Incidental Mutation 'R1026:Prss23'
ID |
94969 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Prss23
|
Ensembl Gene |
ENSMUSG00000039405 |
Gene Name |
serine protease 23 |
Synonyms |
2310046G15Rik |
MMRRC Submission |
039128-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.061)
|
Stock # |
R1026 (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 89159166 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Phenylalanine
at position 301
(Y301F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000147183
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041761]
[ENSMUST00000207538]
[ENSMUST00000207636]
[ENSMUST00000207932]
[ENSMUST00000208888]
[ENSMUST00000208402]
[ENSMUST00000208903]
|
AlphaFold |
Q9D6X6 |
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000032858
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000041761
AA Change: Y301F
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000045191 Gene: ENSMUSG00000039405 AA Change: Y301F
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: Y301F
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209118
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000208888
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209064
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000208402
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000208903
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208814
|
Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.7%
- 10x: 94.5%
- 20x: 87.3%
|
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: 15 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Alyref |
C |
G |
11: 120,486,758 (GRCm39) |
V168L |
probably damaging |
Het |
Cdc42bpg |
T |
C |
19: 6,367,217 (GRCm39) |
C919R |
probably damaging |
Het |
Cgnl1 |
A |
G |
9: 71,624,713 (GRCm39) |
S620P |
possibly damaging |
Het |
Fbxw10 |
A |
G |
11: 62,765,997 (GRCm39) |
T756A |
probably benign |
Het |
Fsip2 |
T |
C |
2: 82,818,805 (GRCm39) |
I4846T |
possibly damaging |
Het |
Hebp2 |
G |
T |
10: 18,420,163 (GRCm39) |
T90K |
possibly damaging |
Het |
Map4k5 |
T |
C |
12: 69,921,062 (GRCm39) |
K52R |
possibly damaging |
Het |
Neb |
T |
A |
2: 52,154,122 (GRCm39) |
M2330L |
possibly damaging |
Het |
Or14a258 |
T |
A |
7: 86,035,467 (GRCm39) |
M134L |
probably damaging |
Het |
Or8k21 |
T |
C |
2: 86,145,558 (GRCm39) |
Q24R |
possibly damaging |
Het |
Plekhf1 |
C |
A |
7: 37,921,065 (GRCm39) |
A168S |
probably benign |
Het |
Ppp1r12a |
A |
G |
10: 108,087,720 (GRCm39) |
T58A |
probably benign |
Het |
R3hdm1 |
A |
G |
1: 128,124,742 (GRCm39) |
Y343C |
probably damaging |
Het |
Zcchc17 |
C |
T |
4: 130,223,403 (GRCm39) |
V128I |
possibly damaging |
Het |
Zfp960 |
T |
A |
17: 17,308,518 (GRCm39) |
C411S |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGTGGAGAGCCATTCATGTCCACC -3'
(R):5'- TCAGCCATGCCAGACAAGATGAAG -3'
Sequencing Primer
(F):5'- ATTCATGTCCACCCACTGG -3'
(R):5'- CATCGGCATGGATTATGACTACG -3'
|
Posted On |
2014-01-05 |