Incidental Mutation 'IGL03065:Capn9'
ID409648
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Capn9
Ensembl Gene ENSMUSG00000031981
Gene Namecalpain 9
SynonymsGC36, nCL-4
Accession Numbers

Genbank: NM_023709; MGI: 1920897

Is this an essential gene? Probably non essential (E-score: 0.068) question?
Stock #IGL03065
Quality Score
Status
Chromosome8
Chromosomal Location124576111-124618731 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 124605559 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Serine at position 423 (Y423S)
Ref Sequence ENSEMBL: ENSMUSP00000090717 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000093033]
Predicted Effect probably damaging
Transcript: ENSMUST00000093033
AA Change: Y423S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000090717
Gene: ENSMUSG00000031981
AA Change: Y423S

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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrl1 A G 8: 83,938,514 M1322V possibly damaging Het
Adprh C T 16: 38,446,034 V249I probably benign Het
Als2 T C 1: 59,215,872 S109G probably benign Het
Bpifa1 T A 2: 154,147,642 N250K probably damaging Het
Cd200r1 T G 16: 44,794,282 V308G probably benign Het
Cic T C 7: 25,285,821 probably benign Het
Col5a1 T A 2: 28,032,745 I275N possibly damaging Het
Col6a4 C A 9: 106,041,164 probably benign Het
Cpeb1 T C 7: 81,436,290 R35G probably benign Het
Cul1 A G 6: 47,495,081 Y52C probably damaging Het
Dctn1 T C 6: 83,192,493 F496L probably damaging Het
Dock11 G T X: 36,047,046 probably benign Het
Eaf2 C T 16: 36,828,122 R12H probably benign Het
Gcc1 T A 6: 28,418,402 Q644L possibly damaging Het
Gm44865 C T 7: 108,565,797 probably benign Het
Gm6614 C A 6: 141,992,502 L230F probably damaging Het
Golgb1 C T 16: 36,912,866 S825L probably benign Het
Gstp3 C T 19: 4,058,730 probably null Het
Heph T A X: 96,527,567 I669N probably benign Het
Il12rb1 A T 8: 70,820,558 Y635F possibly damaging Het
Ing3 G A 6: 21,971,222 A331T probably benign Het
Ipo8 T A 6: 148,784,707 I762F probably benign Het
Itpr3 G A 17: 27,091,933 R510Q probably damaging Het
Kif16b A G 2: 142,619,913 Y1273H probably damaging Het
Map3k14 T C 11: 103,225,101 E784G probably damaging Het
Mpdz A T 4: 81,292,565 N1694K probably damaging Het
Myh13 T C 11: 67,344,853 F648S probably damaging Het
Myh4 A G 11: 67,259,156 H1847R probably benign Het
Ncoa7 T A 10: 30,647,997 D840V probably damaging Het
Nxpe2 T A 9: 48,319,692 N459I possibly damaging Het
Olfr1297 T C 2: 111,621,190 K295E probably damaging Het
Olfr1426 C A 19: 12,088,611 L60F possibly damaging Het
Olfr730 C A 14: 50,187,008 D70Y probably damaging Het
Ovgp1 T C 3: 105,986,366 F485S probably benign Het
Parp4 G T 14: 56,637,869 A1182S probably benign Het
Pkd1l2 G A 8: 117,065,745 T436I probably benign Het
Pla2g15 G A 8: 106,160,219 R114H probably benign Het
Plppr3 T A 10: 79,866,046 T321S probably benign Het
Rnf113a1 A G X: 37,192,095 D235G probably benign Het
Rsrp1 A G 4: 134,924,389 T155A possibly damaging Het
Simc1 G T 13: 54,537,212 C87F probably damaging Het
Slco1a5 A G 6: 142,248,843 probably benign Het
