Incidental Mutation 'R1417:Prss23'
ID |
159853 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Prss23
|
Ensembl Gene |
ENSMUSG00000039405 |
Gene Name |
serine protease 23 |
Synonyms |
2310046G15Rik |
MMRRC Submission |
039473-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.061)
|
Stock # |
R1417 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
89156991-89176395 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 89159392 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Serine
at position 226
(T226S)
|
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: T226S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000045191 Gene: ENSMUSG00000039405 AA Change: T226S
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: T226S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000208402
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209064
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208814
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000208888
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000208903
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209118
|
Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.8%
- 10x: 94.8%
- 20x: 87.8%
|
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: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Atp13a5 |
A |
G |
16: 29,117,053 (GRCm39) |
V565A |
probably benign |
Het |
Atp6v1b1 |
T |
C |
6: 83,730,862 (GRCm39) |
S196P |
probably damaging |
Het |
Car9 |
G |
T |
4: 43,512,439 (GRCm39) |
|
probably null |
Het |
Ces1a |
C |
T |
8: 93,749,044 (GRCm39) |
D456N |
probably benign |
Het |
Clu |
T |
A |
14: 66,212,420 (GRCm39) |
Y124* |
probably null |
Het |
Cnnm1 |
A |
G |
19: 43,458,162 (GRCm39) |
E658G |
probably benign |
Het |
Dnah9 |
T |
C |
11: 65,846,573 (GRCm39) |
E2913G |
probably damaging |
Het |
Edc4 |
G |
A |
8: 106,614,487 (GRCm39) |
|
probably null |
Het |
Enox1 |
C |
T |
14: 77,723,445 (GRCm39) |
|
probably benign |
Het |
G6pc2 |
T |
C |
2: 69,053,312 (GRCm39) |
V122A |
probably damaging |
Het |
Galns |
T |
C |
8: 123,311,652 (GRCm39) |
S453G |
possibly damaging |
Het |
Gm12185 |
A |
C |
11: 48,798,669 (GRCm39) |
V608G |
probably damaging |
Het |
Hbq1a |
A |
G |
11: 32,250,722 (GRCm39) |
D135G |
probably benign |
Het |
Hspg2 |
A |
G |
4: 137,244,947 (GRCm39) |
T891A |
probably benign |
Het |
Ift172 |
T |
C |
5: 31,413,993 (GRCm39) |
Y1445C |
probably damaging |
Het |
Ipo8 |
C |
T |
6: 148,719,550 (GRCm39) |
D132N |
probably benign |
Het |
Klhl11 |
T |
C |
11: 100,363,115 (GRCm39) |
E147G |
probably benign |
Het |
Kmt2d |
A |
T |
15: 98,764,311 (GRCm39) |
V41D |
probably damaging |
Het |
Lrp1b |
T |
C |
2: 40,894,653 (GRCm39) |
I2306V |
probably benign |
Het |
Lrp5 |
A |
G |
19: 3,636,425 (GRCm39) |
V1514A |
probably benign |
Het |
Lrrtm2 |
A |
T |
18: 35,347,011 (GRCm39) |
I97N |
probably damaging |
Het |
Mtmr3 |
C |
A |
11: 4,437,923 (GRCm39) |
V844L |
probably benign |
Het |
Myh8 |
A |
G |
11: 67,197,011 (GRCm39) |
E1832G |
probably damaging |
Het |
Or4n5 |
T |
A |
14: 50,133,020 (GRCm39) |
R80* |
probably null |
Het |
Pcdhb16 |
A |
G |
18: 37,611,180 (GRCm39) |
T47A |
probably benign |
Het |
Pfkp |
T |
C |
13: 6,655,755 (GRCm39) |
K293E |
probably benign |
Het |
Phlpp2 |
G |
T |
8: 110,667,313 (GRCm39) |
E1281* |
probably null |
Het |
Slc8a1 |
T |
G |
17: 81,715,709 (GRCm39) |
M775L |
probably damaging |
Het |
Stx12 |
A |
G |
4: 132,587,853 (GRCm39) |
|
probably null |
Het |
Syt11 |
A |
T |
3: 88,669,289 (GRCm39) |
I201N |
probably damaging |
Het |
Ttc21a |
A |
G |
9: 119,783,327 (GRCm39) |
N543S |
probably damaging |
Het |
Usf3 |
A |
G |
16: 44,037,812 (GRCm39) |
N764S |
probably benign |
Het |
Xylb |
A |
G |
9: 119,193,606 (GRCm39) |
D100G |
probably benign |
Het |
Zfp423 |
T |
C |
8: 88,500,284 (GRCm39) |
|
probably null |
Het |
Zkscan16 |
T |
C |
4: 58,952,377 (GRCm39) |
V225A |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TTGACATCACAGAAGCGGTACACC -3'
(R):5'- GGGCATCTACATCCTCAGCAATGG -3'
Sequencing Primer
(F):5'- GGTACACCAAATTGCCGGG -3'
(R):5'- TCTACATCCTCAGCAATGGTGAAG -3'
|
Posted On |
2014-03-14 |