Incidental Mutation 'R5023:Capn7'
ID 391163
Institutional Source Beutler Lab
Gene Symbol Capn7
Ensembl Gene ENSMUSG00000021893
Gene Name calpain 7
Synonyms PalBH
MMRRC Submission 042614-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.818) question?
Stock # R5023 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 31058595-31093943 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 31074383 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 262 (V262E)
Ref Sequence ENSEMBL: ENSMUSP00000119214 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022451] [ENSMUST00000143472] [ENSMUST00000152182]
AlphaFold Q9R1S8
Predicted Effect probably damaging
Transcript: ENSMUST00000022451
AA Change: V262E

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000022451
Gene: ENSMUSG00000021893
AA Change: V262E

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: V262E

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000118596
Gene: ENSMUSG00000021893
AA Change: V262E

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: V262E

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000119214
Gene: ENSMUSG00000021893
AA Change: V262E

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 0.3100 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.2%
Validation Efficiency 98% (127/129)
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: 124 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933427D14Rik A T 11: 72,057,581 (GRCm39) H739Q probably benign Het
Abca3 C T 17: 24,593,274 (GRCm39) R224C probably damaging Het
Abca8b A G 11: 109,865,814 (GRCm39) probably null Het
Adam1b C T 5: 121,639,222 (GRCm39) V608M probably damaging Het
Ank2 A G 3: 126,735,520 (GRCm39) probably benign Het
Ankrd17 A C 5: 90,430,727 (GRCm39) L1019R probably damaging Het
Arih1 T C 9: 59,393,515 (GRCm39) N39S unknown Het
Best3 G A 10: 116,824,647 (GRCm39) V38I probably benign Het
Bicc1 A G 10: 70,783,713 (GRCm39) S393P possibly damaging Het
C1d T A 11: 17,216,674 (GRCm39) N135K probably benign Het
Cage1 G T 13: 38,195,387 (GRCm39) S778* probably null Het
Ccdc190 A G 1: 169,760,656 (GRCm39) R95G probably damaging Het
Cd163 C T 6: 124,302,247 (GRCm39) T937I probably damaging Het
Cdh18 G A 15: 23,259,752 (GRCm39) S194N probably damaging Het
Ceacam23 A T 7: 17,636,631 (GRCm39) D236V probably damaging Het
Clec4b2 A T 6: 123,177,915 (GRCm39) S77C probably null Het
Ctsw T A 19: 5,516,077 (GRCm39) D237V probably damaging Het
Cyp2c68 G A 19: 39,700,951 (GRCm39) T289I probably benign Het
Cyp4f39 A G 17: 32,700,078 (GRCm39) Y133C probably damaging Het
Dlg5 T C 14: 24,186,690 (GRCm39) E1847G probably damaging Het
Dnah7a C A 1: 53,686,407 (GRCm39) E248* probably null Het
Eef2kmt T A 16: 5,065,463 (GRCm39) D248V probably damaging Het
Ewsr1 T C 11: 5,038,054 (GRCm39) T113A possibly damaging Het
Fbxo4 A G 15: 4,007,238 (GRCm39) probably null Het
Fbxo43 A T 15: 36,163,075 (GRCm39) M44K probably benign Het
Fchsd1 A G 18: 38,097,863 (GRCm39) I340T possibly damaging Het
Fgf5 C A 5: 98,409,874 (GRCm39) A141E probably damaging Het
