Incidental Mutation 'R3705:Capn1'
ID |
258727 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Capn1
|
Ensembl Gene |
ENSMUSG00000024942 |
Gene Name |
calpain 1 |
Synonyms |
Capa1, Capa-1, mu-calpin |
MMRRC Submission |
040698-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R3705 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
19 |
Chromosomal Location |
6038573-6065855 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 6057401 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 349
(E349G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000127498
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025891]
[ENSMUST00000164843]
|
AlphaFold |
O35350 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000025891
AA Change: E349G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000025891 Gene: ENSMUSG00000024942 AA Change: E349G
Domain | Start | End | E-Value | Type |
CysPc
|
37 |
362 |
6.79e-180 |
SMART |
calpain_III
|
365 |
521 |
7.38e-94 |
SMART |
EFh
|
588 |
616 |
1.13e1 |
SMART |
EFh
|
618 |
646 |
2.95e0 |
SMART |
EFh
|
683 |
711 |
7.65e1 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000164843
AA Change: E349G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000127498 Gene: ENSMUSG00000024942 AA Change: E349G
Domain | Start | End | E-Value | Type |
CysPc
|
37 |
362 |
6.79e-180 |
SMART |
calpain_III
|
365 |
521 |
7.38e-94 |
SMART |
EFh
|
588 |
616 |
1.13e1 |
SMART |
EFh
|
618 |
646 |
2.95e0 |
SMART |
EFh
|
683 |
711 |
7.65e1 |
SMART |
|
Meta Mutation Damage Score |
0.9145 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
Validation Efficiency |
100% (46/46) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The calpains, calcium-activated neutral proteases, are nonlysosomal, intracellular cysteine proteases. The mammalian calpains include ubiquitous, stomach-specific, and muscle-specific proteins. The ubiquitous enzymes consist of heterodimers with distinct large, catalytic subunits associated with a common small, regulatory subunit. This gene encodes the large subunit of the ubiquitous enzyme, calpain 1. Several transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Nov 2010] PHENOTYPE: Animals homozygous for a mutation of this gene exhibit decreased platelet aggregation and defective clot retraction although bleeding times remain similar to wild-type. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9930111J21Rik1 |
T |
C |
11: 48,838,803 (GRCm39) |
T595A |
possibly damaging |
Het |
Abca12 |
T |
C |
1: 71,324,864 (GRCm39) |
D1538G |
probably damaging |
Het |
Asap3 |
TGAGGAGGAGGAGGAGGA |
TGAGGAGGAGGAGGAGGAGGA |
4: 135,968,552 (GRCm39) |
|
probably benign |
Het |
Bcap29 |
T |
C |
12: 31,667,151 (GRCm39) |
H170R |
probably benign |
Het |
Bltp1 |
T |
A |
3: 37,041,730 (GRCm39) |
C2703S |
probably damaging |
Het |
Brwd3 |
A |
G |
X: 107,804,021 (GRCm39) |
|
