Incidental Mutation 'R5765:Casp7'
ID 446253
Institutional Source Beutler Lab
Gene Symbol Casp7
Ensembl Gene ENSMUSG00000025076
Gene Name caspase 7
Synonyms ICE-IAP3, CMH-1, caspase-7, Mch3
MMRRC Submission 043366-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5765 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 56385561-56430776 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 56422315 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 110 (V110A)
Ref Sequence ENSEMBL: ENSMUSP00000026062 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026062]
AlphaFold P97864
Predicted Effect possibly damaging
Transcript: ENSMUST00000026062
AA Change: V110A

PolyPhen 2 Score 0.865 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000026062
Gene: ENSMUSG00000025076
AA Change: V110A

DomainStartEndE-ValueType
low complexity region 29 40 N/A INTRINSIC
CASc 59 303 2.2e-135 SMART
Meta Mutation Damage Score 0.3969 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency 94% (51/54)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the cysteine-aspartic acid protease (caspase) family. Sequential activation of caspases plays a central role in the execution-phase of cell apoptosis. Caspases exist as inactive proenzymes which undergo proteolytic processing at conserved aspartic residues to produce two subunits, large and small, that dimerize to form the active enzyme. The precursor of the encoded protein is cleaved by caspase 3 and 10, is activated upon cell death stimuli and induces apoptosis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2012]
PHENOTYPE: Mice homozygous for a targeted mutation have normal appearance, organ morphology and lymphoid development. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700086D15Rik A T 11: 65,044,066 (GRCm39) probably benign Het
Abcf2 T C 5: 24,778,421 (GRCm39) R246G probably damaging Het
Adamts19 G T 18: 59,185,654 (GRCm39) C1176F probably damaging Het
Adh7 G A 3: 137,932,090 (GRCm39) V235I probably benign Het
Aoc1l1 C T 6: 48,955,471 (GRCm39) P694S probably damaging Het
Caprin2 G C 6: 148,744,666 (GRCm39) P701A probably damaging Het
Cd1d2 A T 3: 86,894,549 (GRCm39) M106L probably benign Het
Cntnap2 C T 6: 46,506,749 (GRCm39) probably benign Het
Cpm A G 10: 117,507,638 (GRCm39) I252V probably benign Het
Dnaaf2 A C 12: 69,239,627 (GRCm39) I631M probably damaging Het
Fads2b T G 2: 85,314,538 (GRCm39) probably null Het
Fam117b A G 1: 60,009,631 (GRCm39) probably null Het
Fbxw22 T C 9: 109,214,064 (GRCm39) M251V probably benign Het
Fignl1 T C 11: 11,752,011 (GRCm39) probably null Het
Foxp1 G A 6: 98,992,423 (GRCm39) L156F probably damaging Het
Gdap1 A T 1: 17,231,650 (GRCm39) M332L probably benign Het
H2-M3 T C 17: 37,583,334 (GRCm39) F265S probably damaging Het
Il1rl1 C T 1: 40,501,103 (GRCm39) A493V probably benign Het
Iqce A G 5: 140,651,895 (GRCm39) S359P probably damaging Het
Kif2b C T 11: 91,468,068 (GRCm39) E72K probably benign Het
Luzp1 T C 4: 136,268,340 (GRCm39) S188P probably damaging Het
Med13l T A 5: 118,866,707 (GRCm39) L587Q probably damaging Het
Mocs2 A G 13: 114,962,692 (GRCm39) probably null Het
Mtnr1b T C 9: 15,774,459 (GRCm39) Y200C probably damaging Het
Nalcn C T 14: 123,702,138 (GRCm39) V458I possibly damaging Het
Nbea C T 3: 55,912,719 (GRCm39) V1023I probably benign Het
Nbeal1 T A 1: 60,331,006 (GRCm39) V2205D probably damaging Het
Nfe2l3 A G 6: 51,434,226 (GRCm39) D262G probably damaging Het
Nsfl1c T C 2: 151,346,085 (GRCm39) Y169H probably damaging Het
Pcdhac1 A T 18: 37,223,372 (GRCm39) R62* probably null Het
Pcdhga1 A G 18: 37,796,714 (GRCm39) T573A probably benign Het
Plin4 C T 17: 56,409,470 (GRCm39) C1276Y possibly damaging Het
Ppp6r1 C A 7: 4,645,207 (GRCm39) R220L possibly damaging Het
Ptprz1 T G 6: 23,000,235 (GRCm39) V775G probably damaging Het
Sh3bp5 C A 14: 31,099,452 (GRCm39) R265L probably benign Het
Slc17a6 A G 7: 51,275,249 (GRCm39) T103A possibly damaging Het
Spock1 A T 13: 57,577,217 (GRCm39) L404Q probably benign Het
Stradb C A 1: 59,031,903 (GRCm39) H272N probably benign Het
Strn3 A G 12: 51,680,410 (GRCm39) S397P probably benign Het
Synpo2l C T 14: 20,716,198 (GRCm39) R126H possibly damaging Het
Tas2r104 A G 6: 131,662,236 (GRCm39) Y158H probably benign Het
Tiparp T A 3: 65,438,771 (GRCm39) I29N possibly damaging Het
Tnpo1 G A 13: 98,996,349 (GRCm39) T484M probably benign Het
Tsc22d4 A G 5: 137,756,805 (GRCm39) I78V probably benign Het
Ugt2b1 T C 5: 87,067,265 (GRCm39) Y386C probably benign Het
Ugt2b38 A G 5: 87,571,954 (GRCm39) V26A probably damaging Het
Vmn2r116 G A 17: 23,620,378 (GRCm39) C704Y probably damaging Het
Vmn2r97 T A 17: 19,167,442 (GRCm39) Y565* probably null Het
Zfand2b T A 1: 75,147,171 (GRCm39) probably null Het
Zzef1 C T 11: 72,712,763 (GRCm39) Q228* probably null Het
Other mutations in Casp7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01109:Casp7 APN 19 56,425,177 (GRCm39) missense probably benign 0.00
IGL01338:Casp7 APN 19 56,392,896 (GRCm39) missense probably benign
IGL02831:Casp7 APN 19 56,392,855 (GRCm39) missense probably benign 0.01
IGL02886:Casp7 APN 19 56,421,775 (GRCm39) missense probably damaging 1.00
R1558:Casp7 UTSW 19 56,421,684 (GRCm39) nonsense probably null
R2026:Casp7 UTSW 19 56,424,830 (GRCm39) missense probably damaging 1.00
R5445:Casp7 UTSW 19 56,421,770 (GRCm39) splice site probably null
R5665:Casp7 UTSW 19 56,429,414 (GRCm39) missense probably benign 0.00
R6207:Casp7 UTSW 19 56,429,452 (GRCm39) missense possibly damaging 0.53
R6893:Casp7 UTSW 19 56,421,741 (GRCm39) missense probably damaging 1.00
R7261:Casp7 UTSW 19 56,424,765 (GRCm39) missense probably benign 0.00
R7271:Casp7 UTSW 19 56,424,793 (GRCm39) missense probably damaging 1.00
R8331:Casp7 UTSW 19 56,429,397 (GRCm39) missense probably damaging 1.00
R9498:Casp7 UTSW 19 56,424,767 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGTTTGCCTCTGGTCTCACG -3'
(R):5'- AGCTCTTGGAGTCTCGTCTG -3'

Sequencing Primer
(F):5'- CCTCTGGTCTCACGTGTGTGG -3'
(R):5'- GGAGTCTCGTCTGGTCCCTAATTTAC -3'
Posted On 2016-11-21