Incidental Mutation 'IGL02899:Capn3'
ID |
363529 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Capn3
|
Ensembl Gene |
ENSMUSG00000079110 |
Gene Name |
calpain 3 |
Synonyms |
Capa3, Lp82, Capa-3, p94 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.221)
|
Stock # |
IGL02899
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
120294074-120335400 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 120322382 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 414
(N414S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000106344
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028748]
[ENSMUST00000028749]
[ENSMUST00000090028]
[ENSMUST00000110716]
[ENSMUST00000110719]
[ENSMUST00000110721]
|
AlphaFold |
Q64691 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000028748
AA Change: N366S
PolyPhen 2
Score 0.809 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000028748 Gene: ENSMUSG00000079110 AA Change: N366S
Domain | Start | End | E-Value | Type |
CysPc
|
32 |
357 |
5.98e-199 |
SMART |
calpain_III
|
360 |
514 |
4.27e-90 |
SMART |
EFh
|
584 |
612 |
5.53e-4 |
SMART |
EFh
|
614 |
642 |
1.8e-3 |
SMART |
EFh
|
679 |
707 |
4.32e1 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000028749
AA Change: N434S
PolyPhen 2
Score 0.809 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000028749 Gene: ENSMUSG00000079110 AA Change: N434S
Domain | Start | End | E-Value | Type |
CysPc
|
56 |
425 |
2.09e-212 |
SMART |
calpain_III
|
428 |
582 |
4.27e-90 |
SMART |
Pfam:Calpain_u2
|
583 |
653 |
1.3e-31 |
PFAM |
EFh
|
696 |
724 |
5.53e-4 |
SMART |
EFh
|
726 |
754 |
1.8e-3 |
SMART |
EFh
|
791 |
819 |
4.32e1 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000090028
AA Change: N366S
PolyPhen 2
Score 0.809 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000087482 Gene: ENSMUSG00000079110 AA Change: N366S
Domain | Start | End | E-Value | Type |
CysPc
|
32 |
357 |
5.98e-199 |
SMART |
calpain_III
|
360 |
514 |
4.27e-90 |
SMART |
low complexity region
|
585 |
599 |
N/A |
INTRINSIC |
EFh
|
612 |
640 |
5.53e-4 |
SMART |
EFh
|
642 |
670 |
1.8e-3 |
SMART |
EFh
|
707 |
735 |
4.32e1 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000110716
AA Change: N414S
PolyPhen 2
Score 0.809 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000106344 Gene: ENSMUSG00000079110 AA Change: N414S
Domain | Start | End | E-Value | Type |
CysPc
|
32 |
405 |
8.38e-203 |
SMART |
calpain_III
|
408 |
562 |
4.27e-90 |
SMART |
EFh
|
632 |
660 |
5.53e-4 |
SMART |
EFh
|
662 |
690 |
1.8e-3 |
SMART |
EFh
|
727 |
755 |
4.32e1 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000110719
AA Change: N414S
PolyPhen 2
Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000106347 Gene: ENSMUSG00000079110 AA Change: N414S
Domain | Start | End | E-Value | Type |
CysPc
|
32 |
405 |
8.38e-203 |
SMART |
calpain_III
|
408 |
562 |
4.27e-90 |
SMART |
low complexity region
|
633 |
647 |
