Incidental Mutation 'R0053:Capn3'
ID |
64320 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Capn3
|
Ensembl Gene |
ENSMUSG00000079110 |
Gene Name |
calpain 3 |
Synonyms |
Capa3, Lp82, Capa-3, p94 |
MMRRC Submission |
038347-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.217)
|
Stock # |
R0053 (G1)
|
Quality Score |
134 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
120294074-120335400 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 120322318 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 413
(I413V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000028749
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028748]
[ENSMUST00000028749]
[ENSMUST00000090028]
[ENSMUST00000110716]
[ENSMUST00000110719]
[ENSMUST00000110721]
|
AlphaFold |
Q64691 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000028748
AA Change: I345V
PolyPhen 2
Score 0.190 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000028748 Gene: ENSMUSG00000079110 AA Change: I345V
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: I413V
PolyPhen 2
Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000028749 Gene: ENSMUSG00000079110 AA Change: I413V
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 |
probably benign
Transcript: ENSMUST00000090028
AA Change: I345V
PolyPhen 2
Score 0.190 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000087482 Gene: ENSMUSG00000079110 AA Change: I345V
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: I393V
PolyPhen 2
Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000106344 Gene: ENSMUSG00000079110 AA Change: I393V
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: I393V
PolyPhen 2
Score 0.290 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000106347 Gene: ENSMUSG00000079110 AA Change: I393V
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 |
probably benign
Transcript: ENSMUST00000110721
AA Change: I365V
PolyPhen 2
Score 0.091 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000106349 Gene: ENSMUSG00000079110 AA Change: I365V
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 |
0.1529 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.9%
- 20x: 96.5%
|
Validation Efficiency |
100% (67/67) |
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: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ada |
A |
T |
2: 163,574,212 (GRCm39) |
V148D |
probably damaging |
Het |
Alpi |
T |
C |
1: 87,026,512 (GRCm39) |
D493G |
probably benign |
Het |
Atp10b |
A |
G |
11: 43,107,391 (GRCm39) |
|
probably benign |
Het |
AY761185 |
A |
T |
8: 21,434,546 (GRCm39) |
|
probably benign |
Het |
Cadm1 |
C |
T |
9: 47,710,712 (GRCm39) |
T205I |
probably damaging |
Het |
Cblb |
C |
T |
16: 51,963,164 (GRCm39) |
T369I |
probably damaging |
Het |
Ccdc54 |
T |
A |
16: 50,410,597 (GRCm39) |
N223I |
probably benign |
Het |
Cdc25c |
A |
G |
18: 34,868,488 (GRCm39) |
V294A |
probably benign |
Het |
Cep170 |
A |
T |
1: 176,609,946 (GRCm39) |
S122T |
possibly damaging |
Het |
Chd1 |
A |
G |
17: 15,967,451 (GRCm39) |
N849D |
probably damaging |
Het |
Cspg4b |
T |
C |
13: 113,505,023 (GRCm39) |
W2051R |
probably benign |
Het |
Dpp3 |
A |
G |
19: 4,973,154 (GRCm39) |
C147R |
probably damaging |
Het |
Dst |
A |
G |
1: 34,333,631 (GRCm39) |
|
probably null |
Het |
Fbxw9 |
