Incidental Mutation 'IGL02679:Capn2'
ID 303288
Institutional Source Australian Phenomics Network (link to record)
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 # IGL02679
Quality Score
Status
Chromosome 1
Chromosomal Location 182294825-182345173 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 182300149 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 614 (I614F)
Ref Sequence ENSEMBL: ENSMUSP00000068895 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068505]
AlphaFold O08529
Predicted Effect probably benign
Transcript: ENSMUST00000068505
AA Change: I614F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000068895
Gene: ENSMUSG00000026509
AA Change: I614F

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
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930442H23Rik T A 10: 81,018,813 (GRCm39) probably benign Het
Adam5 A T 8: 25,296,542 (GRCm39) Y302N probably damaging Het
Ankrd34c A T 9: 89,612,132 (GRCm39) Y70N probably damaging Het
Asph G A 4: 9,601,349 (GRCm39) P190S possibly damaging Het
Atp6v1h T C 1: 5,194,525 (GRCm39) C235R probably damaging Het
Brwd1 A G 16: 95,804,023 (GRCm39) L2049P probably benign Het
Ccdc126 T A 6: 49,310,995 (GRCm39) M1K probably null Het
Cdh9 T C 15: 16,832,316 (GRCm39) I401T probably damaging Het
Cep57l1 T C 10: 41,605,382 (GRCm39) E121G probably damaging Het
Cfap46 A G 7: 139,194,386 (GRCm39) I2276T probably damaging Het
Cnnm3 T C 1: 36,559,239 (GRCm39) S490P probably benign Het
D430041D05Rik C T 2: 104,060,650 (GRCm39) V731I possibly damaging Het
Dynlt2b T C 16: 32,244,125 (GRCm39) V107A possibly damaging Het
Fgf3 C A 7: 144,394,487 (GRCm39) N100K probably damaging Het
Gas7 G A 11: 67,566,553 (GRCm39) probably null Het
Gfm1 C T 3: 67,382,100 (GRCm39) P725S possibly damaging Het
Gimap4 T A 6: 48,667,429 (GRCm39) C61* probably null Het
Greb1 C T 12: 16,758,724 (GRCm39) R664Q probably damaging Het
Kpnb1 T A 11: 97,068,086 (GRCm39) I295F possibly damaging Het
Lamc3 A G 2: 31,835,410 (GRCm39) E1577G probably benign Het
Lrrk1 C T 7: 65,924,620 (GRCm39) V235M probably damaging Het
Meak7 A T 8: 120,499,149 (GRCm39) D114E probably benign Het
Mipol1 T A 12: 57,352,829 (GRCm39) V56E possibly damaging Het
Mycbp2 T C 14: 103,442,621 (GRCm39) I1927V probably benign Het
Ncaph A T 2: 126,966,784 (GRCm39) N223K possibly damaging Het
Nipbl A G 15: 8,325,037 (GRCm39) M2542T probably benign Het
Nolc1 C A 19: 46,071,468 (GRCm39) probably benign Het
Or10j5 G A 1: 172,784,743 (GRCm39) C127Y probably damaging Het
Or51h1 A G 7: 102,308,384 (GRCm39) M119V possibly damaging Het
Pkhd1l1 T C 15: 44,393,441 (GRCm39) probably null Het
Ppat A T 5: 77,067,316 (GRCm39) C306S probably benign Het
Ptpn13 A T 5: 103,717,320 (GRCm39) M1821L possibly damaging Het
Rabl3 C T 16: 37,362,287 (GRCm39) S42L probably damaging Het
Rbm12 C T 2: 155,937,480 (GRCm39) probably benign Het
Rfx3 G A 19: 27,827,137 (GRCm39) H150Y possibly damaging Het
Rngtt A G 4: 33,356,098 (GRCm39) M312V possibly damaging Het
Slc10a2 T A 8: 5,148,499 (GRCm39) T149S probably damaging Het
Spata21 T C 4: 140,838,576 (GRCm39) probably benign Het
Stx8 G T 11: 67,860,598 (GRCm39) W6C probably damaging Het
Tcn2 T C 11: 3,877,504 (GRCm39) E48G possibly damaging Het
Tecpr1 A T 5: 144,143,364 (GRCm39) N670K probably benign Het
Tmem255b G A 8: 13,507,055 (GRCm39) M240I probably benign Het
Ubr4 G A 4: 139,186,445 (GRCm39) E651K probably damaging Het
Ubr5 T C 15: 38,002,558 (GRCm39) T1498A probably benign Het
Vmn2r95 G A 17: 18,664,116 (GRCm39) C445Y probably damaging Het
Zfp429 T A 13: 67,547,855 (GRCm39) probably benign Het
Zfp804b T G 5: 6,821,392 (GRCm39) D557A 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
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
R5696:Capn2 UTSW 1 182,306,165 (GRCm39) missense possibly damaging 0.79
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
Posted On 2015-04-16