Incidental Mutation 'IGL03378:Prss23'
| ID |
420579 |
| 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 # |
IGL03378
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
89156991-89176395 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 89159352 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 239
(D239G)
|
| 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 damaging
Transcript: ENSMUST00000041761
AA Change: D239G
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000045191
Gene: ENSMUSG00000039405
AA Change: D239G
| 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 damaging
Transcript: ENSMUST00000207932
AA Change: D239G
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208402
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208888
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209064
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208903
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208814
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209118
|
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9430069I07Rik |
T |
A |
15: 34,355,778 (GRCm39) |
I261N |
probably benign |
Het |
| Bace1 |
T |
A |
9: 45,770,199 (GRCm39) |
|
probably null |
Het |
| Caprin2 |
G |
T |
6: 148,779,352 (GRCm39) |
Q152K |
probably benign |
Het |
| Cdh16 |
C |
T |
8: 105,345,917 (GRCm39) |
D285N |
probably benign |
Het |
| Cnnm2 |
G |
A |
19: 46,866,473 (GRCm39) |
A874T |
possibly damaging |
Het |
| Dhx38 |
A |
T |
8: 110,285,722 (GRCm39) |
|
probably null |
Het |
| Dnhd1 |
A |
C |
7: 105,362,940 (GRCm39) |
E3834A |
possibly damaging |
Het |
| Erc2 |
A |
C |
14: 27,733,680 (GRCm39) |
S585R |
probably damaging |
Het |
| Gli3 |
A |
G |
13: 15,819,005 (GRCm39) |
E269G |
probably damaging |
Het |
| Gpr161 |
T |
C |
1: 165,138,077 (GRCm39) |
L204P |
probably damaging |
Het |
| Hp |
A |
G |
8: 110,302,339 (GRCm39) |
V203A |
probably damaging |
Het |
| Krtap6-5 |
A |
T |
16: 88,844,677 (GRCm39) |
C19S |
unknown |
Het |
| Lce1i |
A |
T |
3: 92,685,033 (GRCm39) |
S48T |
unknown |
Het |
| Lrp2 |
A |
T |
2: 69,261,496 (GRCm39) |
S4482T |
probably damaging |
Het |
| Mpdz |
A |
T |
4: 81,337,285 (GRCm39) |
|
probably benign |
Het |
| Or1q1 |
T |
C |
2: 36,886,915 (GRCm39) |
F31S |
probably damaging |
Het |
| Or4c100 |
T |
A |
2: 88,356,498 (GRCm39) |
Y190* |
probably null |
Het |
| Or8k18 |
T |
A |
2: 86,085,363 (GRCm39) |
I225L |
possibly damaging |
Het |
| Papola |
G |
T |
12: 105,775,692 (GRCm39) |
|
probably null |
Het |
| Setd2 |
A |
G |
9: 110,382,220 (GRCm39) |
T83A |
unknown |
Het |
| Sh3pxd2b |
T |
G |
11: 32,331,443 (GRCm39) |
L56V |
probably damaging |
Het |
| Ski |
A |
G |
4: 155,245,329 (GRCm39) |
S300P |
probably benign |
Het |
| Srebf2 |
T |
C |
15: 82,053,989 (GRCm39) |
S17P |
probably damaging |
Het |
| Svs5 |
C |
A |
2: 164,175,260 (GRCm39) |
H37Q |
probably benign |
Het |
| Tbx21 |
A |
G |
11: 97,005,567 (GRCm39) |
S133P |
probably benign |
Het |
| Tgfbr3 |
G |
T |
5: 107,257,568 (GRCm39) |
S830R |
probably damaging |
Het |
| Thsd1 |
A |
T |
8: 22,733,794 (GRCm39) |
K280N |
probably benign |
Het |
| Tnfrsf13c |
T |
A |
15: 82,108,513 (GRCm39) |
M1L |
probably benign |
Het |
| Ttll7 |
T |
C |
3: 146,615,408 (GRCm39) |
F291L |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,599,907 (GRCm39) |
V10762A |
probably damaging |
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 |
|
IGL03349:Prss23
|
APN |
7 |
89,159,065 (GRCm39) |
missense |
probably benign |
0.09 |
|
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