Incidental Mutation 'R7124:Capn7'
ID 568452
Institutional Source Beutler Lab
Gene Symbol Capn7
Ensembl Gene ENSMUSG00000021893
Gene Name calpain 7
Synonyms PalBH
MMRRC Submission 045212-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.818) question?
Stock # R7124 (G1)
Quality Score 76.0075
Status Validated
Chromosome 14
Chromosomal Location 31058595-31093943 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) C to T at 31058642 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000119214 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022451] [ENSMUST00000143472] [ENSMUST00000152182]
AlphaFold Q9R1S8
Predicted Effect probably benign
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: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 97% (72/74)
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700006A11Rik A C 3: 124,208,042 (GRCm39) S212R probably benign Het
4930562C15Rik T C 16: 4,682,196 (GRCm39) S170P probably benign Het
9330182O14Rik G A 15: 40,008,303 (GRCm39) C59Y unknown Het
AA986860 A G 1: 130,670,624 (GRCm39) E282G possibly damaging Het
Adam1a G T 5: 121,657,397 (GRCm39) T632K probably benign Het
Aspg G T 12: 112,089,417 (GRCm39) A402S probably damaging Het
Card9 C T 2: 26,246,896 (GRCm39) probably null Het
Cdh13 T C 8: 119,694,912 (GRCm39) V254A probably damaging Het
Colec10 T C 15: 54,325,767 (GRCm39) V199A probably damaging Het
Copb2 T C 9: 98,459,106 (GRCm39) S283P probably damaging Het
Csmd1 G T 8: 15,953,202 (GRCm39) S3426R probably damaging Het
Cyp4f14 A G 17: 33,133,562 (GRCm39) V98A probably benign Het
Disp1 C A 1: 182,869,030 (GRCm39) R1130L probably damaging Het
Dysf A G 6: 84,167,883 (GRCm39) probably null Het
Efcab3 T C 11: 104,629,100 (GRCm39) F926S probably benign Het
Eif4ebp1 T C 8: 27,763,447 (GRCm39) V80A probably damaging Het
Eloa T A 4: 135,736,452 (GRCm39) I565F probably damaging Het
Espn G T 4: 152,215,721 (GRCm39) H513N probably benign Het
Fam83c C T 2: 155,671,491 (GRCm39) S648N probably benign Het
Fdxr C T 11: 115,160,403 (GRCm39) V351M probably benign Het
Fras1 A T 5: 96,862,260 (GRCm39) D2213V probably damaging Het
Gbp4 T A 5: 105,267,825 (GRCm39) I474F possibly damaging Het
Golgb1 T C 16: 36,734,035 (GRCm39) V1135A probably benign Het
Gpt2 G A 8: 86,244,681 (GRCm39) E325K probably benign Het
Hipk2 A T 6: 38,795,413 (GRCm39) Y285* probably null Het
Ifi27l2b T C 12: 103,417,579 (GRCm39) I203V probably damaging Het
Itga10 T A 3: 96,559,081 (GRCm39) M390K probably damaging Het
Itgb8 G T 12: 119,166,159 (GRCm39) S124* probably null Het
Klhdc10 T A 6: 30,441,826 (GRCm39) F173I probably damaging Het
Kng2 T G 16: 22,830,805 (GRCm39) N168T probably damaging Het
Krtap24-1 T C 16: 88,408,434 (GRCm39) T231A probably damaging Het
Lbx2 A T 6: 83,065,045 (GRCm39) D194V probably damaging Het
Lrrc39 C A 3: 116,359,562 (GRCm39) Q36K probably benign Het
Madd T C 2: 90,992,393 (GRCm39) E1093G possibly damaging Het
Mfap3l A G 8: 61,124,303 (GRCm39) T182A probably damaging Het
Myo9b T A 8: 71,786,345 (GRCm39) Y670* probably null Het
Nbea A G 3: 55,899,865 (GRCm39) L1428P probably damaging Het
Nkx2-3 T C 19: 43,603,245 (GRCm39) Y284H possibly damaging Het
Nphp4 A G 4: 152,640,141 (GRCm39) D1009G probably benign Het
Npy2r G A 3: 82,448,490 (GRCm39) A95V probably damaging Het
Nuggc A G 14: 65,846,251 (GRCm39) E70G probably damaging Het
Or5ap2 T C 2: 85,680,254 (GRCm39) S153P probably benign Het
Or5m11 T A 2: 85,781,817 (GRCm39) S137T possibly damaging Het
Palld A T 8: 61,969,679 (GRCm39) V1215D unknown Het
Pard6g T C 18: 80,160,340 (GRCm39) I151T possibly damaging Het
Parp12 T C 6: 39,088,670 (GRCm39) I189V probably benign Het
Parp4 A G 14: 56,840,256 (GRCm39) I554V probably benign Het
Pcnx2 G A 8: 126,480,356 (GRCm39) P1984S probably damaging Het
Piwil4 T C 9: 14,648,196 (GRCm39) M128V probably benign Het
Polr2a C A 11: 69,628,288 (GRCm39) E1302* probably null Het
Psg17 C A 7: 18,548,421 (GRCm39) G450V probably damaging Het
Psg17 C G 7: 18,548,422 (GRCm39) G450R probably damaging Het
Rag1 T C 2: 101,474,128 (GRCm39) E338G probably damaging Het
Rev3l A T 10: 39,698,163 (GRCm39) K887* probably null Het
Rragd T C 4: 32,996,027 (GRCm39) F124S possibly damaging Het
Scube1 A T 15: 83,513,712 (GRCm39) probably null Het
Sfpq A T 4: 126,919,725 (GRCm39) D490V possibly damaging Het
Smc1b G T 15: 84,955,798 (GRCm39) Q1034K probably damaging Het
Smg7 T C 1: 152,753,831 (GRCm39) N5S probably benign Het
Spata31d1a A C 13: 59,850,301 (GRCm39) L609R probably damaging Het
Ssh2 A G 11: 77,345,164 (GRCm39) K1050E probably benign Het
Stab1 G A 14: 30,882,824 (GRCm39) T393I possibly damaging Het
Sult2a4 C T 7: 13,722,320 (GRCm39) W49* probably null Het
Thrap3 A T 4: 126,074,231 (GRCm39) S172T unknown Het
Tmem130 A G 5: 144,687,721 (GRCm39) V205A probably damaging Het
Ube2d2b A G 5: 107,978,717 (GRCm39) I123V probably benign Het
Unc79 G T 12: 103,027,652 (GRCm39) L414F probably damaging Het
Vmn2r30 C T 7: 7,337,183 (GRCm39) S151N probably benign Het
Vmn2r54 T A 7: 12,356,078 (GRCm39) T443S probably benign Het
Zfp229 T A 17: 21,961,597 (GRCm39) S51T probably damaging Het
Zfp617 T C 8: 72,686,384 (GRCm39) L238P probably damaging Het
Zfp707 T A 15: 75,845,398 (GRCm39) C87* probably null Het
Zfp853 T C 5: 143,275,362 (GRCm39) K101R unknown 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
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'- TCCAATCCCACTGGACATTG -3'
(R):5'- GTAGTAAAACACCGCCTCAGAG -3'

Sequencing Primer
(F):5'- AATCCCACTGGACATTGTTCTGG -3'
(R):5'- TCAGAGTAGCGGCCTTCGTG -3'
Posted On 2019-07-31