Incidental Mutation 'IGL03289:Mcpt2'
ID415824
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mcpt2
Ensembl Gene ENSMUSG00000022226
Gene Namemast cell protease 2
SynonymsMcp-2, MMCP-2, MMCP-2
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.073) question?
Stock #IGL03289
Quality Score
Status
Chromosome14
Chromosomal Location56042041-56044642 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 56044337 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 215 (I215F)
Ref Sequence ENSEMBL: ENSMUSP00000015576 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015576]
Predicted Effect probably damaging
Transcript: ENSMUST00000015576
AA Change: I215F

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000015576
Gene: ENSMUSG00000022226
AA Change: I215F

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Tryp_SPc 20 237 2.09e-86 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap10 A G 11: 61,877,968 probably benign Het
Akap9 A G 5: 4,077,261 Y3703C probably damaging Het
Ankk1 A G 9: 49,415,695 V728A probably benign Het
B3galt2 T C 1: 143,647,304 Y393H probably damaging Het
Cd163l1 T C 7: 140,229,060 probably null Het
Clcn4 T A 7: 7,284,258 I664F probably damaging Het
Clec2e A T 6: 129,098,455 I41N probably damaging Het
Col2a1 A T 15: 97,980,881 N845K unknown Het
Cubn T G 2: 13,426,967 I1272L probably benign Het
Dnajc5 T C 2: 181,547,467 Y79H probably damaging Het
Eml6 G T 11: 29,795,328 A1006E possibly damaging Het
Igsf5 A T 16: 96,525,432 D271V possibly damaging Het
Kalrn G A 16: 34,385,297 A70V possibly damaging Het
Kcnn2 A T 18: 45,677,044 K309N probably damaging Het
Lrch4 T C 5: 137,633,577 S22P probably damaging Het
Mrc1 T C 2: 14,308,823 probably null Het
Nelfcd G A 2: 174,426,832 A559T possibly damaging Het
Olfr364-ps1 C T 2: 37,146,578 A122V probably damaging Het
Osbp2 A G 11: 3,863,380 V163A probably benign Het
Pla2g6 G A 15: 79,317,785 P62L probably damaging Het
Senp1 G T 15: 98,085,045 H20Q probably damaging Het
Slc16a6 A G 11: 109,463,499 Y31H probably damaging Het
Thbs2 T A 17: 14,690,122 N72Y probably benign Het
Usp34 T A 11: 23,393,818 S1366T possibly damaging Het
Vmn1r216 T A 13: 23,100,012 D288E possibly damaging Het
Vmn2r11 T C 5: 109,048,922 probably benign Het
Vnn3 A T 10: 23,865,837 S347C possibly damaging Het
Yme1l1 T C 2: 23,160,268 V37A probably benign Het
Zfp597 A T 16: 3,865,922 D323E possibly damaging Het
Other mutations in Mcpt2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0749:Mcpt2 UTSW 14 56043679 splice site probably null
R1186:Mcpt2 UTSW 14 56043945 splice site probably benign
R1856:Mcpt2 UTSW 14 56043699 missense probably benign 0.32
R2179:Mcpt2 UTSW 14 56042116 utr 5 prime probably benign
R5327:Mcpt2 UTSW 14 56043376 missense probably damaging 0.98
R8116:Mcpt2 UTSW 14 56042206 missense probably damaging 1.00
Posted On2016-08-02