Incidental Mutation 'R5696:Capn2'
ID 450639
Institutional Source Beutler Lab
Gene Symbol Capn2
Ensembl Gene ENSMUSG00000026509
Gene Name calpain 2
Synonyms Capa2, Capa-2, m-calpain
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5696 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 182294825-182345173 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 182306165 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 527 (E527G)
Ref Sequence ENSEMBL: ENSMUSP00000068895 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068505]
AlphaFold O08529
Predicted Effect possibly damaging
Transcript: ENSMUST00000068505
AA Change: E527G

PolyPhen 2 Score 0.788 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000068895
Gene: ENSMUSG00000026509
AA Change: E527G

DomainStartEndE-ValueType
CysPc 27 352 1.62e-186 SMART
calpain_III 355 510 3.47e-90 SMART
low complexity region 513 532 N/A INTRINSIC
EFh 576 604 5.86e0 SMART
EFh 606 634 3.21e0 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194940
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194961
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.6%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The calpains, calcium-activated neutral proteases, are nonlysosomal, intracellular cysteine proteases. The mammalian calpains include ubiquitous, stomach-specific, and muscle-specific proteins. The ubiquitous enzymes consist of heterodimers with distinct large, catalytic subunits associated with a common small, regulatory subunit. This gene encodes the large subunit of the ubiquitous enzyme, calpain 2. Multiple heterogeneous transcriptional start sites in the 5' UTR have been reported. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]
PHENOTYPE: Homozygous inactivation of this gene leads to complete prenatal lethality. Mice homozygous for one null allele display placental dysfunction, thin ventricular walls, and peripheral vessel failure. [provided by MGI curators]
Allele List at MGI

All alleles(1) : Targeted, knock-out(1)