N/A |
INTRINSIC |
EFh
|
660 |
688 |
5.53e-4 |
SMART |
EFh
|
690 |
718 |
1.8e-3 |
SMART |
EFh
|
755 |
783 |
4.32e1 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000110721
AA Change: N386S
PolyPhen 2
Score 0.796 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000106349 Gene: ENSMUSG00000079110 AA Change: N386S
Domain | Start | End | E-Value | Type |
CysPc
|
56 |
377 |
1.13e-208 |
SMART |
calpain_III
|
380 |
534 |
4.27e-90 |
SMART |
EFh
|
604 |
632 |
5.53e-4 |
SMART |
EFh
|
634 |
662 |
1.8e-3 |
SMART |
EFh
|
699 |
727 |
4.32e1 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124129
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139336
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145993
|
Meta Mutation Damage Score |
0.2147 |
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Calpain, a heterodimer consisting of a large and a small subunit, is a major intracellular protease, although its function has not been well established. This gene encodes a muscle-specific member of the calpain large subunit family that specifically binds to titin. Mutations in this gene are associated with limb-girdle muscular dystrophies type 2A. Alternate promoters and alternative splicing result in multiple transcript variants encoding different isoforms and some variants are ubiquitously expressed. [provided by RefSeq, Jul 2008] PHENOTYPE: Homozygous mutation of this gene results in muscle dystrophy. The psoas, soleus, and deltoid muscles are the most severely affected. The mutant allele appears to be preferentially transmitted resulting in ratio distortion. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arfgef2 |
A |
G |
2: 166,710,971 (GRCm39) |
|
probably benign |
Het |
Btbd7 |
A |
G |
12: 102,803,921 (GRCm39) |
L373P |
probably damaging |
Het |
Ccdc186 |
A |
T |
19: 56,781,920 (GRCm39) |
I753N |
probably benign |
Het |
Ccser2 |
G |
A |
14: 36,662,716 (GRCm39) |
T156I |
probably benign |
Het |
Celsr1 |
A |
G |
15: 85,915,927 (GRCm39) |
M682T |
probably damaging |
Het |
Cep97 |
C |
A |
16: 55,738,903 (GRCm39) |
S267I |
probably damaging |
Het |
Dhx35 |
A |
G |
2: 158,643,370 (GRCm39) |
Y39C |
probably damaging |
Het |
Dscam |
A |
T |
16: 96,510,447 (GRCm39) |
D937E |
probably damaging |
Het |
Elmod2 |
A |
G |
8: 84,043,562 (GRCm39) |
Y202H |
probably damaging |
Het |
Fyco1 |
T |
C |
9: 123,659,396 (GRCm39) |
N260S |
possibly damaging |
Het |
Gm5591 |
A |
G |
7: 38,218,842 (GRCm39) |
L677P |
probably damaging |
Het |
Gmppa |
A |
G |
1: 75,418,474 (GRCm39) |
|
probably null |
Het |
Hltf |
C |
T |
3: 20,153,981 (GRCm39) |
T639I |
probably damaging |
Het |
Inhca |
C |
A |
9: 103,154,773 (GRCm39) |
V173L |
probably damaging |
Het |
Kpnb1 |
T |
C |
11: 97,066,612 (GRCm39) |
Y321C |
probably damaging |
Het |
Lgr4 |
G |
A |
2: 109,748,598 (GRCm39) |
G45R |
probably damaging |
Het |
Ltn1 |
T |
C |
16: 87,179,547 (GRCm39) |
D1538G |
probably benign |
