Incidental Mutation 'R2362:Ctsr'
ID |
247195 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ctsr
|
Ensembl Gene |
ENSMUSG00000055679 |
Gene Name |
cathepsin R |
Synonyms |
|
MMRRC Submission |
040343-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.082)
|
Stock # |
R2362 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
61307029-61312002 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 61310610 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Valine
at position 45
(E45V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000021889
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021889]
|
AlphaFold |
Q9JIA9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000021889
AA Change: E45V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000021889 Gene: ENSMUSG00000055679 AA Change: E45V
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
Inhibitor_I29
|
29 |
88 |
1.68e-21 |
SMART |
Pept_C1
|
115 |
333 |
1.59e-111 |
SMART |
|
Meta Mutation Damage Score |
0.9515 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 94.9%
|
Validation Efficiency |
100% (35/35) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A630073D07Rik |
A |
T |
6: 132,604,442 (GRCm39) |
M1K |
probably null |
Het |
Aadat |
A |
G |
8: 60,985,332 (GRCm39) |
|
probably benign |
Het |
Acsm5 |
T |
C |
7: 119,127,649 (GRCm39) |
|
probably benign |
Het |
Avl9 |
A |
T |
6: 56,713,555 (GRCm39) |
N271I |
probably benign |
Het |
Ccdc30 |
T |
A |
4: 119,181,253 (GRCm39) |
N636I |
probably damaging |
Het |
Cdr2 |
T |
G |
7: 120,569,554 (GRCm39) |
I62L |
possibly damaging |
Het |
Ceacam23 |
T |
G |
7: 17,636,398 (GRCm39) |
|
noncoding transcript |
Het |
Clk3 |
T |
C |
9: 57,661,902 (GRCm39) |
I382V |
possibly damaging |
Het |
Cyp2b19 |
A |
G |
7: 26,463,802 (GRCm39) |
Y318C |
probably damaging |
Het |
Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
Dapk1 |
A |
G |
13: 60,878,745 (GRCm39) |
N578S |
probably damaging |
Het |
Dlg5 |
A |
T |
14: 24,208,755 (GRCm39) |
M817K |
probably benign |
Het |
Dtx4 |
A |
G |
19: 12,469,899 (GRCm39) |
V76A |
probably damaging |
Het |
Eps15 |
T |
C |
4: 109,218,427 (GRCm39) |
V430A |
probably benign |
Het |
Fhip2b |
A |
G |
14: 70,823,805 (GRCm39) |
Y568H |
probably benign |
Het |
Fxyd5 |
T |
C |
7: 30,735,896 (GRCm39) |
N104S |
probably benign |
Het |
Ift122 |
A |
G |
6: 115,861,311 (GRCm39) |
D193G |
probably damaging |
Het |
Lrrcc1 |
A |
G |
3: 14,628,084 (GRCm39) |
E542G |
probably damaging |
Het |
Macc1 |
T |
C |
12: 119,411,393 (GRCm39) |
|
probably benign |
Het |
Ndst3 |
T |
A |
3: 123,346,327 (GRCm39) |
Y234F |
possibly damaging |
Het |
Or5b120 |
A |
T |
19: 13,479,872 (GRCm39) |
H55L |
probably damaging |
Het |
Pes1 |
T |
C |
11: 3,927,123 (GRCm39) |
F429S |
probably damaging |
Het |
Polr3e |
C |
G |
7: 120,541,787 (GRCm39) |
D623E |
probably damaging |
Het |
Rapgef6 |
T |
C |
11: 54,585,098 (GRCm39) |
Y1494H |
probably damaging |
Het |
Rbm14 |
T |
C |
19: 4,851,735 (GRCm39) |
|
probably benign |
Het |
Rnf103 |
A |
