Incidental Mutation 'R7362:Prss23'
ID |
571417 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Prss23
|
Ensembl Gene |
ENSMUSG00000039405 |
Gene Name |
serine protease 23 |
Synonyms |
2310046G15Rik |
MMRRC Submission |
045375-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.062)
|
Stock # |
R7362 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
89156991-89176395 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 89158972 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Threonine
at position 366
(A366T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000045191
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041761]
[ENSMUST00000207538]
[ENSMUST00000207636]
[ENSMUST00000207932]
[ENSMUST00000208402]
[ENSMUST00000208888]
[ENSMUST00000208903]
|
AlphaFold |
Q9D6X6 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000041761
AA Change: A366T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000045191 Gene: ENSMUSG00000039405 AA Change: A366T
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 |
probably benign
Transcript: ENSMUST00000207538
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000207636
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000207932
AA Change: A366T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000208402
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000208888
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000208903
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
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: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adprhl1 |
C |
T |
8: 13,295,534 (GRCm39) |
R193K |
probably damaging |
Het |
Aoc1 |
G |
T |
6: 48,882,345 (GRCm39) |
V74L |
probably benign |
Het |
Bfsp1 |
G |
C |
2: 143,668,795 (GRCm39) |
P601A |
probably benign |
Het |
Bicd1 |
A |
C |
6: 149,385,591 (GRCm39) |
K108T |
probably benign |
Het |
Btbd18 |
C |
T |
2: 84,491,887 (GRCm39) |
Q23* |
probably null |
Het |
Ccser1 |
A |
G |
6: 61,787,864 (GRCm39) |
I227M |
unknown |
Het |
Cd151 |
G |
A |
7: 141,049,502 (GRCm39) |
V70I |
probably benign |
Het |
Cdh10 |
A |
G |
15: 18,899,780 (GRCm39) |
T36A |
probably benign |
Het |
Crb2 |
A |
G |
2: 37,680,211 (GRCm39) |
T380A |
probably benign |
Het |
Csmd3 |
A |
C |
15: 47,619,388 (GRCm39) |
S1829A |
possibly damaging |
Het |
Dgat2 |
A |
T |
7: 98,803,843 (GRCm39) |
H359Q |
probably damaging |
Het |
Dhdds |
T |
C |
4: 133,698,441 (GRCm39) |
T298A |
probably benign |
Het |
Egfem1 |
A |
G |
3: 29,206,069 (GRCm39) |
Q102R |
probably benign |
Het |
Eps15 |
T |
A |
4: 109,223,439 (GRCm39) |
|
probably null |
Het |
Ern1 |
T |
A |
11: 106,327,949 (GRCm39) |
D61V |
probably damaging |
Het |
Fcamr |
G |
A |
1: 130,741,760 (GRCm39) |
R511Q |
possibly damaging |
Het |
Grhpr |
T |
C |
4: 44,987,255 (GRCm39) |
V213A |
probably benign |
Het |
Gsx2 |
A |
G |
5: 75,236,765 (GRCm39) |
D115G |
possibly damaging |
Het |
Hoxd3 |
A |
G |
2: 74,574,563 (GRCm39) |
I70V |
possibly damaging |
Het |
Inpp5a |
A |
G |
7: 139,158,296 (GRCm39) |
I408V |
probably benign |
Het |
Kansl3 |
A |
T |
1: 36,383,208 (GRCm39) |
D759E |
possibly damaging |
Het |
Lrrc37a |
T |
G |
11: 103,348,335 (GRCm39) |
T2787P |
unknown |
Het |
Mier3 |
G |
A |
13: 111,841,783 (GRCm39) |
G115S |
possibly damaging |
Het |
Mkln1 |
T |
C |
6: 31,445,103 (GRCm39) |
I333T |
probably benign |
Het |
Myt1 |
T |
A |
2: 181,439,033 (GRCm39) |
V227D |
probably benign |
Het |
Or1a1 |
T |
C |
11: 74,086,412 (GRCm39) |
F28L |
probably benign |
Het |
Or52s1 |
T |
A |
7: 102,861,861 (GRCm39) |
Y265N |
probably damaging |
Het |
Or7e171-ps1 |
C |
T |
9: 19,853,527 (GRCm39) |
D70N |
probably damaging |
Het |
Pcf11 |
A |
G |
7: 92,302,453 (GRCm39) |
L1219P |
possibly damaging |
Het |
Pde6g |
T |
C |
11: 120,338,950 (GRCm39) |
E80G |
probably damaging |
Het |
Pkd1l3 |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
8: 110,350,827 (GRCm39) |
|
probably benign |
Het |
Ppp3cb |
T |
A |
14: 20,573,719 (GRCm39) |
Q304L |
probably benign |
Het |
Prr19 |
T |
C |
7: 25,003,343 (GRCm39) |
L319P |
probably damaging |
Het |
Rock2 |
T |
C |
12: 17,008,422 (GRCm39) |
L560P |
probably damaging |
Het |
Simc1 |
A |
T |
13: 54,687,517 (GRCm39) |
R95S |
probably damaging |
Het |
Slc10a6 |
A |
T |
5: 103,776,992 (GRCm39) |
V36E |
probably damaging |
Het |
Slco1c1 |
A |
T |
6: 141,515,189 (GRCm39) |
T695S |
probably benign |
Het |
Spata31h1 |
T |
A |
10: 82,128,831 (GRCm39) |
Q1393L |
possibly damaging |
Het |
Ssh2 |
T |
C |
11: 77,340,476 (GRCm39) |
F543L |
probably benign |
Het |
Tecpr2 |
T |
A |
12: 110,907,910 (GRCm39) |
V999D |
possibly damaging |
Het |
Tnfsf10 |
A |
T |
3: 27,389,497 (GRCm39) |
Y186F |
probably damaging |
Het |
Tnk2 |
A |
T |
16: 32,494,338 (GRCm39) |
|
probably null |
Het |
Tram1 |
T |
C |
1: 13,659,832 (GRCm39) |
M39V |
probably benign |
Het |
Uck2 |
C |
T |
1: 167,065,211 (GRCm39) |
V36I |
possibly damaging |
Het |
Ugcg |
T |
A |
4: 59,217,109 (GRCm39) |
M211K |
probably damaging |
Het |
Vash2 |
A |
T |
1: 190,692,496 (GRCm39) |
S226R |
probably damaging |
Het |
Vmn1r172 |
T |
A |
7: 23,359,841 (GRCm39) |
M242K |
probably damaging |
Het |
Vmn2r82 |
A |
T |
10: 79,232,451 (GRCm39) |
M817L |
probably benign |
Het |
Vwa5b1 |
T |
C |
4: 138,321,623 (GRCm39) |
N390S |
probably damaging |
Het |
Wdr73 |
T |
A |
7: 80,550,451 (GRCm39) |
D17V |
probably damaging |
Het |
Wdr91 |
A |
T |
6: 34,866,050 (GRCm39) |
S501T |
possibly damaging |
Het |
Zfp454 |
A |
G |
11: 50,777,194 (GRCm39) |
|
probably null |
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 |
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 |
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'- CTGCTTAAATGCTATAACGCACAC -3'
(R):5'- TTCTCTACCAGCAGTGTGACG -3'
Sequencing Primer
(F):5'- TTAAATGCTATAACGCACACAACAG -3'
(R):5'- AGCAGTGTGACGCCCAG -3'
|
Posted On |
2019-09-13 |