Incidental Mutation 'R1819:Capn2'
ID 204674
Institutional Source Beutler Lab
Gene Symbol Capn2
Ensembl Gene ENSMUSG00000026509
Gene Name calpain 2
Synonyms Capa2, Capa-2, m-calpain
MMRRC Submission 039847-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1819 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 182294825-182345173 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 182300162 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Asparagine at position 609 (K609N)
Ref Sequence ENSEMBL: ENSMUSP00000068895 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068505]
AlphaFold O08529
Predicted Effect probably benign
Transcript: ENSMUST00000068505
AA Change: K609N

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000068895
Gene: ENSMUSG00000026509
AA Change: K609N

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
Meta Mutation Damage Score 0.0723 question?
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 95.1%
  • 20x: 91.9%
Validation Efficiency 100% (91/91)
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: 89 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b T C 11: 109,871,882 (GRCm39) probably null Het
Abhd17a T C 10: 80,422,470 (GRCm39) T71A probably benign Het
Acad11 G A 9: 103,991,738 (GRCm39) probably null Het
Adgrf1 C A 17: 43,620,924 (GRCm39) T387K probably benign Het
Afdn A G 17: 14,071,110 (GRCm39) T783A probably damaging Het
Akap13 T A 7: 75,258,453 (GRCm39) M359K probably benign Het
Asxl3 A T 18: 22,655,433 (GRCm39) N1148Y probably damaging Het
Atl1 T C 12: 70,010,074 (GRCm39) S547P probably benign Het
Bace1 A T 9: 45,768,460 (GRCm39) T252S possibly damaging Het
BC034090 A G 1: 155,101,575 (GRCm39) S230P possibly damaging Het
Bnc2 A G 4: 84,210,111 (GRCm39) F778L possibly damaging Het
Capn8 T A 1: 182,426,391 (GRCm39) I242N probably damaging Het
Car9 G T 4: 43,512,439 (GRCm39) probably null Het
Ccdc180 A G 4: 45,926,195 (GRCm39) E1135G possibly damaging Het
Ccdc181 C T 1: 164,110,047 (GRCm39) Q385* probably null Het
Cdh10 G T 15: 18,992,051 (GRCm39) G437* probably null Het
Ceacam1 T A 7: 25,163,285 (GRCm39) Q316L possibly damaging Het
Cecr2 A G 6: 120,708,228 (GRCm39) T77A probably damaging Het
Cers4 T A 8: 4,571,232 (GRCm39) M267K probably benign Het
Csmd3 T C 15: 47,617,131 (GRCm39) D1930G possibly damaging Het
Cyp2j11 A T 4: 96,185,976 (GRCm39) V403D probably damaging Het
Cyp4v3 G A 8: 45,768,673 (GRCm39) R296C possibly damaging Het
Ddx59 A G 1: 136,360,245 (GRCm39) I420V probably damaging Het
Dnah5 T A 15: 28,246,546 (GRCm39) L628* probably null Het
Dnah7a A C 1: 53,598,307 (GRCm39) D1409E probably benign Het
Dus2 T A 8: 106,778,480 (GRCm39) W377R probably damaging Het
E330034G19Rik A G 14: 24,348,081 (GRCm39) D111G probably damaging Het
Erich4 C T 7: 25,314,715 (GRCm39) R66Q possibly damaging Het
Fcgbp G T 7: 27,784,708 (GRCm39) R256L probably benign Het
Fdxr A T 11: 115,166,930 (GRCm39) F53Y probably damaging Het
Fkbp10 G T 11: 100,306,715 (GRCm39) A36S probably benign Het
Foxo3 A T 10: 42,073,607 (GRCm39) D84E probably benign Het
Gin1 A G 1: 97,712,951 (GRCm39) probably null Het
Gli3 C T 13: 15,900,377 (GRCm39) Q1255* probably null Het
Gm4847 T A 1: 166,465,788 (GRCm39) H267L probably damaging Het
Gpr171 T C 3: 59,005,341 (GRCm39) I145V probably benign Het
Gpr68 T A 12: 100,844,662 (GRCm39) H294L possibly damaging Het
Gys2 T C 6: 142,406,912 (GRCm39) E148G probably damaging Het
