Incidental Mutation 'IGL02076:Capn5'
ID 185981
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Capn5
Ensembl Gene ENSMUSG00000035547
Gene Name calpain 5
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.077) question?
Stock # IGL02076
Quality Score
Status
Chromosome 7
Chromosomal Location 97770766-97827481 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 97780950 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Stop codon at position 276 (K276*)
Ref Sequence ENSEMBL: ENSMUSP00000102729 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040971] [ENSMUST00000107112]
AlphaFold O08688
Predicted Effect probably null
Transcript: ENSMUST00000040971
AA Change: K276*
SMART Domains Protein: ENSMUSP00000048183
Gene: ENSMUSG00000035547
AA Change: K276*

DomainStartEndE-ValueType
CysPc 8 351 4.18e-212 SMART
calpain_III 353 496 1.21e-66 SMART
C2 518 619 1.29e-9 SMART
Predicted Effect probably null
Transcript: ENSMUST00000107112
AA Change: K276*
SMART Domains Protein: ENSMUSP00000102729
Gene: ENSMUSG00000035547
AA Change: K276*

DomainStartEndE-ValueType
CysPc 8 351 4.18e-212 SMART
calpain_III 353 496 1.21e-66 SMART
C2 518 619 1.29e-9 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: The protein encoded by this gene is a member of the calpain family of proteins. Unlike many members of the calpain gene family, this gene lacks a calmodulin-like domain, required for calcium binding. Mouse models for Huntington's disease displayed increased levels of the protein encoded by this gene. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
PHENOTYPE: Mice homozygous for one allele of this gene occasionally exhibit reduced viability but are usually normal. Homozygotes for another allele die as embryos. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam22 T C 5: 8,186,900 (GRCm39) Y407C probably damaging Het
Cct4 T C 11: 22,952,394 (GRCm39) V495A probably damaging Het
Dapk3 A G 10: 81,026,131 (GRCm39) K141E probably damaging Het
Dnah2 T C 11: 69,313,385 (GRCm39) N4264S probably damaging Het
Dok1 A G 6: 83,009,812 (GRCm39) L99P probably damaging Het
Ebf3 A G 7: 136,833,030 (GRCm39) V215A possibly damaging Het
Efnb2 A G 8: 8,710,488 (GRCm39) S43P probably benign Het
Jhy G A 9: 40,828,674 (GRCm39) Q411* probably null Het
Krt73 G A 15: 101,708,370 (GRCm39) T229I probably damaging Het
Mroh8 A G 2: 157,113,882 (GRCm39) probably null Het
Olfm1 A G 2: 28,112,637 (GRCm39) T223A probably damaging Het
Oprk1 T A 1: 5,672,512 (GRCm39) D216E probably damaging Het
Or4b1d T A 2: 89,969,159 (GRCm39) E108V probably damaging Het
Or8g23 A G 9: 38,971,881 (GRCm39) L27P probably damaging Het
Pim1 T A 17: 29,712,777 (GRCm39) I230N probably damaging Het
Ppm1f A C 16: 16,732,035 (GRCm39) T162P possibly damaging Het
Rbbp8 T C 18: 11,838,876 (GRCm39) Y186H probably damaging Het
Sema4a C T 3: 88,357,829 (GRCm39) R225H probably damaging Het
Slc15a2 A C 16: 36,582,743 (GRCm39) F215C probably damaging Het
Slc25a1 A G 16: 17,745,490 (GRCm39) C41R possibly damaging Het
Stil C A 4: 114,880,834 (GRCm39) H459Q probably benign Het
Tbc1d32 A G 10: 55,964,499 (GRCm39) I900T possibly damaging Het
Tmem33 T C 5: 67,443,446 (GRCm39) F208L probably damaging Het
Utp25 T C 1: 192,812,367 (GRCm39) H31R probably damaging Het
Vmn2r72 A G 7: 85,387,575 (GRCm39) V663A probably damaging Het
Other mutations in Capn5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01019:Capn5 APN 7 97,784,971 (GRCm39) missense probably damaging 1.00
IGL01311:Capn5 APN 7 97,811,130 (GRCm39) missense probably damaging 1.00
IGL01768:Capn5 APN 7 97,774,480 (GRCm39) missense probably damaging 1.00
IGL01926:Capn5 APN 7 97,777,679 (GRCm39) critical splice donor site probably null
IGL02505:Capn5 APN 7 97,780,403 (GRCm39) missense possibly damaging 0.85
BB007:Capn5 UTSW 7 97,773,085 (GRCm39) missense probably benign
BB017:Capn5 UTSW 7 97,773,085 (GRCm39) missense probably benign
PIT4466001:Capn5 UTSW 7 97,773,195 (GRCm39) missense probably benign 0.00
R0178:Capn5 UTSW 7 97,782,098 (GRCm39) missense probably damaging 1.00
R0518:Capn5 UTSW 7 97,782,089 (GRCm39) missense probably damaging 1.00
R0521:Capn5 UTSW 7 97,782,089 (GRCm39) missense probably damaging 1.00
R1459:Capn5 UTSW 7 97,781,049 (GRCm39) missense possibly damaging 0.84
R2005:Capn5 UTSW 7 97,778,570 (GRCm39) missense probably benign
R2258:Capn5 UTSW 7 97,785,082 (GRCm39) missense probably damaging 0.99
R2327:Capn5 UTSW 7 97,775,574 (GRCm39) missense probably benign 0.07
R3797:Capn5 UTSW 7 97,775,036 (GRCm39) missense probably null 0.77
R4032:Capn5 UTSW 7 97,778,453 (GRCm39) missense probably damaging 0.96
R4620:Capn5 UTSW 7 97,778,578 (GRCm39) missense probably damaging 0.98
R4717:Capn5 UTSW 7 97,773,126 (GRCm39) missense probably benign 0.02
R4777:Capn5 UTSW 7 97,780,925 (GRCm39) missense probably damaging 1.00
R4823:Capn5 UTSW 7 97,775,648 (GRCm39) missense probably damaging 1.00
R4841:Capn5 UTSW 7 97,780,879 (GRCm39) splice site probably null
R4965:Capn5 UTSW 7 97,775,624 (GRCm39) missense probably damaging 0.99
R5568:Capn5 UTSW 7 97,775,137 (GRCm39) missense probably damaging 1.00
R5732:Capn5 UTSW 7 97,778,593 (GRCm39) missense possibly damaging 0.95
R5792:Capn5 UTSW 7 97,780,402 (GRCm39) missense probably benign 0.09
R6892:Capn5 UTSW 7 97,785,148 (GRCm39) missense probably damaging 1.00
R6923:Capn5 UTSW 7 97,778,461 (GRCm39) missense probably damaging 1.00
R7095:Capn5 UTSW 7 97,775,038 (GRCm39) missense probably benign 0.10
R7391:Capn5 UTSW 7 97,780,426 (GRCm39) missense probably benign 0.02
R7553:Capn5 UTSW 7 97,773,231 (GRCm39) missense probably damaging 1.00
R7930:Capn5 UTSW 7 97,773,085 (GRCm39) missense probably benign
R8876:Capn5 UTSW 7 97,780,902 (GRCm39) missense probably benign 0.01
R8914:Capn5 UTSW 7 97,784,997 (GRCm39) missense probably damaging 0.99
R9012:Capn5 UTSW 7 97,814,050 (GRCm39) start gained probably benign
R9087:Capn5 UTSW 7 97,775,531 (GRCm39) missense probably damaging 1.00
Posted On 2014-05-07