Incidental Mutation 'IGL02371:Casp2'
ID290926
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Casp2
Ensembl Gene ENSMUSG00000029863
Gene Namecaspase 2
SynonymsNedd2, Caspase-2, Ich-1
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.407) question?
Stock #IGL02371
Quality Score
Status
Chromosome6
Chromosomal Location42264985-42282508 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 42267968 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 100 (D100E)
Ref Sequence ENSEMBL: ENSMUSP00000121184 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031895] [ENSMUST00000095987] [ENSMUST00000156829]
Predicted Effect probably benign
Transcript: ENSMUST00000031895
AA Change: D100E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000031895
Gene: ENSMUSG00000029863
AA Change: D100E

DomainStartEndE-ValueType
CARD 32 120 2.27e-32 SMART
CASc 191 447 3.27e-129 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000095987
SMART Domains Protein: ENSMUSP00000100590
Gene: ENSMUSG00000071506

DomainStartEndE-ValueType
transmembrane domain 13 32 N/A INTRINSIC
Pfam:TMEM51 58 194 1e-9 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132246
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139930
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141669
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144821
Predicted Effect probably benign
Transcript: ENSMUST00000156829
AA Change: D100E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000121184
Gene: ENSMUSG00000029863
AA Change: D100E

DomainStartEndE-ValueType
CARD 32 120 2.27e-32 SMART
CASc 191 341 8.07e-38 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes the evolutionarily ancient and most conserved member of the cysteine proteases that plays important role in stress-induced apoptosis, DNA repair and tumor suppression. Mice lacking the encoded protein develop normally but display cell type-specific apoptotic defects. Germ cells and oocytes from such mice were found to be resistant to cell death after treatment with chemotherapeutic drugs. [provided by RefSeq, Apr 2015]
PHENOTYPE: Homozygous mutation of this gene results in abnormal apoptosis. Apoptosis is reduced in the female germline, but is increased in sympathetic neurons during development. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arfgef3 T C 10: 18,646,539 T580A probably benign Het
Cd1d1 C A 3: 86,998,881 R29L probably benign Het
Cdc45 C T 16: 18,798,729 M200I probably benign Het
Cyct A G 2: 76,354,090 *106R probably null Het
Enam A G 5: 88,502,809 I726V probably benign Het
Epha3 T G 16: 63,585,020 probably null Het
Erbb4 T C 1: 68,290,294 D632G probably benign Het
Fam217a T C 13: 34,911,401 N125S possibly damaging Het
Fbxo32 A T 15: 58,181,464 probably benign Het
Foxa1 T C 12: 57,542,700 T245A probably damaging Het
Gars T C 6: 55,065,467 V395A probably benign Het
Gimap5 A T 6: 48,753,003 N169I probably damaging Het
Itgav A G 2: 83,770,053 M266V probably damaging Het
Klhl14 G A 18: 21,652,181 S63F probably damaging Het
Lpp G A 16: 24,761,611 A26T probably damaging Het
Lrrc17 T C 5: 21,560,996 Y159H probably damaging Het
Lzts1 A T 8: 69,138,798 S233T probably damaging Het
Mdn1 T C 4: 32,676,860 probably benign Het
Nrf1 A T 6: 30,118,991 I382F possibly damaging Het
Olfr1287 A G 2: 111,450,009 R290G probably damaging Het
Olfr24 G T 9: 18,754,704 S310R probably benign Het
Olfr266 A T 3: 106,822,046 F171Y probably damaging Het
Pde9a T A 17: 31,420,285 V63D possibly damaging Het
Plcg1 T A 2: 160,753,507 N484K probably damaging Het
Plekhg4 T A 8: 105,379,059 probably null Het
Pot1b A G 17: 55,695,092 Y161H possibly damaging Het
Ptchd4 G A 17: 42,316,974 G109S possibly damaging Het
Rad51ap1 T C 6: 126,927,564 N119S probably benign Het
Rbm22 C T 18: 60,571,956 probably benign Het
Stk36 T A 1: 74,622,255 S480R probably benign Het
Ugt2b5 A T 5: 87,127,676 probably null Het
Other mutations in Casp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00826:Casp2 APN 6 42269285 nonsense probably null
IGL02094:Casp2 APN 6 42280359 missense probably damaging 1.00
IGL02414:Casp2 APN 6 42280446 missense probably damaging 1.00
IGL03298:Casp2 APN 6 42268990 splice site probably benign
R1240:Casp2 UTSW 6 42268945 missense probably damaging 1.00
R1424:Casp2 UTSW 6 42276791 splice site probably benign
R1672:Casp2 UTSW 6 42268908 missense probably damaging 1.00
R4110:Casp2 UTSW 6 42267894 missense probably damaging 1.00
R4113:Casp2 UTSW 6 42267894 missense probably damaging 1.00
R5062:Casp2 UTSW 6 42269272 splice site probably benign
R5469:Casp2 UTSW 6 42269334 missense probably benign 0.00
R5835:Casp2 UTSW 6 42267586 missense possibly damaging 0.84
R5877:Casp2 UTSW 6 42276637 intron probably benign
R6103:Casp2 UTSW 6 42279880 missense probably damaging 0.99
R6667:Casp2 UTSW 6 42279836 missense probably damaging 1.00
R6702:Casp2 UTSW 6 42268051 missense probably benign
R6754:Casp2 UTSW 6 42269330 missense probably damaging 1.00
R7141:Casp2 UTSW 6 42280395 missense possibly damaging 0.68
R7255:Casp2 UTSW 6 42268907 missense probably damaging 1.00
R7611:Casp2 UTSW 6 42274038 missense possibly damaging 0.95
X0065:Casp2 UTSW 6 42280143 missense possibly damaging 0.95
Posted On2015-04-16