Incidental Mutation 'R5350:Capns1'
ID 423753
Institutional Source Beutler Lab
Gene Symbol Capns1
Ensembl Gene ENSMUSG00000001794
Gene Name calpain, small subunit 1
Synonyms D7Ertd146e, Capa-4, Capn4, Capa4
MMRRC Submission 042929-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5350 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 30186936-30198811 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to A at 30190126 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 216 (R216L)
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: R216L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000001845
Gene: ENSMUSG00000001794
AA Change: R216L

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: R148L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000103831
Gene: ENSMUSG00000001794
AA Change: R148L

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: R216L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000117951
Gene: ENSMUSG00000001794
AA Change: R216L

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 probably benign
Transcript: ENSMUST00000208441
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208688
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 96.0%
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca5 G A 11: 110,319,796 Q186* probably null Het
Abca9 A G 11: 110,115,538 V1247A probably benign Het
Acaca A T 11: 84,215,873 M133L probably damaging Het
Acacb C T 5: 114,244,551 A2100V probably damaging Het
Adamts16 T A 13: 70,753,196 K921* probably null Het
Ankrd55 T G 13: 112,336,226 V144G probably damaging Het
Arap3 A G 18: 37,982,035 L976P probably damaging Het
Atg2a T A 19: 6,251,338 V814E probably damaging Het
Atp2b2 A T 6: 113,759,238 M960K probably damaging Het
Bag1 C T 4: 40,948,007 G66S possibly damaging Het
Bmp8a A T 4: 123,313,295 M391K probably damaging Het
Cdk13 T C 13: 17,803,930 probably benign Het
Cmtm3 T C 8: 104,343,833 F75L probably damaging Het
Cops4 T A 5: 100,518,539 D21E possibly damaging Het
Dach1 G T 14: 97,969,959 A318E probably damaging Het
Ddx27 A G 2: 167,027,860 probably benign Het
Disp2 A G 2: 118,787,575 T201A probably benign Het
Dnah2 G T 11: 69,516,036 D214E possibly damaging Het
Dnah7b G T 1: 46,233,689 G2326C probably benign Het
Dusp5 T C 19: 53,541,234 F356S probably damaging Het
Duxf3 C A 10: 58,231,093 S528I probably damaging Het
Ell T A 8: 70,539,789 V28E probably damaging Het
Evi5 C T 5: 107,815,678 D344N probably benign Het
Fv1 G T 4: 147,870,089 V371L possibly damaging Het
Gemin5 A G 11: 58,141,586 probably null Het
Glce A T 9: 62,060,305 Y521* probably null Het
Grn T A 11: 102,436,244 L556Q possibly damaging Het
Icam1 C A 9: 21,027,886 Y518* probably null Het
Jag2 A T 12: 112,908,922 S1237R possibly damaging Het
Macf1 A T 4: 123,527,458 M1K probably null Het
Nbea T C 3: 56,019,424 E786G probably damaging Het
Nr4a2 A G 2: 57,111,865 M192T probably damaging Het
Olfr1246 T A 2: 89,591,088 E9V possibly damaging Het
Olfr1396 T C 11: 49,113,052 T225A probably benign Het
Olfr591 T A 7: 103,173,559 H26L probably damaging Het
Olfr860 A T 9: 19,846,616 M1K probably null Het
Pcnx4 A C 12: 72,579,364 N1115H probably damaging Het
Ppargc1b A G 18: 61,309,063 S585P possibly damaging Het
Ppip5k2 C T 1: 97,721,128 S1024N probably damaging Het
Prkar1b C T 5: 139,106,628 E145K probably damaging Het
Psd3 T A 8: 67,908,861 T539S probably benign Het
Rit2 A G 18: 31,316,852 V31A probably damaging Het
Rps6kc1 G A 1: 190,799,466 P780S probably benign Het
Serpina6 G T 12: 103,648,579 T336K possibly damaging Het
Smo A T 6: 29,754,467 Q232L probably benign Het
Stx2 T C 5: 128,991,091 D184G probably damaging Het
Tmprss11d T C 5: 86,338,887 Y48C probably benign Het
Ttn T A 2: 76,754,824 I22042F probably damaging 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
R5111:Capns1 UTSW 7 30192519 missense probably benign
R5323:Capns1 UTSW 7 30187722 missense possibly damaging 0.85
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
R8828:Capns1 UTSW 7 30190538 missense probably damaging 1.00
R9076:Capns1 UTSW 7 30194085 start codon destroyed probably null
R9115:Capns1 UTSW 7 30190553 missense probably benign 0.31
R9526:Capns1 UTSW 7 30192187 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ATACAAGTCTCAGCTGTCCCTG -3'
(R):5'- ACTGGAGATTGAGAAGTCCTGTG -3'

Sequencing Primer
(F):5'- TGCCTAGTGAGCCCAGCATTG -3'
(R):5'- CCTGGTCTACAAAGTGAGTGC -3'
Posted On 2016-08-04