probably benign |
Het |
Cers3 |
G |
T |
7: 66,435,823 (GRCm39) |
A261S |
probably benign |
Het |
Csf3r |
A |
G |
4: 125,926,078 (GRCm39) |
D221G |
possibly damaging |
Het |
Cubn |
T |
A |
2: 13,355,754 (GRCm39) |
H1826L |
probably damaging |
Het |
Dnajc19 |
A |
G |
3: 34,134,378 (GRCm39) |
|
probably null |
Het |
Dync1h1 |
G |
A |
12: 110,607,020 (GRCm39) |
V2566I |
possibly damaging |
Het |
Ehd1 |
A |
G |
19: 6,348,330 (GRCm39) |
D436G |
|
Het |
Fam133b |
T |
C |
5: 3,611,034 (GRCm39) |
|
probably benign |
Het |
Fam43b |
G |
C |
4: 138,122,409 (GRCm39) |
R304G |
probably benign |
Het |
Gpnmb |
T |
A |
6: 49,028,799 (GRCm39) |
I439N |
possibly damaging |
Het |
Grm1 |
G |
A |
10: 10,658,473 (GRCm39) |
T339I |
possibly damaging |
Het |
Gtpbp3 |
T |
G |
8: 71,944,779 (GRCm39) |
S345A |
probably benign |
Het |
Hdac4 |
A |
G |
1: 91,862,416 (GRCm39) |
|
probably benign |
Het |
Hfm1 |
A |
G |
5: 107,040,705 (GRCm39) |
|
probably benign |
Het |
Ift172 |
A |
G |
5: 31,418,781 (GRCm39) |
|
probably null |
Het |
Igfn1 |
T |
C |
1: 135,896,147 (GRCm39) |
N1473S |
probably benign |
Het |
Jak3 |
A |
G |
8: 72,134,166 (GRCm39) |
K423E |
probably damaging |
Het |
Kifc3 |
G |
A |
8: 95,830,656 (GRCm39) |
|
probably benign |
Het |
Lrrc8d |
T |
C |
5: 105,961,341 (GRCm39) |
S584P |
probably damaging |
Het |
Nipal4 |
T |
C |
11: 46,052,678 (GRCm39) |
|
probably benign |
Het |
Nisch |
A |
G |
14: 30,898,702 (GRCm39) |
|
probably benign |
Het |
Nmur2 |
T |
C |
11: 55,931,300 (GRCm39) |
Y137C |
probably damaging |
Het |
Nod2 |
T |
C |
8: 89,379,948 (GRCm39) |
S150P |
probably benign |
Het |
Or5w22 |
A |
G |
2: 87,362,412 (GRCm39) |
I12V |
probably benign |
Het |
Pdgfc |
T |
C |
3: 81,111,751 (GRCm39) |
|
probably null |
Het |
Phldb1 |
G |
T |
9: 44,605,691 (GRCm39) |
H1323N |
probably damaging |
Het |
Ppp1r14c |
A |
G |
10: 3,373,524 (GRCm39) |
I112V |
possibly damaging |
Het |
Pramel26 |
T |
C |
4: 143,538,345 (GRCm39) |
T209A |
probably benign |
Het |
Rcc1l |
A |
T |
5: 134,183,030 (GRCm39) |
V414E |
probably damaging |
Het |
Riok3 |
A |
G |
18: 12,282,011 (GRCm39) |
M327V |
probably benign |
Het |
Sf3b4 |
T |
C |
3: 96,083,944 (GRCm39) |
|
probably benign |
Het |
Spag6 |
A |
G |
2: 18,715,368 (GRCm39) |
Y49C |
probably damaging |
Het |
Syngap1 |
T |
C |
17: 27,178,994 (GRCm39) |
S495P |
probably damaging |
Het |
Tedc2 |
A |
G |
17: 24,435,361 (GRCm39) |
S343P |
probably benign |
Het |
Tenm2 |
T |
A |
11: 35,959,153 (GRCm39) |
D1132V |
probably damaging |
Het |
Tmem63a |
G |
A |
1: 180,790,679 (GRCm39) |
D446N |
possibly damaging |
Het |
Top1 |
G |
A |
2: 160,544,744 (GRCm39) |
|
probably null |
Het |
Tox3 |
G |
T |
8: 90,975,533 (GRCm39) |
T366K |
possibly damaging |
Het |
Tph2 |
G |
A |
10: 114,955,798 (GRCm39) |
Q332* |
probably null |
Het |
Zfr2 |
T |
G |
10: 81,081,913 (GRCm39) |
V493G |
probably benign |
Het |
|
