Incidental Mutation 'R9472:Capn9'
ID 715527
Institutional Source Beutler Lab
Gene Symbol Capn9
Ensembl Gene ENSMUSG00000031981
Gene Name calpain 9
Synonyms GC36, nCL-4
MMRRC Submission
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.394) question?
Stock # R9472 (G1)
Quality Score 225.009
Status Not validated
Chromosome 8
Chromosomal Location 125302850-125345470 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 125325534 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000090717 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000093033]
AlphaFold Q9D805
Predicted Effect probably null
Transcript: ENSMUST00000093033
SMART Domains Protein: ENSMUSP00000090717
Gene: ENSMUSG00000031981

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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam18 T G 8: 25,127,248 (GRCm39) K449N probably benign Het
Adam39 G A 8: 41,279,351 (GRCm39) V581I possibly damaging Het
Agrn A G 4: 156,254,841 (GRCm39) F1625S Het
Aox3 G T 1: 58,215,669 (GRCm39) V1034L possibly damaging Het
Baz2a T G 10: 127,948,624 (GRCm39) S302A probably benign Het
Ccdc153 A T 9: 44,154,923 (GRCm39) Q104L possibly damaging Het
Cdh1 A T 8: 107,380,248 (GRCm39) N168I probably damaging Het
Crisp3 A T 17: 40,539,676 (GRCm39) probably null Het
Ctsb T C 14: 63,379,186 (GRCm39) V266A probably damaging Het
Cyp2c39 G T 19: 39,502,043 (GRCm39) R144L probably damaging Het
Elmo1 C T 13: 20,470,897 (GRCm39) A263V probably benign Het
Enkur T C 2: 21,201,590 (GRCm39) R32G possibly damaging Het
Fsip2 T A 2: 82,817,285 (GRCm39) N4339K possibly damaging Het
Gsn T G 2: 35,182,741 (GRCm39) M268R probably damaging Het
Herc2 T A 7: 55,813,843 (GRCm39) W2659R probably damaging Het
Hycc2 A G 1: 58,574,641 (GRCm39) V300A possibly damaging Het
Ino80e A G 7: 126,461,127 (GRCm39) V40A unknown Het
Ints2 T C 11: 86,133,824 (GRCm39) T409A Het
Itpr3 G A 17: 27,337,651 (GRCm39) probably benign Het
Kat2a A G 11: 100,596,197 (GRCm39) V787A probably benign Het
Klhl32 A G 4: 24,629,273 (GRCm39) V465A probably benign Het
Kmt2a C A 9: 44,733,453 (GRCm39) R2288L unknown Het
Megf6 G A 4: 154,333,910 (GRCm39) G213S probably damaging Het
Mt2 T A 8: 94,899,999 (GRCm39) C44S probably damaging Het
Nfe2l1 A G 11: 96,710,159 (GRCm39) V690A probably damaging Het
Obscn T C 11: 58,894,495 (GRCm39) H6670R Het
Or4c111 A C 2: 88,843,517 (GRCm39) I297S possibly damaging Het
Orc4 T C 2: 48,795,563 (GRCm39) T388A probably benign Het
Pcdhb17 C A 18: 37,618,919 (GRCm39) N236K probably damaging Het
Phlpp1 T C 1: 106,308,079 (GRCm39) S1119P probably damaging Het
Plppr3 T C 10: 79,702,711 (GRCm39) D184G probably damaging Het
Rassf6 A T 5: 90,765,572 (GRCm39) Y46* probably null Het
Rmdn2 T A 17: 79,989,096 (GRCm39) I405N possibly damaging Het
Rsbn1l A C 5: 21,113,119 (GRCm39) S468A probably damaging Het
Rslcan18 T C 13: 67,260,296 (GRCm39) K34E probably benign Het
Runx3 A G 4: 134,898,441 (GRCm39) D204G probably damaging Het
Sbf2 A G 7: 109,970,798 (GRCm39) I866T possibly damaging Het
Sgtb A C 13: 104,247,681 (GRCm39) E28D probably benign Het
Slc38a8 T A 8: 120,227,888 (GRCm39) K14M probably damaging Het
Spast T C 17: 74,681,143 (GRCm39) V478A probably damaging Het
Stxbp5 T C 10: 9,719,101 (GRCm39) T147A probably damaging Het
Tmem208 T C 8: 106,055,027 (GRCm39) F79S probably damaging Het
Tmprss7 T C 16: 45,501,052 (GRCm39) I250V probably benign Het
Usp24 A G 4: 106,261,128 (GRCm39) T1628A probably benign Het
Vmn2r14 G T 5: 109,367,962 (GRCm39) N343K probably benign Het
Xrcc6 T A 15: 81,913,328 (GRCm39) Y320* probably null Het
Zbtb10 A C 3: 9,343,355 (GRCm39) T627P probably benign Het
Zfp532 A T 18: 65,756,624 (GRCm39) K186* probably null 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
IGL03169:Capn9 APN 8 125,332,616 (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
RF015:Capn9 UTSW 8 125,345,221 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- CGTACTTCCAATTTCTAAGGCC -3'
(R):5'- CCCCTAAGGTAAGTTTGGTGC -3'

Sequencing Primer
(F):5'- TCTAAGGCCTACATACATGGCTG -3'
(R):5'- TTGGTGCATGCATGGCCC -3'
Posted On 2022-06-15