Incidental Mutation 'IGL02169:Ctsr'
ID |
282841 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ctsr
|
Ensembl Gene |
ENSMUSG00000055679 |
Gene Name |
cathepsin R |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.082)
|
Stock # |
IGL02169
|
Quality Score |
|
Status
|
|
Chromosome |
13 |
Chromosomal Location |
61307029-61312002 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to G
at 61311054 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000021889
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021889]
|
AlphaFold |
Q9JIA9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000021889
|
SMART Domains |
Protein: ENSMUSP00000021889 Gene: ENSMUSG00000055679
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 |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca8b |
T |
A |
11: 109,843,408 (GRCm39) |
I1001F |
probably damaging |
Het |
Amfr |
A |
T |
8: 94,731,858 (GRCm39) |
|
probably null |
Het |
Apol7c |
T |
G |
15: 77,410,616 (GRCm39) |
D110A |
possibly damaging |
Het |
Bcr |
A |
G |
10: 74,995,714 (GRCm39) |
N899S |
probably benign |
Het |
Ccnt2 |
T |
A |
1: 127,702,126 (GRCm39) |
|
probably benign |
Het |
Clptm1l |
G |
A |
13: 73,759,782 (GRCm39) |
V281I |
probably damaging |
Het |
Dbh |
G |
A |
2: 27,064,910 (GRCm39) |
V374M |
probably damaging |
Het |
Eif3b |
A |
G |
5: 140,415,836 (GRCm39) |
D385G |
possibly damaging |
Het |
F830045P16Rik |
A |
G |
2: 129,305,492 (GRCm39) |
V294A |
probably damaging |
Het |
Foxj2 |
A |
G |
6: 122,805,425 (GRCm39) |
N99S |
probably damaging |
Het |
Gabrr1 |
T |
G |
4: 33,160,261 (GRCm39) |
V315G |
probably damaging |
Het |
Gm21988 |
T |
C |
11: 70,129,764 (GRCm39) |
E25G |
probably benign |
Het |
Islr |
A |
T |
9: 58,065,415 (GRCm39) |
F31I |
possibly damaging |
Het |
L2hgdh |
A |
T |
12: 69,768,171 (GRCm39) |
L109Q |
probably damaging |
Het |
Lrp6 |
A |
G |
6: 134,490,290 (GRCm39) |
I96T |
probably damaging |
Het |
Nup93 |
A |
G |
8: 95,028,757 (GRCm39) |
D330G |
probably damaging |
Het |
Or2ag19 |
T |
A |
7: 106,444,473 (GRCm39) |
Y218* |
probably null |
Het |
Or8k33 |
T |
C |
2: 86,384,226 (GRCm39) |
M81V |
probably benign |
Het |
Phtf1 |
C |
A |
3: 103,904,815 (GRCm39) |
L488I |
probably benign |
Het |
Plac8l1 |
T |
C |
18: 42,312,008 (GRCm39) |
D137G |
probably damaging |
Het |
Pth1r |
G |
A |
9: 110,553,503 (GRCm39) |
T392I |
probably damaging |
Het |
Rab43 |
A |
G |
6: 87,788,406 (GRCm39) |
F41L |
probably damaging |
Het |
Ralgapb |
C |
T |
2: 158,268,124 (GRCm39) |
L76F |
probably damaging |
Het |
Ros1 |
A |
G |
10: 51,958,053 (GRCm39) |
|
probably null |
Het |
Rpl27a |
T |
C |
7: 109,119,185 (GRCm39) |
I43T |
probably benign |
Het |
Set |
G |
A |
2: 29,959,536 (GRCm39) |
D129N |
possibly damaging |
Het |
Sorbs2 |
A |
T |
8: 46,276,786 (GRCm39) |
Y604F |
probably damaging |
Het |
Tg |
T |
C |
15: 66,629,792 (GRCm39) |
V491A |
probably benign |
Het |
Txlna |
T |
C |
4: 129,523,406 (GRCm39) |
T429A |
probably damaging |
Het |
Vmn1r128 |
C |
T |
7: 21,084,163 (GRCm39) |
P289L |
probably damaging |
Het |
Wfs1 |
A |
G |
5: 37,125,823 (GRCm39) |
F356S |
probably damaging |
Het |
Zfp687 |
G |
A |
3: 94,918,743 (GRCm39) |
T343I |
probably damaging |
Het |
Zfp935 |
A |
G |
13: 62,604,745 (GRCm39) |
|
probably null |
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 |
|
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 |
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 |
|
|
Posted On |
2015-04-16 |