Incidental Mutation 'R8828:Capns1'
ID 673608
Institutional Source Beutler Lab
Gene Symbol Capns1
Ensembl Gene ENSMUSG00000001794
Gene Name calpain, small subunit 1
Synonyms D7Ertd146e, Capa4, Capn4, Capa-4
MMRRC Submission 068730-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8828 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 29886361-29898236 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 29889963 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 182 (D182V)
Ref Sequence ENSEMBL: ENSMUSP00000117951 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001845] [ENSMUST00000098594] [ENSMUST00000108196] [ENSMUST00000126116] [ENSMUST00000208441]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000001845
AA Change: D182V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000001845
Gene: ENSMUSG00000001794
AA Change: D182V

DomainStartEndE-ValueType
low complexity region 10 64 N/A INTRINSIC
EFh 143 171 3.93e0 SMART
EFh 173 201 1.42e1 SMART
EFh 238 265 6.09e1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000098594
SMART Domains Protein: ENSMUSP00000096193
Gene: ENSMUSG00000074218

DomainStartEndE-ValueType
Pfam:COX7a 23 79 1.3e-34 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000108196
AA Change: D114V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000103831
Gene: ENSMUSG00000001794
AA Change: D114V

DomainStartEndE-ValueType
EFh 75 103 3.93e0 SMART
EFh 105 133 1.42e1 SMART
EFh 170 197 6.09e1 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000126116
AA Change: D182V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000117951
Gene: ENSMUSG00000001794
AA Change: D182V

