Incidental Mutation 'R7908:Capn7'
ID 610309
Institutional Source Beutler Lab
Gene Symbol Capn7
Ensembl Gene ENSMUSG00000021893
Gene Name calpain 7
Synonyms PalBH
Accession Numbers
Essential gene? Probably essential (E-score: 0.818) question?
Stock # R7908 (G1)
Quality Score 225.009
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 31088202 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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A4galt A G 15: 83,112,577 (GRCm39) F69L probably benign Het
Acsf3 A G 8: 123,512,562 (GRCm39) M328V probably damaging Het
Adam10 T G 9: 70,669,046 (GRCm39) V454G possibly damaging Het
Adamts15 T C 9: 30,813,522 (GRCm39) D881G probably benign Het
Adamtsl1 T C 4: 86,274,676 (GRCm39) V1244A probably benign Het
Ankfn1 G A 11: 89,296,360 (GRCm39) P123L probably damaging Het
Aox1 T C 1: 58,145,227 (GRCm39) I1331T possibly damaging Het
Atg14 T A 14: 47,806,050 (GRCm39) probably benign Het
Bmal1 A T 7: 112,912,680 (GRCm39) I579L probably benign Het
Btnl4 A G 17: 34,692,161 (GRCm39) M147T possibly damaging Het
Camk1g T C 1: 193,042,082 (GRCm39) K56E probably damaging Het
Cbln1 T A 8: 88,198,724 (GRCm39) T49S probably benign Het
Cc2d2a T C 5: 43,864,188 (GRCm39) V763A probably benign Het
Cdc40 A G 10: 40,724,042 (GRCm39) Y249H probably damaging Het
Cfap61 T A 2: 145,944,019 (GRCm39) L762H probably damaging Het
Cfap68 T A 9: 50,675,248 (GRCm39) T153S possibly damaging Het
Cfap73 T C 5: 120,768,123 (GRCm39) T212A probably benign Het
Cfi A G 3: 129,642,233 (GRCm39) E29G probably benign Het
Chmp6 A T 11: 119,804,656 (GRCm39) probably benign Het
Clec14a T C 12: 58,314,465 (GRCm39) T386A possibly damaging Het
Coq6 T A 12: 84,417,940 (GRCm39) L268H probably damaging Het
Cpt1a T C 19: 3,412,202 (GRCm39) S225P probably benign Het
Dhx58 C A 11: 100,586,130 (GRCm39) L630F probably damaging Het
Dlg2 T A 7: 91,549,981 (GRCm39) V158E probably damaging Het
Fcgbpl1 A T 7: 27,846,921 (GRCm39) Y1168F probably benign Het
Foxd3 A G 4: 99,545,576 (GRCm39) T239A probably benign Het
Galnt6 T C 15: 100,601,242 (GRCm39) T346A probably damaging Het
Guca1b C G 17: 47,702,102 (GRCm39) T185S unknown Het
H2-M5 T C 17: 37,298,571 (GRCm39) T292A probably benign Het
Hlx T C 1: 184,459,773 (GRCm39) H455R probably benign Het
Hydin A G 8: 111,237,499 (GRCm39) Y1924C probably benign Het
Ighg2b C T 12: 113,270,074 (GRCm39) V315M Het
Ildr2 A G 1: 166,135,369 (GRCm39) K374E probably damaging Het
Jmjd1c T C 10: 67,061,621 (GRCm39) S1144P probably benign Het
Kcnj8 T C 6: 142,511,755 (GRCm39) D284G probably benign Het
Kri1 TTCCTCCTCCTCCTCCTCCTCCTCCTCCTC TTCCTCCTCCTCCTCCTCCTCCTCCTC 9: 21,192,352 (GRCm39) probably benign Het
Lingo4 A G 3: 94,309,541 (GRCm39) T160A probably benign Het
