Incidental Mutation 'R5697:Prss23'
| ID |
450740 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R5697 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
89156991-89176395 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 89159190 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 293
(F293S)
|
| 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: F293S
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000045191
Gene: ENSMUSG00000039405
AA Change: F293S
| 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: F293S
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208402
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208814
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208888
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208903
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209118
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209064
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.3%
|
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actr8 |
T |
C |
14: 29,713,630 (GRCm39) |
F550S |
possibly damaging |
Het |
| Adam34l |
A |
T |
8: 44,079,616 (GRCm39) |
W203R |
probably damaging |
Het |
| Adamts15 |
G |
A |
9: 30,823,090 (GRCm39) |
T326I |
probably damaging |
Het |
| Akap9 |
T |
C |
5: 4,010,170 (GRCm39) |
L309P |
possibly damaging |
Het |
| Arfgef1 |
T |
C |
1: 10,231,063 (GRCm39) |
M1149V |
probably benign |
Het |
| Atp6v0a4 |
C |
T |
6: 38,027,442 (GRCm39) |
|
probably null |
Het |
| Capn9 |
C |
T |
8: 125,315,810 (GRCm39) |
H39Y |
unknown |
Het |
| Ccn2 |
A |
G |
10: 24,473,354 (GRCm39) |
T298A |
probably benign |
Het |
| Celsr2 |
G |
A |
3: 108,311,237 (GRCm39) |
Q1425* |
probably null |
Het |
| Chd6 |
A |
G |
2: 160,859,971 (GRCm39) |
L610P |
probably damaging |
Het |
| Clasp2 |
A |
T |
9: 113,689,190 (GRCm39) |
T424S |
probably benign |
Het |
| Clec5a |
T |
C |
6: 40,559,204 (GRCm39) |
D35G |
probably benign |
Het |
| Dnhd1 |
T |
G |
7: 105,323,395 (GRCm39) |
V599G |
probably damaging |
Het |
| Enpep |
T |
C |
3: 129,102,772 (GRCm39) |
T395A |
probably benign |
Het |
| Evc2 |
G |
T |
5: 37,527,952 (GRCm39) |
L320F |
probably damaging |
Het |
| H2bc22 |
C |
T |
13: 21,971,961 (GRCm39) |
|
probably null |
Het |
| Hivep3 |
C |
T |
4: 119,954,152 (GRCm39) |
H823Y |
possibly damaging |
Het |
| Ighv1-59 |
C |
T |
12: 115,298,968 (GRCm39) |
E29K |
possibly damaging |
Het |
| Itsn1 |
A |
G |
16: 91,598,477 (GRCm39) |
I137V |
possibly damaging |
Het |
| Kntc1 |
A |
G |
5: 123,903,070 (GRCm39) |
T316A |
probably benign |
Het |
| Map4k5 |
T |
C |
12: 69,877,210 (GRCm39) |
T312A |
probably benign |
Het |
| Megf6 |
G |
T |
4: 154,342,686 (GRCm39) |
A642S |
probably null |
Het |
| Mrgprb3 |
G |
T |
7: 48,292,673 (GRCm39) |
L293M |
probably damaging |
Het |
| Nes |
A |
G |
3: 87,885,155 (GRCm39) |
E1138G |
probably damaging |
Het |
| Niban1 |
T |
C |
1: 151,576,012 (GRCm39) |
F379L |
probably damaging |
Het |
| Pias2 |
A |
G |
18: 77,220,884 (GRCm39) |
K373R |
probably damaging |
Het |
| Pzp |
A |
G |
6: 128,502,152 (GRCm39) |
Y66H |
probably benign |
Het |
| Rnf213 |
A |
G |
11: 119,374,720 (GRCm39) |
R5061G |
possibly damaging |
Het |
| Sergef |
A |
G |
7: 46,288,683 (GRCm39) |
|
probably benign |
Het |
| Slc7a1 |
A |
G |
5: 148,270,792 (GRCm39) |
V558A |
probably benign |
Het |
| Smc2 |
A |
G |
4: 52,459,045 (GRCm39) |
E480G |
probably benign |
Het |
| Smyd3 |
T |
G |
1: 179,239,247 (GRCm39) |
K111T |
probably damaging |
Het |
| Tchh |
A |
T |
3: 93,352,350 (GRCm39) |
R597* |
probably null |
Het |
| Ttc6 |
G |
T |
12: 57,724,000 (GRCm39) |
V1043L |
probably benign |
Het |
| Vmn1r10 |
T |
G |
6: 57,090,474 (GRCm39) |
L22R |
probably damaging |
Het |
| Vmn2r56 |
T |
C |
7: 12,449,917 (GRCm39) |
D107G |
probably damaging |
Het |
| Zfp1005 |
C |
T |
2: 150,111,394 (GRCm39) |
H695Y |
possibly damaging |
Het |
| Zfp365 |
A |
G |
10: 67,745,470 (GRCm39) |
Y103H |
probably benign |
Het |
| Zfp39 |
G |
T |
11: 58,780,661 (GRCm39) |
H700Q |
probably benign |
Het |
| Zfp982 |
A |
T |
4: 147,597,046 (GRCm39) |
E134D |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGAGAGCCATTCATGTCCAC -3'
(R):5'- AAGTTTCAGTGGATCCGCGTG -3'
Sequencing Primer
(F):5'- CCCACTGGTGCCCTGAAAAG -3'
(R):5'- GTGAAACGCACCCATGTG -3'
|
| Posted On |
2017-01-03 |
Incidental Mutation