Incidental Mutation 'IGL01481:Capn7'
ID 88599
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Capn7
Ensembl Gene ENSMUSG00000021893
Gene Name calpain 7
Synonyms PalBH
Accession Numbers
Essential gene? Probably essential (E-score: 0.818) question?
Stock # IGL01481
Quality Score
Status
Chromosome 14
Chromosomal Location 31058595-31093943 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 31077296 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 338 (L338P)
Ref Sequence ENSEMBL: ENSMUSP00000119214 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022451] [ENSMUST00000140002] [ENSMUST00000143472] [ENSMUST00000152182]
AlphaFold Q9R1S8
Predicted Effect probably damaging
Transcript: ENSMUST00000022451
AA Change: L338P

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000022451
Gene: ENSMUSG00000021893
AA Change: L338P

DomainStartEndE-ValueType
MIT 3 77 1.54e0 SMART
MIT 83 160 1.07e-17 SMART
CysPc 218 547 1.08e-91 SMART
Blast:CysPc 550 620 4e-39 BLAST
calpain_III 686 810 2.78e-39 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000140002
SMART Domains Protein: ENSMUSP00000117152
Gene: ENSMUSG00000021892

DomainStartEndE-ValueType
Pfam:SH3BP5 42 272 2.3e-99 PFAM
low complexity region 323 335 N/A INTRINSIC
low complexity region 407 428 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000143472
AA Change: L338P

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000118596
Gene: ENSMUSG00000021893
AA Change: L338P

DomainStartEndE-ValueType
MIT 3 77 1.54e0 SMART
MIT 83 160 1.07e-17 SMART
CysPc 218 500 2.32e-50 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000152182
AA Change: L338P

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000119214
Gene: ENSMUSG00000021893
AA Change: L338P

