Incidental Mutation 'IGL02049:Capn2'
ID185049
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Capn2
Ensembl Gene ENSMUSG00000026509
Gene Namecalpain 2
SynonymsCapa-2, Capa2, m-calpain
Accession Numbers

Genbank: NM_009794 ; MGI: 88264

Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02049
Quality Score
Status
Chromosome1
Chromosomal Location182467260-182517608 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) A to T at 182473954 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000068895 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068505]
Predicted Effect probably benign
Transcript: ENSMUST00000068505
SMART Domains Protein: ENSMUSP00000068895
Gene: ENSMUSG00000026509

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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930568D16Rik T A 2: 35,364,789 R27S probably benign Het
4930596D02Rik C A 14: 35,811,578 V78L probably benign Het
Abca3 T A 17: 24,376,730 C352* probably null Het
Acat3 T A 17: 12,925,320 Y324F probably benign Het
Adamts8 T C 9: 30,951,354 V285A probably damaging Het
Anpep A G 7: 79,835,181 I652T probably damaging Het
Arhgef6 T A X: 57,275,911 Q320L probably damaging Het
Armh1 A T 4: 117,237,663 I60K probably benign Het
Atp11b T C 3: 35,800,493 V145A probably damaging Het
Cacna1c T C 6: 118,603,919 T1674A probably benign Het
Cfd A G 10: 79,890,942 Y6C probably benign Het
Cps1 A G 1: 67,143,954 K157R possibly damaging Het
Csmd3 T A 15: 48,001,474 R786S possibly damaging Het
Dna2 A T 10: 62,957,036 I277L probably damaging Het
Gm5168 A T X: 26,043,705 D50E probably damaging Het
Grik4 T A 9: 42,543,753 probably benign Het
Iqgap2 A G 13: 95,675,405 probably benign Het
Klk10 A T 7: 43,784,458 probably benign Het
Kng1 A G 16: 23,073,437 Y250C probably damaging Het
Las1l A T X: 95,937,453 M690K probably benign Het
Mug1 T A 6: 121,871,336 M673K probably benign Het
Myh9 T C 15: 77,769,870 H1245R probably benign Het
Oprk1 C T 1: 5,598,844 T171I probably damaging Het
Pgm5 A T 19: 24,824,418 S149T probably benign Het
Pla2g4a T C 1: 149,861,096 N424S probably benign Het
Plec A T 15: 76,178,949 L2334Q probably damaging Het
Pus7l G A 15: 94,540,178 S262F probably damaging Het
Rps24 C A 14: 24,491,755 D3E probably benign Het
Rxfp1 T C 3: 79,650,492 N560D probably damaging Het
Sema3c C T 5: 17,721,925 probably benign Het
Slc47a2 A G 11: 61,342,539 F55S probably damaging Het
Slco1a6 A G 6: 142,101,583 probably benign Het
Taf4b A T 18: 14,830,139 E645D probably benign Het
Tmem161a T A 8: 70,178,974 V158E probably damaging Het
Trav13-2 A G 14: 53,635,147 S27G possibly damaging Het
Trav13-2 A T 14: 53,635,145 Q26L possibly damaging Het
Trav13-2 G T 14: 53,635,146 Q26H probably damaging Het
Ttc26 A G 6: 38,425,132 T520A probably benign Het
Vmn2r108 T A 17: 20,471,346 H305L probably benign Het
Zfp263 A G 16: 3,744,618 I82V probably damaging Het
Other mutations in Capn2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02589:Capn2 APN 1 182484348 missense probably damaging 1.00
IGL02679:Capn2 APN 1 182472584 missense probably benign
IGL03207:Capn2 APN 1 182489013 missense possibly damaging 0.92
E7848:Capn2 UTSW 1 182486594 missense possibly damaging 0.67
R0070:Capn2 UTSW 1 182473869 splice site probably benign
R0070:Capn2 UTSW 1 182473869 splice site probably benign
R0540:Capn2 UTSW 1 182492184 nonsense probably null
R0571:Capn2 UTSW 1 182470760 missense probably benign 0.01
R1620:Capn2 UTSW 1 182517137 missense probably damaging 1.00
R1818:Capn2 UTSW 1 182472597 missense probably benign 0.00
R1819:Capn2 UTSW 1 182472597 missense probably benign 0.00
R1822:Capn2 UTSW 1 182472960 missense possibly damaging 0.95
R1880:Capn2 UTSW 1 182489016 missense probably damaging 1.00
R2174:Capn2 UTSW 1 182479725 missense probably benign 0.22
R2391:Capn2 UTSW 1 182478609 missense probably benign 0.01
R2860:Capn2 UTSW 1 182472920 splice site probably benign
R2861:Capn2 UTSW 1 182472920 splice site probably benign
R2878:Capn2 UTSW 1 182517233 missense probably benign 0.00
R3052:Capn2 UTSW 1 182487772 missense probably benign 0.06
R4463:Capn2 UTSW 1 182479764 intron probably benign
R4669:Capn2 UTSW 1 182470780 missense probably benign 0.00
R5077:Capn2 UTSW 1 182472573 missense possibly damaging 0.71
R5397:Capn2 UTSW 1 182470706 missense probably damaging 1.00
R5696:Capn2 UTSW 1 182478600 missense possibly damaging 0.79
R6777:Capn2 UTSW 1 182470177 critical splice donor site probably null
R6800:Capn2 UTSW 1 182481480 missense probably damaging 0.99
R7741:Capn2 UTSW 1 182479723 nonsense probably null
R7814:Capn2 UTSW 1 182492146 missense probably damaging 1.00
R7995:Capn2 UTSW 1 182478546 critical splice donor site probably null
Posted On2014-05-07