Incidental Mutation 'R7637:Prss23'
| ID |
590012 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prss23
|
| Ensembl Gene |
ENSMUSG00000039405 |
| Gene Name |
serine protease 23 |
| Synonyms |
2310046G15Rik |
| MMRRC Submission |
045695-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.061)
|
| Stock # |
R7637 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
89156991-89176395 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 89159454 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 205
(D205V)
|
| 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 benign
Transcript: ENSMUST00000041761
AA Change: D205V
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000045191
Gene: ENSMUSG00000039405
AA Change: D205V
| 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 benign
Transcript: ENSMUST00000207932
AA Change: D205V
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208402
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208888
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208903
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (51/51) |
| 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 |
|---|
| Abca6 |
T |
A |
11: 110,109,778 (GRCm39) |
Q651L |
probably benign |
Het |
| Adam8 |
C |
T |
7: 139,565,343 (GRCm39) |
V624I |
probably damaging |
Het |
| Cltc |
T |
C |
11: 86,621,158 (GRCm39) |
H287R |
probably damaging |
Het |
| Cmya5 |
T |
C |
13: 93,219,720 (GRCm39) |
K3243R |
possibly damaging |
Het |
| Dock5 |
G |
A |
14: 68,023,789 (GRCm39) |
T1124M |
possibly damaging |
Het |
| Fam8a1 |
A |
T |
13: 46,824,723 (GRCm39) |
M237L |
probably benign |
Het |
| Fars2 |
G |
T |
13: 36,388,758 (GRCm39) |
K82N |
probably benign |
Het |
| Gm40460 |
ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
7: 141,794,450 (GRCm39) |
|
probably benign |
Het |
| Gm57858 |
T |
A |
3: 36,101,025 (GRCm39) |
Q49L |
probably damaging |
Het |
| Gnat3 |
A |
G |
5: 18,208,770 (GRCm39) |
D158G |
|
Het |
| Grhl2 |
A |
C |
15: 37,328,574 (GRCm39) |
N400T |
probably damaging |
Het |
| Grin2c |
A |
T |
11: 115,147,085 (GRCm39) |
|
probably null |
Het |
| Hipk4 |
A |
G |
7: 27,222,973 (GRCm39) |
Y11C |
probably damaging |
Het |
| Hspa9 |
G |
T |
18: 35,071,740 (GRCm39) |
A620E |
not run |
Het |
| Igkv12-89 |
A |
G |
6: 68,812,083 (GRCm39) |
S29P |
probably benign |
Het |
| Itga8 |
A |
T |
2: 12,113,998 (GRCm39) |
D1039E |
probably damaging |
Het |
| Itgae |
A |
T |
11: 73,004,457 (GRCm39) |
D248V |
probably damaging |
Het |
| Kmt2c |
T |
C |
5: 25,520,093 (GRCm39) |
K2006E |
probably damaging |
Het |
| Litafd |
C |
T |
16: 8,501,510 (GRCm39) |
P59L |
unknown |
Het |
| Mdga1 |
C |
T |
17: 30,051,353 (GRCm39) |
G934R |
probably benign |
Het |
| Mov10 |
T |
C |
3: 104,703,201 (GRCm39) |
N896S |
probably benign |
Het |
| Ndufb6 |
A |
T |
4: 40,273,080 (GRCm39) |
|
probably null |
Het |
| Nlk |
T |
C |
11: 78,481,831 (GRCm39) |
|
probably null |
Het |
| Notch2 |
T |
A |
3: 98,053,939 (GRCm39) |
S2201T |
probably damaging |
Het |
| Or5i1 |
A |
T |
2: 87,613,778 (GRCm39) |
D298V |
probably damaging |
Het |
| Pank1 |
A |
C |
19: 34,799,388 (GRCm39) |
|
probably null |
Het |
| Pdlim3 |
T |
C |
8: 46,362,102 (GRCm39) |
F126S |
probably damaging |
Het |
| Pds5a |
C |
A |
5: 65,795,947 (GRCm39) |
G648C |
probably benign |
Het |
| Plekhh3 |
T |
C |
11: 101,055,153 (GRCm39) |
I567V |
unknown |
Het |
| Ppfia2 |
T |
C |
10: 106,701,264 (GRCm39) |
|
probably null |
Het |
| Prl3d1 |
A |
G |
13: 27,284,052 (GRCm39) |
D207G |
probably damaging |
Het |
| Pygl |
C |
T |
12: 70,244,569 (GRCm39) |
|
probably null |
Het |
| Qsox2 |
A |
G |
2: 26,111,032 (GRCm39) |
F111S |
probably damaging |
Het |
| Sart3 |
T |
C |
5: 113,909,413 (GRCm39) |
N95S |
probably benign |
Het |
| Scpep1 |
A |
G |
11: 88,820,046 (GRCm39) |
F414S |
probably damaging |
Het |
| Selenbp1 |
C |
A |
3: 94,844,659 (GRCm39) |
Y105* |
probably null |
Het |
| Sirpa |
A |
G |
2: 129,458,365 (GRCm39) |
D327G |
probably benign |
Het |
| Sowahc |
G |
A |
10: 59,058,005 (GRCm39) |
R47H |
probably damaging |
Het |
| Szt2 |
T |
C |
4: 118,251,025 (GRCm39) |
Y361C |
probably damaging |
Het |
| Taf3 |
A |
G |
2: 9,945,804 (GRCm39) |
V600A |
probably benign |
Het |
| Tie1 |
T |
C |
4: 118,330,175 (GRCm39) |
I1042M |
probably damaging |
Het |
| Tmem132e |
T |
A |
11: 82,325,342 (GRCm39) |
L114Q |
probably damaging |
Het |
| Tmx3 |
A |
G |
18: 90,555,233 (GRCm39) |
T317A |
probably damaging |
Het |
| Tppp3 |
A |
G |
8: 106,194,924 (GRCm39) |
V69A |
probably benign |
Het |
| Tpr |
T |
C |
1: 150,299,267 (GRCm39) |
Y1156H |
probably damaging |
Het |
| Trank1 |
A |
C |
9: 111,194,364 (GRCm39) |
D796A |
possibly damaging |
Het |
| Tsc2 |
G |
A |
17: 24,826,466 (GRCm39) |
P928S |
probably benign |
Het |
| Unc80 |
G |
T |
1: 66,711,843 (GRCm39) |
V2722F |
possibly damaging |
Het |
| Vmn1r199 |
G |
T |
13: 22,566,845 (GRCm39) |
L46F |
probably benign |
Het |
| Vps13a |
A |
T |
19: 16,727,513 (GRCm39) |
H196Q |
probably benign |
Het |
| Wnt10a |
T |
A |
1: 74,832,633 (GRCm39) |
C75* |
probably null |
Het |
| Zfp335 |
A |
G |
2: 164,734,459 (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 |
|
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 |
|
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'- ATAACCAGAGAAGTGGATCCTGC -3'
(R):5'- TTTCTCAACATCGGTGAAGTTG -3'
Sequencing Primer
(F):5'- TGGAGGACTCACACCAATCTTCATG -3'
(R):5'- CTCAACATCGGTGAAGTTGTCTACTG -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation