Incidental Mutation 'R1566:Capn3'
ID |
175247 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Capn3
|
Ensembl Gene |
ENSMUSG00000079110 |
Gene Name |
calpain 3 |
Synonyms |
Capa3, Lp82, Capa-3, p94 |
MMRRC Submission |
039605-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.221)
|
Stock # |
R1566 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
120294074-120335400 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 120333474 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Serine
at position 627
(R627S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000087482
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028748]
[ENSMUST00000028749]
[ENSMUST00000055241]
[ENSMUST00000090028]
[ENSMUST00000110716]
[ENSMUST00000110719]
[ENSMUST00000110721]
|
AlphaFold |
Q64691 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000028748
AA Change: R599S
PolyPhen 2
Score 0.192 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000028748 Gene: ENSMUSG00000079110 AA Change: R599S
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 |
probably benign
Transcript: ENSMUST00000028749
AA Change: R711S
PolyPhen 2
Score 0.123 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000028749 Gene: ENSMUSG00000079110 AA Change: R711S
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: ENSMUST00000055241
|
SMART Domains |
Protein: ENSMUSP00000055602 Gene: ENSMUSG00000027288
Domain | Start | End | E-Value | Type |
ZnF_C2H2
|
5 |
29 |
1.51e0 |
SMART |
ZnF_C2H2
|
43 |
67 |
7.18e1 |
SMART |
low complexity region
|
75 |
92 |
N/A |
INTRINSIC |
low complexity region
|
141 |
152 |
N/A |
INTRINSIC |
low complexity region
|
199 |
212 |
N/A |
INTRINSIC |
low complexity region
|
466 |
480 |
N/A |
INTRINSIC |
coiled coil region
|
800 |
823 |
N/A |
INTRINSIC |
low complexity region
|
842 |
856 |
N/A |
INTRINSIC |
low complexity region
|
1049 |
1062 |
N/A |
INTRINSIC |
low complexity region
|
1312 |
1321 |
N/A |
INTRINSIC |
low complexity region
|
1361 |
1373 |
N/A |
INTRINSIC |
low complexity region
|
1389 |
1409 |
N/A |
INTRINSIC |
WD40
|
1525 |
1562 |
9.24e-4 |
SMART |
WD40
|
1565 |
1607 |
1.83e-7 |
SMART |
PQQ
|
1587 |
1618 |
3.42e2 |
SMART |
WD40
|
1651 |
1691 |
3.45e-1 |
SMART |
PQQ
|
1671 |
1702 |
9.14e1 |
SMART |
WD40
|
1694 |
1731 |
2.12e-3 |
SMART |
PQQ
|
1711 |
1742 |
6.42e0 |
SMART |
WD40
|
1734 |
1771 |
6e-3 |
SMART |
PQQ
|
1751 |
1782 |
5.7e2 |
SMART |
WD40
|
1774 |
1811 |
3.58e-1 |
SMART |
ZnF_C2H2
|
1818 |
1843 |
5.34e-1 |
SMART |
ZnF_C2H2
|
1851 |
1879 |
1.31e2 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000090028
AA Change: R627S
PolyPhen 2
Score 0.721 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000087482 Gene: ENSMUSG00000079110 AA Change: R627S
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: R647S
PolyPhen 2
Score 0.564 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000106344 Gene: ENSMUSG00000079110 AA Change: R647S
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: R675S
PolyPhen 2
Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000106347 Gene: ENSMUSG00000079110 AA Change: R675S