Gfm1 T C 3: 67,380,877 (GRCm39) V664A probably damaging Het
Glp2r T C 11: 67,631,858 (GRCm39) T121A possibly damaging Het
Gm10803 A C 2: 93,394,517 (GRCm39) L96F probably damaging Het
Gm14569 T C X: 35,694,470 (GRCm39) D1413G probably benign Het
Gm15455 T C 1: 33,876,432 (GRCm39) noncoding transcript Het
Gm1818 G C 12: 48,602,318 (GRCm39) noncoding transcript Het
Gnb2 G A 5: 137,528,202 (GRCm39) probably null Het
Gpc4 G A X: 51,163,440 (GRCm39) R148C probably damaging Het
Gpx5 C T 13: 21,472,915 (GRCm39) V140I probably damaging Het
Gtpbp1 A T 15: 79,603,422 (GRCm39) Q637L possibly damaging Het
H2-T9 A G 17: 36,420,307 (GRCm39) probably benign Het
Herc1 A T 9: 66,377,608 (GRCm39) K3458M possibly damaging Het
Hhat A T 1: 192,409,647 (GRCm39) L138Q probably damaging Het
Hipk1 G T 3: 103,684,823 (GRCm39) T264N probably damaging Het
Hjurp A T 1: 88,202,772 (GRCm39) Y71N possibly damaging Het
Hnf4g G T 3: 3,709,647 (GRCm39) A144S probably damaging Het
Hook3 TAGAG TAG 8: 26,522,047 (GRCm39) probably null Het
Ifi204 G A 1: 173,579,306 (GRCm39) T513I possibly damaging Het
Ino80b G T 6: 83,102,023 (GRCm39) S26R probably damaging Het
Ints9 T A 14: 65,217,677 (GRCm39) L68H probably damaging Het
Isx C T 8: 75,619,342 (GRCm39) T178I probably benign Het
Kel A G 6: 41,665,045 (GRCm39) L255P probably damaging Het
Klf11 T A 12: 24,705,358 (GRCm39) S271T probably benign Het
Klhl20 A C 1: 160,936,790 (GRCm39) probably null Het
Lama2 G A 10: 27,066,500 (GRCm39) T1127I probably damaging Het
Larp1b T A 3: 40,988,420 (GRCm39) N81K possibly damaging Het
Lsm11 T C 11: 45,835,666 (GRCm39) D25G probably damaging Het
Map3k20 T A 2: 72,232,689 (GRCm39) probably benign Het
Mbd6 C T 10: 127,122,310 (GRCm39) V173I probably benign Het
Milr1 A G 11: 106,657,791 (GRCm39) D131G possibly damaging Het
Mybpc1 T G 10: 88,379,636 (GRCm39) D635A probably damaging Het
Myh7b G C 2: 155,474,293 (GRCm39) R1669S possibly damaging Het
Ndufa7 A G 17: 34,043,577 (GRCm39) probably benign Het
Ndufs3 C A 2: 90,729,004 (GRCm39) A161S probably benign Het
Neo1 T C 9: 58,897,554 (GRCm39) D134G probably damaging Het
Nme4 G A 17: 26,312,642 (GRCm39) T129I probably benign Het
Npffr2 A T 5: 89,730,546 (GRCm39) T159S probably benign Het
Nup153 A T 13: 46,834,585 (GRCm39) probably benign Het
Or3a10 T A 11: 73,935,881 (GRCm39) D73V probably damaging Het
Or51ac3 A C 7: 103,214,378 (GRCm39) M36R possibly damaging Het
Pate2 T C 9: 35,597,407 (GRCm39) probably benign Het
Pcca A G 14: 123,027,810 (GRCm39) N73D probably damaging Het
Pip5k1c G A 10: 81,146,723 (GRCm39) probably null Het
Pkhd1l1 A T 15: 44,391,587 (GRCm39) H1551L probably benign Het
Pkhd1l1 G A 15: 44,445,623 (GRCm39) M3768I probably benign Het
Ppa2 A G 3: 133,076,195 (GRCm39) M275V probably benign Het
Ptpn23 G A 9: 110,217,624 (GRCm39) T744I probably benign Het
Ptprv A T 1: 135,052,244 (GRCm39) noncoding transcript Het
Rad17 A T 13: 100,781,571 (GRCm39) H75Q possibly damaging Het
Rbm44 T C 1: 91,096,820 (GRCm39) probably null Het
Rbpj C T 5: 53,806,757 (GRCm39) R201W probably damaging Het
