Incidental Mutation 'R7611:Capns1'
ID 588599
Institutional Source Beutler Lab
Gene Symbol Capns1
Ensembl Gene ENSMUSG00000001794
Gene Name calpain, small subunit 1
Synonyms D7Ertd146e, Capa4, Capn4, Capa-4
MMRRC Submission 045715-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7611 (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 29889539 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Valine at position 220 (E220V)
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: E220V

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000001845
Gene: ENSMUSG00000001794
AA Change: E220V

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 possibly damaging
Transcript: ENSMUST00000108196
AA Change: E152V

PolyPhen 2 Score 0.735 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000103831
Gene: ENSMUSG00000001794
AA Change: E152V

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: E220V

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000117951
Gene: ENSMUSG00000001794
AA Change: E220V

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: 100.0%
  • 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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acta2 G A 19: 34,229,931 (GRCm39) T8I probably benign Het
Adcy8 C T 15: 64,792,882 (GRCm39) G25S probably benign Het
Ahnak2 G T 12: 112,751,749 (GRCm39) D35E Het
Birc6 T C 17: 74,969,713 (GRCm39) M4261T probably damaging Het
Caln1 T G 5: 130,534,918 (GRCm39) F45V probably damaging Het
Camta2 A T 11: 70,572,372 (GRCm39) I313N possibly damaging Het
Carmil1 C A 13: 24,197,315 (GRCm39) V1374L probably benign Het
Casp2 T G 6: 42,250,972 (GRCm39) L290R possibly damaging Het
Cdkn2b C A 4: 89,228,980 (GRCm39) V19L probably benign Het
Ces1c T C 8: 93,851,139 (GRCm39) N162D probably benign Het
Cfap96 A G 8: 46,423,488 (GRCm39) Y75H probably damaging Het
Chd9 T C 8: 91,763,017 (GRCm39) S2281P probably damaging Het
Chst13 T C 6: 90,285,999 (GRCm39) D321G probably damaging Het
Ckap2l G T 2: 129,127,600 (GRCm39) P193T possibly damaging Het
Clca4b T A 3: 144,627,757 (GRCm39) T405S probably benign Het
Cmah T C 13: 24,619,630 (GRCm39) V265A probably benign Het
Cyp3a11 A T 5: 145,797,191 (GRCm39) M396K probably benign Het
Ddr2 A T 1: 169,825,727 (GRCm39) M291K possibly damaging Het
Ddx43 T A 9: 78,309,635 (GRCm39) I145N probably benign Het
Ephb2 T A 4: 136,388,212 (GRCm39) probably null Het
Fgfr1 A T 8: 26,048,221 (GRCm39) K106* probably null Het
Gpr6 A G 10: 40,946,875 (GRCm39) F236L probably benign Het
Grin2c A G 11: 115,143,511 (GRCm39) S750P probably damaging Het
Hecw2 A G 1: 53,952,459 (GRCm39) S925P probably damaging Het
Hivep3 CGG CG 4: 119,955,108 (GRCm39) 1141 probably null Het
Hmg20b T A 10: 81,185,432 (GRCm39) probably benign Het
Kcnk10 T A 12: 98,484,899 (GRCm39) Y79F probably damaging Het
Lrrc30 A T 17: 67,939,424 (GRCm39) F52Y probably damaging Het
Lrriq1 T C 10: 103,036,432 (GRCm39) K907R possibly damaging Het
Mbd3 T C 10: 80,231,352 (GRCm39) D63G probably damaging Het
Mettl21a C T 1: 64,654,266 (GRCm39) A84T probably benign Het
Mmp19 A G 10: 128,634,857 (GRCm39) D491G probably benign Het
Mug1 A T 6: 121,852,387 (GRCm39) probably null Het
Myh1 A T 11: 67,101,243 (GRCm39) H673L possibly damaging Het
Nlrc5 T C 8: 95,239,276 (GRCm39) probably null Het
Nme9 T A 9: 99,352,843 (GRCm39) S264R probably benign Het
Nup153 T C 13: 46,840,798 (GRCm39) T937A probably benign Het
Obsl1 T C 1: 75,482,024 (GRCm39) E282G probably damaging Het
Or1o3 A G 17: 37,573,745 (GRCm39) V270A probably benign Het
Or2w2 A G 13: 21,758,488 (GRCm39) V46A probably benign Het
Or4l15 C A 14: 50,198,368 (GRCm39) A54S probably benign Het
Or5an10 T A 19: 12,276,242 (GRCm39) M85L probably damaging Het
Or5b99 T A 19: 12,976,431 (GRCm39) I27N possibly damaging Het
Or5m5 T A 2: 85,814,407 (GRCm39) C74* probably null Het
Or8k30 T A 2: 86,339,397 (GRCm39) I198K possibly damaging Het
Pcdhga12 T C 18: 37,901,478 (GRCm39) F770S possibly damaging Het
Pfkp T A 13: 6,655,119 (GRCm39) probably null Het
Prr29 C G 11: 106,267,158 (GRCm39) H58D probably damaging Het
Ptprz1 T A 6: 23,001,219 (GRCm39) M1103K probably benign Het
Rigi T C 4: 40,225,651 (GRCm39) E250G probably damaging Het
Rsph4a C T 10: 33,781,473 (GRCm39) P108S probably benign Het
Setd1b A C 5: 123,290,657 (GRCm39) M875L unknown Het
Slc15a2 A G 16: 36,576,673 (GRCm39) S485P probably benign Het
Smoc1 A G 12: 81,226,444 (GRCm39) D423G probably damaging Het
Spast T A 17: 74,676,198 (GRCm39) V337D probably damaging Het
Spesp1 T C 9: 62,179,987 (GRCm39) K307R possibly damaging Het
Sulf1 A G 1: 12,906,467 (GRCm39) E503G probably benign Het
Susd6 T C 12: 80,921,341 (GRCm39) Y313H probably damaging Het
Them4 A T 3: 94,238,865 (GRCm39) D224V possibly damaging Het
Tpsg1 G T 17: 25,592,184 (GRCm39) G86V probably damaging Het
Tspear A T 10: 77,717,049 (GRCm39) T575S probably benign Het
Usp21 A T 1: 171,113,142 (GRCm39) H211Q probably benign Het
Vmn1r189 T C 13: 22,286,322 (GRCm39) S172G probably benign Het
Vmn2r114 T C 17: 23,515,944 (GRCm39) S516G probably damaging Het
Vmn2r28 T A 7: 5,484,255 (GRCm39) R648S probably benign Het
Vmn2r6 C A 3: 64,472,563 (GRCm39) V53F probably damaging Het
Vmn2r76 A G 7: 85,879,388 (GRCm39) I304T probably benign Het
Vmn2r88 A C 14: 51,651,454 (GRCm39) Y256S Het
Zfhx4 A T 3: 5,468,831 (GRCm39) K3021N probably damaging Het
Zfp647 T C 15: 76,795,988 (GRCm39) H224R probably damaging Het
Zfp865 A G 7: 5,034,130 (GRCm39) E705G 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
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
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'- ACAAGTCTCAGCTGTCCCTG -3'
(R):5'- ACTGGAGATTGAGAAGTCCTGTG -3'

Sequencing Primer
(F):5'- TGCCTAGTGAGCCCAGCATTG -3'
(R):5'- CCTGGTCTACAAAGTGAGTGC -3'
Posted On 2019-10-24