Incidental Mutation 'R5460:Capn7'
ID 432988
Institutional Source Beutler Lab
Gene Symbol Capn7
Ensembl Gene ENSMUSG00000021893
Gene Name calpain 7
Synonyms PalBH
MMRRC Submission 042849-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.818) question?
Stock # R5460 (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 C at 31090160 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000022451 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022451] [ENSMUST00000140002] [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: 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 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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228237
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 96.0%
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actbl2 T A 13: 111,392,238 (GRCm39) M191K probably benign Het
Actn1 T C 12: 80,230,342 (GRCm39) N304S probably benign Het
Acyp2 C T 11: 30,456,354 (GRCm39) E98K possibly damaging Het
Adamtsl2 T A 2: 26,985,410 (GRCm39) probably null Het
Adgrv1 T C 13: 81,572,377 (GRCm39) E4928G possibly damaging Het
Alms1 T A 6: 85,673,713 (GRCm39) C3103S probably benign Het
Appl2 T A 10: 83,438,696 (GRCm39) I578F probably benign Het
Atp10b T C 11: 43,121,282 (GRCm39) S982P probably benign Het
Brd10 G T 19: 29,732,250 (GRCm39) P254Q probably damaging Het
Cd200r3 A G 16: 44,778,093 (GRCm39) T166A possibly damaging Het
Dctn6 C T 8: 34,572,135 (GRCm39) probably null Het
Duxf4 G A 10: 58,071,717 (GRCm39) H166Y possibly damaging Het
Fam114a1 T A 5: 65,185,776 (GRCm39) F366I probably damaging Het
Fam98b A T 2: 117,089,737 (GRCm39) S85C probably damaging Het
Fat3 T A 9: 15,830,463 (GRCm39) N4344Y probably damaging Het
Fhl3 T G 4: 124,599,796 (GRCm39) C92W probably damaging Het
Flrt1 T C 19: 7,073,105 (GRCm39) T481A probably damaging Het
Gng2 G T 14: 19,941,426 (GRCm39) N5K probably benign Het
Iqcm A T 8: 76,441,417 (GRCm39) D230V probably benign Het
Limk2 T C 11: 3,302,332 (GRCm39) I176V probably benign Het
Lrrk2 T A 15: 91,698,847 (GRCm39) probably null Het
Maml1 T C 11: 50,157,180 (GRCm39) T332A probably benign Het
Matcap2 T C 9: 22,351,216 (GRCm39) F453L probably benign Het
Mbd1 T C 18: 74,402,581 (GRCm39) F28L probably benign Het
Morf4l1 G A 9: 89,977,183 (GRCm39) T246I probably benign Het
Mtres1 T C 10: 43,408,861 (GRCm39) K94R probably benign Het
Naa12 C T 18: 80,255,138 (GRCm39) A144V probably damaging Het
Ndufaf1 T G 2: 119,490,958 (GRCm39) D34A probably benign Het
Or4a77 T A 2: 89,487,414 (GRCm39) I124F probably damaging Het
Or4c114 C T 2: 88,905,208 (GRCm39) V76I probably benign Het
Patl1 C T 19: 11,913,082 (GRCm39) R542C possibly damaging Het
Pcdha2 T C 18: 37,072,474 (GRCm39) V35A probably damaging Het
Phf11b G A 14: 59,568,713 (GRCm39) P67S probably benign Het
Plxnd1 T C 6: 115,934,609 (GRCm39) I1775V probably damaging Het
Ryr1 T A 7: 28,771,386 (GRCm39) T2552S probably damaging Het
Scai A T 2: 38,973,585 (GRCm39) L52H probably damaging Het
Scai G C 2: 38,973,586 (GRCm39) L52V probably damaging Het
Stag1 A T 9: 100,838,506 (GRCm39) probably null Het
Tgs1 A G 4: 3,586,170 (GRCm39) K349R probably benign Het
Tpbgl T C 7: 99,274,961 (GRCm39) I299V probably benign Het
Ttc3 A G 16: 94,258,241 (GRCm39) T1325A probably benign Het
Ubxn11 A T 4: 133,852,396 (GRCm39) E210D probably damaging Het
Unc13c T C 9: 73,453,271 (GRCm39) I1840V probably benign Het
Zfp74 A T 7: 29,635,316 (GRCm39) F131I 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
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'- TCTGTAAACATGATATCTGTGCAGC -3'
(R):5'- CCACCATCATGCCCTATTGAAAATTG -3'

Sequencing Primer
(F):5'- ACATGATATCTGTGCAGCTGACC -3'
(R):5'- TGGCACTCCAGAAGTTGAGGTC -3'
Posted On 2016-10-06