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 conserved member of the trypsin family of serine proteases. Mouse studies found a decrease of mRNA levels of this gene after ovulation was induced. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
A |
G |
13: 81,629,455 (GRCm39) |
Y3648H |
probably benign |
Het |
| Akr1c20 |
T |
A |
13: 4,558,249 (GRCm39) |
R172* |
probably null |
Het |
| Apba1 |
A |
T |
19: 23,894,939 (GRCm39) |
E458D |
probably benign |
Het |
| Atg2a |
T |
A |
19: 6,308,054 (GRCm39) |
V1590D |
possibly damaging |
Het |
| Atp13a4 |
A |
G |
16: 29,275,489 (GRCm39) |
S332P |
probably benign |
Het |
| Atp8b2 |
A |
T |
3: 89,865,124 (GRCm39) |
F163I |
probably damaging |
Het |
| Azin2 |
A |
T |
4: 128,839,907 (GRCm39) |
Y228* |
probably null |
Het |
| Cd109 |
C |
T |
9: 78,543,767 (GRCm39) |
H104Y |
probably benign |
Het |
| Ces2a |
G |
T |
8: 105,460,712 (GRCm39) |
L3F |
probably damaging |
Het |
| Crebbp |
A |
G |
16: 3,935,222 (GRCm39) |
V889A |
possibly damaging |
Het |
| Crim1 |
A |
T |
17: 78,662,579 (GRCm39) |
K801* |
probably null |
Het |
| Cxcr1 |
T |
C |
1: 74,231,687 (GRCm39) |
T112A |
possibly damaging |
Het |
| Cyp1a2 |
A |
G |
9: 57,587,158 (GRCm39) |
S378P |
possibly damaging |
Het |
| Cyp2c67 |
T |
C |
19: 39,632,128 (GRCm39) |
Y80C |
probably damaging |
Het |
| Dennd4a |
T |
C |
9: 64,796,256 (GRCm39) |
W761R |
probably damaging |
Het |
| Dgki |
C |
T |
6: 37,074,562 (GRCm39) |
|
probably null |
Het |
| Dnase1l3 |
T |
C |
14: 7,984,146 (GRCm38) |
T89A |
probably benign |
Het |
| Dock4 |
C |
A |
12: 40,783,309 (GRCm39) |
Q748K |
probably benign |
Het |
| Elmo3 |
A |
G |
8: 106,033,020 (GRCm39) |
E68G |
possibly damaging |
Het |
| Fer1l4 |
C |
A |
2: 155,886,654 (GRCm39) |
E692* |
probably null |
Het |
| Fkbp9 |
T |
A |
6: 56,826,703 (GRCm39) |
M101K |
probably damaging |
Het |
| Grin1 |
C |
A |
2: 25,200,448 (GRCm39) |
V225L |
probably benign |
Het |
| Gucy2d |
T |
C |
7: 98,099,048 (GRCm39) |
V288A |
possibly damaging |
Het |
| Heatr5b |
C |
A |
17: 79,062,749 (GRCm39) |
K1933N |
probably benign |
Het |
| Hsdl1 |
A |
T |
8: 120,292,436 (GRCm39) |
S260T |
probably benign |
Het |
| Hspg2 |
T |
C |
4: 137,287,833 (GRCm39) |
|
probably benign |
Het |
| Ift172 |
A |
T |
5: 31,441,474 (GRCm39) |
V220E |
probably benign |
Het |
| Igkv12-47 |
C |
T |
6: 69,727,850 (GRCm39) |
|
noncoding transcript |
Het |
| Ism1 |
C |
T |
2: 139,573,895 (GRCm39) |
R82* |
probably null |
Het |
| Lrch3 |
A |
G |
16: 32,775,694 (GRCm39) |
T187A |
probably damaging |
Het |
| Ltbr |
T |
A |
6: 125,289,329 (GRCm39) |
D160V |
probably damaging |
Het |
| Lypd11 |
T |
A |
7: 24,422,261 (GRCm39) |
S163C |
probably damaging |
Het |
| Mark3 |
A |
T |
12: 111,594,684 (GRCm39) |
K353I |
probably benign |
Het |
| Mrm3 |
A |
T |
11: 76,140,772 (GRCm39) |
H260L |
probably damaging |
Het |
| Nckap1 |
T |
C |
2: 80,355,904 (GRCm39) |
Q627R |
probably benign |
Het |
| Neb |
T |
A |
2: 52,168,964 (GRCm39) |
Y1857F |
possibly damaging |
Het |
| Ntsr1 |
A |
G |
2: 180,142,295 (GRCm39) |
T29A |
probably benign |
Het |
| Ofcc1 |
C |
T |
13: 40,226,228 (GRCm39) |
G768D |
probably benign |
Het |
| Or5k17 |
T |
C |
16: 58,746,323 (GRCm39) |
M204V |
probably benign |
Het |
| Pde8b |
T |
C |
13: 95,179,551 (GRCm39) |
|
probably benign |
Het |
| Pld4 |
A |
T |
12: 112,734,313 (GRCm39) |
Q393L |
probably benign |
Het |
| Prune2 |
A |
G |
19: 17,100,710 (GRCm39) |
I2071M |
probably damaging |
Het |
| Ptprz1 |
T |
A |
6: 23,000,331 (GRCm39) |
V807E |
probably damaging |
Het |
| Rnf20 |
G |
A |
4: 49,655,936 (GRCm39) |
A961T |
probably damaging |
Het |
| Slc25a24 |
A |
G |
3: 109,056,865 (GRCm39) |
Q126R |
possibly damaging |
Het |
| Slc35e1 |
A |
T |
8: 73,237,696 (GRCm39) |
Y382N |
