Incidental Mutation 'R5129:Capn7'
ID 394922
Institutional Source Beutler Lab
Gene Symbol Capn7
Ensembl Gene ENSMUSG00000021893
Gene Name calpain 7
Synonyms PalBH
MMRRC Submission 042717-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.818) question?
Stock # R5129 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 31058595-31093943 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 31066468 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 94 (V94A)
Ref Sequence ENSEMBL: ENSMUSP00000119214 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022451] [ENSMUST00000143472] [ENSMUST00000152182]
AlphaFold Q9R1S8
Predicted Effect possibly damaging
Transcript: ENSMUST00000022451
AA Change: V94A

PolyPhen 2 Score 0.705 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000022451
Gene: ENSMUSG00000021893
AA Change: V94A

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 damaging
Transcript: ENSMUST00000143472
AA Change: V94A

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000118596
Gene: ENSMUSG00000021893
AA Change: V94A

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: V94A

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000119214
Gene: ENSMUSG00000021893
AA Change: V94A

DomainStartEndE-ValueType
MIT 3 77 1.54e0 SMART
MIT 83 160 1.07e-17 SMART
CysPc 218 500 2.32e-50 SMART
Meta Mutation Damage Score 0.1530 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.8%
Validation Efficiency 98% (51/52)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930432E11Rik A G 7: 29,260,786 (GRCm39) noncoding transcript Het
Abcf1 C T 17: 36,271,687 (GRCm39) probably benign Het
Adamts14 T A 10: 61,085,397 (GRCm39) D209V probably benign Het
Aldh3b1 A G 19: 3,965,336 (GRCm39) F392L probably benign Het
Atp1a2 A T 1: 172,103,522 (GRCm39) D999E probably benign Het
Cdh13 A G 8: 119,821,954 (GRCm39) D271G probably damaging Het
Cntnap5b G A 1: 100,306,815 (GRCm39) G844D probably damaging Het
Col6a4 T C 9: 105,890,576 (GRCm39) E1906G probably damaging Het
Daw1 T C 1: 83,183,624 (GRCm39) Y225H probably damaging Het
Dvl3 T A 16: 20,336,090 (GRCm39) M49K possibly damaging Het
Eef1b2 T G 1: 63,218,739 (GRCm39) S175A probably damaging Het
Epb41l1 A T 2: 156,351,201 (GRCm39) Y425F possibly damaging Het
Fam43b A T 4: 138,122,783 (GRCm39) L179* probably null Het
Fbxw28 A G 9: 109,155,671 (GRCm39) L314P probably damaging Het
Fstl4 C A 11: 53,077,266 (GRCm39) D674E probably damaging Het
G3bp1 T C 11: 55,379,942 (GRCm39) V92A possibly damaging Het
Gm3604 A T 13: 62,517,588 (GRCm39) Y257N probably benign Het
Gm5900 A G 7: 104,599,223 (GRCm39) noncoding transcript Het
Hectd4 G A 5: 121,481,573 (GRCm39) V3041M possibly damaging Het
Hivep2 A G 10: 14,006,608 (GRCm39) K1069E probably damaging Het
Hlf T C 11: 90,281,078 (GRCm39) D38G probably benign Het
Hsd3b7 C A 7: 127,400,306 (GRCm39) C18* probably null Het
Kdm5a T C 6: 120,381,983 (GRCm39) C676R probably damaging Het
Klhdc7b A G 15: 89,272,751 (GRCm39) Y1211C probably damaging Het
Krt78 C A 15: 101,856,015 (GRCm39) V599L possibly damaging Het
Mroh9 C G 1: 162,888,329 (GRCm39) G249R probably damaging Het
Nbas T C 12: 13,440,961 (GRCm39) L1097P probably damaging Het
Nf2 A C 11: 4,766,145 (GRCm39) D87E probably benign Het
Or10d4c T A 9: 39,558,790 (GRCm39) I256N probably benign Het
Or14j2 T C 17: 37,886,071 (GRCm39) Y81C probably damaging Het
Ppil3 A G 1: 58,479,992 (GRCm39) probably benign Het
Prrc2a T C 17: 35,379,154 (GRCm39) E276G unknown Het
Semp2l1 C A 1: 32,584,560 (GRCm39) R450M probably damaging Het
Semp2l1 T A 1: 32,584,561 (GRCm39) R450W probably damaging Het
Spata16 A G 3: 26,721,713 (GRCm39) E78G probably damaging Het
Tlr3 A T 8: 45,856,018 (GRCm39) I54K probably damaging Het
Tmem72 A G 6: 116,678,974 (GRCm39) L34P probably damaging Het
Triobp A G 15: 78,845,296 (GRCm39) R213G probably benign Het
Tyrp1 T A 4: 80,764,844 (GRCm39) V7D probably damaging Het
Uhrf2 A G 19: 30,052,621 (GRCm39) I372V probably benign Het
Uty T C Y: 1,158,592 (GRCm39) T484A probably benign Het
Vcan T C 13: 89,838,359 (GRCm39) D2395G probably damaging Het
Vmn1r225 T A 17: 20,723,378 (GRCm39) I273N probably damaging Het
Zfp451 C T 1: 33,842,014 (GRCm39) probably benign Het
Zfp457 T C 13: 67,441,420 (GRCm39) E385G probably benign Het
Zfp74 C T 7: 29,631,880 (GRCm39) M121I probably benign Het
Zfp866 A T 8: 70,220,359 (GRCm39) probably null Het
Zfp874a A T 13: 67,591,100 (GRCm39) C195S 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
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
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'- CCCTGATGTCTAAATAATTGGGTTTGG -3'
(R):5'- TGATAGAATGGCAGGGCTCC -3'

Sequencing Primer
(F):5'- CTAAATAATTGGGTTTGGGCAGG -3'
(R):5'- GGGCTCCTTCCAAATAAATAAATCTG -3'
Posted On 2016-06-21