Incidental Mutation 'R5251:Prss23'
ID |
399040 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Prss23
|
Ensembl Gene |
ENSMUSG00000039405 |
Gene Name |
serine protease 23 |
Synonyms |
2310046G15Rik |
MMRRC Submission |
042822-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.061)
|
Stock # |
R5251 (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 C
at 89159530 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Glutamic Acid
at position 180
(K180E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000147183
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041761]
[ENSMUST00000207538]
[ENSMUST00000207636]
[ENSMUST00000207932]
[ENSMUST00000208402]
[ENSMUST00000208903]
[ENSMUST00000208888]
|
AlphaFold |
Q9D6X6 |
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000032858
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000041761
AA Change: K180E
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000045191 Gene: ENSMUSG00000039405 AA Change: K180E
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: K180E
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000208402
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209118
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209064
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000208903
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000208888
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208814
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 92.9%
|
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: 28 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Afap1 |
A |
T |
5: 36,108,236 (GRCm39) |
E194V |
probably damaging |
Het |
Ankrd16 |
T |
A |
2: 11,783,552 (GRCm39) |
D51E |
probably damaging |
Het |
Arhgef5 |
A |
G |
6: 43,249,815 (GRCm39) |
T189A |
possibly damaging |
Het |
Camk4 |
A |
G |
18: 33,317,932 (GRCm39) |
D363G |
probably benign |
Het |
Camta1 |
A |
G |
4: 151,248,341 (GRCm39) |
I199T |
probably damaging |
Het |
Ccdc141 |
C |
T |
2: 76,858,118 (GRCm39) |
C1021Y |
probably damaging |
Het |
Cdc34 |
C |
T |
10: 79,521,090 (GRCm39) |
S129L |
probably damaging |
Het |
Cenph |
T |
A |
13: 100,898,348 (GRCm39) |
N185I |
possibly damaging |
Het |
Colq |
A |
G |
14: 31,261,776 (GRCm39) |
|
probably null |
Het |
Dph2 |
A |
T |
4: 117,747,543 (GRCm39) |
D280E |
probably damaging |
Het |
Exosc5 |
A |
G |
7: 25,367,180 (GRCm39) |
Y224C |
probably damaging |
Het |
Fgfr3 |
C |
T |
5: 33,892,900 (GRCm39) |
|
probably benign |
Het |
Hs3st6 |
T |
A |
17: 24,976,959 (GRCm39) |
D146E |
probably benign |
Het |
Igkv13-84 |
A |
T |
6: 68,916,772 (GRCm39) |
Q23L |
probably benign |
Het |
Macf1 |
A |
G |
4: 123,343,760 (GRCm39) |
V2154A |
probably benign |
Het |
Man1a2 |
T |
C |
3: 100,527,415 (GRCm39) |
E225G |
probably damaging |
Het |
Mertk |
T |
C |
2: 128,571,375 (GRCm39) |
S110P |
probably damaging |
Het |
Nav3 |
A |
G |
10: 109,689,114 (GRCm39) |
F388L |
probably damaging |
Het |
Nme8 |
T |
C |
13: 19,844,795 (GRCm39) |
N98S |
probably benign |
Het |
Nup205 |
A |
G |
6: 35,173,417 (GRCm39) |
|
probably null |
Het |
Prl7d1 |
T |
C |
13: 27,893,227 (GRCm39) |
N228S |
probably benign |
Het |
Psap |
G |
A |
10: 60,137,479 (GRCm39) |
D549N |
probably damaging |
Het |
Sec16a |
A |
G |
2: 26,329,357 (GRCm39) |
V886A |
probably benign |
Het |
Sh2d1b2 |
A |
T |
1: 170,077,642 (GRCm39) |
E81D |
probably benign |
Het |
Tbx6 |
A |
T |
7: 126,382,516 (GRCm39) |
N254I |
probably damaging |
Het |
Tchhl1 |
T |
C |
3: 93,377,860 (GRCm39) |
V188A |
possibly damaging |
Het |
Trpc3 |
A |
T |
3: 36,725,103 (GRCm39) |
L291Q |
probably damaging |
Het |
Zbtb38 |
G |
T |
9: 96,569,161 (GRCm39) |
T641N |
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 |
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'- ATCCATGCCGATGTCATTGG -3'
(R):5'- CATCCTCAGCAATGGTGAAGGC -3'
Sequencing Primer
(F):5'- CCGATGTCATTGGCATTGC -3'
(R):5'- AGGCCACAGGGAGATCTC -3'
|
Posted On |
2016-07-06 |