G |
6: 71,487,001 (GRCm39) |
D544G |
probably benign |
Het |
Slc10a7 |
A |
G |
8: 79,236,261 (GRCm39) |
I20V |
probably damaging |
Het |
Sort1 |
C |
T |
3: 108,253,981 (GRCm39) |
T549I |
possibly damaging |
Het |
Stambpl1 |
G |
A |
19: 34,213,754 (GRCm39) |
V328I |
probably benign |
Het |
Thbd |
A |
G |
2: 148,248,284 (GRCm39) |
L528P |
probably damaging |
Het |
Wbp11 |
A |
T |
6: 136,801,330 (GRCm39) |
M63K |
probably damaging |
Het |
Wdr11 |
T |
A |
7: 129,236,560 (GRCm39) |
I1178N |
probably benign |
Het |
|
Other mutations in Ctsr |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00647:Ctsr
|
APN |
13 |
61,310,556 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01327:Ctsr
|
APN |
13 |
61,310,489 (GRCm39) |
splice site |
probably benign |
|
IGL02169:Ctsr
|
APN |
13 |
61,311,054 (GRCm39) |
splice site |
probably benign |
|
IGL02516:Ctsr
|
APN |
13 |
61,310,992 (GRCm39) |
missense |
probably benign |
|
IGL02739:Ctsr
|
APN |
13 |
61,309,658 (GRCm39) |
missense |
probably benign |
0.01 |
PIT4687001:Ctsr
|
UTSW |
13 |
61,308,346 (GRCm39) |
missense |
possibly damaging |
0.52 |
R0180:Ctsr
|
UTSW |
13 |
61,310,559 (GRCm39) |
missense |
probably damaging |
1.00 |
R1938:Ctsr
|
UTSW |
13 |
61,310,259 (GRCm39) |
missense |
probably benign |
0.00 |
R3856:Ctsr
|
UTSW |
13 |
61,309,750 (GRCm39) |
missense |
possibly damaging |
0.75 |
R4125:Ctsr
|
UTSW |
13 |
61,309,659 (GRCm39) |
missense |
probably benign |
0.17 |
R4135:Ctsr
|
UTSW |
13 |
61,309,084 (GRCm39) |
missense |
probably benign |
0.15 |
R4903:Ctsr
|
UTSW |
13 |
61,310,945 (GRCm39) |
missense |
probably benign |
0.01 |
R5551:Ctsr
|
UTSW |
13 |
61,307,357 (GRCm39) |
missense |
probably damaging |
1.00 |
R5705:Ctsr
|
UTSW |
13 |
61,309,078 (GRCm39) |
missense |
probably damaging |
1.00 |
R5721:Ctsr
|
UTSW |
13 |
61,309,667 (GRCm39) |
missense |
possibly damaging |
0.84 |
R6132:Ctsr
|
UTSW |
13 |
61,309,582 (GRCm39) |
critical splice donor site |
probably null |
|
R6196:Ctsr
|
UTSW |
13 |
61,308,345 (GRCm39) |
missense |
probably benign |
0.09 |
R6719:Ctsr
|
UTSW |
13 |
61,308,265 (GRCm39) |
missense |
possibly damaging |
0.60 |
R7530:Ctsr
|
UTSW |
13 |
61,310,931 (GRCm39) |
missense |
probably damaging |
1.00 |
R7698:Ctsr
|
UTSW |
13 |
61,310,381 (GRCm39) |
missense |
probably benign |
0.01 |
R7963:Ctsr
|
UTSW |
13 |
61,310,276 (GRCm39) |
missense |
probably damaging |
1.00 |
R8251:Ctsr
|
UTSW |
13 |
61,310,592 (GRCm39) |
missense |
probably damaging |
1.00 |
R8431:Ctsr
|
UTSW |
13 |
61,308,304 (GRCm39) |
missense |
probably damaging |
1.00 |
R8810:Ctsr
|
UTSW |
13 |
61,309,639 (GRCm39) |
missense |
probably damaging |
1.00 |
R9464:Ctsr
|
UTSW |
13 |
61,307,295 (GRCm39) |
missense |
possibly damaging |
0.46 |
R9572:Ctsr
|
UTSW |
13 |
61,310,978 (GRCm39) |
missense |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- CCTCTCTGTGAGTCCAAACTG -3'
(R):5'- CAACCACTGGTAGAACAGGGTG -3'
Sequencing Primer
(F):5'- CTGAATTCTTCATCAGTCTTCAAGG -3'
(R):5'- AACAGGGTGGTCAGATTCCC -3'
|
Posted On |
2014-10-30 |