Incidental Mutation 'P0014:Capns2'
ID 7602
Institutional Source Beutler Lab
Gene Symbol Capns2
Ensembl Gene ENSMUSG00000078144
Gene Name calpain, small subunit 2
Synonyms 30K-2, 2310005G05Rik
MMRRC Submission 038267-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.233) question?
Stock # P0014 (G1)
Quality Score
Status Validated
Chromosome 8
Chromosomal Location 93628035-93629039 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 93628842 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 244 (T244A)
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 damaging
Transcript: ENSMUST00000104947
AA Change: T244A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000100553
Gene: ENSMUSG00000078144
AA Change: T244A

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
Meta Mutation Damage Score 0.2546 question?
Coding Region Coverage
  • 1x: 85.4%
  • 3x: 80.7%
  • 10x: 66.7%
  • 20x: 50.4%
Validation Efficiency 95% (100/105)
Allele List at MGI
Other mutations in this stock
Total: 19 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb4 A G 5: 9,000,083 (GRCm39) Y1017C probably benign Het
Acly T C 11: 100,375,430 (GRCm39) I787V probably benign Het
Aldob T C 4: 49,538,153 (GRCm39) Q325R probably benign Het
Armh4 C T 14: 49,989,116 (GRCm39) E618K probably damaging Het
Clec16a C T 16: 10,378,020 (GRCm39) probably benign Het
Creb3 A G 4: 43,563,265 (GRCm39) T121A possibly damaging Het
Ddah1 A G 3: 145,558,913 (GRCm39) D160G probably benign Het
Dhx57 A T 17: 80,582,620 (GRCm39) H328Q probably benign Het
Dmxl2 A C 9: 54,309,048 (GRCm39) L1901R probably damaging Het
Dnah5 T A 15: 28,403,619 (GRCm39) L3448Q probably damaging Het
Gcdh A G 8: 85,615,154 (GRCm39) probably null Het
Lrrc8c T C 5: 105,755,110 (GRCm39) V295A probably benign Het
Nek1 A T 8: 61,524,781 (GRCm39) probably benign Het
Pkp2 C T 16: 16,058,386 (GRCm39) P356L probably benign Het
Sipa1l3 T C 7: 29,082,640 (GRCm39) T752A probably damaging Het
Slc38a2 C A 15: 96,588,042 (GRCm39) W494L probably damaging Het
Ttn T C 2: 76,628,814 (GRCm39) D12734G probably damaging Het
Uggt2 A G 14: 119,281,950 (GRCm39) S742P probably damaging Het
Vwa3b C T 1: 37,212,995 (GRCm39) probably benign Het
Other mutations in Capns2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01104:Capns2 APN 8 93,628,383 (GRCm39) missense probably damaging 1.00
IGL01567:Capns2 APN 8 93,628,634 (GRCm39) missense probably benign 0.01
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
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
Protein Function and Prediction

Capns2 (calpain, small subunit 2) is highly homologous to the small regulatory subunit of the heterodimeric cysteine protease, calpain (1).  Capns2 assists in the folding of the rat m-calpain large subunit (1).

Expression/Localization

A BLAST search of human and mouse EST databases indicate that in the human CAPNS2 is expressed in the brain, skin, bladder, lung, fetal heart, and larynx.  In the mouse, BLAST indicates that Capns2 is expressed in the skin, head, tongue, vagina, and testis (1).

References
Posted On 2012-10-05
Science Writer Anne Murray