Incidental Mutation 'R2907:Mcpt1'
ID 261707
Institutional Source Beutler Lab
Gene Symbol Mcpt1
Ensembl Gene ENSMUSG00000022227
Gene Name mast cell protease 1
Synonyms Mcp-1
MMRRC Submission 040494-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.064) question?
Stock # R2907 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 56255428-56257841 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 56257580 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 242 (V242A)
Ref Sequence ENSEMBL: ENSMUSP00000022836 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022836]
AlphaFold P11034
Predicted Effect probably damaging
Transcript: ENSMUST00000022836
AA Change: V242A

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000022836
Gene: ENSMUSG00000022227
AA Change: V242A

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Tryp_SPc 20 239 1.01e-84 SMART
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.6%
Validation Efficiency 97% (37/38)
MGI Phenotype PHENOTYPE: Mice homozygous for disruptions in this gene display an increased succeptibility to parasitic infections which cause increased numbers of intestinal mucosal mast cells. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actl6b A G 5: 137,565,559 (GRCm39) E385G probably damaging Het
Adam32 A T 8: 25,353,520 (GRCm39) W690R probably damaging Het
Ap1b1 T A 11: 4,981,641 (GRCm39) N516K probably damaging Het
Arap3 G A 18: 38,123,580 (GRCm39) P452L possibly damaging Het
Armcx6 A T X: 133,650,199 (GRCm39) C211S probably damaging Het
Asns A G 6: 7,675,506 (GRCm39) S499P probably benign Het
Aspn G T 13: 49,705,374 (GRCm39) V79F probably damaging Het
Astn2 A G 4: 65,563,093 (GRCm39) I844T possibly damaging Het
Asxl3 A T 18: 22,650,330 (GRCm39) H773L possibly damaging Het
Atp7b G A 8: 22,501,570 (GRCm39) T781I probably damaging Het
Bcl6 G A 16: 23,786,869 (GRCm39) R641W probably damaging Het
Csmd3 T A 15: 47,874,449 (GRCm39) I612F probably damaging Het
Dnm1l A T 16: 16,132,175 (GRCm39) S666T probably damaging Het
Gucy2c A T 6: 136,685,385 (GRCm39) V852E probably damaging Het
H2-T3 G A 17: 36,498,347 (GRCm39) R233C possibly damaging Het
Igfbp4 A G 11: 98,932,377 (GRCm39) probably benign Het
Igkv16-104 T C 6: 68,402,911 (GRCm39) I68T probably damaging Het
Kansl1 T A 11: 104,315,286 (GRCm39) S251C possibly damaging Het
Kcnk1 G T 8: 126,722,538 (GRCm39) V114L probably benign Het
Klra3 G T 6: 130,310,302 (GRCm39) Q73K probably damaging Het
Nek10 C A 14: 14,980,613 (GRCm38) Q990K possibly damaging Het
Nlrp4d A T 7: 10,112,354 (GRCm39) V605E probably benign Het
Or10w1 C T 19: 13,632,611 (GRCm39) P268S possibly damaging Het
Or5an1b T C 19: 12,300,032 (GRCm39) D53G probably damaging Het
Or5d46 T C 2: 88,170,827 (GRCm39) I306T probably benign Het
Osbpl1a A G 18: 13,004,129 (GRCm39) probably benign Het
Otud4 T A 8: 80,399,697 (GRCm39) S803T probably benign Het
Pax9 C T 12: 56,756,529 (GRCm39) T289I probably benign Het
Pcdha5 A C 18: 37,093,868 (GRCm39) I126L possibly damaging Het
Psmd4 G T 3: 94,941,273 (GRCm39) A55E probably damaging Het
Rab36 G A 10: 74,880,328 (GRCm39) V63I probably damaging Het
Rbm26 T A 14: 105,380,270 (GRCm39) T516S probably benign Het
Sdr42e1 G A 8: 118,389,511 (GRCm39) L377F probably damaging Het
Setdb1 T C 3: 95,234,512 (GRCm39) probably benign Het
Uba3 T C 6: 97,180,514 (GRCm39) E21G probably benign Het
Uggt2 C T 14: 119,256,919 (GRCm39) S1105N probably benign Het
Zfp113 T C 5: 138,143,219 (GRCm39) N344D probably benign Het
Zfp738 T C 13: 67,818,231 (GRCm39) I587V probably benign Het
Other mutations in Mcpt1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0104:Mcpt1 UTSW 14 56,256,888 (GRCm39) missense possibly damaging 0.65
R1458:Mcpt1 UTSW 14 56,256,621 (GRCm39) splice site probably benign
R1473:Mcpt1 UTSW 14 56,256,990 (GRCm39) missense probably benign 0.01
R1939:Mcpt1 UTSW 14 56,256,546 (GRCm39) missense possibly damaging 0.95
R3966:Mcpt1 UTSW 14 56,256,503 (GRCm39) missense probably benign 0.14
R4235:Mcpt1 UTSW 14 56,256,017 (GRCm39) critical splice acceptor site probably null
R4594:Mcpt1 UTSW 14 56,256,109 (GRCm39) missense probably benign 0.00
R4754:Mcpt1 UTSW 14 56,256,137 (GRCm39) missense probably damaging 1.00
R4836:Mcpt1 UTSW 14 56,257,017 (GRCm39) missense probably damaging 1.00
R5743:Mcpt1 UTSW 14 56,256,072 (GRCm39) missense probably benign 0.41
R5888:Mcpt1 UTSW 14 56,256,969 (GRCm39) missense probably benign 0.14
R6925:Mcpt1 UTSW 14 56,256,522 (GRCm39) missense probably damaging 1.00
R7780:Mcpt1 UTSW 14 56,256,609 (GRCm39) critical splice donor site probably null
R8712:Mcpt1 UTSW 14 56,256,170 (GRCm39) critical splice donor site probably benign
R8885:Mcpt1 UTSW 14 56,256,522 (GRCm39) missense probably damaging 1.00
R8903:Mcpt1 UTSW 14 56,257,520 (GRCm39) missense probably benign 0.14
R9307:Mcpt1 UTSW 14 56,256,867 (GRCm39) missense possibly damaging 0.55
Predicted Primers PCR Primer
(F):5'- GACTCTAGACAGACAGGACCTC -3'
(R):5'- ATCCTCAAAGGGACAGCTGG -3'

Sequencing Primer
(F):5'- GGACCTCATACACCATTCCATGTTAG -3'
(R):5'- TGGGGACAGAATGGGGGC -3'
Posted On 2015-01-23