Incidental Mutation 'R2446:Prss3b'
ID |
250567 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Prss3b
|
Ensembl Gene |
ENSMUSG00000029882 |
Gene Name |
serine protease 3B |
Synonyms |
2210010C04Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.074)
|
Stock # |
R2446 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
41007202-41012443 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 41008582 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 244
(I244T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000031931
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031931]
|
AlphaFold |
Q9CPN9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000031931
AA Change: I244T
PolyPhen 2
Score 0.150 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000031931 Gene: ENSMUSG00000029882 AA Change: I244T
Domain | Start | End | E-Value | Type |
Tryp_SPc
|
24 |
240 |
3.52e-102 |
SMART |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.2%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 20 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
A |
G |
11: 9,225,101 (GRCm39) |
R527G |
probably benign |
Het |
Cap1 |
T |
A |
4: 122,758,401 (GRCm39) |
I260F |
probably benign |
Het |
Chst9 |
T |
C |
18: 15,585,895 (GRCm39) |
K223E |
possibly damaging |
Het |
Dpy19l4 |
A |
T |
4: 11,304,143 (GRCm39) |
|
probably null |
Het |
Ercc2 |
T |
C |
7: 19,120,869 (GRCm39) |
I223T |
probably damaging |
Het |
Hydin |
T |
C |
8: 111,314,347 (GRCm39) |
L4277P |
possibly damaging |
Het |
Ibtk |
T |
C |
9: 85,585,126 (GRCm39) |
N1173D |
probably benign |
Het |
Klra17 |
T |
A |
6: 129,808,477 (GRCm39) |
H252L |
probably benign |
Het |
Lmf1 |
G |
A |
17: 25,873,445 (GRCm39) |
V317M |
probably damaging |
Het |
Ltbp3 |
G |
A |
19: 5,804,050 (GRCm39) |
R854Q |
probably benign |
Het |
Npc1 |
A |
G |
18: 12,347,396 (GRCm39) |
V208A |
probably benign |
Het |
Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
Or5b107 |
T |
G |
19: 13,142,811 (GRCm39) |
C144W |
probably benign |
Het |
P2rx7 |
A |
T |
5: 122,818,879 (GRCm39) |
M434L |
probably benign |
Het |
Pcdhb9 |
G |
A |
18: 37,536,340 (GRCm39) |
G778E |
probably damaging |
Het |
Scn7a |
A |
G |
2: 66,523,002 (GRCm39) |
Y901H |
probably damaging |
Het |
Tlcd1 |
G |
A |
11: 78,069,623 (GRCm39) |
|
probably benign |
Het |
Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
Vmn2r3 |
A |
G |
3: 64,182,733 (GRCm39) |
I322T |
probably damaging |
Het |
Zbtb38 |
C |
T |
9: 96,569,699 (GRCm39) |
V462M |
probably damaging |
Het |
|
Other mutations in Prss3b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01120:Prss3b
|
APN |
6 |
41,008,607 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01625:Prss3b
|
APN |
6 |
41,009,882 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02159:Prss3b
|
APN |
6 |
41,009,891 (GRCm39) |
missense |
probably benign |
0.34 |
IGL03161:Prss3b
|
APN |
6 |
41,011,240 (GRCm39) |
missense |
probably damaging |
0.96 |
R0419:Prss3b
|
UTSW |
6 |
41,011,281 (GRCm39) |
missense |
probably benign |
0.05 |
R1715:Prss3b
|
UTSW |
6 |
41,009,870 (GRCm39) |
splice site |
probably null |
|
R2057:Prss3b
|
UTSW |
6 |
41,009,315 (GRCm39) |
missense |
probably benign |
0.06 |
R2059:Prss3b
|
UTSW |
6 |
41,009,315 (GRCm39) |
missense |
probably benign |
0.06 |
R2136:Prss3b
|
UTSW |
6 |
41,012,396 (GRCm39) |
missense |
probably benign |
0.28 |
R4862:Prss3b
|
UTSW |
6 |
41,009,345 (GRCm39) |
missense |
possibly damaging |
0.74 |
R5068:Prss3b
|
UTSW |
6 |
41,009,370 (GRCm39) |
missense |
probably benign |
0.35 |
R5369:Prss3b
|
UTSW |
6 |
41,009,940 (GRCm39) |
missense |
probably benign |
0.00 |
R6392:Prss3b
|
UTSW |
6 |
41,009,306 (GRCm39) |
missense |
probably damaging |
1.00 |
R7010:Prss3b
|
UTSW |
6 |
41,009,247 (GRCm39) |
missense |
probably benign |
0.42 |
R7567:Prss3b
|
UTSW |
6 |
41,010,127 (GRCm39) |
missense |
probably benign |
0.04 |
R7727:Prss3b
|
UTSW |
6 |
41,010,127 (GRCm39) |
missense |
probably benign |
0.04 |
R7962:Prss3b
|
UTSW |
6 |
41,012,387 (GRCm39) |
missense |
probably benign |
0.01 |
R8373:Prss3b
|
UTSW |
6 |
41,008,622 (GRCm39) |
missense |
possibly damaging |
0.53 |
R8529:Prss3b
|
UTSW |
6 |
41,009,369 (GRCm39) |
missense |
probably benign |
0.00 |
R8883:Prss3b
|
UTSW |
6 |
41,009,305 (GRCm39) |
nonsense |
probably null |
|
R8916:Prss3b
|
UTSW |
6 |
41,010,103 (GRCm39) |
missense |
probably damaging |
1.00 |
R9066:Prss3b
|
UTSW |
6 |
41,008,640 (GRCm39) |
missense |
probably benign |
0.41 |
R9095:Prss3b
|
UTSW |
6 |
41,010,038 (GRCm39) |
missense |
possibly damaging |
0.76 |
R9180:Prss3b
|
UTSW |
6 |
41,008,681 (GRCm39) |
missense |
probably damaging |
1.00 |
R9389:Prss3b
|
UTSW |
6 |
41,010,079 (GRCm39) |
missense |
probably benign |
0.02 |
|
Predicted Primers |
PCR Primer
(F):5'- TCAACTAAGGTGTGCCAGC -3'
(R):5'- AGTGGCCCGAGATAATCAAG -3'
Sequencing Primer
(F):5'- AGGTGTGCCAGCTATATTAATAAAC -3'
(R):5'- GCCCGAGATAATCAAGTAACAACTTG -3'
|
Posted On |
2014-11-12 |