Incidental Mutation 'IGL01567:Capns2'
ID 91008
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Capns2
Ensembl Gene ENSMUSG00000078144
Gene Name calpain, small subunit 2
Synonyms 30K-2, 2310005G05Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.233) question?
Stock # IGL01567
Quality Score
Status
Chromosome 8
Chromosomal Location 93628035-93629039 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 93628634 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 174 (H174Q)
Ref Sequence ENSEMBL: ENSMUSP00000100553 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046290] [ENSMUST00000104947] [ENSMUST00000209265] [ENSMUST00000210099]
AlphaFold Q9D7J7
Predicted Effect probably benign
Transcript: ENSMUST00000046290
SMART Domains Protein: ENSMUSP00000049252
Gene: ENSMUSG00000033192

DomainStartEndE-ValueType
low complexity region 5 12 N/A INTRINSIC
low complexity region 35 45 N/A INTRINSIC
transmembrane domain 59 81 N/A INTRINSIC
PlsC 140 251 2.78e-22 SMART
Blast:PlsC 284 326 3e-19 BLAST
EFh 395 423 4.49e-4 SMART
EFh 432 460 6.11e-6 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000104947
AA Change: H174Q

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000100553
Gene: ENSMUSG00000078144
AA Change: H174Q

DomainStartEndE-ValueType
low complexity region 14 43 N/A INTRINSIC
low complexity region 68 77 N/A INTRINSIC
EFh 122 150 5.69e0 SMART
EFh 152 180 1.3e1 SMART
EFh 217 244 9.89e1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151106
Predicted Effect probably benign
Transcript: ENSMUST00000209265
Predicted Effect probably benign
Transcript: ENSMUST00000210099
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agbl1 A G 7: 76,071,628 (GRCm39) S317G probably benign Het
Akna T C 4: 63,300,087 (GRCm39) T652A probably benign Het
Anxa9 G A 3: 95,209,743 (GRCm39) probably benign Het
Bpifb4 T A 2: 153,789,198 (GRCm39) probably benign Het
Bptf A G 11: 106,949,600 (GRCm39) S2125P probably damaging Het
Cd200 A C 16: 45,215,054 (GRCm39) L199R probably damaging Het
Clasp2 T C 9: 113,709,164 (GRCm39) V651A probably damaging Het
Cox18 G A 5: 90,365,447 (GRCm39) Q251* probably null Het
Depdc1a T C 3: 159,232,183 (GRCm39) S645P probably damaging Het
Dio3 T A 12: 110,245,861 (GRCm39) C66S possibly damaging Het
Dock9 A T 14: 121,890,496 (GRCm39) L258Q probably damaging Het
Ghrhr A G 6: 55,361,108 (GRCm39) D274G probably damaging Het
Gm5129 A G 5: 29,940,862 (GRCm39) probably benign Het
Grb7 A G 11: 98,345,776 (GRCm39) N518S probably damaging Het
Kdm5b G A 1: 134,530,278 (GRCm39) A430T probably damaging Het
Map10 C A 8: 126,398,232 (GRCm39) Q542K probably benign Het
Metap1 T C 3: 138,168,150 (GRCm39) T325A probably damaging Het
Ncan A T 8: 70,560,984 (GRCm39) M661K probably benign Het
Or2f1b T C 6: 42,739,661 (GRCm39) I225T probably benign Het
Or51h5 A G 7: 102,577,623 (GRCm39) I263V probably benign Het
Otog T C 7: 45,926,039 (GRCm39) probably benign Het
Pip4k2b T C 11: 97,620,387 (GRCm39) D116G probably damaging Het
Rps15 T A 10: 80,129,643 (GRCm39) L86Q probably benign Het
Sfxn4 G T 19: 60,842,336 (GRCm39) T122K probably damaging Het
Slc4a3 T C 1: 75,527,526 (GRCm39) V165A probably damaging Het
Spmip7 A G 11: 11,465,015 (GRCm39) H122R possibly damaging Het
Synm A G 7: 67,384,980 (GRCm39) V452A probably damaging Het
Tdpoz1 T C 3: 93,578,013 (GRCm39) H257R possibly damaging Het
Tmem26 A G 10: 68,587,061 (GRCm39) T170A probably damaging Het
Wdfy4 T G 14: 32,873,618 (GRCm39) E230D probably benign Het
Other mutations in Capns2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01104:Capns2 APN 8 93,628,383 (GRCm39) missense probably damaging 1.00
IGL02349:Capns2 APN 8 93,628,690 (GRCm39) missense probably benign 0.17
IGL02377:Capns2 APN 8 93,628,215 (GRCm39) missense probably benign 0.15
IGL03244:Capns2 APN 8 93,628,738 (GRCm39) missense probably damaging 1.00
P0014:Capns2 UTSW 8 93,628,842 (GRCm39) missense probably damaging 1.00
R0539:Capns2 UTSW 8 93,628,360 (GRCm39) missense possibly damaging 0.78
R1560:Capns2 UTSW 8 93,628,771 (GRCm39) missense probably damaging 1.00
R4422:Capns2 UTSW 8 93,628,252 (GRCm39) missense possibly damaging 0.95
R4423:Capns2 UTSW 8 93,628,252 (GRCm39) missense possibly damaging 0.95
R4425:Capns2 UTSW 8 93,628,252 (GRCm39) missense possibly damaging 0.95
R4983:Capns2 UTSW 8 93,628,530 (GRCm39) missense probably damaging 1.00
R6898:Capns2 UTSW 8 93,628,605 (GRCm39) missense probably damaging 1.00
R9473:Capns2 UTSW 8 93,628,854 (GRCm39) makesense probably null
Posted On 2013-12-09