DomainStartEndE-ValueType
MIT 3 77 1.54e0 SMART
MIT 83 160 1.07e-17 SMART
CysPc 218 500 2.32e-50 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 function of the protein encoded by this gene is not known. An orthologue has been found in mouse but it seems to diverge from other family members. The mouse orthologue is thought to be calcium independent with protease activity. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene frequently die before weaning. Survivors display reduced body weight. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930590J08Rik A T 6: 91,910,079 (GRCm39) S523C probably damaging Het
Apaf1 A T 10: 90,867,450 (GRCm39) D798E possibly damaging Het
Arhgef7 G T 8: 11,865,256 (GRCm39) V410L probably benign Het
Cldn17 A G 16: 88,303,471 (GRCm39) V86A probably benign Het
Clec4a2 A G 6: 123,119,459 (GRCm39) N237S probably benign Het
Cmtr1 T G 17: 29,917,631 (GRCm39) I654S probably benign Het
Cryzl2 G A 1: 157,298,309 (GRCm39) probably null Het
Ctif A G 18: 75,744,855 (GRCm39) probably benign Het
Dcaf7 T A 11: 105,945,572 (GRCm39) I307N probably damaging Het
Drosha A T 15: 12,842,525 (GRCm39) T399S probably benign Het
Eef2k A T 7: 120,494,441 (GRCm39) Y35F probably benign Het
Emc1 T C 4: 139,089,410 (GRCm39) S193P probably benign Het
Fpr2 T C 17: 18,113,025 (GRCm39) I7T probably benign Het
Fras1 C A 5: 96,805,100 (GRCm39) N1247K probably damaging Het
Gipr T C 7: 18,893,431 (GRCm39) probably benign Het
Heatr5a C T 12: 52,002,208 (GRCm39) G243S probably damaging Het
Hivep2 G A 10: 14,024,981 (GRCm39) R2265Q probably benign Het
Iars1 T C 13: 49,882,174 (GRCm39) S1073P probably benign Het
Inpp4b T C 8: 82,724,009 (GRCm39) S514P probably damaging Het
Inpp5b T A 4: 124,694,492 (GRCm39) probably null Het
Itga2 C T 13: 114,996,168 (GRCm39) V708I possibly damaging Het
Itih5 A C 2: 10,195,100 (GRCm39) Q164P probably damaging Het
Map3k19 T A 1: 127,750,215 (GRCm39) E1045D probably damaging Het
Mbd5 T C 2: 49,168,951 (GRCm39) V1374A possibly damaging Het
Mrps34 T C 17: 25,116,310 (GRCm39) probably benign Het
Nadsyn1 T C 7: 143,366,321 (GRCm39) D191G probably damaging Het
Nlrc3 T G 16: 3,781,769 (GRCm39) N563H probably damaging Het
Nlrp4c T C 7: 6,103,783 (GRCm39) C906R possibly damaging Het
Or10g6 T C 9: 39,934,574 (GRCm39) M295T possibly damaging Het
Or1j15 T A 2: 36,458,754 (GRCm39) L48H probably damaging Het
Or4a79 A G 2: 89,551,870 (GRCm39) L195P probably damaging Het
Or52u1 C A 7: 104,237,067 (GRCm39) P36T probably damaging Het
Pdgfd C A 9: 6,337,271 (GRCm39) T195K probably null Het
Ptprz1 C A 6: 22,999,979 (GRCm39) Q690K probably benign Het
Scfd1 T A 12: 51,430,903 (GRCm39) M23K probably damaging Het
Scn10a G A 9: 119,438,260 (GRCm39) R1869C probably damaging Het
Scp2 T C 4: 107,931,639 (GRCm39) probably null Het
Sec61a1 A G 6: 88,483,829 (GRCm39) V354A probably benign Het
Sgpp1 T C 12: 75,769,431 (GRCm39) I246V probably benign Het
Slco2a1 G T 9: 102,947,450 (GRCm39) D250Y probably damaging Het
Slit2 A G 5: 48,460,273 (GRCm39) N1435D probably benign Het
Sspo A G 6: 48,425,449 (GRCm39) I23M probably benign Het
Steap4 A T 5: 8,026,858 (GRCm39) T274S probably damaging Het
Tbc1d22b T C 17: 29,787,572 (GRCm39) L107P possibly damaging Het
Tiparp G T 3: 65,460,030 (GRCm39) G442* probably null Het
Tmem45a2 T A 16: 56,867,375 (GRCm39) I109F probably benign Het
Top2a A T 11: 98,901,856 (GRCm39) L458Q probably damaging Het
Tox T A 4: 6,842,396 (GRCm39) T45S probably damaging Het
Vmn2r4 A T 3: 64,313,816 (GRCm39) N388K probably damaging Het
Wdr7 G A 18: 63,872,250 (GRCm39) D395N probably damaging Het
Other mutations in Capn7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00428:Capn7 APN 14 31,085,535 (GRCm39) missense probably benign 0.41
IGL03231:Capn7 APN 14 31,077,247 (GRCm39) missense probably damaging 1.00
R0018:Capn7 UTSW 14 31,076,069 (GRCm39) nonsense probably null
R0018:Capn7 UTSW 14 31,076,069 (GRCm39) nonsense probably null
R0060:Capn7 UTSW 14 31,087,561 (GRCm39) splice site probably benign
R0060:Capn7 UTSW 14 31,087,561 (GRCm39) splice site probably benign
R0077:Capn7 UTSW 14 31,090,072 (GRCm39) missense probably benign 0.10
R0195:Capn7 UTSW 14 31,087,538 (GRCm39) missense probably damaging 1.00
R0316:Capn7 UTSW 14 31,069,766 (GRCm39) missense probably benign 0.00
R0815:Capn7 UTSW 14 31,091,714 (GRCm39) missense possibly damaging 0.85
R0863:Capn7 UTSW 14 31,091,714 (GRCm39) missense possibly damaging 0.85
R1697:Capn7 UTSW 14 31,082,117 (GRCm39) missense probably damaging 1.00
R1954:Capn7 UTSW 14 31,082,107 (GRCm39) missense probably damaging 1.00
R2096:Capn7 UTSW 14 31,071,844 (GRCm39) critical splice donor site probably null
R3121:Capn7 UTSW 14 31,081,167 (GRCm39) missense probably damaging 1.00
R3122:Capn7 UTSW 14 31,081,167 (GRCm39) missense probably damaging 1.00
R4409:Capn7 UTSW 14 31,077,296 (GRCm39) missense probably damaging 1.00
R4676:Capn7 UTSW 14 31,081,216 (GRCm39) missense possibly damaging 0.72
R4799:Capn7 UTSW 14 31,082,514 (GRCm39) missense probably benign 0.01
R5023:Capn7 UTSW 14 31,074,383 (GRCm39) missense probably damaging 0.99
R5129:Capn7 UTSW 14 31,066,468 (GRCm39) missense probably damaging 0.99
R5460:Capn7 UTSW 14 31,090,160 (GRCm39) critical splice donor site probably null
R5608:Capn7 UTSW 14 31,092,664 (GRCm39) missense probably damaging 1.00
R5665:Capn7 UTSW 14 31,091,759 (GRCm39) missense probably benign 0.00
R5786:Capn7 UTSW 14 31,082,102 (GRCm39) missense probably damaging 1.00
R6186:Capn7 UTSW 14 31,092,875 (GRCm39) missense probably damaging 1.00
R6190:Capn7 UTSW 14 31,085,560 (GRCm39) missense probably benign 0.10
R6411:Capn7 UTSW 14 31,062,053 (GRCm39) missense probably benign 0.00
R6514:Capn7 UTSW 14 31,066,511 (GRCm39) missense probably benign 0.00
R6838:Capn7 UTSW 14 31,076,130 (GRCm39) missense possibly damaging 0.95
R7041:Capn7 UTSW 14 31,058,642 (GRCm39) unclassified probably benign
R7047:Capn7 UTSW 14 31,058,642 (GRCm39) unclassified probably benign
R7124:Capn7 UTSW 14 31,058,642 (GRCm39) unclassified probably benign
R7224:Capn7 UTSW 14 31,092,678 (GRCm39) nonsense probably null
R7417:Capn7 UTSW 14 31,092,663 (GRCm39) missense probably damaging 1.00
R7419:Capn7 UTSW 14 31,071,779 (GRCm39) missense probably benign 0.02
R7544:Capn7 UTSW 14 31,062,007 (GRCm39) missense probably damaging 1.00
R7699:Capn7 UTSW 14 31,074,401 (GRCm39) missense probably benign 0.00
R7700:Capn7 UTSW 14 31,074,401 (GRCm39) missense probably benign 0.00
R7775:Capn7 UTSW 14 31,074,367 (GRCm39) missense probably benign 0.00
R7824:Capn7 UTSW 14 31,074,367 (GRCm39) missense probably benign 0.00
R7908:Capn7 UTSW 14 31,088,202 (GRCm39) critical splice donor site probably null
R8057:Capn7 UTSW 14 31,092,936 (GRCm39) missense probably benign 0.27
R8176:Capn7 UTSW 14 31,069,729 (GRCm39) missense probably benign 0.03
R8270:Capn7 UTSW 14 31,080,636 (GRCm39) missense probably damaging 0.97
R9103:Capn7 UTSW 14 31,091,732 (GRCm39) missense probably benign 0.23
R9732:Capn7 UTSW 14 31,090,031 (GRCm39) missense probably damaging 0.98
Posted On 2013-11-18