Incidental Mutation 'R6893:Casp7'
ID 538186
Institutional Source Beutler Lab
Gene Symbol Casp7
Ensembl Gene ENSMUSG00000025076
Gene Name caspase 7
Synonyms ICE-IAP3, CMH-1, caspase-7, Mch3
MMRRC Submission 044987-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6893 (G1)
Quality Score 225.009
Status Validated
Chromosome 19
Chromosomal Location 56385561-56430776 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 56421741 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 60 (Y60H)
Ref Sequence ENSEMBL: ENSMUSP00000026062 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026062]
AlphaFold P97864
Predicted Effect probably damaging
Transcript: ENSMUST00000026062
AA Change: Y60H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000026062
Gene: ENSMUSG00000025076
AA Change: Y60H

DomainStartEndE-ValueType
low complexity region 29 40 N/A INTRINSIC
CASc 59 303 2.2e-135 SMART
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 98.7%
  • 20x: 95.2%
Validation Efficiency 100% (49/49)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam32 T A 8: 25,368,770 (GRCm39) D538V probably damaging Het
Akap9 T C 5: 4,011,709 (GRCm39) I804T probably benign Het
Amy1 T C 3: 113,357,281 (GRCm39) E186G probably benign Het
Best1 A G 19: 9,974,446 (GRCm39) Y33H probably damaging Het
Cacna1s C A 1: 136,005,431 (GRCm39) N405K probably benign Het
Ccdc61 T C 7: 18,626,488 (GRCm39) N367S possibly damaging Het
Cnksr3 A T 10: 7,085,129 (GRCm39) probably null Het
Col14a1 A C 15: 55,308,044 (GRCm39) probably benign Het
Cyp3a57 A T 5: 145,323,784 (GRCm39) K424* probably null Het
Dnai3 T C 3: 145,786,184 (GRCm39) E366G probably damaging Het
Dpep3 T C 8: 106,700,474 (GRCm39) K411E probably benign Het
Ebf2 T A 14: 67,475,008 (GRCm39) V81E probably benign Het
Ehbp1 G T 11: 21,964,945 (GRCm39) T1084K probably damaging Het
Fastkd2 C T 1: 63,770,953 (GRCm39) A103V possibly damaging Het
Gtf3c2 T C 5: 31,323,722 (GRCm39) K525E probably benign Het
Hdac2 A G 10: 36,873,003 (GRCm39) E287G probably damaging Het
Ifi207 T A 1: 173,555,208 (GRCm39) T832S possibly damaging Het
Igf1 G C 10: 87,700,722 (GRCm39) V49L probably damaging Het
Lef1 A G 3: 130,909,149 (GRCm39) D55G possibly damaging Het
Lipo2 G T 19: 33,698,407 (GRCm39) Y323* probably null Het
Mettl24 C T 10: 40,613,794 (GRCm39) R178C probably damaging Het
Naa80 A G 9: 107,460,225 (GRCm39) E40G probably damaging Het
Ndrg4 C A 8: 96,433,229 (GRCm39) C66* probably null Het
Nemf A G 12: 69,399,110 (GRCm39) V140A probably benign Het
Nid2 T A 14: 19,839,855 (GRCm39) F815I probably benign Het
Or4c108 A G 2: 88,804,143 (GRCm39) F31L probably benign Het
Or5b106 A C 19: 13,123,106 (GRCm39) S306A probably benign Het
Or8b12c A C 9: 37,716,141 (GRCm39) *311C probably null Het
Or8b3b A T 9: 38,584,355 (GRCm39) N141K possibly damaging Het
Or8k30 A G 2: 86,339,136 (GRCm39) E111G probably damaging Het
Pcdhga3 T C 18: 37,809,598 (GRCm39) S684P probably benign Het
Plch1 A T 3: 63,660,562 (GRCm39) C352* probably null Het
Plscr2 G A 9: 92,172,757 (GRCm39) V139I probably benign Het
Ppa1 T A 10: 61,508,182 (GRCm39) C270S probably benign Het
Ryr2 T A 13: 11,844,540 (GRCm39) M399L possibly damaging Het
Scn3a A G 2: 65,356,098 (GRCm39) V212A possibly damaging Het
Serpina3b A G 12: 104,099,285 (GRCm39) K267E probably benign Het
Shroom3 A G 5: 93,090,063 (GRCm39) T938A probably damaging Het
Specc1 A C 11: 62,023,279 (GRCm39) S115R probably benign Het
Stim2 C T 5: 54,210,787 (GRCm39) T74I probably benign Het
Sult6b2 T A 6: 142,750,025 (GRCm39) D31V possibly damaging Het
Tbc1d24 A T 17: 24,401,492 (GRCm39) W406R probably damaging Het
Tmprss11b A G 5: 86,811,245 (GRCm39) probably null Het
Trappc9 A G 15: 72,797,499 (GRCm39) Y575H possibly damaging Het
Trim63 C T 4: 134,050,412 (GRCm39) T232M probably damaging Het
Ttn A T 2: 76,598,180 (GRCm39) S19578T probably damaging Het
Vmn2r111 T C 17: 22,778,032 (GRCm39) N549S possibly damaging Het
Xpo4 T A 14: 57,819,767 (GRCm39) E1139D probably benign 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
R5765:Casp7 UTSW 19 56,422,315 (GRCm39) missense possibly damaging 0.87
R6207:Casp7 UTSW 19 56,429,452 (GRCm39) missense possibly damaging 0.53
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'- ATTGACCCTGGAGCCTTGTTC -3'
(R):5'- TCCTACAGTACATAGCGGGACC -3'

Sequencing Primer
(F):5'- GGAGCCTTGTTCCATTTAAACATGAC -3'
(R):5'- TACATAGCGGGACCTCAGACTG -3'
Posted On 2018-11-06