Incidental Mutation 'IGL03231:Capn7'
ID 413889
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Capn7
Ensembl Gene ENSMUSG00000021893
Gene Name calpain 7
Synonyms PalBH
Accession Numbers
Essential gene? Probably essential (E-score: 0.818) question?
Stock # IGL03231
Quality Score
Status
Chromosome 14
Chromosomal Location 31058595-31093943 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 31077247 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Arginine at position 322 (G322R)
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: G322R

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000022451
Gene: ENSMUSG00000021893
AA Change: G322R

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: G322R

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000118596
Gene: ENSMUSG00000021893
AA Change: G322R

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: G322R

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000119214
Gene: ENSMUSG00000021893
AA Change: G322R

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
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 A C 11: 110,046,094 (GRCm39) F277V probably damaging Het
Arel1 T A 12: 84,981,084 (GRCm39) T308S probably benign Het
Asic1 T A 15: 99,596,983 (GRCm39) H548Q probably benign Het
B3galt1 T C 2: 67,948,947 (GRCm39) Y221H probably damaging Het
Bltp2 A G 11: 78,159,528 (GRCm39) T526A probably benign Het
Brs3 G T X: 56,090,804 (GRCm39) C221F probably benign Het
Ccdc138 T C 10: 58,409,528 (GRCm39) L619P probably damaging Het
Cdh22 C T 2: 164,958,126 (GRCm39) V614I probably benign Het
Dnah5 C T 15: 28,311,294 (GRCm39) R1758W probably damaging Het
Dr1 T C 5: 108,423,474 (GRCm39) V87A probably benign Het
F830045P16Rik A G 2: 129,302,393 (GRCm39) S400P probably damaging Het
Fcgbpl1 A G 7: 27,853,147 (GRCm39) E1478G possibly damaging Het
Fyb2 T A 4: 104,843,460 (GRCm39) Y353* probably null Het
Gm28043 A G 17: 29,854,916 (GRCm39) D457G probably damaging Het
Gsap T C 5: 21,434,164 (GRCm39) V260A probably damaging Het
Kcnt2 A T 1: 140,461,740 (GRCm39) probably benign Het
Magee2 A T X: 103,899,944 (GRCm39) L236M probably damaging Het
Map4k3 A T 17: 80,905,104 (GRCm39) V729E probably damaging Het
Myh13 A G 11: 67,242,817 (GRCm39) E910G possibly damaging Het
Nbeal1 G T 1: 60,275,618 (GRCm39) A651S probably benign Het
Nhsl3 C T 4: 129,117,474 (GRCm39) V385I possibly damaging Het
Nuak2 A T 1: 132,255,915 (GRCm39) D188V probably damaging Het
Nup210l A G 3: 90,096,852 (GRCm39) T1354A probably damaging Het
Or10q1 A T 19: 13,726,749 (GRCm39) Q93L probably benign Het
Pof1b C T X: 111,554,987 (GRCm39) S506N possibly damaging Het
Prrt3 A G 6: 113,474,485 (GRCm39) S246P possibly damaging Het
Rps6ka6 T A X: 110,360,018 (GRCm39) T43S probably benign Het
Slc19a2 G T 1: 164,088,449 (GRCm39) W98L probably damaging Het
Snap29 C T 16: 17,244,964 (GRCm39) S195L probably benign Het
Stt3b C T 9: 115,073,062 (GRCm39) G815S unknown Het
Tm9sf2 T G 14: 122,378,664 (GRCm39) I256R possibly damaging Het
Tpbpb A T 13: 61,049,996 (GRCm39) N44K probably damaging Het
Trim13 A G 14: 61,842,994 (GRCm39) E337G probably benign Het
Trmt6 A T 2: 132,657,756 (GRCm39) D33E probably benign Het
Trpm6 T A 19: 18,796,545 (GRCm39) S800R probably benign Het
V1rd19 A G 7: 23,703,328 (GRCm39) I265V probably benign Het
Xkrx A G X: 133,051,391 (GRCm39) L420P probably damaging Het
Zfp618 T C 4: 63,012,716 (GRCm39) Y167H 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
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
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
Posted On 2016-08-02