Rbpjl C A 2: 164,252,209 (GRCm39) L215I probably damaging Het
Ror1 A G 4: 100,283,129 (GRCm39) E398G probably benign Het
Scamp3 T A 3: 89,089,600 (GRCm39) probably benign Het
Selenot CATGTATG CATGTATGTATG 3: 58,495,874 (GRCm39) probably null Het
Siglec15 A G 18: 78,091,890 (GRCm39) C104R probably damaging Het
Sis T C 3: 72,841,455 (GRCm39) I787V probably benign Het
Slc17a8 T C 10: 89,412,422 (GRCm39) D521G probably benign Het
Slc7a10 T A 7: 34,896,780 (GRCm39) M172K possibly damaging Het
Slco4c1 G A 1: 96,768,953 (GRCm39) P303L probably damaging Het
Slitrk3 T C 3: 72,957,981 (GRCm39) T264A probably benign Het
Smg8 A C 11: 86,976,963 (GRCm39) V206G probably damaging Het
Smg9 A G 7: 24,105,297 (GRCm39) K137R possibly damaging Het
Srrm2 C A 17: 24,038,291 (GRCm39) probably benign Het
Sult2a2 T A 7: 13,468,785 (GRCm39) Y84N possibly damaging Het
Syngr2 A T 11: 117,703,336 (GRCm39) I34F probably benign Het
Tank G A 2: 61,408,979 (GRCm39) probably benign Het
Tead4 T C 6: 128,271,134 (GRCm39) probably benign Het
Tesl1 G A X: 23,773,480 (GRCm39) G327E probably damaging Het
Tex36 A T 7: 133,197,019 (GRCm39) C33S probably benign Het
Timd5 T A 11: 46,419,359 (GRCm39) D58E probably damaging Het
Timm21 C A 18: 84,967,539 (GRCm39) V112L possibly damaging Het
Tmem240 T A 4: 155,824,131 (GRCm39) L92Q probably damaging Het
Tmem268 C G 4: 63,486,777 (GRCm39) S100C probably damaging Het
Tmod3 G A 9: 75,418,488 (GRCm39) P183S probably damaging Het
Trappc10 G T 10: 78,052,994 (GRCm39) F260L possibly damaging Het
Trim16 A T 11: 62,727,638 (GRCm39) Y233F probably benign Het
Trmt112 T C 19: 6,888,121 (GRCm39) V91A probably benign Het
Ttc3 A G 16: 94,230,218 (GRCm39) E450G probably benign Het
Ttk A G 9: 83,745,594 (GRCm39) D647G probably damaging Het
Ubash3b A G 9: 40,948,755 (GRCm39) C187R possibly damaging Het
Vmn1r29 T A 6: 58,285,052 (GRCm39) Y257* probably null Het
Vmn1r33 T C 6: 66,589,089 (GRCm39) N155S probably benign Het
Vmn2r28 T A 7: 5,489,463 (GRCm39) I459L probably benign Het
Vps16 A G 2: 130,281,372 (GRCm39) S235G probably benign Het
Vwde T C 6: 13,192,641 (GRCm39) I421V possibly damaging Het
Xiap T C X: 41,183,342 (GRCm39) F23L probably benign Het
Xkr7 A G 2: 152,896,300 (GRCm39) T385A probably benign Het
Zbtb11 A G 16: 55,826,428 (GRCm39) Y819C probably damaging Het
Zfp112 A G 7: 23,825,909 (GRCm39) T624A probably damaging Het
Zfp592 A G 7: 80,674,095 (GRCm39) D353G probably damaging Het
Zfp62 T A 11: 49,106,556 (GRCm39) S216T probably damaging Het
Zfp677 A T 17: 21,618,056 (GRCm39) H371L probably damaging Het
Zfp780b T C 7: 27,662,873 (GRCm39) K561E possibly damaging Het
Zfp936 G A 7: 42,836,681 (GRCm39) D31N probably damaging Het
Znfx1 T C 2: 166,881,746 (GRCm39) Y217C probably damaging Het
Zpbp C T 11: 11,365,248 (GRCm39) E200K 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
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'- ATGTGTAAAGAGCCAGATTTGACTG -3'
(R):5'- CGCGAAGGATGAGACATGTTTG -3'

Sequencing Primer
(F):5'- GATTTGACTGGCTATTTTAGGAAGAC -3'
(R):5'- GACATGTTTGCAATTATACCCATGC -3'
Posted On 2016-06-06