Incidental Mutation 'IGL03308:Prss23'
| ID |
416456 |
| 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: 0.061)
|
| Stock # |
IGL03308
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
89156991-89176395 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 89158938 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Arginine
at position 377
(L377R)
|
| 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: L377R
PolyPhen 2
Score 0.093 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000045191
Gene: ENSMUSG00000039405
AA Change: L377R
| 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: L377R
PolyPhen 2
Score 0.093 (Sensitivity: 0.93; Specificity: 0.85)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208402
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209064
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209118
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208814
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208888
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208903
|
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl3 |
T |
C |
4: 144,182,821 (GRCm39) |
I216V |
probably damaging |
Het |
| Abcc1 |
A |
G |
16: 14,288,475 (GRCm39) |
I1367V |
possibly damaging |
Het |
| Ap1g2 |
T |
A |
14: 55,342,333 (GRCm39) |
I175F |
probably benign |
Het |
| Atad2 |
A |
G |
15: 57,965,919 (GRCm39) |
V671A |
probably benign |
Het |
| Ccdc134 |
A |
G |
15: 82,015,721 (GRCm39) |
D67G |
probably damaging |
Het |
| Cdk17 |
G |
A |
10: 93,057,506 (GRCm39) |
|
probably null |
Het |
| Col3a1 |
A |
G |
1: 45,369,777 (GRCm39) |
|
probably benign |
Het |
| Col5a3 |
A |
G |
9: 20,719,675 (GRCm39) |
L228P |
unknown |
Het |
| Eef1a2 |
A |
G |
2: 180,790,629 (GRCm39) |
|
probably benign |
Het |
| Fars2 |
T |
G |
13: 36,388,670 (GRCm39) |
I53R |
possibly damaging |
Het |
| Frmd4a |
G |
T |
2: 4,502,837 (GRCm39) |
A98S |
possibly damaging |
Het |
| Gprin1 |
T |
A |
13: 54,887,957 (GRCm39) |
M106L |
probably benign |
Het |
| Hspb8 |
T |
C |
5: 116,547,401 (GRCm39) |
T194A |
possibly damaging |
Het |
| Ift27 |
A |
G |
15: 78,050,215 (GRCm39) |
S65P |
probably damaging |
Het |
| Inpp5d |
A |
C |
1: 87,630,919 (GRCm39) |
Y430S |
probably damaging |
Het |
| Kat6b |
T |
C |
14: 21,674,902 (GRCm39) |
S356P |
probably damaging |
Het |
| Limch1 |
C |
T |
5: 67,159,901 (GRCm39) |
T443M |
possibly damaging |
Het |
| Mcf2l |
C |
T |
8: 13,059,512 (GRCm39) |
R708C |
probably damaging |
Het |
| Mlf1 |
T |
C |
3: 67,305,140 (GRCm39) |
W214R |
probably damaging |
Het |
| Naga |
A |
T |
15: 82,220,088 (GRCm39) |
L153Q |
probably damaging |
Het |
| Nbas |
A |
G |
12: 13,374,349 (GRCm39) |
Q559R |
possibly damaging |
Het |
| Or2ab1 |
T |
C |
11: 58,488,525 (GRCm39) |
F101S |
probably damaging |
Het |
| Or2t6 |
T |
A |
14: 14,175,161 (GRCm38) |
H307L |
probably benign |
Het |
| Prex2 |
A |
G |
1: 11,255,399 (GRCm39) |
D1148G |
possibly damaging |
Het |
| Ptprc |
G |
T |
1: 138,054,058 (GRCm39) |
T27K |
possibly damaging |
Het |
| Rnf213 |
A |
G |
11: 119,364,998 (GRCm39) |
T4553A |
probably benign |
Het |
| Scgb2b7 |
A |
T |
7: 31,404,506 (GRCm39) |
C65S |
probably damaging |
Het |
| Skint3 |
T |
C |
4: 112,111,264 (GRCm39) |
F130L |
probably damaging |
Het |
| Slc8a1 |
A |
G |
17: 81,749,624 (GRCm39) |
|
probably benign |
Het |
| Stau1 |
T |
C |
2: 166,792,240 (GRCm39) |
N433D |
probably damaging |
Het |
| Tapbpl |
G |
A |
6: 125,205,142 (GRCm39) |
A268V |
possibly damaging |
Het |
| Tmem131l |
T |
C |
3: 83,848,209 (GRCm39) |
I314V |
probably benign |
Het |
| Tmem44 |
A |
G |
16: 30,362,566 (GRCm39) |
W151R |
probably damaging |
Het |
| Tnnc1 |
T |
C |
14: 30,931,798 (GRCm39) |
|
probably benign |
Het |
| Traf5 |
T |
G |
1: 191,729,461 (GRCm39) |
N530T |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,576,907 (GRCm39) |
I24662T |
probably damaging |
Het |
| Vmn1r49 |
A |
T |
6: 90,049,341 (GRCm39) |
H220Q |
possibly damaging |
Het |
| Vmn2r106 |
A |
T |
17: 20,498,785 (GRCm39) |
C375* |
probably null |
Het |
| Vps26b |
T |
C |
9: 26,940,796 (GRCm39) |
Y41C |
probably damaging |
Het |
| Wdr64 |
T |
C |
1: 175,594,562 (GRCm39) |
|
probably benign |
Het |
| Xylt1 |
C |
T |
7: 117,236,978 (GRCm39) |
Q576* |
probably null |
Het |
| Zfp106 |
T |
C |
2: 120,354,505 (GRCm39) |
D1422G |
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 |
|
IGL03349:Prss23
|
APN |
7 |
89,159,065 (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