Incidental Mutation 'R5721:Ctsr'
ID |
451455 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ctsr
|
Ensembl Gene |
ENSMUSG00000055679 |
Gene Name |
cathepsin R |
Synonyms |
|
MMRRC Submission |
043189-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.082)
|
Stock # |
R5721 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
13 |
Chromosomal Location |
61307029-61312002 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 61309667 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Serine
at position 181
(G181S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000021889
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021889]
|
AlphaFold |
Q9JIA9 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000021889
AA Change: G181S
PolyPhen 2
Score 0.839 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000021889 Gene: ENSMUSG00000055679 AA Change: G181S
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 |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
5031439G07Rik |
A |
T |
15: 84,844,798 (GRCm39) |
V30D |
probably damaging |
Het |
Atl3 |
T |
A |
19: 7,506,376 (GRCm39) |
M302K |
probably benign |
Het |
Ccdc91 |
C |
G |
6: 147,477,001 (GRCm39) |
L230V |
unknown |
Het |
Ciz1 |
C |
T |
2: 32,266,052 (GRCm39) |
T39I |
probably damaging |
Het |
Cog8 |
T |
C |
8: 107,776,780 (GRCm39) |
T532A |
probably benign |
Het |
Drc7 |
T |
C |
8: 95,800,961 (GRCm39) |
|
probably null |
Het |
Dvl2 |
A |
G |
11: 69,896,819 (GRCm39) |
R238G |
possibly damaging |
Het |
Faf1 |
T |
C |
4: 109,792,863 (GRCm39) |
F612L |
probably benign |
Het |
Fbxo40 |
T |
A |
16: 36,789,296 (GRCm39) |
M605L |
probably benign |
Het |
Gm11595 |
G |
A |
11: 99,663,381 (GRCm39) |
R100C |
unknown |
Het |
Gprc6a |
A |
T |
10: 51,491,076 (GRCm39) |
M716K |
probably benign |
Het |
Greb1l |
G |
A |
18: 10,542,427 (GRCm39) |
E1341K |
probably damaging |
Het |
Ift70a1 |
A |
T |
2: 75,811,715 (GRCm39) |
Y123N |
probably damaging |
Het |
Jcad |
A |
T |
18: 4,676,044 (GRCm39) |
T1269S |
possibly damaging |
Het |
Kif23 |
C |
G |
9: 61,851,498 (GRCm39) |
G66A |
probably benign |
Het |
Lrrd1 |
T |
C |
5: 3,900,619 (GRCm39) |
M308T |
probably benign |
Het |
Lsg1 |
C |
T |
16: 30,380,593 (GRCm39) |
A615T |
probably benign |
Het |
Mcph1 |
G |
A |
8: 18,721,223 (GRCm39) |
V684M |
probably damaging |
Het |
Mpv17l |
T |
C |
16: 13,764,658 (GRCm39) |
Y62H |
probably damaging |
Het |
Or10a5 |
T |
C |
7: 106,635,565 (GRCm39) |
S68P |
probably damaging |
Het |
Or13d1 |
G |
T |
4: 52,971,068 (GRCm39) |
W149L |
probably damaging |
Het |
Osgepl1 |
A |
T |
1: 53,360,359 (GRCm39) |
M362L |
possibly damaging |
Het |
P2ry14 |
T |
C |
3: 59,022,452 (GRCm39) |
|
probably null |
Het |
Pacsin3 |
T |
A |
2: 91,094,580 (GRCm39) |
C402S |
probably damaging |
Het |
Papss2 |
A |
G |
19: 32,638,064 (GRCm39) |
Y392C |
probably damaging |
Het |
Plekha8 |
T |
A |
6: 54,590,091 (GRCm39) |
W19R |
probably damaging |
Het |
Prdm15 |
A |
T |
16: 97,608,296 (GRCm39) |
I667N |
possibly damaging |
Het |
Rab11fip2 |
A |
G |
19: 59,924,042 (GRCm39) |
S279P |
probably damaging |
Het |
Slc6a20b |
C |
A |
9: 123,441,054 (GRCm39) |
G131C |
probably null |
Het |
Suox |
T |
C |
10: 128,507,162 (GRCm39) |
I289V |
possibly damaging |
Het |
Tbc1d16 |
C |
T |
11: 119,049,556 (GRCm39) |
|
probably null |
Het |
Tmem269 |
T |
C |
4: 119,067,146 (GRCm39) |
T146A |
probably benign |
Het |
Ttn |
G |
A |
2: 76,558,911 (GRCm39) |
R29657W |
probably damaging |
Het |
Vmn1r84 |
C |
A |
7: 12,096,153 (GRCm39) |
C168F |
probably damaging |
Het |
Zc3h7b |
T |
C |
15: 81,657,499 (GRCm39) |
F180L |
probably benign |
Het |
Zfand4 |
C |
G |
6: 116,264,956 (GRCm39) |
D140E |
probably damaging |
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 |
R2362:Ctsr
|
UTSW |
13 |
61,310,610 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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'- AAATTGTACCCTGAAGATGGTGG -3'
(R):5'- GTCTGATATCTCCAAGGAATCAATC -3'
Sequencing Primer
(F):5'- CCCTGAAGATGGTGGATTATCTCTAC -3'
(R):5'- AGTTTTCTAACTTGTTGCCAGG -3'
|
Posted On |
2017-01-03 |