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: R619S
PolyPhen 2
Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000106349 Gene: ENSMUSG00000079110 AA Change: R619S
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: ENSMUST00000145993
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151342
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125238
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139336
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124129
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141181
|
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.7%
- 20x: 90.9%
|
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: 69 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700012B07Rik |
T |
A |
11: 109,679,632 (GRCm39) |
I247F |
probably benign |
Het |
Afap1l1 |
T |
C |
18: 61,888,714 (GRCm39) |
N119S |
probably benign |
Het |
Ap2a1 |
T |
C |
7: 44,552,904 (GRCm39) |
D721G |
probably benign |
Het |
Ap3m2 |
C |
T |
8: 23,293,967 (GRCm39) |
V28M |
probably damaging |
Het |
Arhgef7 |
A |
G |
8: 11,832,620 (GRCm39) |
T32A |
possibly damaging |
Het |
Avl9 |
C |
T |
6: 56,713,467 (GRCm39) |
R242* |
probably null |
Het |
Bsn |
G |
A |
9: 108,003,184 (GRCm39) |
T407I |
probably benign |
Het |
Car13 |
G |
A |
3: 14,715,758 (GRCm39) |
R92Q |
probably benign |
Het |
Clcn1 |
T |
C |
6: 42,268,374 (GRCm39) |
I149T |
possibly damaging |
Het |
Col1a2 |
G |
T |
6: 4,523,613 (GRCm39) |
G514V |
probably damaging |
Het |
Ctsw |
C |
A |
19: 5,515,445 (GRCm39) |
C347F |
probably damaging |
Het |
Dna2 |
C |
T |
10: 62,784,966 (GRCm39) |
R28W |
probably benign |
Het |
Eif1ad8 |
A |
T |
12: 87,564,001 (GRCm39) |
H112L |
probably benign |
Het |
Eml1 |
T |
A |
12: 108,438,151 (GRCm39) |
V97D |
probably damaging |
Het |
Epb41l1 |
A |
G |
2: 156,363,879 (GRCm39) |
E796G |
probably benign |
Het |
Gdnf |
A |
G |
15: 7,863,895 (GRCm39) |
K102R |
probably benign |
Het |
Gm1110 |
T |
C |
9: 26,792,166 (GRCm39) |
E618G |
probably damaging |
Het |
Gmnc |
T |
C |
16: 26,782,689 (GRCm39) |
D22G |
probably damaging |
Het |
Greb1 |
T |
C |
12: 16,761,829 (GRCm39) |
D517G |
possibly damaging |
Het |
Gsta1 |
A |
T |
9: 78,149,741 (GRCm39) |
K185* |
probably null |
Het |
Ift88 |
A |
G |
14: 57,678,468 (GRCm39) |
D160G |
probably benign |
Het |
Intu |
T |
A |
3: 40,647,008 (GRCm39) |
I627N |
probably damaging |
Het |
Itgav |
T |
A |
2: 83,566,974 (GRCm39) |
F101L |
probably damaging |
Het |
Kars1 |
C |
T |
8: 112,724,290 (GRCm39) |
V475I |
probably benign |
Het |
Klra3 |
G |
C |
6: 130,310,107 (GRCm39) |
R138G |
probably benign |
Het |
Klra7 |
A |
G |
6: 130,208,564 (GRCm39) |
V6A |
probably damaging |
Het |
Krtap6-2 |
A |
G |
16: 89,216,626 (GRCm39) |
S114P |
unknown |
Het |
Ldlrad4 |
T |
C |
18: 68,383,669 (GRCm39) |
S122P |
probably benign |
Het |
Lig4 |
C |
A |
8: 10,023,650 (GRCm39) |
L43F |
probably benign |
Het |
Mfsd4a |
T |
C |
1: 131,986,917 (GRCm39) |
D137G |
probably damaging |
Het |
Mmel1 |
C |
T |
4: 154,968,110 (GRCm39) |
R149C |
probably damaging |
Het |
Morc2b |
T |
A |
17: 33,355,948 (GRCm39) |
H608L |
probably benign |
Het |
Mrgpra6 |
G |
A |
