Incidental Mutation 'R8176:Capn7'
ID 634367
Institutional Source Beutler Lab
Gene Symbol Capn7
Ensembl Gene ENSMUSG00000021893
Gene Name calpain 7
Synonyms PalBH
MMRRC Submission 067601-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.818) question?
Stock # R8176 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 31058595-31093943 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 31069729 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 184 (F184L)
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: F184L

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000022451
Gene: ENSMUSG00000021893
AA Change: F184L

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: F184L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000118596
Gene: ENSMUSG00000021893
AA Change: F184L

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: F184L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000119214
Gene: ENSMUSG00000021893
AA Change: F184L

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: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (59/59)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6030469F06Rik T A 12: 31,235,135 (GRCm39) F172I noncoding transcript Het
Aatk A G 11: 119,907,241 (GRCm39) V154A probably damaging Het
Abca6 A C 11: 110,135,020 (GRCm39) V255G probably benign Het
Adam8 T C 7: 139,568,786 (GRCm39) K211E probably benign Het
Alg12 A G 15: 88,690,084 (GRCm39) V470A possibly damaging Het
Anks1b C A 10: 89,905,353 (GRCm39) H231Q probably damaging Het
Bcl2 T C 1: 106,640,528 (GRCm39) Y28C probably damaging Het
Bms1 G T 6: 118,395,411 (GRCm39) F45L probably damaging Het
Btd T A 14: 31,384,073 (GRCm39) F20I probably benign Het
C1rl T C 6: 124,470,844 (GRCm39) S51P probably benign Het
Cd300lg A T 11: 101,932,390 (GRCm39) probably benign Het
Cdc34 T C 10: 79,518,362 (GRCm39) Y39H probably damaging Het
Cenpe A G 3: 134,935,851 (GRCm39) K429E probably damaging Het
Cfap43 T C 19: 47,784,114 (GRCm39) N473S probably benign Het
Cntln C T 4: 84,806,926 (GRCm39) T136I probably damaging Het
Cyfip1 A T 7: 55,574,175 (GRCm39) L1032F probably benign Het
Dach1 C T 14: 98,153,916 (GRCm39) V392I probably benign Het
Dnah14 C T 1: 181,484,598 (GRCm39) S1590L probably damaging Het
Dsp T C 13: 38,376,786 (GRCm39) Y1524H possibly damaging Het
Dusp13b T C 14: 21,797,549 (GRCm39) I103V possibly damaging Het
Eeig1 A G 2: 32,453,624 (GRCm39) T158A probably benign Het
Efhb T C 17: 53,707,874 (GRCm39) Y763C probably damaging Het
Fam117a G T 11: 95,227,965 (GRCm39) R25L unknown Het
Fcgbp T C 7: 27,791,174 (GRCm39) S812P possibly damaging Het
Fgd5 T A 6: 91,964,965 (GRCm39) N399K probably benign Het
Foxi3 T A 6: 70,934,017 (GRCm39) I168N probably damaging Het
Frem2 A T 3: 53,562,761 (GRCm39) I582K possibly damaging Het
Gm21915 T A 9: 40,582,266 (GRCm39) S120T probably benign Het
Gtf3c5 A G 2: 28,460,429 (GRCm39) probably null Het
Hecw1 A T 13: 14,422,286 (GRCm39) probably null Het
Hsf2 T A 10: 57,381,290 (GRCm39) Y293* probably null Het
Ints10 T A 8: 69,255,603 (GRCm39) Y198N probably damaging Het
Iqgap3 A G 3: 88,001,957 (GRCm39) E399G probably damaging Het
Itsn1 T A 16: 91,645,597 (GRCm39) probably null Het
Kcnh8 T C 17: 53,285,122 (GRCm39) S1031P probably damaging Het
Llgl1 A G 11: 60,597,387 (GRCm39) T279A probably benign Het
Ly6a C T 15: 74,868,300 (GRCm39) probably null Het
Marchf4 T C 1: 72,573,998 (GRCm39) E100G probably damaging Het
Mta1 A G 12: 113,084,456 (GRCm39) E84G probably benign Het
Myh7b A G 2: 155,467,886 (GRCm39) Y808C probably benign Het
Ncoa1 A G 12: 4,317,858 (GRCm39) V1158A possibly damaging Het
Npepps A G 11: 97,126,977 (GRCm39) S428P probably damaging Het
Onecut2 A T 18: 64,473,931 (GRCm39) T161S possibly damaging Het
Or10j27 C T 1: 172,958,383 (GRCm39) V134I probably benign Het
Or52e19b G A 7: 103,033,071 (GRCm39) T46I probably benign Het
Or6c5 T G 10: 129,074,747 (GRCm39) M243R probably benign Het
Pdp2 A G 8: 105,321,687 (GRCm39) D512G probably damaging Het
Pex11b G T 3: 96,551,027 (GRCm39) V171L probably benign Het
Potefam2 T C 7: 62,432,783 (GRCm39) probably null Het
Ppil3 A T 1: 58,480,078 (GRCm39) C32* probably null Het
Prune2 T C 19: 17,095,656 (GRCm39) Y387H probably damaging Het
Rbp3 C A 14: 33,677,605 (GRCm39) H518N possibly damaging Het
Rhot2 T C 17: 26,063,068 (GRCm39) Y58C probably damaging Het
Sec16b C A 1: 157,362,981 (GRCm39) H271N probably damaging Het
Sgo2a A G 1: 58,056,252 (GRCm39) D812G possibly damaging Het
Skap2 T C 6: 51,884,878 (GRCm39) E261G probably damaging Het
Spata31d1b A G 13: 59,865,117 (GRCm39) N755S probably benign Het
Stat5a T A 11: 100,767,689 (GRCm39) M419K probably damaging Het
Tecta C T 9: 42,270,465 (GRCm39) C1281Y probably damaging Het
Tm9sf2 T G 14: 122,374,913 (GRCm39) S196R probably benign Het
Trpm8 A T 1: 88,292,837 (GRCm39) H946L 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
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
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'- GGATGCATTGCTAACTGGCAG -3'
(R):5'- CAGCTCTGCAGAGTACATGTC -3'

Sequencing Primer
(F):5'- TATGCAGCAAGTTTGAGCCC -3'
(R):5'- CTGCAGAGTACATGTCTAGGATTAG -3'
Posted On 2020-07-13