Incidental Mutation 'R9115:Capns1'
ID 692472
Institutional Source Beutler Lab
Gene Symbol Capns1
Ensembl Gene ENSMUSG00000001794
Gene Name calpain, small subunit 1
Synonyms D7Ertd146e, Capa4, Capn4, Capa-4
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9115 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 29886361-29898236 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 29889978 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Lysine at position 177 (I177K)
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 benign
Transcript: ENSMUST00000001845
AA Change: I177K

PolyPhen 2 Score 0.311 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000001845
Gene: ENSMUSG00000001794
AA Change: I177K

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
SMART Domains Protein: ENSMUSP00000103831
Gene: ENSMUSG00000001794
AA Change: I109K

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: I177K

PolyPhen 2 Score 0.311 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000117951
Gene: ENSMUSG00000001794
AA Change: I177K

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: 99.5%
  • 20x: 98.1%
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aire T C 10: 77,879,309 (GRCm39) T17A Het
Ankrd31 T C 13: 96,940,773 (GRCm39) probably null Het
Brwd1 C T 16: 95,848,314 (GRCm39) R569K probably damaging Het
Ccdc182 A G 11: 88,185,343 (GRCm39) N141S probably benign Het
Celsr1 A G 15: 85,803,217 (GRCm39) W2441R probably damaging Het
Cftr A T 6: 18,235,310 (GRCm39) R516S probably damaging Het
Ckap4 C T 10: 84,363,507 (GRCm39) V519M probably damaging Het
Col27a1 C T 4: 63,231,974 (GRCm39) P1277L unknown Het
Cspg4 T C 9: 56,797,736 (GRCm39) L1400P probably damaging Het
Cyp4f39 T A 17: 32,711,296 (GRCm39) F481Y probably damaging Het
Dmxl2 T C 9: 54,309,011 (GRCm39) I1913M probably benign Het
Dock10 T C 1: 80,490,156 (GRCm39) T1989A probably damaging Het
Eef2 CC CCC 10: 81,014,603 (GRCm39) probably null Het
Fcgbpl1 G A 7: 27,853,754 (GRCm39) V1573I possibly damaging Het
Fshr T A 17: 89,292,948 (GRCm39) I577F probably damaging Het
Gfm2 T C 13: 97,301,707 (GRCm39) probably null Het
Gm12695 T C 4: 96,657,846 (GRCm39) N108D possibly damaging Het
Gm3285 T A 10: 77,698,007 (GRCm39) L52H unknown Het
Gm5930 A T 14: 44,575,006 (GRCm39) L95* probably null Het
Hjurp CTCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCT C 1: 88,193,999 (GRCm39) probably benign Het
Klhl26 A G 8: 70,904,896 (GRCm39) M338T possibly damaging Het
Lrrc4c T C 2: 97,459,686 (GRCm39) I104T probably benign Het
Mapk10 A T 5: 103,186,532 (GRCm39) V60E Het
Mfsd4b3-ps T A 10: 39,824,012 (GRCm39) K83* probably null Het
Muc15 C T 2: 110,562,089 (GRCm39) T175I probably damaging Het
Nmu G A 5: 76,511,572 (GRCm39) probably benign Het
Nol4l G T 2: 153,253,638 (GRCm39) T645K probably damaging Het
Nr2f1 A G 13: 78,337,869 (GRCm39) S416P probably benign Het
Ntn4 A C 10: 93,569,675 (GRCm39) I463L probably benign Het
Nxt2 C T X: 141,020,747 (GRCm39) A118V possibly damaging Het
Or12k7 T C 2: 36,959,052 (GRCm39) L245P probably damaging Het
Or52h2 C A 7: 103,838,931 (GRCm39) C161F possibly damaging Het
Or8h8 T A 2: 86,752,998 (GRCm39) R293W probably damaging Het
Pccb T A 9: 100,869,908 (GRCm39) N341I probably damaging Het
Pgm3 G A 9: 86,447,662 (GRCm39) L194F probably damaging Het
Prkra T A 2: 76,478,193 (GRCm39) H3L probably benign Het
Rbm12 TATTGCGGGACCGGGCATTGCGGGACCGGGCATTGCGGGACCGGGCATTGCGGGACCGGGCATTGCGGGACCGGGCATTGCGGGACCAGGCATTGCGGGACC TATTGCGGGACCGGGCATTGCGGGACCGGGCATTGCGGGACCGGGCATTGCGGGACCAGGCATTGCGGGACC 2: 155,938,030 (GRCm39) probably benign Het
Ryr1 T A 7: 28,803,989 (GRCm39) K600* probably null Het
Sema4d A T 13: 51,877,596 (GRCm39) S79T probably benign Het
Slc37a1 T C 17: 31,534,486 (GRCm39) C53R probably damaging Het
Sptbn1 A G 11: 30,087,526 (GRCm39) I971T probably damaging Het
Tcstv1a T A 13: 120,355,453 (GRCm39) I60F possibly damaging Het
Tdrkh G T 3: 94,335,598 (GRCm39) C397F possibly damaging Het
Tecrl A T 5: 83,427,906 (GRCm39) M314K possibly damaging Het
Ttn T C 2: 76,780,496 (GRCm39) K1131R unknown Het
Uimc1 A T 13: 55,198,584 (GRCm39) Y531N possibly damaging Het
Usp5 A G 6: 124,803,384 (GRCm39) S39P probably damaging Het
Virma A G 4: 11,498,744 (GRCm39) T62A probably benign Het
Vmn2r85 A G 10: 130,254,153 (GRCm39) Y844H probably benign Het
Yars1 T C 4: 129,109,143 (GRCm39) V458A probably benign Het
Zfp235 G A 7: 23,841,453 (GRCm39) C624Y probably damaging Het
Zfp712 A T 13: 67,189,241 (GRCm39) S429T probably damaging Het
Zmynd11 A T 13: 9,743,495 (GRCm39) D307E 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
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
R9526:Capns1 UTSW 7 29,891,612 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GATGCTCATTCAGGTGGAATCC -3'
(R):5'- TTGTTAGAGCGACACCACAG -3'

Sequencing Primer
(F):5'- ACTCACTTTGTAGACCAGGCTGG -3'
(R):5'- GACACCACAGGCAAGCTGG -3'
Posted On 2021-12-30