Incidental Mutation 'R5478:Capn3'
| ID |
434143 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Capn3
|
| Ensembl Gene |
ENSMUSG00000079110 |
| Gene Name |
calpain 3 |
| Synonyms |
Capa3, Lp82, Capa-3, p94 |
| MMRRC Submission |
043039-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.221)
|
| Stock # |
R5478 (G1)
|
| Quality Score |
173 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
120294074-120335400 bp(+) (GRCm39) |
| Type of Mutation |
splice site (4 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 120294666 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106349
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028749]
[ENSMUST00000110721]
[ENSMUST00000135074]
|
| AlphaFold |
Q64691 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000028749
|
| SMART Domains |
Protein: ENSMUSP00000028749
Gene: ENSMUSG00000079110
| 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 |
noncoding transcript
Transcript: ENSMUST00000043755
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000110721
|
| SMART Domains |
Protein: ENSMUSP00000106349
Gene: ENSMUSG00000079110
| 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: ENSMUST00000127367
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135074
|
| SMART Domains |
Protein: ENSMUSP00000116898
Gene: ENSMUSG00000062646
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
30 |
44 |
N/A |
INTRINSIC |
|
Pfam:Gal_mutarotas_2
|
221 |
292 |
2.3e-21 |
PFAM |
|
Pfam:Glyco_hydro_31
|
333 |
778 |
2.5e-137 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136993
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152437
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145993
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 98.4%
- 3x: 97.4%
- 10x: 95.4%
- 20x: 91.6%
|
| Validation Efficiency |
98% (63/64) |
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc2 |
T |
C |
19: 43,827,904 (GRCm39) |
|
probably benign |
Het |
| Adamts2 |
T |
C |
11: 50,683,478 (GRCm39) |
V920A |
possibly damaging |
Het |
| Alpk1 |
A |
G |
3: 127,471,368 (GRCm39) |
V1038A |
probably damaging |
Het |
| Amotl1 |
A |
G |
9: 14,504,048 (GRCm39) |
|
probably null |
Het |
| Apba2 |
T |
A |
7: 64,344,934 (GRCm39) |
Y41* |
probably null |
Het |
| BC048562 |
G |
A |
9: 108,322,363 (GRCm39) |
|
probably benign |
Het |
| Braf |
A |
G |
6: 39,654,508 (GRCm39) |
L86P |
possibly damaging |
Het |
| Carmil1 |
T |
C |
13: 24,296,028 (GRCm39) |
D371G |
probably damaging |
Het |
| Cdhr4 |
G |
A |
9: 107,872,790 (GRCm39) |
V280I |
possibly damaging |
Het |
| Cdkl2 |
T |
A |
5: 92,187,108 (GRCm39) |
K53* |
probably null |
Het |
| Chl1 |
A |
T |
6: 103,660,182 (GRCm39) |
E353D |
probably damaging |
Het |
| Col4a2 |
T |
A |
8: 11,448,697 (GRCm39) |
N72K |
probably benign |
Het |
| Comtd1 |
A |
T |
14: 21,898,981 (GRCm39) |
|
probably benign |
Het |
| Ctsm |
A |
T |
13: 61,685,543 (GRCm39) |
S290T |
probably benign |
Het |
| Defa35 |
A |
T |
8: 21,555,836 (GRCm39) |
Y65F |
probably benign |
Het |
| Dock8 |
T |
A |
19: 25,057,186 (GRCm39) |
C198S |
probably benign |
Het |
| Epha3 |
A |
C |
16: 63,403,896 (GRCm39) |
M734R |
probably damaging |
Het |
| Fastkd2 |
T |
C |
1: 63,778,345 (GRCm39) |
I406T |
probably benign |
Het |
| Fshr |
C |
T |