Het |
Maf1 |
T |
A |
15: 76,237,220 (GRCm39) |
|
probably benign |
Het |
Morn5 |
T |
C |
2: 35,945,049 (GRCm39) |
F91S |
probably damaging |
Het |
Ncan |
C |
T |
8: 70,567,698 (GRCm39) |
R138H |
possibly damaging |
Het |
Or10ak7 |
A |
T |
4: 118,791,859 (GRCm39) |
M62K |
probably damaging |
Het |
Or5ac21 |
G |
T |
16: 59,123,649 (GRCm39) |
L44F |
probably damaging |
Het |
Parg |
T |
C |
14: 31,960,531 (GRCm39) |
L82S |
probably damaging |
Het |
Ppp2r2b |
A |
T |
18: 42,778,874 (GRCm39) |
H417Q |
probably damaging |
Het |
Rb1cc1 |
T |
C |
1: 6,334,807 (GRCm39) |
L98P |
probably damaging |
Het |
Ryr1 |
C |
A |
7: 28,748,220 (GRCm39) |
V3752L |
possibly damaging |
Het |
Slc25a12 |
A |
G |
2: 71,109,979 (GRCm39) |
L489P |
probably damaging |
Het |
Slc38a8 |
C |
T |
8: 120,212,282 (GRCm39) |
V354M |
probably benign |
Het |
Slf2 |
A |
G |
19: 44,930,459 (GRCm39) |
E512G |
probably benign |
Het |
Tarbp1 |
A |
G |
8: 127,180,583 (GRCm39) |
M597T |
probably damaging |
Het |
Tgfb3 |
G |
A |
12: 86,116,550 (GRCm39) |
R163C |
probably damaging |
Het |
Tmco5b |
A |
G |
2: 113,127,265 (GRCm39) |
M279V |
probably benign |
Het |
Ttll9 |
G |
A |
2: 152,844,871 (GRCm39) |
G413D |
probably damaging |
Het |
Tut1 |
A |
G |
19: 8,939,751 (GRCm39) |
D245G |
probably damaging |
Het |
Usf3 |
T |
A |
16: 44,041,589 (GRCm39) |
V2023E |
probably damaging |
Het |
Vps33a |
C |
T |
5: 123,669,239 (GRCm39) |
G554D |
probably damaging |
Het |
Zfp27 |
C |
A |
7: 29,595,680 (GRCm39) |
R95M |
possibly damaging |
Het |
|
Other mutations in Capn3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00543:Capn3
|
APN |
2 |
120,316,963 (GRCm39) |
intron |
probably benign |
|
IGL00976:Capn3
|
APN |
2 |
120,322,382 (GRCm39) |
missense |
possibly damaging |
0.81 |
IGL01538:Capn3
|
APN |
2 |
120,332,667 (GRCm39) |
splice site |
probably null |
|
IGL01564:Capn3
|
APN |
2 |
120,311,189 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02527:Capn3
|
APN |
2 |
120,334,966 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02605:Capn3
|
APN |
2 |
120,326,518 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02678:Capn3
|
APN |
2 |
120,333,479 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03255:Capn3
|
APN |
2 |
120,320,189 (GRCm39) |
missense |
probably damaging |
1.00 |
R0053:Capn3
|
UTSW |
2 |
120,322,318 (GRCm39) |
missense |
possibly damaging |
0.95 |
R0053:Capn3
|
UTSW |
2 |
120,322,318 (GRCm39) |
missense |
possibly damaging |
0.95 |
R0096:Capn3
|
UTSW |
2 |
120,333,010 (GRCm39) |
missense |
possibly damaging |
0.94 |
R0096:Capn3
|
UTSW |
2 |
120,333,010 (GRCm39) |
missense |
possibly damaging |
0.94 |
R0276:Capn3
|
UTSW |
2 |
120,318,546 (GRCm39) |
splice site |
probably benign |
|
R0601:Capn3
|
UTSW |
2 |
120,333,077 (GRCm39) |
splice site |
probably null |
|
R0714:Capn3
|
UTSW |
2 |
120,322,361 (GRCm39) |
missense |
probably benign |
0.32 |
R1217:Capn3
|
UTSW |
2 |