Heatr5b T C 17: 79,098,940 (GRCm39) D1320G probably damaging Het
Ifnlr1 G T 4: 135,413,834 (GRCm39) probably benign Het
Ift88 G A 14: 57,692,976 (GRCm39) E392K probably damaging Het
Igsf9b T A 9: 27,222,889 (GRCm39) S97T probably damaging Het
Il18rap A G 1: 40,570,687 (GRCm39) I210V probably benign Het
Kcnj11 C T 7: 45,748,580 (GRCm39) G248S probably benign Het
Kif28 T C 1: 179,533,319 (GRCm39) K541E possibly damaging Het
Lilrb4a A G 10: 51,372,124 (GRCm39) Y205C probably damaging Het
Lima1 T A 15: 99,717,817 (GRCm39) H63L probably benign Het
Lonrf3 A G X: 35,622,361 (GRCm39) I687V probably damaging Het
Lrba A G 3: 86,449,941 (GRCm39) T2099A possibly damaging Het
Morn5 C T 2: 35,942,987 (GRCm39) T29M probably damaging Het
Neurl1b G A 17: 26,657,674 (GRCm39) R22H probably benign Het
Nr2e3 T C 9: 59,850,720 (GRCm39) I380V probably damaging Het
Oas1c G A 5: 120,946,800 (GRCm39) A10V possibly damaging Het
Or1e35 T C 11: 73,797,505 (GRCm39) E271G probably benign Het
Or52e8 C T 7: 104,624,605 (GRCm39) V196I probably benign Het
P3h3 T C 6: 124,831,895 (GRCm39) T297A probably benign Het
Pdpk1 T C 17: 24,329,878 (GRCm39) K53E probably damaging Het
Plec C T 15: 76,064,106 (GRCm39) R2056Q probably damaging Het
Plxna2 T A 1: 194,472,494 (GRCm39) N1079K probably benign Het
Prr12 G C 7: 44,698,121 (GRCm39) probably benign Het
Psip1 A G 4: 83,376,400 (GRCm39) S480P probably benign Het
Ptpre A G 7: 135,270,722 (GRCm39) probably benign Het
Pvalb A C 15: 78,086,784 (GRCm39) V44G probably damaging Het
Rab3c T G 13: 110,220,669 (GRCm39) Q164P possibly damaging Het
Rubcn T C 16: 32,647,284 (GRCm39) K703R possibly damaging Het
Setd7 T G 3: 51,450,060 (GRCm39) H122P probably benign Het
Slc26a8 A T 17: 28,903,808 (GRCm39) F19I probably benign Het
Slc6a14 A G X: 21,607,286 (GRCm39) D625G probably benign Het
Snx6 C T 12: 54,830,259 (GRCm39) V67I possibly damaging Het
Syngr3 A G 17: 24,906,696 (GRCm39) F40L possibly damaging Het
Syt8 G A 7: 141,991,971 (GRCm39) G21R possibly damaging Het
Tagln A G 9: 45,842,138 (GRCm39) F152L probably benign Het
Tcf12 G A 9: 72,016,999 (GRCm39) T36M probably damaging Het
Tdrd6 C T 17: 43,937,442 (GRCm39) S1202N probably benign Het
Tekt2 T C 4: 126,217,529 (GRCm39) K179E probably damaging Het
Tekt4 G T 17: 25,692,785 (GRCm39) probably null Het
Tmprss5 G T 9: 49,018,464 (GRCm39) R98L probably benign Het
Tns1 G T 1: 73,955,635 (GRCm39) probably benign Het
Tpcn1 A C 5: 120,674,292 (GRCm39) probably null Het
Ttc6 T C 12: 57,741,286 (GRCm39) probably null Het
Ttf1 A G 2: 28,964,796 (GRCm39) N706S possibly damaging Het
Washc4 C T 10: 83,386,748 (GRCm39) T124I probably benign Het
Wdr17 A T 8: 55,143,159 (GRCm39) S140T probably benign Het
Wdr19 A T 5: 65,370,234 (GRCm39) I123F possibly damaging Het
Zer1 C T 2: 30,000,230 (GRCm39) A317T probably benign Het
Zfp474 A G 18: 52,771,872 (GRCm39) D175G probably damaging Het
Zfp598 T C 17: 24,900,104 (GRCm39) probably benign Het
Zfp646 G A 7: 127,482,292 (GRCm39) G1490S probably benign Het
Zranb3 A T 1: 127,945,293 (GRCm39) probably null 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
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
Predicted Primers PCR Primer
(F):5'- TGCTTGTTCTACCAGGCTGC -3'
(R):5'- CAAGTGACATAGCCTTGTCCTTTC -3'

Sequencing Primer
(F):5'- CATGGTAGGTAAGAGCTCTACCTC -3'
(R):5'- TCCTATGCCTGATAAGTGACCAG -3'
Posted On 2014-06-23