17: 89,309,143 (GRCm39) |
V222I |
probably benign |
Het |
| Gm16686 |
A |
T |
4: 88,673,714 (GRCm39) |
|
probably benign |
Het |
| Gm4922 |
T |
C |
10: 18,659,885 (GRCm39) |
E279G |
probably benign |
Het |
| Gm5709 |
A |
T |
3: 59,543,095 (GRCm39) |
|
noncoding transcript |
Het |
| Grin3a |
C |
A |
4: 49,792,481 (GRCm39) |
M417I |
probably benign |
Het |
| Hnf4a |
A |
T |
2: 163,410,926 (GRCm39) |
M408L |
probably benign |
Het |
| Idh1 |
A |
T |
1: 65,200,997 (GRCm39) |
M318K |
probably benign |
Het |
| Krt222 |
A |
G |
11: 99,125,774 (GRCm39) |
S286P |
probably damaging |
Het |
| Mmrn2 |
A |
T |
14: 34,118,539 (GRCm39) |
T142S |
probably benign |
Het |
| Myocd |
G |
T |
11: 65,123,914 (GRCm39) |
|
probably null |
Het |
| Ncam2 |
C |
T |
16: 81,231,766 (GRCm39) |
R77* |
probably null |
Het |
| Or52ab7 |
T |
C |
7: 102,978,032 (GRCm39) |
L113P |
probably damaging |
Het |
| Or5h17 |
A |
T |
16: 58,820,425 (GRCm39) |
I126L |
possibly damaging |
Het |
| Pcdhgc4 |
C |
T |
18: 37,950,375 (GRCm39) |
T597M |
probably damaging |
Het |
| Pdrg1 |
A |
G |
2: 152,857,152 (GRCm39) |
|
probably benign |
Het |
| Per2 |
T |
A |
1: 91,360,590 (GRCm39) |
I521F |
probably benign |
Het |
| Pkhd1 |
G |
A |
1: 20,271,380 (GRCm39) |
L3058F |
probably damaging |
Het |
| Plaat5 |
A |
C |
19: 7,592,036 (GRCm39) |
|
probably benign |
Het |
| Pnliprp1 |
A |
T |
19: 58,723,423 (GRCm39) |
|
probably null |
Het |
| Ppargc1b |
T |
A |
18: 61,440,639 (GRCm39) |
M744L |
probably benign |
Het |
| Prpf18 |
A |
T |
2: 4,643,705 (GRCm39) |
N155K |
probably benign |
Het |
| Pum1 |
T |
A |
4: 130,478,795 (GRCm39) |
N472K |
possibly damaging |
Het |
| Reln |
A |
T |
5: 22,209,201 (GRCm39) |
S1126T |
probably benign |
Het |
| Rnase11 |
A |
G |
14: 51,287,332 (GRCm39) |
L74P |
probably damaging |
Het |
| Slc25a23 |
T |
A |
17: 57,359,780 (GRCm39) |
I324F |
probably damaging |
Het |
| Slc26a10 |
C |
A |
10: 127,009,818 (GRCm39) |
R576L |
probably benign |
Het |
| Slc4a1 |
T |
A |
11: 102,241,140 (GRCm39) |
E921D |
probably damaging |
Het |
| Slc9c1 |
A |
T |
16: 45,374,609 (GRCm39) |
M296L |
probably damaging |
Het |
| Sos1 |
T |
C |
17: 80,741,276 (GRCm39) |
D503G |
probably damaging |
Het |
| Srpk2 |
G |
A |
5: 23,729,181 (GRCm39) |
T486I |
possibly damaging |
Het |
| Sult6b1 |
A |
T |
17: 79,202,101 (GRCm39) |
|
probably null |
Het |
| Tbc1d16 |
T |
C |
11: 119,045,917 (GRCm39) |
E509G |
probably benign |
Het |
| Tktl2 |
T |
C |
8: 66,966,050 (GRCm39) |
V536A |
probably damaging |
Het |
| Ugt2b36 |
A |
T |
5: 87,237,341 (GRCm39) |
V188D |
probably damaging |
Het |
| Veph1 |
T |
C |
3: 66,162,443 (GRCm39) |
T72A |
probably damaging |
Het |
| Vmn2r73 |
A |
T |
7: 85,518,996 (GRCm39) |
I542N |
probably damaging |
Het |
| Vps13d |
G |
A |
4: 144,894,120 (GRCm39) |
P480S |
probably damaging |
Het |
| Zfp319 |
A |
G |
8: 96,052,193 (GRCm39) |
|
probably benign |
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 |
|
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 |
|
|
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'- GCCGCAATTTTCCGATCATC -3'
(R):5'- ACTTTCATGAACAGCAGAAAGC -3'
Sequencing Primer
(F):5'- CATCGGTGTGAAAGAGAAGACATTTG -3'
(R):5'- TGAGAGAAGCAGCCCTGACC -3'
|
| Posted On |
2016-10-06 |
Incidental Mutation