Incidental Mutation 'R7417:Capn7'
ID 575408
Institutional Source Beutler Lab
Gene Symbol Capn7
Ensembl Gene ENSMUSG00000021893
Gene Name calpain 7
Synonyms PalBH
MMRRC Submission 045495-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.821) question?
Stock # R7417 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 31336638-31371986 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 31370706 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 737 (Y737H)
Ref Sequence ENSEMBL: ENSMUSP00000022451 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022451] [ENSMUST00000091903] [ENSMUST00000100730] [ENSMUST00000140002] [ENSMUST00000143472] [ENSMUST00000152182]
AlphaFold Q9R1S8
Predicted Effect probably damaging
Transcript: ENSMUST00000022451
AA Change: Y737H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000022451
Gene: ENSMUSG00000021893
AA Change: Y737H

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: ENSMUST00000091903
SMART Domains Protein: ENSMUSP00000089517
Gene: ENSMUSG00000021892

DomainStartEndE-ValueType
Pfam:SH3BP5 42 272 2.2e-99 PFAM
low complexity region 323 335 N/A INTRINSIC
low complexity region 407 428 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000100730
SMART Domains Protein: ENSMUSP00000098296
Gene: ENSMUSG00000021892

DomainStartEndE-ValueType
Pfam:SH3BP5 60 274 5.5e-95 PFAM
low complexity region 321 333 N/A INTRINSIC
low complexity region 405 426 N/A INTRINSIC
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: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 100% (79/79)
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A530064D06Rik G A 17: 48,152,889 (GRCm38) T213I probably damaging Het
Akr1b7 G A 6: 34,417,365 (GRCm38) probably null Het
Aldh6a1 T C 12: 84,441,782 (GRCm38) Q110R probably benign Het
Alg11 A T 8: 22,062,028 (GRCm38) T63S probably benign Het
Ankrd13b A G 11: 77,476,194 (GRCm38) Y271H probably damaging Het
Ano8 T A 8: 71,480,833 (GRCm38) D605V unknown Het
Best2 C T 8: 85,009,666 (GRCm38) probably null Het
Brca1 A G 11: 101,524,981 (GRCm38) S776P probably damaging Het
Cblc A T 7: 19,788,974 (GRCm38) S333T probably benign Het
Ccm2 T A 11: 6,593,091 (GRCm38) M257K probably benign Het
Cd320 T A 17: 33,847,556 (GRCm38) C103* probably null Het
Cd53 A G 3: 106,768,919 (GRCm38) F44S probably benign Het
Col9a2 G A 4: 121,054,292 (GRCm38) R610H not run Het
Cubn T C 2: 13,426,967 (GRCm38) I1272V probably benign Het
Cyp2j7 C T 4: 96,201,988 (GRCm38) probably null Het
Dmrt2 A T 19: 25,678,598 (GRCm38) R520S probably benign Het
Dnai3 A T 3: 146,093,080 (GRCm38) probably null Het
Drg2 A G 11: 60,454,680 (GRCm38) M1V probably null Het
Ect2 A G 3: 27,098,419 (GRCm38) S908P probably damaging Het
Eipr1 A G 12: 28,866,955 (GRCm38) T341A probably benign Het
Ell3 A C 2: 121,440,410 (GRCm38) I214R probably benign Het
Emsy A T 7: 98,615,486 (GRCm38) L568Q probably damaging Het
Foxd4 T C 19: 24,900,462 (GRCm38) T125A probably damaging Het
Fthl17b C T X: 8,962,808 (GRCm38) V8M possibly damaging Het
Fthl17b C T X: 8,962,804 (GRCm38) R9Q possibly damaging Het
Gcsam C A 16: 45,619,877 (GRCm38) H94Q probably damaging Het
Ginm1 T A 10: 7,774,080 (GRCm38) I150F probably damaging Het
H2bw2 G A X: 136,927,722 (GRCm38) R120K unknown Het
Hk2 G A 6: 82,743,345 (GRCm38) A205V probably damaging Het
