Incidental Mutation 'R5297:Casp6'
ID 405458
Institutional Source Beutler Lab
Gene Symbol Casp6
Ensembl Gene ENSMUSG00000027997
Gene Name caspase 6
Synonyms Mch2, mCASP-6
MMRRC Submission 042880-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.422) question?
Stock # R5297 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 129695074-129707752 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 129704204 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 97 (F97L)
Ref Sequence ENSEMBL: ENSMUSP00000029626 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029624] [ENSMUST00000029626] [ENSMUST00000153506]
AlphaFold O08738
Predicted Effect probably benign
Transcript: ENSMUST00000029624
SMART Domains Protein: ENSMUSP00000029624
Gene: ENSMUSG00000027994

DomainStartEndE-ValueType
Pfam:MCU 109 314 4.4e-68 PFAM
low complexity region 323 335 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000029626
AA Change: F97L

PolyPhen 2 Score 0.830 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000029626
Gene: ENSMUSG00000027997
AA Change: F97L

DomainStartEndE-ValueType
CASc 19 272 6.84e-132 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137314
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152622
Predicted Effect probably benign
Transcript: ENSMUST00000153506
SMART Domains Protein: ENSMUSP00000118170
Gene: ENSMUSG00000027994

DomainStartEndE-ValueType
low complexity region 178 202 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.6%
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of the cysteine proteases that plays important roles in regulating apoptosis and neurodegeneration. The encoded protein is involved in the transmission of pain and axonal degeneration. Genetic deletion of this gene in mice results in the delay of axon pruning and protects from axon degeneration. [provided by RefSeq, Apr 2015]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit failure to induce increased lysis of fluorogenic substrate VEID-AMC in staurosporine treated of lenses. Mice homozygous for a different knock-out allele exhibit resistance to excitotoxicity and axonal degeneration. [provided by MGI curators]
Allele List at MGI

All alleles(6) : Targeted(5) Gene trapped(1)
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acbd6 G T 1: 155,463,204 (GRCm39) A135S probably benign Het
Agbl4 A G 4: 111,423,895 (GRCm39) K307R possibly damaging Het
Akna T C 4: 63,300,083 (GRCm39) E653G possibly damaging Het
Arhgap26 T C 18: 39,254,941 (GRCm39) Y273H probably damaging Het
Atg14 G A 14: 47,805,656 (GRCm39) R70C probably damaging Het
Atp1a1 C T 3: 101,498,443 (GRCm39) V250M possibly damaging Het
Cacna1c T G 6: 118,719,322 (GRCm39) D215A probably damaging Het
Cadps T A 14: 12,822,345 (GRCm38) N132Y probably damaging Het
Ckap2l T C 2: 129,127,290 (GRCm39) N296S possibly damaging Het
Col6a4 T C 9: 105,952,066 (GRCm39) K611E probably benign Het
Copa A G 1: 171,940,675 (GRCm39) H696R probably damaging Het
Cyp2a4 T A 7: 26,011,629 (GRCm39) N283K probably benign Het
Dcc C T 18: 71,511,809 (GRCm39) V869I probably benign Het
Efemp1 G T 11: 28,817,868 (GRCm39) G116C probably damaging Het
F830045P16Rik T C 2: 129,302,473 (GRCm39) E373G probably benign Het
Fbxo9 T C 9: 77,993,561 (GRCm39) T318A probably benign Het
Gipr A G 7: 18,891,469 (GRCm39) W403R probably damaging Het
Gm4787 G C 12: 81,424,604 (GRCm39) T518S probably benign Het
Golgb1 G A 16: 36,695,978 (GRCm39) probably benign Het
Hdac1-ps A G 17: 78,800,187 (GRCm39) S393G probably benign Het
Herc3 T C 6: 58,833,626 (GRCm39) L171P probably damaging Het
Il5ra A G 6: 106,715,095 (GRCm39) I221T probably benign Het
Itgb2 A G 10: 77,400,501 (GRCm39) I705V probably damaging Het
Map4k4 G T 1: 40,001,377 (GRCm39) V55F probably damaging Het
Mast1 A G 8: 85,639,947 (GRCm39) probably null Het
Mitf G T 6: 97,971,391 (GRCm39) G186V probably benign Het
Mtpn C T 6: 35,489,225 (GRCm39) D100N probably benign Het
Nrcam T C 12: 44,591,567 (GRCm39) F204L probably damaging Het
Or10g1 A G 14: 52,647,675 (GRCm39) L218P probably damaging Het
Or10x4 A G 1: 174,218,766 (GRCm39) M44V probably benign Het
Or1e16 AGCGGTCGTAGGC AGC 11: 73,286,480 (GRCm39) probably null Het
Or1e22 A T 11: 73,377,215 (GRCm39) V145E probably damaging Het
Or2a12 T C 6: 42,904,371 (GRCm39) S69P probably benign Het
Or52n4b A T 7: 108,144,611 (GRCm39) N291I probably damaging Het
Or5as1 T C 2: 86,980,793 (GRCm39) I71V probably benign Het
Pclo A T 5: 14,726,263 (GRCm39) probably benign Het
Pik3ca T A 3: 32,504,202 (GRCm39) Y631N probably damaging Het
Pramel19 T A 4: 101,798,348 (GRCm39) D106E possibly damaging Het
Ptk2b T C 14: 66,409,966 (GRCm39) D462G probably benign Het
Rnf19a A G 15: 36,247,924 (GRCm39) S427P probably damaging Het
Scn3a T A 2: 65,299,378 (GRCm39) Y1376F possibly damaging Het
Shoc1 A G 4: 59,047,543 (GRCm39) W1359R probably benign Het
Spem1 A G 11: 69,711,753 (GRCm39) Y304H probably damaging Het
Stk38l C A 6: 146,677,153 (GRCm39) Y450* probably null Het
Stx19 A G 16: 62,642,337 (GRCm39) E51G probably damaging Het
Ttc41 C G 10: 86,612,443 (GRCm39) Q1239E probably benign Het
Tuba3a C T 6: 125,258,303 (GRCm39) R229H probably damaging Het
Utp18 A T 11: 93,766,915 (GRCm39) V264D probably damaging Het
V1rd19 T C 7: 23,702,714 (GRCm39) V60A probably damaging Het
Virma T G 4: 11,494,819 (GRCm39) V40G probably damaging Het
Vmn1r160 C T 7: 22,570,715 (GRCm39) Q23* probably null Het
Vmn2r13 T C 5: 109,339,805 (GRCm39) I57V probably benign Het
Vmn2r26 T A 6: 124,038,832 (GRCm39) F802L probably damaging Het
Vmn2r61 A G 7: 41,909,646 (GRCm39) D57G probably benign Het
Vps13c A G 9: 67,785,413 (GRCm39) N260S probably damaging Het
Xirp1 C A 9: 119,848,668 (GRCm39) A72S probably damaging Het
Zfp212 T C 6: 47,906,011 (GRCm39) V190A probably benign Het
Zfp703 C T 8: 27,469,233 (GRCm39) P299L probably damaging Het
Other mutations in Casp6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02353:Casp6 APN 3 129,704,175 (GRCm39) missense probably damaging 1.00
IGL02360:Casp6 APN 3 129,704,175 (GRCm39) missense probably damaging 1.00
P0005:Casp6 UTSW 3 129,705,792 (GRCm39) missense probably benign 0.41
R0233:Casp6 UTSW 3 129,699,624 (GRCm39) missense probably damaging 1.00
R0233:Casp6 UTSW 3 129,699,624 (GRCm39) missense probably damaging 1.00
R0277:Casp6 UTSW 3 129,704,172 (GRCm39) missense probably benign 0.22
R4167:Casp6 UTSW 3 129,706,993 (GRCm39) missense probably damaging 1.00
R6662:Casp6 UTSW 3 129,705,875 (GRCm39) missense probably benign 0.22
R7605:Casp6 UTSW 3 129,705,812 (GRCm39) missense probably benign
R7653:Casp6 UTSW 3 129,705,872 (GRCm39) missense probably benign 0.00
R7750:Casp6 UTSW 3 129,705,858 (GRCm39) missense probably damaging 1.00
R9497:Casp6 UTSW 3 129,699,559 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- AGAAACACTGTAGCCTGGCC -3'
(R):5'- CACACAGAGTTTTATAGCTGAGATC -3'

Sequencing Primer
(F):5'- TGTAGCCTGGCCAACTGAGAC -3'
(R):5'- ATAGCTGAGATCAGTCTTACCTGG -3'
Posted On 2016-07-22