Incidental Mutation 'R3124:Mcpt8'
ID 264209
Institutional Source Beutler Lab
Gene Symbol Mcpt8
Ensembl Gene ENSMUSG00000022157
Gene Name mast cell protease 8
Synonyms MMCP-8
MMRRC Submission 040597-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.054) question?
Stock # R3124 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 56319623-56322730 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 56321398 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Lysine at position 22 (I22K)
Ref Sequence ENSEMBL: ENSMUSP00000015594 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015594] [ENSMUST00000225107]
AlphaFold P43430
Predicted Effect probably damaging
Transcript: ENSMUST00000015594
AA Change: I22K

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000015594
Gene: ENSMUSG00000022157
AA Change: I22K

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Tryp_SPc 20 237 1.65e-75 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184701
Predicted Effect possibly damaging
Transcript: ENSMUST00000225107
AA Change: I22K

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency 100% (40/40)
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-in mutation that allows diphtheria toxin-mediated basophil depletion before the second tick infestation exhibit loss of acquired tick resistance. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd16b G A 2: 181,136,319 (GRCm39) R407H possibly damaging Het
Bag4 C T 8: 26,259,516 (GRCm39) A228T probably benign Het
Cadm1 A G 9: 47,710,775 (GRCm39) E226G possibly damaging Het
Caskin2 T C 11: 115,695,623 (GRCm39) D246G probably damaging Het
Cd80 T A 16: 38,294,255 (GRCm39) V46E probably damaging Het
Ctr9 C T 7: 110,652,653 (GRCm39) R984C unknown Het
Dach2 T C X: 112,729,664 (GRCm39) I417T possibly damaging Het
Dcaf8l A T X: 88,448,327 (GRCm39) Y601N probably benign Het
Drd3 T C 16: 43,643,155 (GRCm39) F464L probably damaging Het
Dyrk1a G A 16: 94,469,660 (GRCm39) probably benign Het
Fam227b T C 2: 125,966,006 (GRCm39) T140A probably benign Het
Fam91a1 A G 15: 58,293,738 (GRCm39) I101V probably benign Het
Fem1b T C 9: 62,703,836 (GRCm39) I475V probably benign Het
Glra3 A G 8: 56,578,244 (GRCm39) R434G possibly damaging Het
Hsd17b12 C T 2: 93,864,303 (GRCm39) R268Q probably benign Het
Iglc3 T C 16: 18,884,345 (GRCm39) probably benign Het
Khdrbs2 C A 1: 32,558,858 (GRCm39) R408L probably damaging Het
Loxhd1 A G 18: 77,518,774 (GRCm39) D1860G probably damaging Het
Myo1h A G 5: 114,466,860 (GRCm39) I303V probably benign Het
Nipsnap2 G A 5: 129,825,098 (GRCm39) probably null Het
Nop2 G A 6: 125,109,164 (GRCm39) probably benign Het
Polr2a A T 11: 69,626,536 (GRCm39) S1566T possibly damaging Het
Pthlh A T 6: 147,164,789 (GRCm39) V27E probably damaging Het
Ralgps1 T C 2: 33,048,968 (GRCm39) T314A possibly damaging Het
Robo4 CGG CG 9: 37,322,786 (GRCm39) probably null Het
Skil A G 3: 31,151,487 (GRCm39) N3S probably benign Het
Tas2r129 A G 6: 132,928,411 (GRCm39) N116S probably damaging Het
Tas2r140 T A 6: 133,032,204 (GRCm39) I185L probably benign Het
Tnpo1 GCACCTCTGCTTCCTC GCACCTCTGCTTCCTCACCTCTGCTTCCTC 13: 99,003,637 (GRCm39) probably null Het
Togaram1 G T 12: 65,013,118 (GRCm39) R123L probably damaging Het
Trappc9 G A 15: 72,897,816 (GRCm39) R377W probably damaging Het
Trim12a G T 7: 103,950,063 (GRCm39) T292K probably benign Het
Trim9 C T 12: 70,295,167 (GRCm39) G648R probably damaging Het
Trmt13 T C 3: 116,383,893 (GRCm39) I104V probably benign Het
Vav3 G A 3: 109,535,484 (GRCm39) probably null Het
Vmn1r87 A G 7: 12,865,493 (GRCm39) Y265H probably damaging Het
Zfp574 G T 7: 24,781,026 (GRCm39) A683S possibly damaging Het
Other mutations in Mcpt8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01344:Mcpt8 APN 14 56,321,402 (GRCm39) missense probably damaging 1.00
IGL01960:Mcpt8 APN 14 56,319,864 (GRCm39) splice site probably null
R0973:Mcpt8 UTSW 14 56,321,257 (GRCm39) splice site probably benign
R1472:Mcpt8 UTSW 14 56,319,791 (GRCm39) missense probably benign 0.02
R1908:Mcpt8 UTSW 14 56,321,291 (GRCm39) missense probably benign 0.03
R2131:Mcpt8 UTSW 14 56,319,740 (GRCm39) missense probably damaging 1.00
R3123:Mcpt8 UTSW 14 56,321,398 (GRCm39) missense probably damaging 0.98
R3125:Mcpt8 UTSW 14 56,321,398 (GRCm39) missense probably damaging 0.98
R4209:Mcpt8 UTSW 14 56,321,375 (GRCm39) missense probably damaging 1.00
R4211:Mcpt8 UTSW 14 56,321,375 (GRCm39) missense probably damaging 1.00
R4658:Mcpt8 UTSW 14 56,321,285 (GRCm39) missense possibly damaging 0.46
R4860:Mcpt8 UTSW 14 56,319,737 (GRCm39) missense probably benign 0.02
R4860:Mcpt8 UTSW 14 56,319,737 (GRCm39) missense probably benign 0.02
R5457:Mcpt8 UTSW 14 56,319,793 (GRCm39) missense probably benign 0.04
R5900:Mcpt8 UTSW 14 56,319,740 (GRCm39) missense probably damaging 1.00
R6334:Mcpt8 UTSW 14 56,322,604 (GRCm39) missense possibly damaging 0.90
R6339:Mcpt8 UTSW 14 56,319,794 (GRCm39) missense probably benign 0.00
R7505:Mcpt8 UTSW 14 56,320,548 (GRCm39) missense probably benign 0.05
Z1177:Mcpt8 UTSW 14 56,319,793 (GRCm39) missense probably benign 0.02
Predicted Primers PCR Primer
(F):5'- GTTTAGGGACAGCCAGGATC -3'
(R):5'- TTTGTGTGATCTCTCGCAGC -3'

Sequencing Primer
(F):5'- TTGGTTAGTCCCAGGCATCAAAG -3'
(R):5'- TGATCTCTCGCAGCACCCAG -3'
Posted On 2015-02-05