Lmod3 G T 6: 97,225,434 (GRCm39) A129E probably benign Het
Lrrk2 T C 15: 91,610,355 (GRCm39) C696R probably damaging Het
Mc2r A G 18: 68,541,036 (GRCm39) F86L probably benign Het
Mppe1 T G 18: 67,362,055 (GRCm39) K170T probably benign Het
Mtcl1 A G 17: 66,678,325 (GRCm39) I667T possibly damaging Het
Mtnr1a A T 8: 45,540,863 (GRCm39) I275F probably benign Het
Myh2 A G 11: 67,088,197 (GRCm39) I1938V probably benign Het
Npsr1 A T 9: 24,201,096 (GRCm39) E160V probably damaging Het
Or13c7b T A 4: 43,821,086 (GRCm39) I92F probably damaging Het
Or5ac23 C T 16: 59,149,606 (GRCm39) D89N possibly damaging Het
Or6c3 T A 10: 129,308,867 (GRCm39) I102N probably damaging Het
Ovch2 T A 7: 107,388,326 (GRCm39) Y418F probably damaging Het
Pak5 A G 2: 135,958,479 (GRCm39) L203S probably benign Het
Pcdh15 A T 10: 74,479,414 (GRCm39) E508D probably benign Het
Prl7a1 T C 13: 27,826,433 (GRCm39) M1V probably null Het
Prorp A T 12: 55,426,250 (GRCm39) K533N possibly damaging Het
Prpsap2 G T 11: 61,647,098 (GRCm39) N14K possibly damaging Het
Rad54b T A 4: 11,595,868 (GRCm39) V215E probably null Het
Ryr2 G A 13: 11,807,634 (GRCm39) T845I probably benign Het
Scgb2b3 G A 7: 31,061,439 (GRCm39) T20I probably damaging Het
Serpina1b T C 12: 103,694,566 (GRCm39) I393V possibly damaging Het
Slc13a5 T C 11: 72,149,890 (GRCm39) M207V probably benign Het
Slc49a3 T C 5: 108,592,363 (GRCm39) I276V probably benign Het
Smg1 A T 7: 117,785,357 (GRCm39) L843M unknown Het
Sp100 T C 1: 85,635,788 (GRCm39) V531A possibly damaging Het
Srsf6 T C 2: 162,775,760 (GRCm39) S190P unknown Het
Stil A G 4: 114,889,896 (GRCm39) K795E possibly damaging Het
Sugp2 A G 8: 70,704,577 (GRCm39) R705G probably benign Het
Tnfrsf11a T A 1: 105,737,099 (GRCm39) C69S probably damaging Het
Trim30a A T 7: 104,070,656 (GRCm39) N252K probably benign Het
Tshz1 T A 18: 84,032,732 (GRCm39) K559* probably null Het
Ttbk1 C T 17: 46,789,864 (GRCm39) R133H probably damaging Het
Vmn1r1 T C 1: 181,984,915 (GRCm39) Y250C probably benign Het
Vmn2r12 A G 5: 109,234,307 (GRCm39) L635P probably damaging Het
Vmn2r52 C A 7: 9,896,877 (GRCm39) V532L probably benign Het
Vwa5b1 A T 4: 138,296,481 (GRCm39) L1182* probably null Het
Washc2 A G 6: 116,225,106 (GRCm39) D818G probably benign Het
Xylb T G 9: 119,210,611 (GRCm39) S365A probably benign Het
Zcchc8 T C 5: 123,858,783 (GRCm39) probably benign Het
Zdbf2 T C 1: 63,345,986 (GRCm39) I1455T 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
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
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'- GCTGAGGTGCTCTTGAAAATTAG -3'
(R):5'- ATCAGACCATGTCATTTTACCTCTG -3'

Sequencing Primer
(F):5'- ACCACTGTGGATTCTCTG -3'
(R):5'- TGATGCTTTATAAACCTTGGCAC -3'
Posted On 2019-12-20