DomainStartEndE-ValueType
low complexity region 10 64 N/A INTRINSIC
EFh 143 171 3.93e0 SMART
EFh 173 201 1.42e1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000208441
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the calpain small subunit family. Calpains are calcium-dependent cysteine proteinases that are widely distributed in mammalian cells. Calpains operate as heterodimers, comprising a specific large catalytic subunit (calpain 1 subunit in Calpain I, and calpain 2 subunit in Calpain II), and a common small regulatory subunit encoded by this gene. This encoded protein is essential for the stability and function of both calpain heterodimers, whose proteolytic activities influence various cellular functions including apoptosis, proliferation, migration, adhesion, and autophagy. Calpains have been implicated in neurodegenerative processes, such as myotonic dystrophy. A pseudogene of this gene has been defined on chromosome 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]
PHENOTYPE: Homozygous mutation of this gene results in embryonic lethality around E11.5. Mutant embryos exhibit cardiac developmental defects, reduced yolk sac vasculature, hemorrhaging in the area between the embryo and amnion, and accumulation of nucleated erythroid cells in the heart chambers, blood vessels, and developing liver. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi3bp A T 16: 56,507,455 (GRCm39) Y1091F probably damaging Het
Arl8b A G 6: 108,792,250 (GRCm39) I104V probably benign Het
Asb2 C A 12: 103,304,457 (GRCm39) G16C probably benign Het
Bptf T C 11: 106,945,836 (GRCm39) S2468G probably damaging Het
Cct5 T C 15: 31,594,658 (GRCm39) H182R possibly damaging Het
Cd200 G A 16: 45,215,157 (GRCm39) R165C probably benign Het
Chd3 C T 11: 69,247,097 (GRCm39) V1024I probably damaging Het
Chd8 CAGGGTCTGCCCTCATGGTATTGTATTTCTCATAGCCTAAAAGAACAAGGG C 14: 52,448,037 (GRCm39) probably null Het
Csmd1 T C 8: 16,048,794 (GRCm39) S2303G probably benign Het
Ctsl A G 13: 64,514,314 (GRCm39) S255P probably damaging Het
Dclre1c T G 2: 3,444,714 (GRCm39) N268K possibly damaging Het
Dock10 T C 1: 80,521,134 (GRCm39) D1158G probably damaging Het
Dock6 A T 9: 21,757,797 (GRCm39) D102E probably benign Het
Dvl3 T A 16: 20,344,495 (GRCm39) D290E probably damaging Het
Fam72a T A 1: 131,458,461 (GRCm39) C74* probably null Het
Gnrh1 T A 14: 67,985,334 (GRCm39) L73Q probably damaging Het
Grina T A 15: 76,132,497 (GRCm39) S115T probably damaging Het
Grm3 A T 5: 9,554,725 (GRCm39) S856T probably benign Het
Hars1 C A 18: 36,899,996 (GRCm39) R490L possibly damaging Het
Ide T A 19: 37,292,241 (GRCm39) K318I Het
Immt C A 6: 71,829,762 (GRCm39) S156* probably null Het
Iqcd A G 5: 120,738,232 (GRCm39) I17V possibly damaging Het
Klhdc1 T C 12: 69,298,808 (GRCm39) V131A probably damaging Het
Klk6 C A 7: 43,478,061 (GRCm39) N144K Het
Klk6 T C 7: 43,478,062 (GRCm39) C145R probably damaging Het
Lrfn2 A T 17: 49,404,132 (GRCm39) T752S probably damaging Het
Lrguk A C 6: 34,080,572 (GRCm39) Q1269P unknown Het
Lrwd1 G T 5: 136,164,787 (GRCm39) Q7K probably benign Het
Macf1 A T 4: 123,302,204 (GRCm39) M766K probably benign Het
Myo3a A T 2: 22,245,864 (GRCm39) T4S probably benign Het
Neb T C 2: 52,084,438 (GRCm39) Y5587C probably damaging Het
Nf1 A T 11: 79,286,679 (GRCm39) probably null Het
Npepps G T 11: 97,131,823 (GRCm39) R344S probably damaging Het
Nudt16l2 C T 9: 105,021,648 (GRCm39) D133N probably damaging Het
Or52p1 A T 7: 104,267,486 (GRCm39) Y200F probably damaging Het
Or5v1b A G 17: 37,841,333 (GRCm39) N155S probably damaging Het
Pcnx1 T A 12: 82,042,597 (GRCm39) W2286R probably damaging Het
Ppm1g A T 5: 31,365,768 (GRCm39) N51K probably benign Het
Ppp1r13b T C 12: 111,799,981 (GRCm39) K722E probably damaging Het
Prim1 A G 10: 127,859,761 (GRCm39) S318G probably damaging Het
Prl4a1 T C 13: 28,207,307 (GRCm39) Y194H probably damaging Het
Prl7c1 A T 13: 27,957,854 (GRCm39) D195E probably benign Het
Psmb2 A G 4: 126,603,330 (GRCm39) D186G probably benign Het
Ptprq A G 10: 107,482,513 (GRCm39) V1020A probably benign Het
Scgb2b20 T C 7: 33,065,689 (GRCm39) T13A unknown Het
Scly C A 1: 91,244,830 (GRCm39) H310Q possibly damaging Het
Sdccag8 G A 1: 176,783,473 (GRCm39) E661K probably damaging Het
Sema4f G A 6: 82,894,873 (GRCm39) L441F probably benign Het
Sema4f A C 6: 82,894,874 (GRCm39) Y440* probably null Het
Tmem262 C T 19: 6,130,118 (GRCm39) probably benign Het
Trim33 A G 3: 103,236,392 (GRCm39) T501A probably damaging Het
Trio C A 15: 27,741,150 (GRCm39) V2692F possibly damaging Het
Ttn A T 2: 76,772,774 (GRCm39) V2453E unknown Het
Ttn G T 2: 76,541,956 (GRCm39) R33677S probably benign Het
Uaca T A 9: 60,778,852 (GRCm39) S1080T probably benign Het
Vav3 T A 3: 109,555,051 (GRCm39) C660S probably benign Het
Vmn1r229 T A 17: 21,034,990 (GRCm39) D78E probably damaging Het
Vmn2r73 A G 7: 85,521,179 (GRCm39) V263A probably damaging Het
Yeats2 A T 16: 19,969,260 (GRCm39) D17V probably benign Het
Zfp658 T A 7: 43,222,240 (GRCm39) W172R probably benign Het
Zfp804a A C 2: 82,089,459 (GRCm39) H1096P possibly damaging Het
Zkscan14 C T 5: 145,138,375 (GRCm39) W37* probably null Het
Zmynd15 A T 11: 70,355,017 (GRCm39) D468V probably damaging Het
Zmynd8 A T 2: 165,654,466 (GRCm39) V682E probably benign Het
Other mutations in Capns1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01081:Capns1 APN 7 29,889,565 (GRCm39) missense probably benign 0.00
IGL01128:Capns1 APN 7 29,889,558 (GRCm39) missense probably benign 0.00
IGL02175:Capns1 APN 7 29,889,957 (GRCm39) missense probably benign 0.28
IGL02966:Capns1 APN 7 29,891,618 (GRCm39) missense probably damaging 1.00
IGL02799:Capns1 UTSW 7 29,891,644 (GRCm39) missense probably benign 0.05
R0578:Capns1 UTSW 7 29,893,453 (GRCm39) unclassified probably benign
R1484:Capns1 UTSW 7 29,893,511 (GRCm39) unclassified probably benign
R2153:Capns1 UTSW 7 29,891,765 (GRCm39) missense probably damaging 1.00
R5111:Capns1 UTSW 7 29,891,944 (GRCm39) missense probably benign
R5323:Capns1 UTSW 7 29,887,147 (GRCm39) missense possibly damaging 0.85
R5350:Capns1 UTSW 7 29,889,551 (GRCm39) missense probably damaging 1.00
R6684:Capns1 UTSW 7 29,893,324 (GRCm39) missense probably damaging 0.98
R7573:Capns1 UTSW 7 29,891,960 (GRCm39) missense probably damaging 1.00
R7611:Capns1 UTSW 7 29,889,539 (GRCm39) missense probably damaging 1.00
R9076:Capns1 UTSW 7 29,893,510 (GRCm39) start codon destroyed probably null
R9115:Capns1 UTSW 7 29,889,978 (GRCm39) missense probably benign 0.31
R9526:Capns1 UTSW 7 29,891,612 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ATGCTCATTCAGGTGGAATCC -3'
(R):5'- TTGTTAGAGCGACACCACAG -3'

Sequencing Primer
(F):5'- ACTCACTTTGTAGACCAGGCTGG -3'
(R):5'- GACACCACAGGCAAGCTGG -3'
Posted On 2021-07-15