Incidental Mutation 'R4862:Prss3b'
ID |
374589 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Prss3b
|
Ensembl Gene |
ENSMUSG00000029882 |
Gene Name |
serine protease 3B |
Synonyms |
2210010C04Rik |
MMRRC Submission |
043260-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.074)
|
Stock # |
R4862 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
41007202-41012443 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 41009345 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Alanine
at position 163
(D163A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000031931
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031931]
|
AlphaFold |
Q9CPN9 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000031931
AA Change: D163A
PolyPhen 2
Score 0.736 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000031931 Gene: ENSMUSG00000029882 AA Change: D163A
Domain | Start | End | E-Value | Type |
Tryp_SPc
|
24 |
240 |
3.52e-102 |
SMART |
|
Meta Mutation Damage Score |
0.1795 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
Validation Efficiency |
95% (40/42) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acox3 |
A |
G |
5: 35,747,083 (GRCm39) |
T167A |
probably benign |
Het |
Aox1 |
T |
G |
1: 58,134,316 (GRCm39) |
D1096E |
probably damaging |
Het |
Arid4a |
A |
T |
12: 71,122,721 (GRCm39) |
D1034V |
probably damaging |
Het |
Ccdc168 |
G |
A |
1: 44,097,178 (GRCm39) |
P1307S |
possibly damaging |
Het |
Chaf1b |
T |
A |
16: 93,684,022 (GRCm39) |
L91Q |
probably damaging |
Het |
Copb2 |
G |
T |
9: 98,463,320 (GRCm39) |
D512Y |
probably damaging |
Het |
Daam1 |
A |
G |
12: 71,988,981 (GRCm39) |
E127G |
unknown |
Het |
Dhx16 |
A |
G |
17: 36,194,154 (GRCm39) |
I422V |
probably benign |
Het |
Dnah6 |
C |
T |
6: 73,098,771 (GRCm39) |
V2043I |
probably damaging |
Het |
Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Het |
Dync2h1 |
A |
G |
9: 7,147,717 (GRCm39) |
V971A |
probably benign |
Het |
Elapor1 |
A |
G |
3: 108,375,149 (GRCm39) |
S573P |
probably benign |
Het |
Elmo1 |
A |
G |
13: 20,633,682 (GRCm39) |
H448R |
probably benign |
Het |
Fndc1 |
A |
T |
17: 7,988,567 (GRCm39) |
V1165D |
unknown |
Het |
Hapln1 |
G |
A |
13: 89,749,571 (GRCm39) |
G39S |
possibly damaging |
Het |
Igkv6-13 |
C |
A |
6: 70,434,765 (GRCm39) |
V27L |
probably benign |
Het |
Krt28 |
A |
T |
11: 99,255,936 (GRCm39) |
I441N |
possibly damaging |
Het |
Lgr5 |
A |
T |
10: 115,298,669 (GRCm39) |
D286E |
probably damaging |
Het |
Mapkap1 |
A |
G |
2: 34,513,442 (GRCm39) |
Y448C |
probably damaging |
Het |
Or2f1 |
T |
C |
6: 42,721,489 (GRCm39) |
Y173H |
possibly damaging |
Het |
Or5t9 |
T |
A |
2: 86,659,876 (GRCm39) |
V260E |
probably damaging |
Het |
Ppt1 |
A |
C |
4: 122,738,242 (GRCm39) |
N89T |
probably damaging |
Het |
Ptgs1 |
G |
T |
2: 36,127,267 (GRCm39) |
R51L |
probably damaging |
Het |
Slc47a2 |
A |
G |
11: 61,204,520 (GRCm39) |
F277S |
possibly damaging |
Het |
Smcr8 |
A |
G |
11: 60,668,897 (GRCm39) |
E15G |
probably benign |
Het |
Tbce |
A |
G |
13: 14,173,004 (GRCm39) |
S476P |
possibly damaging |
Het |
Tmem131l |
A |
T |
3: 83,805,517 (GRCm39) |
|
probably benign |
Het |
Unc5c |
T |
C |
3: 141,495,534 (GRCm39) |
Y468H |
probably damaging |
Het |
Ush1c |
A |
T |
7: 45,878,664 (GRCm39) |
L117H |
probably damaging |
Het |
Wdfy4 |
A |
G |
14: 32,822,860 (GRCm39) |
|
probably null |
Het |
Zfa-ps |
G |
T |
10: 52,419,192 (GRCm39) |
|
noncoding transcript |
Het |
Zfat |
C |
A |
15: 68,051,959 (GRCm39) |
A605S |
probably benign |
Het |
Zfp853 |
T |
A |
5: 143,275,416 (GRCm39) |
Q68L |
unknown |
Het |
Zfyve16 |
G |
A |
13: 92,644,764 (GRCm39) |
T1146I |
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 |
R2446:Prss3b
|
UTSW |
6 |
41,008,582 (GRCm39) |
missense |
probably benign |
0.15 |
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'- GCTTTTGAGGTACACGGTCAG -3'
(R):5'- TTGTTGAAAGCGGTGGACAC -3'
Sequencing Primer
(F):5'- AGAGATGGTTAATGTTCTCTCTCC -3'
(R):5'- GCTGGGAAAGTTGTTTCC -3'
|
Posted On |
2016-03-17 |