Incidental Mutation 'IGL03169:Capn9'
ID 411771
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Capn9
Ensembl Gene ENSMUSG00000031981
Gene Name calpain 9
Synonyms GC36, nCL-4
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.394) question?
Stock # IGL03169
Quality Score
Status
Chromosome 8
Chromosomal Location 125302850-125345470 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 125332616 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 485 (I485T)
Ref Sequence ENSEMBL: ENSMUSP00000090717 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000093033]
AlphaFold Q9D805
Predicted Effect probably damaging
Transcript: ENSMUST00000093033
AA Change: I485T

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000090717
Gene: ENSMUSG00000031981
AA Change: I485T

DomainStartEndE-ValueType
CysPc 24 345 1.53e-196 SMART
calpain_III 348 494 1.91e-87 SMART
low complexity region 504 522 N/A INTRINSIC
EFh 565 593 1.25e-2 SMART
EFh 595 623 2.64e-1 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Calpains are ubiquitous, well-conserved family of calcium-dependent, cysteine proteases. The calpain proteins are heterodimers consisting of an invariant small subunit and variable large subunits. The large subunit possesses a cysteine protease domain, and both subunits possess calcium-binding domains. Calpains have been implicated in neurodegenerative processes, as their activation can be triggered by calcium influx and oxidative stress. The protein encoded by this gene is expressed predominantly in stomach and small intestine and may have specialized functions in the digestive tract. This gene is thought to be associated with gastric cancer. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased sensitivity to ethanol-induced gastric mucosa injury. [provided by MGI curators]
Allele List at MGI

All alleles(1) : Gene trapped(1)

Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrl1 A T 8: 84,658,624 (GRCm39) I548F probably damaging Het
Adgrv1 T A 13: 81,652,019 (GRCm39) Q2995L probably damaging Het
Ccdc17 T A 4: 116,454,957 (GRCm39) I197N probably damaging Het
Chl1 T A 6: 103,642,928 (GRCm39) L222Q probably damaging Het
Ctla4 T C 1: 60,953,764 (GRCm39) probably benign Het
Cyp2d12 T C 15: 82,443,492 (GRCm39) S485P probably benign Het
Ddx50 A T 10: 62,457,166 (GRCm39) probably null Het
Dlgap4 C A 2: 156,552,938 (GRCm39) probably null Het
Dpysl4 G A 7: 138,679,826 (GRCm39) probably null Het
Erbin T C 13: 103,977,740 (GRCm39) M606V possibly damaging Het
Fat4 T G 3: 39,011,547 (GRCm39) S2216A probably benign Het
Frem2 T C 3: 53,429,713 (GRCm39) N2779S probably benign Het
Fut1 T C 7: 45,268,457 (GRCm39) V82A probably benign Het
Gnb1l C T 16: 18,359,205 (GRCm39) A2V probably damaging Het
Hdac1 C T 4: 129,412,624 (GRCm39) E327K probably null Het
Hdlbp A G 1: 93,344,309 (GRCm39) V819A possibly damaging Het
Ift122 T C 6: 115,882,922 (GRCm39) probably benign Het
Iqgap2 T C 13: 95,867,785 (GRCm39) probably null Het
Kntc1 T C 5: 123,913,884 (GRCm39) V613A possibly damaging Het
Lamb1 T C 12: 31,373,645 (GRCm39) V1458A probably damaging Het
Lef1 A G 3: 130,988,312 (GRCm39) K265R probably damaging Het
Lrp2 T C 2: 69,353,538 (GRCm39) D574G probably damaging Het
Mterf2 C T 10: 84,956,324 (GRCm39) R100H probably benign Het
Nr1d2 C T 14: 18,216,703 (GRCm38) R155Q probably damaging Het
Obscn T C 11: 58,964,122 (GRCm39) T3304A probably damaging Het
Or2j3 G T 17: 38,615,992 (GRCm39) S120Y probably damaging Het
Or4a78 A G 2: 89,497,831 (GRCm39) I133T possibly damaging Het
Os9 G A 10: 126,934,463 (GRCm39) T391M probably benign Het
Parp6 C A 9: 59,557,300 (GRCm39) Y131* probably null Het
Plxdc1 T C 11: 97,823,146 (GRCm39) E358G possibly damaging Het
Ppef2 C T 5: 92,383,759 (GRCm39) W450* probably null Het
Ptprc A T 1: 138,041,357 (GRCm39) S167R probably benign Het
Rad54l2 T C 9: 106,596,263 (GRCm39) D225G probably benign Het
Rgs7 T C 1: 175,098,401 (GRCm39) I53V possibly damaging Het
Rpa1 T C 11: 75,192,183 (GRCm39) D607G probably damaging Het
Shisa5 T A 9: 108,885,560 (GRCm39) H213Q probably damaging Het
Syncrip A G 9: 88,338,496 (GRCm39) probably benign Het
Taf4b T G 18: 14,954,592 (GRCm39) V556G probably damaging Het
Tgif1 A C 17: 71,151,836 (GRCm39) S258R possibly damaging Het
Tmem106a T C 11: 101,481,284 (GRCm39) probably benign Het
Vmn1r113 A T 7: 20,522,012 (GRCm39) H268L probably benign Het
Vmn1r40 A T 6: 89,692,005 (GRCm39) Q274L probably damaging Het
Wdr70 A C 15: 7,913,821 (GRCm39) I609M possibly damaging Het
Wdr91 G A 6: 34,882,426 (GRCm39) S241L possibly damaging Het
Zfyve9 T C 4: 108,553,022 (GRCm39) Y713C probably damaging Het
Other mutations in Capn9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01743:Capn9 APN 8 125,318,508 (GRCm39) missense probably benign
IGL01987:Capn9 APN 8 125,302,965 (GRCm39) missense probably benign 0.01
IGL02150:Capn9 APN 8 125,340,582 (GRCm39) missense probably benign 0.01
IGL02348:Capn9 APN 8 125,321,416 (GRCm39) missense probably damaging 1.00
IGL02720:Capn9 APN 8 125,327,236 (GRCm39) splice site probably benign
IGL02723:Capn9 APN 8 125,335,922 (GRCm39) splice site probably benign
IGL03065:Capn9 APN 8 125,332,298 (GRCm39) missense probably damaging 1.00
A2778:Capn9 UTSW 8 125,332,217 (GRCm39) missense possibly damaging 0.95
R0288:Capn9 UTSW 8 125,327,230 (GRCm39) splice site probably benign
R1353:Capn9 UTSW 8 125,332,305 (GRCm39) splice site probably null
R1611:Capn9 UTSW 8 125,338,251 (GRCm39) missense possibly damaging 0.90
R1672:Capn9 UTSW 8 125,340,570 (GRCm39) missense probably benign 0.03
R1682:Capn9 UTSW 8 125,338,304 (GRCm39) splice site probably null
R1729:Capn9 UTSW 8 125,332,450 (GRCm39) missense possibly damaging 0.90
R1739:Capn9 UTSW 8 125,332,450 (GRCm39) missense possibly damaging 0.90
R1762:Capn9 UTSW 8 125,332,450 (GRCm39) missense possibly damaging 0.90
R1783:Capn9 UTSW 8 125,332,450 (GRCm39) missense possibly damaging 0.90
R1784:Capn9 UTSW 8 125,332,450 (GRCm39) missense possibly damaging 0.90
R1785:Capn9 UTSW 8 125,332,450 (GRCm39) missense possibly damaging 0.90
R1836:Capn9 UTSW 8 125,332,304 (GRCm39) critical splice donor site probably null
R1883:Capn9 UTSW 8 125,338,297 (GRCm39) missense probably benign
R1924:Capn9 UTSW 8 125,302,965 (GRCm39) missense probably benign 0.01
R2008:Capn9 UTSW 8 125,318,424 (GRCm39) missense probably damaging 1.00
R2049:Capn9 UTSW 8 125,332,450 (GRCm39) missense possibly damaging 0.90
R2069:Capn9 UTSW 8 125,332,450 (GRCm39) missense possibly damaging 0.90
R2131:Capn9 UTSW 8 125,332,450 (GRCm39) missense possibly damaging 0.90
R2141:Capn9 UTSW 8 125,332,450 (GRCm39) missense possibly damaging 0.90
R2219:Capn9 UTSW 8 125,335,898 (GRCm39) nonsense probably null
R4193:Capn9 UTSW 8 125,327,225 (GRCm39) missense probably null 0.00
R4707:Capn9 UTSW 8 125,340,195 (GRCm39) missense possibly damaging 0.82
R5092:Capn9 UTSW 8 125,324,264 (GRCm39) missense probably damaging 1.00
R5386:Capn9 UTSW 8 125,332,279 (GRCm39) missense possibly damaging 0.83
R5697:Capn9 UTSW 8 125,315,810 (GRCm39) missense unknown
R5734:Capn9 UTSW 8 125,332,583 (GRCm39) missense probably damaging 1.00
R5999:Capn9 UTSW 8 125,315,817 (GRCm39) missense probably damaging 1.00
R6026:Capn9 UTSW 8 125,332,601 (GRCm39) missense probably damaging 1.00
R6298:Capn9 UTSW 8 125,344,193 (GRCm39) missense probably benign
R6787:Capn9 UTSW 8 125,342,924 (GRCm39) missense probably benign 0.00
R6856:Capn9 UTSW 8 125,324,308 (GRCm39) missense probably damaging 1.00
R7131:Capn9 UTSW 8 125,303,017 (GRCm39) missense probably damaging 1.00
R7149:Capn9 UTSW 8 125,332,448 (GRCm39) missense probably benign 0.00
R7975:Capn9 UTSW 8 125,325,515 (GRCm39) missense probably damaging 1.00
R8086:Capn9 UTSW 8 125,334,692 (GRCm39) critical splice acceptor site probably null
R9197:Capn9 UTSW 8 125,340,600 (GRCm39) missense probably damaging 0.98
R9366:Capn9 UTSW 8 125,332,280 (GRCm39) missense probably benign 0.24
R9415:Capn9 UTSW 8 125,332,449 (GRCm39) missense probably benign 0.00
R9472:Capn9 UTSW 8 125,325,534 (GRCm39) critical splice donor site probably null
RF015:Capn9 UTSW 8 125,345,221 (GRCm39) missense probably benign 0.00
Posted On 2016-08-02