Incidental Mutation 'R6800:Capn2'
ID 533249
Institutional Source Beutler Lab
Gene Symbol Capn2
Ensembl Gene ENSMUSG00000026509
Gene Name calpain 2
Synonyms Capa2, Capa-2, m-calpain
MMRRC Submission 044913-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6800 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 182294825-182345173 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 182309045 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 499 (I499N)
Ref Sequence ENSEMBL: ENSMUSP00000068895 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068505]
AlphaFold O08529
Predicted Effect probably damaging
Transcript: ENSMUST00000068505
AA Change: I499N

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000068895
Gene: ENSMUSG00000026509
AA Change: I499N

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.4%
Validation Efficiency 97% (66/68)
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930486L24Rik G A 13: 60,992,948 (GRCm39) P244S probably damaging Het
9130023H24Rik C A 7: 127,836,742 (GRCm39) probably benign Het
Acoxl A T 2: 127,852,085 (GRCm39) Q129L probably damaging Het
Akna T C 4: 63,316,268 (GRCm39) T32A probably benign Het
Alox15 C T 11: 70,235,645 (GRCm39) probably null Het
Antxrl T C 14: 33,787,864 (GRCm39) S296P probably damaging Het
Arrb2 G T 11: 70,328,142 (GRCm39) G52* probably null Het
Bltp2 T C 11: 78,179,105 (GRCm39) F2091S probably benign Het
Cfhr4 T A 1: 139,629,719 (GRCm39) D683V possibly damaging Het
Cspg4b T A 13: 113,504,686 (GRCm39) D396E probably benign Het
Cubn T A 2: 13,326,066 (GRCm39) I2700F probably damaging Het
Cypt4 A T 9: 24,536,965 (GRCm39) N152Y probably benign Het
Dmxl2 T C 9: 54,316,467 (GRCm39) N1640D probably damaging Het
Dnah7b A T 1: 46,379,377 (GRCm39) N3704Y possibly damaging Het
Dnah9 A G 11: 65,963,565 (GRCm39) probably null Het
Elac2 G A 11: 64,890,265 (GRCm39) probably null Het
Erich3 A T 3: 154,433,029 (GRCm39) probably null Het
Espnl T C 1: 91,270,351 (GRCm39) V386A probably damaging Het
Fbxl6 T A 15: 76,422,898 (GRCm39) probably benign Het
Fdps A C 3: 89,008,068 (GRCm39) F17V probably damaging Het
Gigyf2 T C 1: 87,346,898 (GRCm39) I576T possibly damaging Het
Gm20939 A G 17: 95,184,657 (GRCm39) E435G possibly damaging Het
Hivep1 G A 13: 42,310,852 (GRCm39) V1031I probably damaging Het
Hydin T G 8: 111,324,603 (GRCm39) S4655A probably benign Het
Ifrd1 T A 12: 40,273,157 (GRCm39) probably benign Het
Iqgap1 G T 7: 80,378,729 (GRCm39) T1219K possibly damaging Het
Lmtk3 G A 7: 45,443,233 (GRCm39) E639K possibly damaging Het
Map3k5 A G 10: 20,017,326 (GRCm39) *1373W probably null Het
Mia2 G A 12: 59,235,332 (GRCm39) probably null Het
Micu2 T C 14: 58,156,896 (GRCm39) D313G possibly damaging Het
Mrgpra4 A G 7: 47,631,371 (GRCm39) S77P probably damaging Het
Mrpl51 T C 6: 125,169,367 (GRCm39) V17A probably benign Het
Neurod4 A T 10: 130,106,661 (GRCm39) Y204* probably null Het
Or2n1 A G 17: 38,486,013 (GRCm39) I13V probably benign Het
Or56a42-ps1 A T 7: 104,776,217 (GRCm39) V97E probably benign Het
Or5p67 G A 7: 107,922,460 (GRCm39) T141I probably benign Het
Or6c66b A T 10: 129,377,132 (GRCm39) H242L probably damaging Het
Pate2 T C 9: 35,596,941 (GRCm39) probably benign Het
Pcdhgb8 G A 18: 37,896,580 (GRCm39) R550Q probably benign Het
Phldb3 T C 7: 24,323,577 (GRCm39) L437P possibly damaging Het
Pianp C A 6: 124,978,565 (GRCm39) P257T possibly damaging Het
Rbbp6 T A 7: 122,584,287 (GRCm39) H140Q possibly damaging Het
Rfx2 A G 17: 57,087,804 (GRCm39) I529T probably damaging Het
Rnf113a1 A C X: 36,455,840 (GRCm39) T266P probably benign Het
Rp1l1 T C 14: 64,268,599 (GRCm39) I1395T possibly damaging Het
Rps6ka2 A C 17: 7,519,035 (GRCm39) K186Q probably damaging Het
Rsf1 CGGC CGGCGGCGGGGGC 7: 97,229,139 (GRCm39) probably benign Het
Rtel1 C A 2: 180,964,256 (GRCm39) T85N probably benign Het
Rtn4rl2 T C 2: 84,710,967 (GRCm39) N99S probably damaging Het
Ryr1 C T 7: 28,723,741 (GRCm39) G4106D possibly damaging Het
Scgb2b24 A G 7: 33,437,894 (GRCm39) V71A probably benign Het
Sgip1 A G 4: 102,778,225 (GRCm39) probably benign Het
Slc12a4 G A 8: 106,676,371 (GRCm39) T515I probably damaging Het
Spag1 C T 15: 36,197,895 (GRCm39) R286* probably null Het
Strbp C T 2: 37,515,228 (GRCm39) R266Q probably damaging Het
Strn G T 17: 78,977,787 (GRCm39) probably benign Het
Thnsl2 C A 6: 71,118,264 (GRCm39) V55L probably benign Het
Tmem178b A T 6: 40,231,858 (GRCm39) Q164L unknown Het
Tmprss6 C T 15: 78,324,457 (GRCm39) R786H probably damaging Het
Ttc21a T A 9: 119,770,268 (GRCm39) L113Q possibly damaging Het
Ttc21b T C 2: 66,038,994 (GRCm39) probably null Het
Vmn2r51 T C 7: 9,832,191 (GRCm39) D465G probably damaging Het
Vmp1 A C 11: 86,556,913 (GRCm39) probably null Het
Wdcp T C 12: 4,901,358 (GRCm39) F405L probably damaging Het
Zfhx3 A T 8: 109,676,149 (GRCm39) T2400S probably benign Het
Zfp27 T C 7: 29,593,860 (GRCm39) T702A probably benign Het
Zfp87 T C 13: 74,520,080 (GRCm39) S333G probably benign 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
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
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'- AACTGGACTGCAAGCCACTC -3'
(R):5'- ACCATCAGCTAACAGGGCAG -3'

Sequencing Primer
(F):5'- CCAACTTAAGATGTCCTGAGTGGC -3'
(R):5'- GCTAACAGGGCAGACCAACATC -3'
Posted On 2018-09-12