Incidental Mutation 'R7653:Casp6'
ID 580459
Institutional Source Beutler Lab
Gene Symbol Casp6
Ensembl Gene ENSMUSG00000027997
Gene Name caspase 6
Synonyms Mch2, mCASP-6
MMRRC Submission 045730-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.422) question?
Stock # R7653 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 129695074-129707752 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 129705872 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 180 (Y180H)
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 probably benign
Transcript: ENSMUST00000029626
AA Change: Y180H

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000029626
Gene: ENSMUSG00000027997
AA Change: Y180H

DomainStartEndE-ValueType
CASc 19 272 6.84e-132 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000146340
SMART Domains Protein: ENSMUSP00000115224
Gene: ENSMUSG00000027994

DomainStartEndE-ValueType
Pfam:MCU 34 149 2.4e-19 PFAM
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: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A730049H05Rik A T 6: 92,805,050 (GRCm39) Q70L unknown Het
Adamts12 T A 15: 11,257,115 (GRCm39) N489K probably benign Het
Alms1 A G 6: 85,597,577 (GRCm39) D801G possibly damaging Het
Apex1 T G 14: 51,163,995 (GRCm39) N173K probably damaging Het
Arhgap32 A T 9: 32,168,441 (GRCm39) N808I probably benign Het
Arhgef28 T C 13: 98,105,821 (GRCm39) Y706C probably benign Het
Atg2b A T 12: 105,602,731 (GRCm39) F1604Y possibly damaging Het
Atm A T 9: 53,401,602 (GRCm39) Y1422* probably null Het
Bace2 T A 16: 97,237,852 (GRCm39) V38E Het
Birc6 C A 17: 74,954,729 (GRCm39) L3442I possibly damaging Het
C6 T A 15: 4,844,244 (GRCm39) S889T Het
Calcrl A T 2: 84,175,529 (GRCm39) L275* probably null Het
Cd5 T C 19: 10,703,910 (GRCm39) M51V probably benign Het
Cdhr1 G T 14: 36,804,158 (GRCm39) P500Q probably benign Het
Celsr3 G A 9: 108,712,269 (GRCm39) W1732* probably null Het
Ces2g T C 8: 105,689,285 (GRCm39) V87A probably damaging Het
Chil6 T C 3: 106,301,641 (GRCm39) N153S possibly damaging Het
Chrna5 A T 9: 54,909,718 (GRCm39) D113V probably benign Het
Cimip2b T G 4: 43,427,273 (GRCm39) probably null Het
Cox20 A G 1: 178,150,164 (GRCm39) T113A probably benign Het
Cryl1 T C 14: 57,541,148 (GRCm39) I179V probably benign Het
Dennd3 A G 15: 73,434,275 (GRCm39) T982A probably damaging Het
Drosha G A 15: 12,859,522 (GRCm39) V577I probably benign Het
Dync2h1 A G 9: 7,117,570 (GRCm39) S2240P probably benign Het
Eif1ad14 T A 12: 87,886,248 (GRCm39) D127V unknown Het
Fbxl5 C T 5: 43,916,116 (GRCm39) S432N probably benign Het
Fez1 T A 9: 36,772,146 (GRCm39) S150R probably benign Het
Gabrb2 T G 11: 42,378,039 (GRCm39) M85R probably damaging Het
Lhx4 A G 1: 155,580,617 (GRCm39) V203A probably damaging Het
Med23 G A 10: 24,780,282 (GRCm39) D977N probably damaging Het
Mplkip T C 13: 17,870,367 (GRCm39) F100L probably damaging Het
Ncoa7 C T 10: 30,570,239 (GRCm39) G240E probably damaging Het
Nedd4 A G 9: 72,650,910 (GRCm39) E827G probably damaging Het
Nfatc2 A G 2: 168,413,065 (GRCm39) F207L probably benign Het
Nr2f1 A T 13: 78,343,716 (GRCm39) S183T probably benign Het
Ocel1 A G 8: 71,824,560 (GRCm39) E81G probably benign Het
Or10aa3 T C 1: 173,878,488 (GRCm39) V183A probably benign Het
Or10g3b C A 14: 52,586,889 (GRCm39) G205* probably null Het
Or4n4b C T 14: 50,536,604 (GRCm39) G54E possibly damaging Het
Pcdh8 G A 14: 80,005,086 (GRCm39) P980S probably benign Het
Pex26 A T 6: 121,170,510 (GRCm39) Q285L possibly damaging Het
Pgap6 T A 17: 26,339,423 (GRCm39) M579K probably damaging Het
Plce1 A T 19: 38,737,763 (GRCm39) N1603I probably benign Het
Poli A T 18: 70,642,698 (GRCm39) C501S probably benign Het
Ppp4r4 C T 12: 103,550,404 (GRCm39) T276I probably damaging Het
Rbpj T A 5: 53,747,693 (GRCm39) M1K probably null Het
Recql4 T A 15: 76,587,982 (GRCm39) M1204L probably benign Het
Ribc2 T C 15: 85,025,876 (GRCm39) I284T probably benign Het
Rreb1 C A 13: 38,114,362 (GRCm39) Q574K probably benign Het
Scn9a A T 2: 66,357,424 (GRCm39) L959Q probably damaging Het
Shank1 C A 7: 43,969,093 (GRCm39) H329Q unknown Het
Soat2 A T 15: 102,071,013 (GRCm39) D469V probably damaging Het
Spag7 T A 11: 70,555,691 (GRCm39) H82L probably damaging Het
Sptb T C 12: 76,675,271 (GRCm39) I248V probably benign Het
Tacr3 A G 3: 134,566,843 (GRCm39) I239V probably benign Het
Tbc1d1 T C 5: 64,414,133 (GRCm39) F165L probably benign Het
Tchhl1 A G 3: 93,378,451 (GRCm39) E385G probably benign Het
Tecta C T 9: 42,248,532 (GRCm39) D1957N probably damaging Het
Tenm2 T C 11: 35,938,174 (GRCm39) I1501V probably benign Het
Tet2 G T 3: 133,192,146 (GRCm39) Q763K probably benign Het
Timd6 A C 11: 46,475,200 (GRCm39) S132R probably benign Het
Tox3 G A 8: 90,975,617 (GRCm39) T338I probably damaging Het
Usp30 G A 5: 114,259,730 (GRCm39) D479N probably damaging Het
Vmn1r27 T C 6: 58,192,785 (GRCm39) D73G possibly damaging Het
Vmn1r27 A T 6: 58,192,879 (GRCm39) S42T probably benign Het
Vmn2r120 A T 17: 57,816,258 (GRCm39) V699D possibly damaging Het
Vwa2 A T 19: 56,897,767 (GRCm39) T691S probably benign Het
Wdr31 T A 4: 62,381,666 (GRCm39) Q55L probably benign Het
Xdh A G 17: 74,204,040 (GRCm39) F1107L probably benign Het
Zfp184 A G 13: 22,143,887 (GRCm39) H531R probably damaging Het
Zfp366 T C 13: 99,365,709 (GRCm39) L290P 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
R5297:Casp6 UTSW 3 129,704,204 (GRCm39) missense possibly damaging 0.83
R6662:Casp6 UTSW 3 129,705,875 (GRCm39) missense probably benign 0.22
R7605:Casp6 UTSW 3 129,705,812 (GRCm39) missense probably benign
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'- TTCTCACGGGAGGTATGCTG -3'
(R):5'- AGAAAGGACCCCTTCACTGTG -3'

Sequencing Primer
(F):5'- CGGGAGGTATGCTGAATTACATACTC -3'
(R):5'- AAGGACCCCTTCACTGTGATTAGG -3'
Posted On 2019-10-07