Incidental Mutation 'R4409:Capn7'
ID 327822
Institutional Source Beutler Lab
Gene Symbol Capn7
Ensembl Gene ENSMUSG00000021893
Gene Name calpain 7
Synonyms PalBH
MMRRC Submission 041691-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.818) question?
Stock # R4409 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 31058595-31093943 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 31077296 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 338 (L338P)
Ref Sequence ENSEMBL: ENSMUSP00000119214 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022451] [ENSMUST00000140002] [ENSMUST00000143472] [ENSMUST00000152182]
AlphaFold Q9R1S8
Predicted Effect probably damaging
Transcript: ENSMUST00000022451
AA Change: L338P

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000022451
Gene: ENSMUSG00000021893
AA Change: L338P

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 damaging
Transcript: ENSMUST00000143472
AA Change: L338P

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000118596
Gene: ENSMUSG00000021893
AA Change: L338P

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 damaging
Transcript: ENSMUST00000152182
AA Change: L338P

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000119214
Gene: ENSMUSG00000021893
AA Change: L338P

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: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.4%
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AAdacl4fm3 A T 4: 144,447,872 (GRCm39) S35T possibly damaging Het
Abcb5 A C 12: 118,836,657 (GRCm39) L1085V probably damaging Het
Adgrf5 T C 17: 43,752,738 (GRCm39) V560A probably damaging Het
Ambp C A 4: 63,070,884 (GRCm39) S65I probably damaging Het
Ash1l A G 3: 88,914,506 (GRCm39) D1712G probably damaging Het
Car2 T A 3: 14,960,162 (GRCm39) S105T probably damaging Het
Casr A G 16: 36,320,703 (GRCm39) C482R probably benign Het
Ccdc18 C T 5: 108,368,708 (GRCm39) Q1277* probably null Het
Clca3a1 A G 3: 144,711,788 (GRCm39) F736L probably damaging Het
Col6a1 T C 10: 76,557,334 (GRCm39) H206R probably benign Het
Crybg1 C T 10: 43,874,754 (GRCm39) A785T possibly damaging Het
Cyp2c68 T A 19: 39,727,896 (GRCm39) E85D probably damaging Het
Dnah9 T C 11: 65,976,303 (GRCm39) S1249G possibly damaging Het
E2f1 C G 2: 154,405,942 (GRCm39) G144R probably damaging Het
Fbxw24 A T 9: 109,437,256 (GRCm39) D210E probably damaging Het
Fcgr1 T C 3: 96,191,893 (GRCm39) Y305C probably benign Het
Gm10226 G T 17: 21,910,876 (GRCm39) C37F possibly damaging Het
Greb1l A G 18: 10,503,182 (GRCm39) Y411C possibly damaging Het
Grin1 T C 2: 25,200,451 (GRCm39) N224D possibly damaging Het
H2-T5 T A 17: 36,476,742 (GRCm39) H244L possibly damaging Het
Ighmbp2 C T 19: 3,321,536 (GRCm39) V408I probably benign Het
Il1rap G A 16: 26,531,015 (GRCm39) probably null Het
Iqcg A G 16: 32,865,888 (GRCm39) probably null Het
Klhdc3 C T 17: 46,987,944 (GRCm39) G249E probably damaging Het
Lct T C 1: 128,231,963 (GRCm39) M629V probably damaging Het
Macrod2 T G 2: 140,260,777 (GRCm39) H68Q possibly damaging Het
Morn4 T C 19: 42,066,986 (GRCm39) T2A possibly damaging Het
Msc G C 1: 14,825,902 (GRCm39) P24R probably damaging Het
Msh5 T C 17: 35,258,226 (GRCm39) D300G probably damaging Het
Myo10 A G 15: 25,807,955 (GRCm39) Y1859C probably damaging Het
Nacc1 A G 8: 85,399,673 (GRCm39) *515Q probably null Het
Or1ad6 T A 11: 50,860,223 (GRCm39) I126N probably damaging Het
Or4n5 T A 14: 50,133,230 (GRCm39) T10S probably benign Het
Or5g29 T C 2: 85,421,274 (GRCm39) L130S probably damaging Het
Oxgr1 C T 14: 120,259,572 (GRCm39) V212M possibly damaging Het
P3h2 G C 16: 25,924,040 (GRCm39) R132G possibly damaging Het
Pcdha9 T A 18: 37,132,198 (GRCm39) H422Q probably benign Het
Pcdhga12 A G 18: 37,901,138 (GRCm39) T657A probably damaging Het
Pcx A G 19: 4,660,031 (GRCm39) K442R possibly damaging Het
Pkd2 T C 5: 104,614,750 (GRCm39) silent Het
Plg T G 17: 12,609,150 (GRCm39) C152G probably damaging Het
Plk4 A G 3: 40,760,984 (GRCm39) E438G probably damaging Het
Ryr3 A G 2: 112,560,653 (GRCm39) L3016P probably damaging Het
Sdccag8 T G 1: 176,695,932 (GRCm39) probably null Het
Slc24a1 A T 9: 64,855,506 (GRCm39) M467K probably benign Het
Sorl1 T G 9: 41,946,744 (GRCm39) I856L probably damaging Het
Spag7 T C 11: 70,555,688 (GRCm39) D83G probably damaging Het
Tmem59l A G 8: 70,939,951 (GRCm39) L6S unknown Het
Tmprss11b T C 5: 86,812,137 (GRCm39) N170S probably benign Het
Tnfrsf1b G A 4: 144,950,855 (GRCm39) Q253* probably null Het
Trim12a G A 7: 103,956,201 (GRCm39) A113V probably benign Het
Ttn A G 2: 76,727,987 (GRCm39) probably benign Het
Vmn1r213 A C 13: 23,195,593 (GRCm39) probably benign Het
Vmn1r54 C A 6: 90,246,864 (GRCm39) Y259* probably null Het
Vmn1r55 A G 7: 5,150,075 (GRCm39) V116A probably benign Het
Vmn2r120 T C 17: 57,816,477 (GRCm39) N626S probably damaging Het
Vmn2r58 A G 7: 41,522,051 (GRCm39) F15S possibly damaging Het
Vmn2r73 A T 7: 85,520,768 (GRCm39) V400E probably damaging Het
Zbtb39 A G 10: 127,578,696 (GRCm39) I423M possibly damaging Het
Zfp352 A G 4: 90,113,401 (GRCm39) N514D probably benign Het
Zfp451 A T 1: 33,816,494 (GRCm39) H485Q probably 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
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
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'- TTTCAGGCCAACCTCAGTAC -3'
(R):5'- GTTTGGGCAAAACAATGAAACC -3'

Sequencing Primer
(F):5'- TTCAGGCCAACCTCAGTACATATTG -3'
(R):5'- TTAGAGACAGCTGCTCCTCTAAAGG -3'
Posted On 2015-07-07