Incidental Mutation 'R5111:Capns1'
ID393856
Institutional Source Beutler Lab
Gene Symbol Capns1
Ensembl Gene ENSMUSG00000001794
Gene Namecalpain, small subunit 1
SynonymsD7Ertd146e, Capa-4, Capn4, Capa4
MMRRC Submission 042699-MU
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R5111 (G1)
Quality Score225
Status Not validated
Chromosome7
Chromosomal Location30186936-30198811 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 30192519 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 106 (V106A)
Ref Sequence ENSEMBL: ENSMUSP00000117951 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001845] [ENSMUST00000108196] [ENSMUST00000126116]
Predicted Effect probably benign
Transcript: ENSMUST00000001845
AA Change: V106A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000001845
Gene: ENSMUSG00000001794
AA Change: V106A

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: ENSMUST00000108196
AA Change: V38A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000103831
Gene: ENSMUSG00000001794
AA Change: V38A

DomainStartEndE-ValueType
EFh 75 103 3.93e0 SMART
EFh 105 133 1.42e1 SMART
EFh 170 197 6.09e1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000126116
AA Change: V106A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000117951
Gene: ENSMUSG00000001794
AA Change: V106A

DomainStartEndE-ValueType
low complexity region 10 64 N/A INTRINSIC
EFh 143 171 3.93e0 SMART
EFh 173 201 1.42e1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129761
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141851
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146852
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148973
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207082
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208688
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 95.9%
  • 20x: 91.0%
Validation Efficiency 100% (56/56)
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd17c A T 7: 84,151,438 L136* probably null Het
Ankrd17 A T 5: 90,242,999 S2271T possibly damaging Het
Arhgef10 A G 8: 14,932,408 D179G probably benign Het
Bcan G T 3: 87,994,207 S396Y probably damaging Het
Btbd3 T A 2: 138,278,909 M1K probably null Het
Ccnjl A G 11: 43,556,717 T76A probably benign Het
Cdc23 C A 18: 34,651,689 V7L unknown Het
Col6a6 C T 9: 105,709,474 V1783I possibly damaging Het
Crisp3 T C 17: 40,225,804 T207A possibly damaging Het
Crxos G A 7: 15,896,217 probably benign Het
Csf3r T C 4: 126,030,068 probably null Het
Cyp2a12 A G 7: 27,036,621 Y485C possibly damaging Het
Echdc2 A T 4: 108,169,797 probably benign Het
Elp3 A C 14: 65,560,236 Y329D probably damaging Het
Fbxw16 T C 9: 109,436,728 D341G probably benign Het
H2-Ab1 T A 17: 34,267,482 S172T probably damaging Het
Hyal2 T C 9: 107,571,111 V321A probably benign Het
Ighv6-3 A T 12: 114,391,774 S98R probably benign Het
Kank3 A G 17: 33,818,181 E153G possibly damaging Het
Klrb1c C T 6: 128,786,005 R83H probably benign Het
Krtap16-1 T C 11: 99,986,552 K9E possibly damaging Het
Liph G A 16: 21,984,070 S83F probably damaging Het
Lnpep A G 17: 17,578,610 I261T possibly damaging Het
Mdm2 A T 10: 117,691,221 V273D possibly damaging Het
Mterf1a A G 5: 3,891,860 S3P probably benign Het
Myt1 A G 2: 181,795,885 T172A probably benign Het
Nufip2 T A 11: 77,691,843 S194R probably benign Het
Nusap1 T A 2: 119,630,356 L110* probably null Het
Palb2 A T 7: 122,117,305 C488* probably null Het
Pcdhac1 A T 18: 37,091,505 N457I probably damaging Het
Per1 A T 11: 69,100,786 S49C probably damaging Het
Ppargc1b A T 18: 61,310,487 I535N probably damaging Het
Rb1cc1 T C 1: 6,214,634 probably benign Het
Rpap1 A T 2: 119,771,247 L744Q probably damaging Het
Sdk1 A G 5: 142,127,845 E1549G probably damaging Het
Tnr C T 1: 159,886,228 T742I probably benign Het
Trp53bp1 A T 2: 121,211,387 H1229Q probably damaging Het
Unc80 A G 1: 66,527,995 H920R possibly damaging Het
Urb1 A C 16: 90,752,017 S2268A probably benign Het
Usp32 A T 11: 85,077,331 Y169N possibly damaging Het
Vmn2r18 A T 5: 151,562,448 M527K possibly damaging Het
Vmn2r93 A T 17: 18,326,064 I733F probably damaging Het
Vstm2l A G 2: 157,935,469 D89G probably damaging Het
Zdhhc8 G T 16: 18,226,748 Q303K probably benign Het
Zfand2a A G 5: 139,473,754 V159A probably benign Het
Zswim6 A G 13: 107,728,635 noncoding transcript Het
Other mutations in Capns1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01081:Capns1 APN 7 30190140 missense probably benign 0.00
IGL01128:Capns1 APN 7 30190133 missense probably benign 0.00
IGL02175:Capns1 APN 7 30190532 missense probably benign 0.28
IGL02966:Capns1 APN 7 30192193 missense probably damaging 1.00
IGL02799:Capns1 UTSW 7 30192219 missense probably benign 0.05
R0578:Capns1 UTSW 7 30194028 unclassified probably benign
R1484:Capns1 UTSW 7 30194086 unclassified probably benign
R2153:Capns1 UTSW 7 30192340 missense probably damaging 1.00
R5323:Capns1 UTSW 7 30187722 missense possibly damaging 0.85
R5350:Capns1 UTSW 7 30190126 missense probably damaging 1.00
R6684:Capns1 UTSW 7 30193899 missense probably damaging 0.98
R7573:Capns1 UTSW 7 30192535 missense probably damaging 1.00
R7611:Capns1 UTSW 7 30190114 missense probably damaging 1.00
Predicted Primers
Posted On2016-06-15