Incidental Mutation 'R0578:Capns1'
ID 56311
Institutional Source Beutler Lab
Gene Symbol Capns1
Ensembl Gene ENSMUSG00000001794
Gene Name calpain, small subunit 1
Synonyms D7Ertd146e, Capa4, Capn4, Capa-4
MMRRC Submission 038768-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0578 (G1)
Quality Score 101
Status Not validated
Chromosome 7
Chromosomal Location 29886361-29898236 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) A to T at 29893453 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000103831 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001845] [ENSMUST00000108196] [ENSMUST00000126116]
AlphaFold no structure available at present
Predicted Effect unknown
Transcript: ENSMUST00000001845
AA Change: L20Q
SMART Domains Protein: ENSMUSP00000001845
Gene: ENSMUSG00000001794
AA Change: L20Q

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
SMART Domains Protein: ENSMUSP00000103831
Gene: ENSMUSG00000001794

DomainStartEndE-ValueType
EFh 75 103 3.93e0 SMART
EFh 105 133 1.42e1 SMART
EFh 170 197 6.09e1 SMART
Predicted Effect unknown
Transcript: ENSMUST00000126116
AA Change: L20Q
SMART Domains Protein: ENSMUSP00000117951
Gene: ENSMUSG00000001794
AA Change: L20Q

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: ENSMUST00000181153
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148973
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208688
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207082
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.5%
  • 20x: 95.0%
Validation Efficiency 100% (53/53)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930407I10Rik A G 15: 81,943,556 (GRCm39) Y56C possibly damaging Het
Abca5 A T 11: 110,167,315 (GRCm39) C1500* probably null Het
Acr C G 15: 89,453,678 (GRCm39) H72Q probably damaging Het
Adam18 T C 8: 25,131,863 (GRCm39) D416G possibly damaging Het
Afap1l2 T A 19: 56,904,214 (GRCm39) Y691F probably benign Het
Akna A G 4: 63,289,147 (GRCm39) S1259P probably benign Het
Atad2 G A 15: 57,968,964 (GRCm39) T525I probably damaging Het
Atp2a1 T G 7: 126,049,315 (GRCm39) M576L probably benign Het
B4galt6 T C 18: 20,861,013 (GRCm39) probably benign Het
Best3 A G 10: 116,844,904 (GRCm39) D353G probably benign Het
Btg3 A T 16: 78,161,834 (GRCm39) D125E probably benign Het
Cabin1 A T 10: 75,549,444 (GRCm39) D1320E probably damaging Het
Cachd1 A C 4: 100,852,039 (GRCm39) probably benign Het
Cad T C 5: 31,216,120 (GRCm39) V151A probably benign Het
Catsperg2 T A 7: 29,404,116 (GRCm39) T860S possibly damaging Het
Ccdc61 T C 7: 18,637,400 (GRCm39) T76A probably benign Het
Cdipt T A 7: 126,578,702 (GRCm39) probably null Het
Cyp2d12 G A 15: 82,440,584 (GRCm39) probably benign Het
Dennd4c C A 4: 86,730,659 (GRCm39) P852Q probably damaging Het
Dsg2 G A 18: 20,727,291 (GRCm39) V613I probably benign Het
Dusp16 G C 6: 134,695,284 (GRCm39) L516V probably damaging Het
Eif2ak4 T G 2: 118,305,472 (GRCm39) probably benign Het
Faf2 C T 13: 54,769,658 (GRCm39) A2V possibly damaging Het
Gas2l3 A G 10: 89,252,937 (GRCm39) I236T probably damaging Het
Gm6605 C A 7: 38,147,699 (GRCm39) noncoding transcript Het
Got1 G T 19: 43,504,222 (GRCm39) S66R probably benign Het
Gpr149 T A 3: 62,510,110 (GRCm39) H335L possibly damaging Het
Hadhb A G 5: 30,383,804 (GRCm39) I342M probably benign Het
Helz T A 11: 107,577,226 (GRCm39) V1859D unknown Het
Htr1a T A 13: 105,581,595 (GRCm39) N278K probably damaging Het
Inppl1 T C 7: 101,480,795 (GRCm39) E355G probably damaging Het
Isl2 A G 9: 55,452,319 (GRCm39) Y297C probably damaging Het
Kat7 T C 11: 95,182,350 (GRCm39) H250R probably benign Het
Klhl30 A T 1: 91,282,074 (GRCm39) D225V probably benign Het
Mtch2 T C 2: 90,683,174 (GRCm39) probably benign Het
Muc4 C A 16: 32,755,690 (GRCm38) probably benign Het
Ncoa7 A C 10: 30,577,913 (GRCm39) probably null Het
Nuf2 T A 1: 169,338,118 (GRCm39) probably benign Het
Or5ak24 T C 2: 85,261,017 (GRCm39) D52G probably benign Het
Or6c8 A G 10: 128,915,062 (GRCm39) Y257H probably damaging Het
Pced1a T A 2: 130,261,763 (GRCm39) S297C probably damaging Het
Pi15 A T 1: 17,673,073 (GRCm39) K91* probably null Het
Pla2g4e C T 2: 120,075,162 (GRCm39) probably benign Het
Plce1 A T 19: 38,766,383 (GRCm39) H2136L probably damaging Het
Plec A G 15: 76,061,084 (GRCm39) L2973P probably damaging Het
Poln A G 5: 34,171,682 (GRCm39) I695T probably damaging Het
Pramel32 T A 4: 88,552,376 (GRCm39) I2F probably benign Het
R3hdm1 C T 1: 128,159,174 (GRCm39) Q950* probably null Het
Rxra C T 2: 27,649,582 (GRCm39) A429V probably damaging Het
Scnn1a G A 6: 125,299,207 (GRCm39) G96S probably damaging Het
Senp5 T A 16: 31,808,163 (GRCm39) T337S possibly damaging Het
Smg9 A G 7: 24,114,468 (GRCm39) D269G probably damaging Het
Srsf11 C T 3: 157,717,704 (GRCm39) probably benign Het
Tmtc1 C T 6: 148,256,716 (GRCm39) probably benign Het
Vmn2r19 T C 6: 123,312,931 (GRCm39) V667A probably damaging 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
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
R8828:Capns1 UTSW 7 29,889,963 (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'- AGTGACACCAGCCTCGCTAGAATC -3'
(R):5'- CTCCCCAATCTAGTTGCCGGAAATG -3'

Sequencing Primer
(F):5'- GAATTCTCAGGTCGGACTCTAAG -3'
(R):5'- CTAGTTGCCGGAAATGCTTGC -3'
Posted On 2013-07-11