Other mutations in Capn1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00582:Capn1
|
APN |
19 |
6,057,299 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01314:Capn1
|
APN |
19 |
6,040,014 (GRCm39) |
splice site |
probably benign |
|
R0044:Capn1
|
UTSW |
19 |
6,064,373 (GRCm39) |
missense |
probably benign |
0.03 |
R1496:Capn1
|
UTSW |
19 |
6,057,528 (GRCm39) |
critical splice donor site |
probably null |
|
R1646:Capn1
|
UTSW |
19 |
6,047,760 (GRCm39) |
missense |
probably benign |
|
R1852:Capn1
|
UTSW |
19 |
6,059,133 (GRCm39) |
missense |
possibly damaging |
0.95 |
R1924:Capn1
|
UTSW |
19 |
6,040,086 (GRCm39) |
splice site |
probably null |
|
R2006:Capn1
|
UTSW |
19 |
6,041,613 (GRCm39) |
missense |
probably damaging |
1.00 |
R2109:Capn1
|
UTSW |
19 |
6,064,388 (GRCm39) |
missense |
probably benign |
0.01 |
R3704:Capn1
|
UTSW |
19 |
6,057,401 (GRCm39) |
missense |
probably damaging |
1.00 |
R3830:Capn1
|
UTSW |
19 |
6,044,877 (GRCm39) |
missense |
probably damaging |
1.00 |
R4664:Capn1
|
UTSW |
19 |
6,061,045 (GRCm39) |
missense |
probably benign |
0.03 |
R4665:Capn1
|
UTSW |
19 |
6,061,045 (GRCm39) |
missense |
probably benign |
0.03 |
R4666:Capn1
|
UTSW |
19 |
6,061,045 (GRCm39) |
missense |
probably benign |
0.03 |
R4694:Capn1
|
UTSW |
19 |
6,044,761 (GRCm39) |
nonsense |
probably null |
|
R4745:Capn1
|
UTSW |
19 |
6,043,946 (GRCm39) |
missense |
probably benign |
0.12 |
R5103:Capn1
|
UTSW |
19 |
6,059,140 (GRCm39) |
missense |
probably damaging |
1.00 |
R5149:Capn1
|
UTSW |
19 |
6,040,364 (GRCm39) |
splice site |
probably null |
|
R5569:Capn1
|
UTSW |
19 |
6,063,690 (GRCm39) |
missense |
probably benign |
|
R5636:Capn1
|
UTSW |
19 |
6,064,472 (GRCm39) |
missense |
probably benign |
0.22 |
R5906:Capn1
|
UTSW |
19 |
6,061,451 (GRCm39) |
missense |
possibly damaging |
0.90 |
R5907:Capn1
|
UTSW |
19 |
6,047,827 (GRCm39) |
missense |
probably benign |
|
R7038:Capn1
|
UTSW |
19 |
6,064,349 (GRCm39) |
missense |
probably benign |
0.23 |
R7091:Capn1
|
UTSW |
19 |
6,041,586 (GRCm39) |
missense |
possibly damaging |
0.64 |
R7307:Capn1
|
UTSW |
19 |
6,043,938 (GRCm39) |
missense |
possibly damaging |
0.91 |
R7592:Capn1
|
UTSW |
19 |
6,064,469 (GRCm39) |
missense |
probably benign |
0.00 |
R7779:Capn1
|
UTSW |
19 |
6,044,116 (GRCm39) |
missense |
probably benign |
|
R8514:Capn1
|
UTSW |
19 |
6,047,854 (GRCm39) |
missense |
probably damaging |
0.98 |
R8708:Capn1
|
UTSW |
19 |
6,061,328 (GRCm39) |
missense |
probably damaging |
1.00 |
R9452:Capn1
|
UTSW |
19 |
6,057,287 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Capn1
|
UTSW |
19 |
6,064,308 (GRCm39) |
missense |
probably benign |
0.01 |
|
Predicted Primers |
PCR Primer
(F):5'- TCATGACTATTTGTCTCCCAAGG -3'
(R):5'- AGTGGAACAAAGTGGACCCC -3'
Sequencing Primer
(F):5'- TGACTATTTGTCTCCCAAGGAACAC -3'
(R):5'- CCCTATGAACGAGAGCAGCTG -3'
|
Posted On |
2015-01-23 |