probably damaging |
Het |
| Snrpn |
C |
T |
7: 59,635,613 (GRCm39) |
G129D |
probably damaging |
Het |
| Spag9 |
A |
T |
11: 93,984,335 (GRCm39) |
N386I |
possibly damaging |
Het |
| Ssna1 |
T |
C |
2: 25,161,542 (GRCm39) |
N102D |
possibly damaging |
Het |
| Tex21 |
A |
T |
12: 76,268,365 (GRCm39) |
I139N |
probably benign |
Het |
| Trgc2 |
T |
A |
13: 19,489,346 (GRCm39) |
T129S |
probably benign |
Het |
| Trim21 |
T |
C |
7: 102,212,484 (GRCm39) |
T161A |
probably benign |
Het |
| Vmn2r82 |
T |
A |
10: 79,213,703 (GRCm39) |
H96Q |
probably benign |
Het |
|
| Other mutations in Prss23 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01296:Prss23
|
APN |
7 |
89,159,095 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
IGL03308:Prss23
|
APN |
7 |
89,158,938 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL03378:Prss23
|
APN |
7 |
89,159,352 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0394:Prss23
|
UTSW |
7 |
89,159,055 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1026:Prss23
|
UTSW |
7 |
89,159,166 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1417:Prss23
|
UTSW |
7 |
89,159,392 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1467:Prss23
|
UTSW |
7 |
89,159,217 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1467:Prss23
|
UTSW |
7 |
89,159,217 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1691:Prss23
|
UTSW |
7 |
89,159,922 (GRCm39) |
missense |
probably benign |
0.18 |
|
R1806:Prss23
|
UTSW |
7 |
89,159,599 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2153:Prss23
|
UTSW |
7 |
89,159,119 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3420:Prss23
|
UTSW |
7 |
89,159,107 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R3849:Prss23
|
UTSW |
7 |
89,158,959 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4567:Prss23
|
UTSW |
7 |
89,160,074 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R4828:Prss23
|
UTSW |
7 |
89,159,108 (GRCm39) |
nonsense |
probably null |
|
|
R5010:Prss23
|
UTSW |
7 |
89,159,422 (GRCm39) |
missense |
probably benign |
0.25 |
|
R5251:Prss23
|
UTSW |
7 |
89,159,530 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5399:Prss23
|
UTSW |
7 |
89,159,174 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5629:Prss23
|
UTSW |
7 |
89,159,400 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5697:Prss23
|
UTSW |
7 |
89,159,190 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6378:Prss23
|
UTSW |
7 |
89,159,241 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6716:Prss23
|
UTSW |
7 |
89,159,055 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6880:Prss23
|
UTSW |
7 |
89,160,033 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7097:Prss23
|
UTSW |
7 |
89,159,392 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7362:Prss23
|
UTSW |
7 |
89,158,972 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7563:Prss23
|
UTSW |
7 |
89,159,038 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7637:Prss23
|
UTSW |
7 |
89,159,454 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7815:Prss23
|
UTSW |
7 |
89,159,253 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8047:Prss23
|
UTSW |
7 |
89,159,136 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8548:Prss23
|
UTSW |
7 |
89,159,416 (GRCm39) |
missense |
probably benign |
0.21 |
|
R8869:Prss23
|
UTSW |
7 |
89,159,887 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8914:Prss23
|
UTSW |
7 |
89,159,854 (GRCm39) |
missense |
probably benign |
|
|
R9310:Prss23
|
UTSW |
7 |
89,159,142 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9729:Prss23
|
UTSW |
7 |
89,159,931 (GRCm39) |
missense |
probably benign |
|
|
R9762:Prss23
|
UTSW |
7 |
89,159,683 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation