Incidental Mutation 'IGL01110:Capn6'
ID 53336
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Capn6
Ensembl Gene ENSMUSG00000067276
Gene Name calpain 6
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.066) question?
Stock # IGL01110
Quality Score
Status
Chromosome X
Chromosomal Location 142585232-142610408 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 142590246 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Histidine at position 385 (P385H)
Ref Sequence ENSEMBL: ENSMUSP00000084573 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000087316]
AlphaFold O35646
Predicted Effect probably damaging
Transcript: ENSMUST00000087316
AA Change: P385H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000084573
Gene: ENSMUSG00000067276
AA Change: P385H

DomainStartEndE-ValueType
CysPc 8 351 1.53e-205 SMART
calpain_III 350 495 1.68e-56 SMART
C2 517 620 3.4e-9 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Calpains are ubiquitous, well-conserved family of calcium-dependent, cysteine proteases. The calpain proteins are heterodimers consisting of an invariant small subunit and variable large subunits. The large subunit possesses a cysteine protease domain, and both subunits possess calcium-binding domains. Calpains have been implicated in neurodegenerative processes, as their activation can be triggered by calcium influx and oxidative stress. The protein encoded by this gene is highly expressed in the placenta. Its C-terminal region lacks any homology to the calmodulin-like domain of other calpains. The protein lacks critical active site residues and thus is suggested to be proteolytically inactive. The protein may play a role in tumor formation by inhibiting apoptosis and promoting angiogenesis. [provided by RefSeq, Nov 2009]
PHENOTYPE: Female mice homozygous for a knock-out allele display advanced skeletal muscle development during embryogenesis and advanced skeletal muscle regeneration after cardiotoxin-induced degeneration. Male hemizygotes exhibit increased differentiation of primary cultured skeletal muscle cells. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bbs1 G A 19: 4,942,953 (GRCm39) S479L possibly damaging Het
Cavin1 C A 11: 100,861,300 (GRCm39) probably benign Het
Cdh9 A G 15: 16,856,012 (GRCm39) D684G possibly damaging Het
Dlgap5 A G 14: 47,631,783 (GRCm39) probably benign Het
Doc2g A G 19: 4,056,577 (GRCm39) E321G probably damaging Het
Eef1akmt1 A C 14: 57,787,247 (GRCm39) F210V probably damaging Het
Eya1 A G 1: 14,353,354 (GRCm39) S65P probably damaging Het
Gpx8 C T 13: 113,182,218 (GRCm39) V72I probably benign Het
Gria1 A G 11: 57,180,207 (GRCm39) E650G probably damaging Het
Hic1 A T 11: 75,056,345 (GRCm39) L848Q possibly damaging Het
Mmp1b C T 9: 7,384,921 (GRCm39) D243N probably benign Het
Mov10l1 G T 15: 88,905,460 (GRCm39) V872L probably benign Het
Or8g50 T C 9: 39,648,693 (GRCm39) V194A probably benign Het
Or8h9 C T 2: 86,789,265 (GRCm39) C179Y possibly damaging Het
Otof A G 5: 30,619,069 (GRCm39) F25S probably damaging Het
Patj A C 4: 98,301,261 (GRCm39) N182T probably damaging Het
Pik3r6 G A 11: 68,419,652 (GRCm39) probably null Het
Ppil6 G A 10: 41,374,406 (GRCm39) V96I probably benign Het
Sardh T A 2: 27,105,125 (GRCm39) Q666L probably benign Het
Tasp1 A G 2: 139,819,538 (GRCm39) S222P probably damaging Het
Tln2 G T 9: 67,157,864 (GRCm39) C1158* probably null Het
Zfp707 T A 15: 75,847,044 (GRCm39) C292S probably damaging Het
Zfp956 A G 6: 47,940,346 (GRCm39) E235G probably benign Het
Other mutations in Capn6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02486:Capn6 APN X 142,587,673 (GRCm39) missense probably benign 0.00
R2228:Capn6 UTSW X 142,587,785 (GRCm39) missense possibly damaging 0.68
R4037:Capn6 UTSW X 142,590,859 (GRCm39) missense probably damaging 1.00
Z1176:Capn6 UTSW X 142,593,903 (GRCm39) missense probably damaging 1.00
Posted On 2013-06-21