120,316,902 (GRCm39) |
nonsense |
probably null |
|
R1530:Capn3
|
UTSW |
2 |
120,312,689 (GRCm39) |
missense |
probably damaging |
1.00 |
R1566:Capn3
|
UTSW |
2 |
120,333,474 (GRCm39) |
missense |
possibly damaging |
0.72 |
R1745:Capn3
|
UTSW |
2 |
120,320,170 (GRCm39) |
missense |
possibly damaging |
0.87 |
R1748:Capn3
|
UTSW |
2 |
120,327,494 (GRCm39) |
missense |
probably benign |
0.10 |
R1861:Capn3
|
UTSW |
2 |
120,316,963 (GRCm39) |
intron |
probably benign |
|
R1960:Capn3
|
UTSW |
2 |
120,294,421 (GRCm39) |
missense |
probably benign |
0.00 |
R1971:Capn3
|
UTSW |
2 |
120,311,228 (GRCm39) |
missense |
possibly damaging |
0.95 |
R1994:Capn3
|
UTSW |
2 |
120,326,418 (GRCm39) |
missense |
probably damaging |
1.00 |
R2043:Capn3
|
UTSW |
2 |
120,322,382 (GRCm39) |
missense |
possibly damaging |
0.81 |
R2254:Capn3
|
UTSW |
2 |
120,331,732 (GRCm39) |
missense |
probably benign |
0.01 |
R2255:Capn3
|
UTSW |
2 |
120,331,732 (GRCm39) |
missense |
probably benign |
0.01 |
R3738:Capn3
|
UTSW |
2 |
120,315,768 (GRCm39) |
missense |
possibly damaging |
0.85 |
R3824:Capn3
|
UTSW |
2 |
120,314,964 (GRCm39) |
splice site |
probably benign |
|
R4796:Capn3
|
UTSW |
2 |
120,333,479 (GRCm39) |
missense |
probably damaging |
1.00 |
R5073:Capn3
|
UTSW |
2 |
120,322,301 (GRCm39) |
missense |
probably damaging |
1.00 |
R5116:Capn3
|
UTSW |
2 |
120,315,773 (GRCm39) |
missense |
probably benign |
0.00 |
R5152:Capn3
|
UTSW |
2 |
120,331,811 (GRCm39) |
intron |
probably benign |
|
R5420:Capn3
|
UTSW |
2 |
120,325,777 (GRCm39) |
intron |
probably benign |
|
R5478:Capn3
|
UTSW |
2 |
120,294,666 (GRCm39) |
splice site |
probably null |
|
R5506:Capn3
|
UTSW |
2 |
120,332,901 (GRCm39) |
missense |
probably damaging |
0.97 |
R5664:Capn3
|
UTSW |
2 |
120,307,506 (GRCm39) |
missense |
probably benign |
0.04 |
R5733:Capn3
|
UTSW |
2 |
120,315,075 (GRCm39) |
nonsense |
probably null |
|
R6212:Capn3
|
UTSW |
2 |
120,307,667 (GRCm39) |
missense |
probably benign |
0.17 |
R7176:Capn3
|
UTSW |
2 |
120,334,973 (GRCm39) |
missense |
possibly damaging |
0.46 |
R7219:Capn3
|
UTSW |
2 |
120,333,935 (GRCm39) |
missense |
probably damaging |
0.99 |
R7365:Capn3
|
UTSW |
2 |
120,325,295 (GRCm39) |
missense |
probably damaging |
0.98 |
R7819:Capn3
|
UTSW |
2 |
120,294,646 (GRCm39) |
missense |
probably benign |
0.05 |
R8052:Capn3
|
UTSW |
2 |
120,316,867 (GRCm39) |
missense |
probably benign |
|
R8834:Capn3
|
UTSW |
2 |
120,294,534 (GRCm39) |
missense |
probably damaging |
0.98 |
R8970:Capn3
|
UTSW |
2 |
120,294,566 (GRCm39) |
missense |
possibly damaging |
0.90 |
R9088:Capn3
|
UTSW |
2 |
120,321,451 (GRCm39) |
missense |
probably benign |
|
R9473:Capn3
|
UTSW |
2 |
120,326,535 (GRCm39) |
nonsense |
probably null |
|
R9512:Capn3
|
UTSW |
2 |
120,326,535 (GRCm39) |
missense |
probably damaging |
0.99 |
R9663:Capn3
|
UTSW |
2 |
120,316,859 (GRCm39) |
missense |
probably benign |
0.00 |
|
Posted On |
2015-12-18 |