T |
A |
8: 85,791,083 (GRCm39) |
L250Q |
probably damaging |
Het |
Gpr75 |
A |
T |
11: 30,842,571 (GRCm39) |
Q492L |
possibly damaging |
Het |
Gramd4 |
T |
A |
15: 86,014,339 (GRCm39) |
|
probably benign |
Het |
Hivep2 |
T |
C |
10: 14,007,865 (GRCm39) |
C1488R |
probably damaging |
Het |
Hjurp |
G |
C |
1: 88,204,937 (GRCm39) |
|
probably benign |
Het |
Inava |
C |
T |
1: 136,155,288 (GRCm39) |
V106I |
probably benign |
Het |
Insr |
A |
G |
8: 3,205,683 (GRCm39) |
S1369P |
probably damaging |
Het |
Insrr |
A |
C |
3: 87,707,759 (GRCm39) |
D67A |
probably damaging |
Het |
Irf2 |
T |
A |
8: 47,271,886 (GRCm39) |
Y158N |
probably benign |
Het |
Katnbl1 |
A |
G |
2: 112,234,586 (GRCm39) |
R23G |
probably benign |
Het |
Lamb2 |
T |
A |
9: 108,363,936 (GRCm39) |
C987* |
probably null |
Het |
Lzts2 |
T |
C |
19: 45,014,746 (GRCm39) |
|
probably benign |
Het |
Mmp14 |
T |
A |
14: 54,676,109 (GRCm39) |
|
probably benign |
Het |
Mycbpap |
A |
G |
11: 94,402,562 (GRCm39) |
Y258H |
probably damaging |
Het |
Nav3 |
A |
G |
10: 109,602,778 (GRCm39) |
|
probably benign |
Het |
Or10j7 |
T |
C |
1: 173,011,845 (GRCm39) |
D52G |
probably benign |
Het |
Or4c100 |
T |
A |
2: 88,356,507 (GRCm39) |
N193K |
probably damaging |
Het |
Parp10 |
T |
A |
15: 76,126,446 (GRCm39) |
L247F |
probably damaging |
Het |
Pcsk6 |
C |
T |
7: 65,633,451 (GRCm39) |
|
probably benign |
Het |
Pgap3 |
A |
T |
11: 98,281,924 (GRCm39) |
V129D |
probably benign |
Het |
Pibf1 |
A |
G |
14: 99,377,993 (GRCm39) |
Y373C |
probably damaging |
Het |
Plcb1 |
A |
G |
2: 135,136,835 (GRCm39) |
E310G |
probably benign |
Het |
Plin3 |
T |
C |
17: 56,586,892 (GRCm39) |
D385G |
probably damaging |
Het |
Pole |
A |
T |
5: 110,441,206 (GRCm39) |
D220V |
probably damaging |
Het |
Ptprk |
T |
A |
10: 28,351,105 (GRCm39) |
F533I |
probably damaging |
Het |
Resf1 |
T |
A |
6: 149,229,088 (GRCm39) |
D711E |
probably benign |
Het |
Rufy1 |
A |
T |
11: 50,292,292 (GRCm39) |
M499K |
probably benign |
Het |
Scn1a |
T |
G |
2: 66,130,119 (GRCm39) |
D1232A |
probably benign |
Het |
Sec23ip |
T |
C |
7: 128,346,891 (GRCm39) |
L49P |
probably damaging |
Het |
Sf3b1 |
G |
A |
1: 55,039,532 (GRCm39) |
Q698* |
probably null |
Het |
Shprh |
A |
T |
10: 11,070,116 (GRCm39) |
|
probably null |
Het |
Snd1 |
C |
A |
6: 28,745,334 (GRCm39) |
|
probably benign |
Het |
Stab1 |
C |
T |
14: 30,862,644 (GRCm39) |
A2260T |
possibly damaging |
Het |
Stpg2 |
A |
G |
3: 138,918,082 (GRCm39) |
Q60R |
probably benign |
Het |
Strn |
T |
C |
17: 78,964,363 (GRCm39) |
H687R |
possibly damaging |
Het |
Tgfb3 |
A |
T |
12: 86,124,603 (GRCm39) |
I35N |
probably damaging |
Het |
Tnks2 |
T |
C |
19: 36,852,765 (GRCm39) |
S166P |
probably damaging |
Het |
Tyw5 |
G |
A |
1: 57,440,597 (GRCm39) |
T55M |
probably damaging |
Het |
Usp19 |
A |
G |
9: 108,374,369 (GRCm39) |
|
probably null |
Het |
Zfp13 |
A |
T |
17: 23,795,122 (GRCm39) |
I483N |
probably 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 |
IGL02899:Capn3
|
APN |
2 |
120,322,382 (GRCm39) |
missense |
possibly damaging |
0.81 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AACAAGCCAAGTGACATCAGGGTC -3'
(R):5'- TCAAGCTCAAGTTGCTACAAGCTCC -3'
Sequencing Primer
(F):5'- TGTGTGAGTGTCTCCTCTCT -3'
(R):5'- TTTAGGACAGGCTCCATAAGTG -3'
|
Posted On |
2013-08-06 |