Incidental Mutation 'P0014:Capns2'
ID |
7602 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Capns2
|
Ensembl Gene |
ENSMUSG00000078144 |
Gene Name |
calpain, small subunit 2 |
Synonyms |
30K-2, 2310005G05Rik |
MMRRC Submission |
038267-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.233)
|
Stock # |
P0014 (G1)
|
Quality Score |
|
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
93628035-93629039 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 93628842 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 244
(T244A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000100553
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046290]
[ENSMUST00000104947]
[ENSMUST00000209265]
[ENSMUST00000210099]
|
AlphaFold |
Q9D7J7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000046290
|
SMART Domains |
Protein: ENSMUSP00000049252 Gene: ENSMUSG00000033192
Domain | Start | End | E-Value | Type |
low complexity region
|
5 |
12 |
N/A |
INTRINSIC |
low complexity region
|
35 |
45 |
N/A |
INTRINSIC |
transmembrane domain
|
59 |
81 |
N/A |
INTRINSIC |
PlsC
|
140 |
251 |
2.78e-22 |
SMART |
Blast:PlsC
|
284 |
326 |
3e-19 |
BLAST |
EFh
|
395 |
423 |
4.49e-4 |
SMART |
EFh
|
432 |
460 |
6.11e-6 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000104947
AA Change: T244A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000100553 Gene: ENSMUSG00000078144 AA Change: T244A
Domain | Start | End | E-Value | Type |
low complexity region
|
14 |
43 |
N/A |
INTRINSIC |
low complexity region
|
68 |
77 |
N/A |
INTRINSIC |
EFh
|
122 |
150 |
5.69e0 |
SMART |
EFh
|
152 |
180 |
1.3e1 |
SMART |
EFh
|
217 |
244 |
9.89e1 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151106
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000209265
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000210099
|
Meta Mutation Damage Score |
0.2546 |
Coding Region Coverage |
- 1x: 85.4%
- 3x: 80.7%
- 10x: 66.7%
- 20x: 50.4%
|
Validation Efficiency |
95% (100/105) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 19 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb4 |
A |
G |
5: 9,000,083 (GRCm39) |
Y1017C |
probably benign |
Het |
Acly |
T |
C |
11: 100,375,430 (GRCm39) |
I787V |
probably benign |
Het |
Aldob |
T |
C |
4: 49,538,153 (GRCm39) |
Q325R |
probably benign |
Het |
Armh4 |
C |
T |
14: 49,989,116 (GRCm39) |
E618K |
probably damaging |
Het |
Clec16a |
C |
T |
16: 10,378,020 (GRCm39) |
|
probably benign |
Het |
Creb3 |
A |
G |
4: 43,563,265 (GRCm39) |
T121A |
possibly damaging |
Het |
Ddah1 |
A |
G |
3: 145,558,913 (GRCm39) |
D160G |
probably benign |
Het |
Dhx57 |
A |
T |
17: 80,582,620 (GRCm39) |
H328Q |
probably benign |
Het |
Dmxl2 |
A |
C |
9: 54,309,048 (GRCm39) |
L1901R |
probably damaging |
Het |
Dnah5 |
T |
A |
15: 28,403,619 (GRCm39) |
L3448Q |
probably damaging |
Het |
Gcdh |
A |
G |
8: 85,615,154 (GRCm39) |
|
probably null |
Het |
Lrrc8c |
T |
C |
5: 105,755,110 (GRCm39) |
V295A |
probably benign |
Het |
Nek1 |
A |
T |
8: 61,524,781 (GRCm39) |
|
probably benign |
Het |
Pkp2 |
C |
T |
16: 16,058,386 (GRCm39) |
P356L |
probably benign |
Het |
Sipa1l3 |
T |
C |
7: 29,082,640 (GRCm39) |
T752A |
probably damaging |
Het |
Slc38a2 |
C |
A |
15: 96,588,042 (GRCm39) |
W494L |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,628,814 (GRCm39) |
D12734G |
probably damaging |
Het |
Uggt2 |
A |
G |
14: 119,281,950 (GRCm39) |
S742P |
probably damaging |
Het |
Vwa3b |
C |
T |
1: 37,212,995 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Capns2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01104:Capns2
|
APN |
8 |
93,628,383 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01567:Capns2
|
APN |
8 |
93,628,634 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02349:Capns2
|
APN |
8 |
93,628,690 (GRCm39) |
missense |
probably benign |
0.17 |
IGL02377:Capns2
|
APN |
8 |
93,628,215 (GRCm39) |
missense |
probably benign |
0.15 |
IGL03244:Capns2
|
APN |
8 |
93,628,738 (GRCm39) |
missense |
probably damaging |
1.00 |
R0539:Capns2
|
UTSW |
8 |
93,628,360 (GRCm39) |
missense |
possibly damaging |
0.78 |
R1560:Capns2
|
UTSW |
8 |
93,628,771 (GRCm39) |
missense |
probably damaging |
1.00 |
R4422:Capns2
|
UTSW |
8 |
93,628,252 (GRCm39) |
missense |
possibly damaging |
0.95 |
R4423:Capns2
|
UTSW |
8 |
93,628,252 (GRCm39) |
missense |
possibly damaging |
0.95 |
R4425:Capns2
|
UTSW |
8 |
93,628,252 (GRCm39) |
missense |
possibly damaging |
0.95 |
R4983:Capns2
|
UTSW |
8 |
93,628,530 (GRCm39) |
missense |
probably damaging |
1.00 |
R6898:Capns2
|
UTSW |
8 |
93,628,605 (GRCm39) |
missense |
probably damaging |
1.00 |
R9473:Capns2
|
UTSW |
8 |
93,628,854 (GRCm39) |
makesense |
probably null |
|
|
Protein Function and Prediction |
Capns2 (calpain, small subunit 2) is highly homologous to the small regulatory subunit of the heterodimeric cysteine protease, calpain (1). Capns2 assists in the folding of the rat m-calpain large subunit (1).
|
Expression/Localization |
A BLAST search of human and mouse EST databases indicate that in the human CAPNS2 is expressed in the brain, skin, bladder, lung, fetal heart, and larynx. In the mouse, BLAST indicates that Capns2 is expressed in the skin, head, tongue, vagina, and testis (1).
|
References |
1. Schad, E., Farkas, A., Jekely, G., Tompa, P., and Friedrich, P. (2002) A Novel Human Small Subunit of Calpains. Biochem J. 362, 383-388.
|
Posted On |
2012-10-05 |
Science Writer |
Anne Murray |