Il3ra A T 14: 14,349,345 (GRCm38) H147L probably benign Het
Map3k6 T A 4: 133,248,396 (GRCm38) S732T probably benign Het
Masp2 A G 4: 148,605,721 (GRCm38) E229G probably benign Het
Mccc2 A G 13: 99,971,777 (GRCm38) probably null Het
Mia3 A G 1: 183,327,653 (GRCm38) V359A Het
Mob1a A T 6: 83,332,510 (GRCm38) T80S probably benign Het
Msantd2 G A 9: 37,523,294 (GRCm38) G478S probably damaging Het
Mtf1 A G 4: 124,825,181 (GRCm38) E329G probably null Het
Myh9 T A 15: 77,763,865 (GRCm38) K1804* probably null Het
Ndst3 A G 3: 123,671,664 (GRCm38) W220R probably damaging Het
Nln A G 13: 104,036,970 (GRCm38) L576P probably damaging Het
Nlrc4 A G 17: 74,446,488 (GRCm38) M300T probably benign Het
Obscn G T 11: 59,129,577 (GRCm38) D880E possibly damaging Het
Oprd1 T C 4: 132,117,452 (GRCm38) T82A probably damaging Het
Or2n1d T A 17: 38,335,292 (GRCm38) I45N probably damaging Het
Or4f60 A C 2: 112,072,100 (GRCm38) V161G probably benign Het
Orc3 A G 4: 34,595,136 (GRCm38) C278R probably damaging Het
Pde4d T A 13: 109,632,788 (GRCm38) probably null Het
Pms1 T C 1: 53,197,072 (GRCm38) E683G probably benign Het
Prdm2 A T 4: 143,179,299 (GRCm38) Y73N probably damaging Het
Prkaa2 T C 4: 105,075,543 (GRCm38) Q36R probably benign Het
Psg22 A G 7: 18,722,966 (GRCm38) E258G probably damaging Het
Ptprf T C 4: 118,212,172 (GRCm38) D1566G probably damaging Het
Rfwd3 T A 8: 111,273,069 (GRCm38) Y759F probably benign Het
Ripor2 A G 13: 24,696,550 (GRCm38) D411G probably damaging Het
Ryr2 A C 13: 11,556,748 (GRCm38) probably null Het
Sdr42e1 T C 8: 117,662,751 (GRCm38) T384A probably benign Het
Sec1 A T 7: 45,684,725 (GRCm38) probably null Het
Sec16a A T 2: 26,421,397 (GRCm38) F616I Het
Sipa1l2 T C 8: 125,482,106 (GRCm38) D521G possibly damaging Het
Smc1b T A 15: 85,097,542 (GRCm38) Q759L probably benign Het
Snph A T 2: 151,600,343 (GRCm38) S57R probably damaging Het
Sqor A T 2: 122,787,530 (GRCm38) T103S probably benign Het
Srbd1 A G 17: 86,136,321 (GRCm38) V159A probably benign Het
Srsf2 A T 11: 116,852,901 (GRCm38) V10E probably damaging Het
Swap70 T A 7: 110,264,109 (GRCm38) probably null Het
Synm A C 7: 67,733,206 (GRCm38) *675G probably null Het
Tek A G 4: 94,811,345 (GRCm38) E320G probably benign Het
Tenm3 T C 8: 48,236,183 (GRCm38) D2123G probably damaging Het
Tmod4 A G 3: 95,125,863 (GRCm38) K56R possibly damaging Het
Top3b G A 16: 16,877,850 (GRCm38) probably benign Het
Tssc4 G T 7: 143,070,688 (GRCm38) E244D possibly damaging Het
Twnk G A 19: 45,010,564 (GRCm38) probably null Het
Ube4a A C 9: 44,956,713 (GRCm38) I45S probably benign Het
Unc79 A T 12: 103,088,758 (GRCm38) M954L possibly damaging Het
Vcpip1 A T 1: 9,746,315 (GRCm38) D614E probably benign Het
Vmn1r45 T A 6: 89,933,053 (GRCm38) I312L probably benign Het
Vmn1r77 A G 7: 12,041,684 (GRCm38) Y129C probably damaging Het
Zer1 A G 2: 30,102,822 (GRCm38) L600P probably damaging Het
Zfp266 T C 9: 20,500,936 (GRCm38) T114A probably benign Het
Zrsr2-ps1 T C 11: 22,974,662 (GRCm38) probably null Het
Other mutations in Capn7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00428:Capn7 APN 14 31,363,578 (GRCm38) missense probably benign 0.41
IGL01481:Capn7 APN 14 31,355,339 (GRCm38) missense probably damaging 1.00
IGL03231:Capn7 APN 14 31,355,290 (GRCm38) missense probably damaging 1.00