Other mutations in this stock
Total: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam8 G A 7: 139,569,159 (GRCm39) R186W probably benign Het
Afg3l2 A G 18: 67,540,529 (GRCm39) I660T probably damaging Het
Amtn T A 5: 88,532,944 (GRCm39) Y186* probably null Het
Atosa A G 9: 74,917,399 (GRCm39) E666G probably benign Het
Atrip A G 9: 108,894,569 (GRCm39) S453P possibly damaging Het
Bahcc1 T C 11: 120,164,813 (GRCm39) L840P probably damaging Het
Caprin2 A T 6: 148,779,316 (GRCm39) Y164N possibly damaging Het
Ccnh T A 13: 85,344,446 (GRCm39) probably null Het
Cdon G T 9: 35,403,162 (GRCm39) V1091F possibly damaging Het
Ceacam14 A G 7: 17,548,267 (GRCm39) Y119C probably damaging Het
Ces2h A G 8: 105,745,611 (GRCm39) K445E possibly damaging Het
Cfap46 A G 7: 139,191,947 (GRCm39) S2357P probably damaging Het
Commd4 A T 9: 57,063,499 (GRCm39) S86R possibly damaging Het
Cpsf6 A T 10: 117,196,934 (GRCm39) probably benign Het
Dag1 A T 9: 108,086,646 (GRCm39) V165E probably benign Het
Dmxl1 A T 18: 50,065,008 (GRCm39) K2618* probably null Het
Dnah17 A G 11: 117,991,882 (GRCm39) Y1229H probably benign Het
Endov T A 11: 119,382,625 (GRCm39) L24Q probably damaging Het
Fap C T 2: 62,332,803 (GRCm39) V717M probably damaging Het
Fbxl2 A G 9: 113,815,546 (GRCm39) L239P probably damaging Het
Fbxl5 A T 5: 43,916,182 (GRCm39) V367D possibly damaging Het
Fkbp10 G T 11: 100,314,352 (GRCm39) W384L probably damaging Het
Gbp8 C T 5: 105,166,682 (GRCm39) V216I possibly damaging Het
Gclm G A 3: 122,059,936 (GRCm39) A239T probably benign Het
Gm11569 C T 11: 99,689,556 (GRCm39) probably benign Het
Gnas C A 2: 174,141,468 (GRCm39) probably benign Het
Grb10 T A 11: 11,883,566 (GRCm39) N508I probably benign Het
Gykl1 T G 18: 52,827,267 (GRCm39) I158M probably benign Het
Ide G A 19: 37,295,420 (GRCm39) T214M unknown Het
Il12rb2 T A 6: 67,272,262 (GRCm39) Q341H possibly damaging Het
Ints1 T C 5: 139,740,744 (GRCm39) E1946G probably benign Het
Kdelr3 T C 15: 79,410,100 (GRCm39) probably null Het
Kif1b A C 4: 149,358,306 (GRCm39) probably null Het
Kri1 A G 9: 21,191,533 (GRCm39) I320T probably damaging Het
Krt9 TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC 11: 100,079,903 (GRCm39) probably benign Het
Lin9 T C 1: 180,486,646 (GRCm39) S111P probably benign Het
Lpcat2b C A 5: 107,580,773 (GRCm39) P34Q probably damaging Het
Ltk T A 2: 119,590,080 (GRCm39) T49S probably benign Het
Map3k9 A T 12: 81,780,896 (GRCm39) H421Q probably benign Het
Mapkbp1 T A 2: 119,852,201 (GRCm39) probably null Het
Mcm4 A G 16: 15,443,434 (GRCm39) S830P probably damaging Het
Nek10 T A 14: 14,860,736 (GRCm38) probably null Het
Nlrp9b A T 7: 19,758,417 (GRCm39) R551S probably benign Het
Nol4l T C 2: 153,260,026 (GRCm39) T143A probably damaging Het
Or1r1 T C 11: 73,875,362 (GRCm39) H24R possibly damaging Het
Or51g1 T A 7: 102,633,748 (GRCm39) T208S probably benign Het
Or6z5 T C 7: 6,477,742 (GRCm39) probably null Het
Or7a39 A T 10: 78,715,919 (GRCm39) R304S probably benign Het
Pde4dip G T 3: 97,616,806 (GRCm39) A1812D probably damaging Het
Plekhb1 C A 7: 100,305,960 (GRCm39) G26C probably damaging Het
Polr1a T A 6: 71,906,410 (GRCm39) F409I probably benign Het
Ptpn13 T A 5: 103,702,625 (GRCm39) M1197K probably benign Het
Qrich2 T C 11: 116,335,828 (GRCm39) I2114V probably damaging Het
Rbm27 T C 18: 42,450,731 (GRCm39) Y449H probably damaging Het
Rp1l1 A G 14: 64,267,195 (GRCm39) D927G probably damaging Het
Secisbp2 C A 13: 51,833,857 (GRCm39) Q666K probably damaging Het
Slc45a2 T C 15: 11,001,219 (GRCm39) I106T probably damaging Het