Smyd5 A G 6: 85,442,164 D276G possibly damaging Het
Spata5 T C 3: 37,432,179 V350A possibly damaging Het
Tmem132c A G 5: 127,563,624 Y953C probably damaging Het
Trank1 T A 9: 111,390,293 S2033T possibly damaging Het
Trim69 A G 2: 122,178,634 T392A probably damaging Het
Tsks T C 7: 44,943,300 V6A probably damaging Het
Yjefn3 A G 8: 69,889,556 probably benign Het
Zfp263 T G 16: 3,746,480 D211E probably benign Het
Zfp994 A T 17: 22,202,680 F51L probably damaging Het
Znfx1 A T 2: 167,055,765 M413K probably benign Het
Other mutations in Capn9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01743:Capn9 APN 8 124591769 missense probably benign
IGL01987:Capn9 APN 8 124576226 missense probably benign 0.01
IGL02150:Capn9 APN 8 124613843 missense probably benign 0.01
IGL02348:Capn9 APN 8 124594677 missense probably damaging 1.00
IGL02720:Capn9 APN 8 124600497 splice site probably benign
IGL02723:Capn9 APN 8 124609183 splice site probably benign
IGL03169:Capn9 APN 8 124605877 missense probably damaging 1.00
A2778:Capn9 UTSW 8 124605478 missense possibly damaging 0.95
R0288:Capn9 UTSW 8 124600491 splice site probably benign
R1353:Capn9 UTSW 8 124605566 splice site probably null
R1611:Capn9 UTSW 8 124611512 missense possibly damaging 0.90
R1672:Capn9 UTSW 8 124613831 missense probably benign 0.03
R1682:Capn9 UTSW 8 124611565 splice site probably null
R1729:Capn9 UTSW 8 124605711 missense possibly damaging 0.90
R1739:Capn9 UTSW 8 124605711 missense possibly damaging 0.90
R1762:Capn9 UTSW 8 124605711 missense possibly damaging 0.90
R1783:Capn9 UTSW 8 124605711 missense possibly damaging 0.90
R1784:Capn9 UTSW 8 124605711 missense possibly damaging 0.90
R1785:Capn9 UTSW 8 124605711 missense possibly damaging 0.90
R1836:Capn9 UTSW 8 124605565 critical splice donor site probably null
R1883:Capn9 UTSW 8 124611558 missense probably benign
R1924:Capn9 UTSW 8 124576226 missense probably benign 0.01
R2008:Capn9 UTSW 8 124591685 missense probably damaging 1.00
R2049:Capn9 UTSW 8 124605711 missense possibly damaging 0.90
R2069:Capn9 UTSW 8 124605711 missense possibly damaging 0.90
R2131:Capn9 UTSW 8 124605711 missense possibly damaging 0.90
R2141:Capn9 UTSW 8 124605711 missense possibly damaging 0.90
R2219:Capn9 UTSW 8 124609159 nonsense probably null
R4193:Capn9 UTSW 8 124600486 missense probably null 0.00
R4707:Capn9 UTSW 8 124613456 missense possibly damaging 0.82
R5092:Capn9 UTSW 8 124597525 missense probably damaging 1.00
R5386:Capn9 UTSW 8 124605540 missense possibly damaging 0.83
R5697:Capn9 UTSW 8 124589071 missense unknown
R5734:Capn9 UTSW 8 124605844 missense probably damaging 1.00
R5999:Capn9 UTSW 8 124589078 missense probably damaging 1.00
R6026:Capn9 UTSW 8 124605862 missense probably damaging 1.00
R6298:Capn9 UTSW 8 124617454 missense probably benign
R6787:Capn9 UTSW 8 124616185 missense probably benign 0.00
R6856:Capn9 UTSW 8 124597569 missense probably damaging 1.00
R7131:Capn9 UTSW 8 124576278 missense probably damaging 1.00
R7149:Capn9 UTSW 8 124605709 missense probably benign 0.00
RF015:Capn9 UTSW 8 124618482 missense probably benign 0.00
Posted On2016-08-02