Incidental Mutation 'PIT4354001:Prss51'
| ID |
554829 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prss51
|
| Ensembl Gene |
ENSMUSG00000052099 |
| Gene Name |
serine protease 51 |
| Synonyms |
1700007N14Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.394)
|
| Stock # |
PIT4354001 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
64323683-64335127 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 64334546 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 91
(V91D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000066111
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063785]
[ENSMUST00000165710]
[ENSMUST00000170709]
[ENSMUST00000224112]
|
| AlphaFold |
A0A286YDY8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000063785
AA Change: V91D
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000066111
Gene: ENSMUSG00000052099
AA Change: V91D
| Domain | Start | End | E-Value | Type |
|---|
|
Tryp_SPc
|
5 |
171 |
3.93e-9 |
SMART |
|
low complexity region
|
181 |
195 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000165710
AA Change: V109D
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000132814
Gene: ENSMUSG00000052099
AA Change: V109D
| Domain | Start | End | E-Value | Type |
|---|
|
Tryp_SPc
|
9 |
189 |
2.09e-13 |
SMART |
|
low complexity region
|
199 |
213 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000170709
AA Change: V91D
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000126778
Gene: ENSMUSG00000052099
AA Change: V91D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Trypsin
|
2 |
94 |
2e-12 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000224112
AA Change: V188D
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| Coding Region Coverage |
- 1x: 92.5%
- 3x: 90.1%
- 10x: 83.2%
- 20x: 69.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arap2 |
A |
T |
5: 62,811,392 (GRCm39) |
Y1140N |
probably damaging |
Het |
| Ccdc83 |
A |
T |
7: 89,873,182 (GRCm39) |
M391K |
probably benign |
Het |
| Cntnap1 |
A |
T |
11: 101,072,123 (GRCm39) |
I459F |
probably damaging |
Het |
| Cr2 |
T |
A |
1: 194,848,617 (GRCm39) |
Y302F |
probably damaging |
Het |
| Ctu2 |
A |
T |
8: 123,205,714 (GRCm39) |
D179V |
probably damaging |
Het |
| Cubn |
G |
A |
2: 13,473,663 (GRCm39) |
Q427* |
probably null |
Het |
| Depdc7 |
A |
G |
2: 104,558,533 (GRCm39) |
S163P |
probably benign |
Het |
| Eif2s3y |
C |
T |
Y: 1,020,126 (GRCm39) |
R385C |
probably benign |
Het |
| Gigyf1 |
A |
G |
5: 137,522,366 (GRCm39) |
K728R |
unknown |
Het |
| Gm1587 |
G |
A |
14: 78,034,473 (GRCm39) |
R32* |
probably null |
Het |
| Hjv |
T |
C |
3: 96,435,761 (GRCm39) |
C340R |
probably damaging |
Het |
| Isy1 |
A |
G |
6: 87,810,653 (GRCm39) |
I53T |
possibly damaging |
Het |
| Myh8 |
A |
T |
11: 67,180,456 (GRCm39) |
N564I |
probably benign |
Het |
| Neb |
A |
T |
2: 52,135,330 (GRCm39) |
I3260N |
probably damaging |
Het |
| Npc1 |
C |
T |
18: 12,344,592 (GRCm39) |
G426E |
probably benign |
Het |
| Nrdc |
G |
A |
4: 108,911,222 (GRCm39) |
|
probably null |
Het |
| Or2v1 |
G |
A |
11: 49,025,132 (GRCm39) |
V38M |
probably damaging |
Het |
| Or4c10b |
T |
A |
2: 89,711,852 (GRCm39) |
S227R |
probably benign |
Het |
| Or4c116 |
C |
A |
2: 88,942,830 (GRCm39) |
E9* |
probably null |
Het |
| Pate8 |
T |
A |
9: 36,492,597 (GRCm39) |
S103C |
possibly damaging |
Het |
| Qpct |
A |
C |
17: 79,389,188 (GRCm39) |
Y280S |
probably benign |
Het |
| Rbpms |
A |
G |