Slx4 G T 16: 3,797,831 (GRCm39) Q1518K probably damaging Het
Smim10l1 T C 6: 133,082,489 (GRCm39) F12S probably damaging Het
Son T C 16: 91,468,301 (GRCm39) V306A possibly damaging Het
Stab1 A G 14: 30,882,178 (GRCm39) S506P probably benign Het
Syne2 A C 12: 76,040,919 (GRCm39) D3859A probably benign Het
Tab1 T A 15: 80,032,930 (GRCm39) Y71* probably null Het
Tarbp1 A C 8: 127,174,079 (GRCm39) M909R probably damaging Het
Tex15 T G 8: 34,063,220 (GRCm39) S1157R probably benign Het
Tnni3 G A 7: 4,523,453 (GRCm39) T120I probably benign Het
Ttn T C 2: 76,747,888 (GRCm39) E4387G probably benign Het
Ugt3a1 G A 15: 9,361,534 (GRCm39) silent Het
Unc5d T C 8: 29,156,870 (GRCm39) I783V probably benign Het
Usp40 T C 1: 87,923,474 (GRCm39) T266A probably benign Het
Vmn2r59 C T 7: 41,695,468 (GRCm39) V315I probably benign Het
Zbtb48 G T 4: 152,105,067 (GRCm39) H532N probably damaging Het
Zfp1005 C T 2: 150,111,394 (GRCm39) H695Y possibly damaging Het
Other mutations in Capn2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02049:Capn2 APN 1 182,301,519 (GRCm39) splice site probably benign
IGL02589:Capn2 APN 1 182,311,913 (GRCm39) missense probably damaging 1.00
IGL02679:Capn2 APN 1 182,300,149 (GRCm39) missense probably benign
IGL03207:Capn2 APN 1 182,316,578 (GRCm39) missense possibly damaging 0.92
E7848:Capn2 UTSW 1 182,314,159 (GRCm39) missense possibly damaging 0.67
R0070:Capn2 UTSW 1 182,301,434 (GRCm39) splice site probably benign
R0070:Capn2 UTSW 1 182,301,434 (GRCm39) splice site probably benign
R0540:Capn2 UTSW 1 182,319,749 (GRCm39) nonsense probably null
R0571:Capn2 UTSW 1 182,298,325 (GRCm39) missense probably benign 0.01
R1620:Capn2 UTSW 1 182,344,702 (GRCm39) missense probably damaging 1.00
R1818:Capn2 UTSW 1 182,300,162 (GRCm39) missense probably benign 0.00
R1819:Capn2 UTSW 1 182,300,162 (GRCm39) missense probably benign 0.00
R1822:Capn2 UTSW 1 182,300,525 (GRCm39) missense possibly damaging 0.95
R1880:Capn2 UTSW 1 182,316,581 (GRCm39) missense probably damaging 1.00
R2174:Capn2 UTSW 1 182,307,290 (GRCm39) missense probably benign 0.22
R2391:Capn2 UTSW 1 182,306,174 (GRCm39) missense probably benign 0.01
R2860:Capn2 UTSW 1 182,300,485 (GRCm39) splice site probably benign
R2861:Capn2 UTSW 1 182,300,485 (GRCm39) splice site probably benign
R2878:Capn2 UTSW 1 182,344,798 (GRCm39) missense probably benign 0.00
R3052:Capn2 UTSW 1 182,315,337 (GRCm39) missense probably benign 0.06
R4463:Capn2 UTSW 1 182,307,329 (GRCm39) intron probably benign
R4669:Capn2 UTSW 1 182,298,345 (GRCm39) missense probably benign 0.00
R5077:Capn2 UTSW 1 182,300,138 (GRCm39) missense possibly damaging 0.71
R5397:Capn2 UTSW 1 182,298,271 (GRCm39) missense probably damaging 1.00
R6777:Capn2 UTSW 1 182,297,742 (GRCm39) critical splice donor site probably null
R6800:Capn2 UTSW 1 182,309,045 (GRCm39) missense probably damaging 0.99
R7741:Capn2 UTSW 1 182,307,288 (GRCm39) nonsense probably null
R7814:Capn2 UTSW 1 182,319,711 (GRCm39) missense probably damaging 1.00
R7995:Capn2 UTSW 1 182,306,111 (GRCm39) critical splice donor site probably null
R8223:Capn2 UTSW 1 182,310,099 (GRCm39) critical splice donor site probably null
R8446:Capn2 UTSW 1 182,311,796 (GRCm39) missense possibly damaging 0.90
R8496:Capn2 UTSW 1 182,304,840 (GRCm39) missense probably benign 0.04
R9623:Capn2 UTSW 1 182,344,795 (GRCm39) missense probably benign 0.05
Predicted Primers PCR Primer
(F):5'- AGTGACGGGGACAATTCTTC -3'
(R):5'- CCTTTCATGGGCTTTAGCTAAAAC -3'

Sequencing Primer
(F):5'- TGACGGGGACAATTCTTCAGCTC -3'
(R):5'- GTCTAAGGGACAGGAAGACT -3'
Posted On 2017-01-03