Incidental Mutation 'R7775:Capn7'
ID 598849
Institutional Source Beutler Lab
Gene Symbol Capn7
Ensembl Gene ENSMUSG00000021893
Gene Name calpain 7
Synonyms PalBH
MMRRC Submission 045831-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.818) question?
Stock # R7775 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 31058595-31093943 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 31074367 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 257 (T257A)
Ref Sequence ENSEMBL: ENSMUSP00000022451 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022451] [ENSMUST00000143472] [ENSMUST00000152182]
AlphaFold Q9R1S8
Predicted Effect probably benign
Transcript: ENSMUST00000022451
AA Change: T257A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000022451
Gene: ENSMUSG00000021893
AA Change: T257A

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
AA Change: T257A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000118596
Gene: ENSMUSG00000021893
AA Change: T257A

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
AA Change: T257A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000119214
Gene: ENSMUSG00000021893
AA Change: T257A

DomainStartEndE-ValueType
MIT 3 77 1.54e0 SMART
MIT 83 160 1.07e-17 SMART
CysPc 218 500 2.32e-50 SMART
Meta Mutation Damage Score 0.0593 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (64/64)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap35 T C 7: 16,296,573 (GRCm39) K831E probably benign Het
Arpc1a C T 5: 145,041,622 (GRCm39) R302C probably benign Het
Asb5 A C 8: 55,037,827 (GRCm39) H173P Het
Atp6v0a2 A G 5: 124,779,443 (GRCm39) E186G probably damaging Het
Bbs2 A T 8: 94,816,388 (GRCm39) probably null Het
Car4 T C 11: 84,856,449 (GRCm39) S246P probably damaging Het
Chrm5 A G 2: 112,310,301 (GRCm39) S272P probably benign Het
Chrna6 T C 8: 27,897,392 (GRCm39) I162V probably damaging Het
Chst12 T A 5: 140,509,376 (GRCm39) M1K probably null Het
Cldn6 T A 17: 23,900,581 (GRCm39) C182S probably damaging Het
Coro6 T G 11: 77,356,599 (GRCm39) D102E probably benign Het
Cysltr2 A G 14: 73,267,203 (GRCm39) I169T probably benign Het
Dtx4 G T 19: 12,469,374 (GRCm39) P251Q probably benign Het
Dyrk3 C T 1: 131,057,364 (GRCm39) V270I possibly damaging Het
Efhc1 A T 1: 21,049,685 (GRCm39) Y515F probably damaging Het
Ep300 T C 15: 81,470,887 (GRCm39) S20P unknown Het
Fmnl2 C T 2: 52,963,692 (GRCm39) L275F unknown Het
Fstl4 C T 11: 53,067,798 (GRCm39) Q554* probably null Het
Gal3st2b G T 1: 93,868,506 (GRCm39) D246Y probably damaging Het
Gkap1 A T 13: 58,398,966 (GRCm39) D188E probably benign Het
Gm14226 T A 2: 154,866,630 (GRCm39) C196S possibly damaging Het
Gm8297 A G 14: 16,167,939 (GRCm39) N193S possibly damaging Het
Grm8 T C 6: 27,363,671 (GRCm39) R615G possibly damaging Het
Ing1 A G 8: 11,611,814 (GRCm39) E178G probably benign Het
Kansl3 A T 1: 36,387,758 (GRCm39) L530H probably damaging Het
Kcna5 A T 6: 126,511,768 (GRCm39) L120* probably null Het
Kif26b T A 1: 178,692,441 (GRCm39) S461T probably benign Het
L3mbtl3 A T 10: 26,228,215 (GRCm39) V15E unknown Het
Lama4 A T 10: 38,954,843 (GRCm39) H1132L probably damaging Het
Ldlrad4 G T 18: 68,368,740 (GRCm39) A66S possibly damaging Het
Ldlrad4 T C 18: 68,368,827 (GRCm39) S95P probably damaging Het
Liph G T 16: 21,777,664 (GRCm39) L379I probably damaging Het
Lrp2 T A 2: 69,331,883 (GRCm39) E1624V possibly damaging Het
Matn2 A T 15: 34,399,223 (GRCm39) H370L possibly damaging Het
Mettl23 T G 11: 116,740,096 (GRCm39) V189G probably benign Het
Mpp4 G A 1: 59,162,672 (GRCm39) T543M not run Het
Mrps15 A T 4: 125,945,170 (GRCm39) N119I probably damaging Het
Or10d4 C A 9: 39,580,534 (GRCm39) F60L possibly damaging Het
Or5ac21 A T 16: 59,123,614 (GRCm39) I33F probably damaging Het
Or7d9 A G 9: 20,193,708 (GRCm39) probably benign Het
Or8b36 T A 9: 37,937,963 (GRCm39) I287N probably damaging Het
Or8g21 T A 9: 38,906,203 (GRCm39) H176L probably damaging Het
Pax8 A G 2: 24,325,913 (GRCm39) S324P possibly damaging Het
Pcdha11 A T 18: 37,145,733 (GRCm39) Y608F possibly damaging Het
Pcdhga5 A G 18: 37,828,578 (GRCm39) D342G probably damaging Het
Pde6d A G 1: 86,471,250 (GRCm39) S143P probably damaging Het
Plau A G 14: 20,892,393 (GRCm39) S393G probably benign Het
Plec A T 15: 76,061,135 (GRCm39) I2934N probably damaging Het
Primpol G T 8: 47,039,459 (GRCm39) P387Q probably damaging Het
Prph2 T C 17: 47,221,732 (GRCm39) L37S possibly damaging Het
Prrt4 A G 6: 29,177,718 (GRCm39) L17P probably damaging Het
Pycr3 T C 15: 75,790,138 (GRCm39) D171G probably damaging Het
Rapgefl1 A G 11: 98,741,980 (GRCm39) N648S probably damaging Het
Rapsn A G 2: 90,875,293 (GRCm39) T359A probably benign Het
Sap25 C T 5: 137,640,186 (GRCm39) R66W probably benign Het
Setd6 A T 8: 96,442,866 (GRCm39) H101L probably benign Het
Slc22a3 G T 17: 12,683,350 (GRCm39) A171E probably damaging Het
Tbc1d2 C T 4: 46,637,746 (GRCm39) probably null Het
Tfap2b G A 1: 19,304,531 (GRCm39) G447D probably damaging Het
Txndc2 A G 17: 65,945,238 (GRCm39) V313A probably benign Het
Uevld A T 7: 46,576,100 (GRCm39) I462N probably damaging Het
Vmn2r120 T C 17: 57,832,942 (GRCm39) Y79C probably damaging Het
Vwa8 T C 14: 79,275,587 (GRCm39) V790A probably benign Het
Zfp936 A G 7: 42,839,720 (GRCm39) T396A possibly damaging 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
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
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'- ATGTGTAAAGAGCCAGATTTGACTG -3'
(R):5'- CGAAGGATGAGACATGTTTGC -3'

Sequencing Primer
(F):5'- GATTTGACTGGCTATTTTAGGAAGAC -3'
(R):5'- GACATGTTTGCAATTATACCCATGC -3'
Posted On 2019-11-26