8: 34,296,866 (GRCm39) |
V137A |
possibly damaging |
Het |
| Rgl2 |
T |
A |
17: 34,152,914 (GRCm39) |
M441K |
possibly damaging |
Het |
| Sdhaf3 |
A |
T |
6: 6,956,072 (GRCm39) |
I16F |
possibly damaging |
Het |
| Slc38a3 |
T |
G |
9: 107,534,848 (GRCm39) |
N176H |
probably benign |
Het |
| Sos1 |
T |
C |
17: 80,756,785 (GRCm39) |
S256G |
possibly damaging |
Het |
| Spg11 |
A |
T |
2: 121,918,666 (GRCm39) |
C988S |
probably damaging |
Het |
| Sync |
A |
T |
4: 129,200,447 (GRCm39) |
Q451L |
possibly damaging |
Het |
| Tbc1d31 |
A |
G |
15: 57,831,329 (GRCm39) |
Y929C |
probably benign |
Het |
| Thbs2 |
G |
A |
17: 14,910,230 (GRCm39) |
T123I |
probably damaging |
Het |
| Thsd7a |
A |
C |
6: 12,331,926 (GRCm39) |
|
probably null |
Het |
| Tnfrsf11a |
T |
C |
1: 105,749,242 (GRCm39) |
L220P |
probably damaging |
Het |
| Trbv13-2 |
G |
A |
6: 41,098,752 (GRCm39) |
C109Y |
probably damaging |
Het |
| Ugt3a1 |
G |
A |
15: 9,306,446 (GRCm39) |
W198* |
probably null |
Het |
| Usp14 |
G |
A |
18: 9,996,189 (GRCm39) |
R464W |
probably damaging |
Het |
| Vmn1r2 |
C |
T |
4: 3,172,162 (GRCm39) |
S27L |
probably benign |
Het |
| Vmn1r68 |
T |
A |
7: 10,261,958 (GRCm39) |
N47Y |
probably benign |
Het |
| Zfc3h1 |
T |
A |
10: 115,262,944 (GRCm39) |
Y1719* |
probably null |
Het |
|
| Other mutations in Prss51 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01108:Prss51
|
APN |
14 |
64,333,433 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0453:Prss51
|
UTSW |
14 |
64,334,588 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1335:Prss51
|
UTSW |
14 |
64,333,620 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1479:Prss51
|
UTSW |
14 |
64,333,619 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3753:Prss51
|
UTSW |
14 |
64,333,624 (GRCm39) |
splice site |
probably benign |
|
|
R5384:Prss51
|
UTSW |
14 |
64,334,543 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5385:Prss51
|
UTSW |
14 |
64,334,543 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5386:Prss51
|
UTSW |
14 |
64,334,543 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6522:Prss51
|
UTSW |
14 |
64,334,855 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6722:Prss51
|
UTSW |
14 |
64,332,508 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6908:Prss51
|
UTSW |
14 |
64,333,601 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6919:Prss51
|
UTSW |
14 |
64,334,937 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7220:Prss51
|
UTSW |
14 |
64,333,444 (GRCm39) |
nonsense |
probably null |
|
|
R7510:Prss51
|
UTSW |
14 |
64,333,489 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7711:Prss51
|
UTSW |
14 |
64,334,937 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7753:Prss51
|
UTSW |
14 |
64,333,376 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R9000:Prss51
|
UTSW |
14 |
64,332,420 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9164:Prss51
|
UTSW |
14 |
64,334,958 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9613:Prss51
|
UTSW |
14 |
64,332,461 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
X0024:Prss51
|
UTSW |
14 |
64,334,915 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Prss51
|
UTSW |
14 |
64,332,390 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATACCTAGATGACGCAGAGCAG -3'
(R):5'- TGGCTAGTGGTATGAGCAAG -3'
Sequencing Primer
(F):5'- CAGAGCAGGGTCTTGCACTAG -3'
(R):5'- TAGTGGTATGAGCAAGCCCCC -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation