Incidental Mutation 'R7605:Casp6'
ID 588219
Institutional Source Beutler Lab
Gene Symbol Casp6
Ensembl Gene ENSMUSG00000027997
Gene Name caspase 6
Synonyms Mch2, mCASP-6
MMRRC Submission 045675-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.335) question?
Stock # R7605 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 129695074-129707752 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 129705812 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 160 (M160L)
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: M160L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000029626
Gene: ENSMUSG00000027997
AA Change: M160L

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: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
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
Abcb5 A G 12: 118,881,899 (GRCm39) L610P probably damaging Het
Acta2 G A 19: 34,229,931 (GRCm39) T8I probably benign Het
Asphd2 A G 5: 112,539,807 (GRCm39) W9R probably damaging Het
Blvrb T A 7: 27,165,218 (GRCm39) H179Q probably damaging Het
Capn13 A T 17: 73,652,132 (GRCm39) probably null Het
Chordc1 A G 9: 18,215,668 (GRCm39) E140G probably benign Het
Col24a1 A T 3: 145,244,442 (GRCm39) Y1572F possibly damaging Het
Cul9 A G 17: 46,852,658 (GRCm39) S235P probably damaging Het
Cyp2u1 A T 3: 131,091,602 (GRCm39) M306K probably damaging Het
Dhx33 A G 11: 70,890,299 (GRCm39) L240P probably damaging Het
Dna2 T A 10: 62,796,054 (GRCm39) D494E probably benign Het
Dnah7c C T 1: 46,671,470 (GRCm39) R1620C probably damaging Het
Dpp8 G A 9: 64,962,240 (GRCm39) V427M probably benign Het
Dpt G A 1: 164,624,400 (GRCm39) G34S unknown Het
Emb T A 13: 117,401,046 (GRCm39) N198K probably damaging Het
Entpd5 T G 12: 84,443,482 (GRCm39) H62P probably damaging Het
Ep300 A C 15: 81,505,353 (GRCm39) M658L unknown Het
Epb41l4a T A 18: 33,930,504 (GRCm39) D651V probably damaging Het
Epha7 C T 4: 28,871,937 (GRCm39) S422L probably benign Het
Ephb2 A T 4: 136,498,419 (GRCm39) V220E probably damaging Het
Fam187a T A 11: 102,776,874 (GRCm39) L226H possibly damaging Het
Fbxo42 G A 4: 140,927,129 (GRCm39) A470T probably benign Het
Fcgrt C T 7: 44,744,675 (GRCm39) W264* probably null Het
Flt3 A C 5: 147,286,386 (GRCm39) H733Q probably benign Het
Gabrr2 A G 4: 33,082,560 (GRCm39) D228G probably damaging Het
Gars1 T C 6: 55,054,735 (GRCm39) S681P probably damaging Het
Gata2 T C 6: 88,177,390 (GRCm39) V140A possibly damaging Het
Gm8232 A T 14: 44,672,384 (GRCm39) N100I Het
Grik4 A G 9: 42,599,367 (GRCm39) C37R probably damaging Het
Grm8 T C 6: 27,618,678 (GRCm39) E388G probably damaging Het
Hivep3 CGG CG 4: 119,955,108 (GRCm39) 1141 probably null Het
Igsf9b C T 9: 27,234,608 (GRCm39) T491I probably damaging Het
Impa1 C T 3: 10,389,147 (GRCm39) V105I probably damaging Het
Inf2 A G 12: 112,567,771 (GRCm39) T134A probably damaging Het
Itgb4 T A 11: 115,897,302 (GRCm39) V1521E probably benign Het
Iws1 T A 18: 32,222,540 (GRCm39) D623E probably benign Het
Lhfpl5 T C 17: 28,795,305 (GRCm39) S111P possibly damaging Het
Lyzl1 T C 18: 4,169,244 (GRCm39) C83R probably damaging Het
Madd G A 2: 91,000,055 (GRCm39) T617M possibly damaging Het
Magi2 A G 5: 20,433,383 (GRCm39) T163A probably damaging Het
Mdn1 C A 4: 32,694,599 (GRCm39) H1107Q probably damaging Het
Mfsd14b A T 13: 65,214,591 (GRCm39) Y454N probably benign Het
Mrgprb3 T A 7: 48,292,862 (GRCm39) I230F probably benign Het
Mroh2b C T 15: 4,974,505 (GRCm39) L1162F probably damaging Het
Or11i1 G T 3: 106,729,337 (GRCm39) H179Q probably damaging Het
Or2aj5 T C 16: 19,425,022 (GRCm39) Y131C probably damaging Het
Or51f23b C T 7: 102,402,952 (GRCm39) M61I probably benign Het
Or51m1 T C 7: 103,578,075 (GRCm39) L15P probably damaging Het
Or5ar1 A G 2: 85,671,383 (GRCm39) F251L probably benign Het
Or9e1 A G 11: 58,732,326 (GRCm39) I129V probably benign Het
Pclo T C 5: 14,729,050 (GRCm39) L2636P unknown Het
Pfkm G A 15: 98,019,191 (GRCm39) A181T probably damaging Het
Pik3r1 C T 13: 101,839,346 (GRCm39) A169T probably benign Het
R3hdml T A 2: 163,337,688 (GRCm39) M114K probably damaging Het
Robo1 C A 16: 72,821,189 (GRCm39) R1310S probably benign Het
Scnm1 A T 3: 95,040,186 (GRCm39) N115K probably benign Het
Sfn A G 4: 133,328,548 (GRCm39) V178A probably damaging Het
Shank2 C T 7: 143,645,516 (GRCm39) T366I possibly damaging Het
Siah1a T C 8: 87,451,953 (GRCm39) D177G probably damaging Het
Slc37a2 A C 9: 37,148,624 (GRCm39) I286S possibly damaging Het
Smarce1 T C 11: 99,119,118 (GRCm39) T12A probably benign Het
Spata31d1c T A 13: 65,183,654 (GRCm39) S399T probably benign Het
Specc1 A G 11: 62,102,506 (GRCm39) S942G possibly damaging Het
Syt13 T C 2: 92,773,478 (GRCm39) F164S probably benign Het
Topbp1 A T 9: 103,209,905 (GRCm39) T851S probably benign Het
Ttn A T 2: 76,800,015 (GRCm39) S398T unknown Het
Vmn1r12 T C 6: 57,136,521 (GRCm39) V206A probably damaging Het
Vmn1r224 G A 17: 20,640,221 (GRCm39) W266* probably null Het
Vmn2r68 T C 7: 84,883,116 (GRCm39) D212G probably benign Het
Vps13b G T 15: 35,770,792 (GRCm39) K2078N probably damaging Het
Zfp251 A C 15: 76,738,557 (GRCm39) F179V possibly 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
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'- AGCTTGCATCTCTCAGAGCC -3'
(R):5'- TTGTGGAAAACCACTCCAATTC -3'

Sequencing Primer
(F):5'- GCATCTCTCAGAGCCTGATTG -3'
(R):5'- TCCAATTCAAAGGTGACAGGC -3'
Posted On 2019-10-24