Incidental Mutation 'R2096:Capn7'
ID 232131
Institutional Source Beutler Lab
Gene Symbol Capn7
Ensembl Gene ENSMUSG00000021893
Gene Name calpain 7
Synonyms PalBH
MMRRC Submission 040100-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.818) question?
Stock # R2096 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 31058595-31093943 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to G at 31071844 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000022451 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022451] [ENSMUST00000143472] [ENSMUST00000152182]
AlphaFold Q9R1S8
Predicted Effect probably null
Transcript: ENSMUST00000022451
SMART Domains Protein: ENSMUSP00000022451
Gene: ENSMUSG00000021893

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: ENSMUST00000143472
SMART Domains Protein: ENSMUSP00000118596
Gene: ENSMUSG00000021893

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 benign
Transcript: ENSMUST00000152182
SMART Domains Protein: ENSMUSP00000119214
Gene: ENSMUSG00000021893

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
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.3%
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb10 A G 8: 124,709,195 (GRCm39) S120P probably benign Het
Actr3b T A 5: 26,036,743 (GRCm39) Y185* probably null Het
Atg101 T A 15: 101,188,382 (GRCm39) H162Q possibly damaging Het
Btf3 T A 13: 98,449,659 (GRCm39) Q109L possibly damaging Het
Camk2d G A 3: 126,574,091 (GRCm39) G166D probably damaging Het
Cd209f A G 8: 4,155,537 (GRCm39) V17A probably benign Het
Cenpf A G 1: 189,385,656 (GRCm39) V2208A possibly damaging Het
Cnga1 C T 5: 72,776,404 (GRCm39) V20I possibly damaging Het
Comp T C 8: 70,828,713 (GRCm39) C182R probably damaging Het
Ctsl A G 13: 64,516,840 (GRCm39) probably null Het
Cyp3a44 G T 5: 145,725,215 (GRCm39) Q329K probably damaging Het
Dcpp1 A T 17: 24,099,971 (GRCm39) probably null Het
Dhx38 A G 8: 110,280,891 (GRCm39) V831A probably damaging Het
Dkk2 T C 3: 131,791,858 (GRCm39) M22T probably benign Het
Dnah2 C T 11: 69,346,742 (GRCm39) E2615K probably damaging Het
Dpy19l3 A G 7: 35,426,713 (GRCm39) probably null Het
Gm12888 T G 4: 121,176,655 (GRCm39) I49L probably benign Het
Insyn2b C A 11: 34,352,936 (GRCm39) S326Y probably benign Het
Kif15 T A 9: 122,815,252 (GRCm39) M194K probably damaging Het
Mael G T 1: 166,053,244 (GRCm39) Q254K probably benign Het
Nek9 T C 12: 85,361,322 (GRCm39) D461G probably benign Het
Nlrp12 T C 7: 3,281,825 (GRCm39) N819S probably benign Het
Ntng1 T A 3: 109,739,871 (GRCm39) N390Y probably damaging Het
Or5g25 A G 2: 85,478,434 (GRCm39) I77T probably benign Het
P2ry14 C T 3: 59,022,738 (GRCm39) V250I probably damaging Het
Pcnx2 A T 8: 126,485,987 (GRCm39) D1870E probably benign Het
Phf2 T A 13: 48,985,589 (GRCm39) K64* probably null Het
Phip T C 9: 82,797,392 (GRCm39) H537R possibly damaging Het
Ppa2 A G 3: 133,032,445 (GRCm39) T97A probably damaging Het
Psd G A 19: 46,313,088 (GRCm39) probably null Het
Psg23 T A 7: 18,348,668 (GRCm39) E46D probably damaging Het
Ptch1 T G 13: 63,672,773 (GRCm39) E944A probably benign Het
Rab11b A G 17: 33,967,976 (GRCm39) Y74H probably damaging Het
Rfc3 A T 5: 151,568,383 (GRCm39) S194R probably benign Het
Sema4d A T 13: 51,864,037 (GRCm39) I414N probably damaging Het
Serpinb1a A T 13: 33,031,437 (GRCm39) D120E probably damaging Het
Snai2 T A 16: 14,524,861 (GRCm39) H122Q possibly damaging Het
Spats2l T C 1: 57,985,458 (GRCm39) S504P probably benign Het
Sprr2j-ps T C 3: 92,326,412 (GRCm39) S96P unknown Het
Sspo G T 6: 48,438,608 (GRCm39) V1559L probably benign Het
Tas2r118 T G 6: 23,969,912 (GRCm39) I50L possibly damaging Het
Tdrd3 C T 14: 87,743,788 (GRCm39) Q573* probably null Het
Thoc2l T C 5: 104,667,835 (GRCm39) S786P possibly damaging Het
Tlnrd1 G A 7: 83,532,062 (GRCm39) T123I probably benign Het
Tmem214 T A 5: 31,033,714 (GRCm39) L555H probably damaging Het
Tmprss12 T A 15: 100,183,117 (GRCm39) M153K probably benign Het
Tmprss9 G A 10: 80,725,268 (GRCm39) G410S probably damaging Het
Trpm6 T A 19: 18,803,116 (GRCm39) M853K probably damaging Het
Vmn1r35 A G 6: 66,655,929 (GRCm39) I247T possibly damaging Het
Zcchc7 C A 4: 44,931,059 (GRCm39) P404T probably damaging Het
Zzef1 T C 11: 72,763,465 (GRCm39) F1371L probably benign Het
Other mutations in Capn7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00428:Capn7 APN 14 31,085,535 (GRCm39) missense probably benign 0.41
IGL01481:Capn7 APN 14 31,077,296 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- TAGCTAAAAGGCTGGGAAGCTATTG -3'
(R):5'- CAGGATAGCATGGCACTGTC -3'

Sequencing Primer
(F):5'- GCCTTGTAGGACAACATCA -3'
(R):5'- TGGCACTGTCCTAAAGTGAC -3'
Posted On 2014-09-18