R0018:Capn7 UTSW 14 31,354,112 (GRCm38) nonsense probably null
R0018:Capn7 UTSW 14 31,354,112 (GRCm38) nonsense probably null
R0060:Capn7 UTSW 14 31,365,604 (GRCm38) splice site probably benign
R0060:Capn7 UTSW 14 31,365,604 (GRCm38) splice site probably benign
R0077:Capn7 UTSW 14 31,368,115 (GRCm38) missense probably benign 0.10
R0195:Capn7 UTSW 14 31,365,581 (GRCm38) missense probably damaging 1.00
R0316:Capn7 UTSW 14 31,347,809 (GRCm38) missense probably benign 0.00
R0815:Capn7 UTSW 14 31,369,757 (GRCm38) missense possibly damaging 0.85
R0863:Capn7 UTSW 14 31,369,757 (GRCm38) missense possibly damaging 0.85
R1697:Capn7 UTSW 14 31,360,160 (GRCm38) missense probably damaging 1.00
R1954:Capn7 UTSW 14 31,360,150 (GRCm38) missense probably damaging 1.00
R2096:Capn7 UTSW 14 31,349,887 (GRCm38) critical splice donor site probably null
R3121:Capn7 UTSW 14 31,359,210 (GRCm38) missense probably damaging 1.00
R3122:Capn7 UTSW 14 31,359,210 (GRCm38) missense probably damaging 1.00
R4409:Capn7 UTSW 14 31,355,339 (GRCm38) missense probably damaging 1.00
R4676:Capn7 UTSW 14 31,359,259 (GRCm38) missense possibly damaging 0.72
R4799:Capn7 UTSW 14 31,360,557 (GRCm38) missense probably benign 0.01
R5023:Capn7 UTSW 14 31,352,426 (GRCm38) missense probably damaging 0.99
R5129:Capn7 UTSW 14 31,344,511 (GRCm38) missense probably damaging 0.99
R5460:Capn7 UTSW 14 31,368,203 (GRCm38) critical splice donor site probably null
R5608:Capn7 UTSW 14 31,370,707 (GRCm38) missense probably damaging 1.00
R5665:Capn7 UTSW 14 31,369,802 (GRCm38) missense probably benign 0.00
R5786:Capn7 UTSW 14 31,360,145 (GRCm38) missense probably damaging 1.00
R6186:Capn7 UTSW 14 31,370,918 (GRCm38) missense probably damaging 1.00
R6190:Capn7 UTSW 14 31,363,603 (GRCm38) missense probably benign 0.10
R6411:Capn7 UTSW 14 31,340,096 (GRCm38) missense probably benign 0.00
R6514:Capn7 UTSW 14 31,344,554 (GRCm38) missense probably benign 0.00
R6838:Capn7 UTSW 14 31,354,173 (GRCm38) missense possibly damaging 0.95
R7041:Capn7 UTSW 14 31,336,685 (GRCm38) unclassified probably benign
R7047:Capn7 UTSW 14 31,336,685 (GRCm38) unclassified probably benign
R7124:Capn7 UTSW 14 31,336,685 (GRCm38) unclassified probably benign
R7224:Capn7 UTSW 14 31,370,721 (GRCm38) nonsense probably null
R7419:Capn7 UTSW 14 31,349,822 (GRCm38) missense probably benign 0.02
R7544:Capn7 UTSW 14 31,340,050 (GRCm38) missense probably damaging 1.00
R7699:Capn7 UTSW 14 31,352,444 (GRCm38) missense probably benign 0.00
R7700:Capn7 UTSW 14 31,352,444 (GRCm38) missense probably benign 0.00
R7775:Capn7 UTSW 14 31,352,410 (GRCm38) missense probably benign 0.00
R7824:Capn7 UTSW 14 31,352,410 (GRCm38) missense probably benign 0.00
R7908:Capn7 UTSW 14 31,366,245 (GRCm38) critical splice donor site probably null
R8057:Capn7 UTSW 14 31,370,979 (GRCm38) missense probably benign 0.27
R8176:Capn7 UTSW 14 31,347,772 (GRCm38) missense probably benign 0.03
R8270:Capn7 UTSW 14 31,358,679 (GRCm38) missense probably damaging 0.97
R9103:Capn7 UTSW 14 31,369,775 (GRCm38) missense probably benign 0.23
R9732:Capn7 UTSW 14 31,368,074 (GRCm38) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- CGGTTCTTGGAATGCCATATGG -3'
(R):5'- CCCAGCAGGTATGTTTTCCAG -3'

Sequencing Primer
(F):5'- CTACATAGTGAGTTCCAGGACAGTC -3'
(R):5'- CAGCAGGTATGTTTTCCAGTTCTAAG -3'
Posted On 2019-10-07