7: 46,838,652 (GRCm39) |
T182I |
probably benign |
Het |
Nat8l |
C |
A |
5: 34,158,200 (GRCm39) |
N203K |
probably benign |
Het |
Nin |
A |
T |
12: 70,101,253 (GRCm39) |
V448E |
probably damaging |
Het |
Or10a4 |
T |
G |
7: 106,696,759 (GRCm39) |
F29C |
probably damaging |
Het |
Or2m12 |
T |
A |
16: 19,105,077 (GRCm39) |
M139L |
possibly damaging |
Het |
Or5k15 |
T |
A |
16: 58,709,903 (GRCm39) |
I227F |
probably damaging |
Het |
Or8k21 |
G |
A |
2: 86,145,129 (GRCm39) |
T167I |
probably benign |
Het |
Pank4 |
T |
C |
4: 155,064,978 (GRCm39) |
L759P |
probably damaging |
Het |
Pcm1 |
T |
A |
8: 41,743,810 (GRCm39) |
N1152K |
probably damaging |
Het |
Pitpnm3 |
A |
T |
11: 71,949,785 (GRCm39) |
|
probably null |
Het |
Plekhg3 |
T |
C |
12: 76,618,839 (GRCm39) |
M497T |
possibly damaging |
Het |
Ppfia3 |
T |
C |
7: 44,990,112 (GRCm39) |
D1138G |
probably damaging |
Het |
Prl6a1 |
T |
A |
13: 27,499,410 (GRCm39) |
S59R |
possibly damaging |
Het |
Pth2r |
A |
G |
1: 65,427,697 (GRCm39) |
S457G |
possibly damaging |
Het |
Rbm25 |
T |
A |
12: 83,721,828 (GRCm39) |
N671K |
probably damaging |
Het |
Rbm26 |
T |
A |
14: 105,397,980 (GRCm39) |
K47N |
unknown |
Het |
Ryr1 |
T |
A |
7: 28,791,600 (GRCm39) |
I1435F |
possibly damaging |
Het |
Scin |
T |
A |
12: 40,131,673 (GRCm39) |
H287L |
probably benign |
Het |
Serpinb9e |
T |
C |
13: 33,437,477 (GRCm39) |
L120P |
probably damaging |
Het |
Slc34a1 |
A |
C |
13: 55,559,844 (GRCm39) |
|
probably null |
Het |
Slc39a10 |
A |
G |
1: 46,875,245 (GRCm39) |
F19S |
possibly damaging |
Het |
Sos1 |
A |
G |
17: 80,761,345 (GRCm39) |
V117A |
probably damaging |
Het |
Spta1 |
C |
A |
1: 174,012,272 (GRCm39) |
N359K |
probably benign |
Het |
Sspo |
G |
A |
6: 48,443,804 (GRCm39) |
|
probably null |
Het |
Stx5a |
T |
A |
19: 8,719,675 (GRCm39) |
D13E |
probably damaging |
Het |
Supt16 |
G |
A |
14: 52,414,112 (GRCm39) |
A489V |
probably damaging |
Het |
Tap1 |
T |
A |
17: 34,408,520 (GRCm39) |
L253Q |
probably benign |
Het |
Tmc6 |
A |
G |
11: 117,660,262 (GRCm39) |
S659P |
probably damaging |
Het |
Tnfsf14 |
T |
C |
17: 57,500,876 (GRCm39) |
D65G |
probably benign |
Het |
Ttc28 |
G |
A |
5: 111,373,543 (GRCm39) |
S962N |
probably damaging |
Het |
Ugt8a |
T |
C |
3: 125,669,207 (GRCm39) |
Y299C |
probably damaging |
Het |
Upk1a |
A |
G |
7: 30,309,145 (GRCm39) |
V59A |
possibly damaging |
Het |
Usp38 |
T |
C |
8: 81,711,432 (GRCm39) |
T868A |
probably benign |
Het |
Wdsub1 |
G |
A |
2: 59,707,059 (GRCm39) |
H58Y |
probably damaging |
Het |
Zc3h7b |
T |
C |
15: 81,653,035 (GRCm39) |
S19P |
possibly damaging |
Het |
Zfp385b |
A |
C |
2: 77,246,257 (GRCm39) |
F257V |
probably benign |
Het |
Zmym4 |
A |
C |
4: 126,804,940 (GRCm39) |
I188S |
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 |
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 |
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 |
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'- AGCTGTAAAGCTGGCAGGAACTC -3'
(R):5'- TGCATCATTGACTGCATTTCGCATC -3'
Sequencing Primer
(F):5'- CTGGCAGGAACTCTGGTTAAG -3'
(R):5'- GACTGCATTTCGCATCTCATAG -3'
|
Posted On |
2014-04-24 |