Incidental Mutation 'R5275:Cma1'
ID 403905
Institutional Source Beutler Lab
Gene Symbol Cma1
Ensembl Gene ENSMUSG00000022225
Gene Name chymase 1, mast cell
Synonyms Mcp-5, Mcpt5, Mcp5, MMCP-5
MMRRC Submission 042838-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.106) question?
Stock # R5275 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 56178908-56182132 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 56179157 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 233 (I233N)
Ref Sequence ENSEMBL: ENSMUSP00000154406 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022834] [ENSMUST00000226280]
AlphaFold P21844
Predicted Effect probably damaging
Transcript: ENSMUST00000022834
AA Change: I246N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000022834
Gene: ENSMUSG00000022225
AA Change: I246N

DomainStartEndE-ValueType
signal peptide 1 32 N/A INTRINSIC
Tryp_SPc 34 253 4.85e-73 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000226280
AA Change: I233N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227704
Meta Mutation Damage Score 0.8851 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
Validation Efficiency 100% (59/59)
MGI Phenotype FUNCTION: This gene encodes a serine protease that belongs to the peptidase family S1. It is expressed in mast cells and is thought to function in the degradation of the extracellular matrix, the regulation of submucosal gland secretion, and the generation of vasoactive peptides. The encoded preproprotein undergoes proteolytic processing to generate a functional enzyme with elastase-like activity. Mice lacking the encoded protein exhibit significant attenuation of ischemia-reperfusion injury of the skeletal muscle. This gene is located in a cluster of related mast cell protease genes on chromosome 14. [provided by RefSeq, Nov 2015]
PHENOTYPE: Mice homozygous for a knock-out allele display a reduction in mast cell-mediated ischemia reperfusion injury of skeletal muscle. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921539E11Rik C T 4: 103,092,856 (GRCm39) R155H probably benign Het
Abcc1 C T 16: 14,284,050 (GRCm39) L1222F probably damaging Het
Alpl T C 4: 137,476,919 (GRCm39) T245A probably benign Het
Ank2 T C 3: 126,825,832 (GRCm39) H378R probably damaging Het
Apold1 G T 6: 134,960,763 (GRCm39) L72F probably damaging Het
Arhgef1 G A 7: 24,618,777 (GRCm39) probably null Het
Atp5f1c T C 2: 10,073,544 (GRCm39) R10G possibly damaging Het
Becn2 A G 1: 175,748,336 (GRCm39) H134R probably benign Het
Ccr10 C T 11: 101,065,111 (GRCm39) V140M possibly damaging Het
Cep135 T A 5: 76,741,051 (GRCm39) H42Q possibly damaging Het
Chd6 A G 2: 160,811,283 (GRCm39) L1440P probably benign Het
Clca3a2 A G 3: 144,519,340 (GRCm39) S279P probably damaging Het
Dnajc16 T C 4: 141,495,239 (GRCm39) E493G possibly damaging Het
Dst T C 1: 34,219,229 (GRCm39) S1890P probably benign Het
Ears2 T C 7: 121,647,421 (GRCm39) R288G probably damaging Het
Elovl4 G A 9: 83,662,714 (GRCm39) P273L possibly damaging Het
Fryl T C 5: 73,270,134 (GRCm39) Y79C probably damaging Het
Gad1-ps A G 10: 99,280,751 (GRCm39) noncoding transcript Het
Gm5117 T A 8: 32,229,595 (GRCm39) noncoding transcript Het
H2-T5 T C 17: 36,472,567 (GRCm39) probably null Het
Lmtk3 G A 7: 45,440,722 (GRCm39) D243N probably damaging Het
Lsm7 T C 10: 80,690,454 (GRCm39) E32G probably damaging Het
Opa1 C T 16: 29,430,397 (GRCm39) T451I probably damaging Het
Or2bd2 A T 7: 6,443,015 (GRCm39) T39S probably benign Het
Or4f15 T A 2: 111,814,174 (GRCm39) I82F probably damaging Het
Or4k1 T A 14: 50,377,953 (GRCm39) I48F probably benign Het
Pcdh12 T A 18: 38,417,154 (GRCm39) probably benign Het
Perm1 T C 4: 156,301,975 (GRCm39) L173P probably benign Het
Plvap T C 8: 71,964,314 (GRCm39) Q16R probably benign Het
Ppan T A 9: 20,801,069 (GRCm39) Y115* probably null Het
Prb1c T G 6: 132,338,840 (GRCm39) Q126P unknown Het
Prl7d1 A T 13: 27,893,230 (GRCm39) V227D probably damaging Het
Prss54 T C 8: 96,291,106 (GRCm39) T165A probably damaging Het
Psrc1 A G 3: 108,293,675 (GRCm39) I195V probably benign Het
Ptpn20 A G 14: 33,353,149 (GRCm39) H296R probably benign Het
Rergl A G 6: 139,478,819 (GRCm39) probably null Het
Rnf123 AT ATT 9: 107,941,202 (GRCm39) probably null Het
Scfd1 A T 12: 51,462,372 (GRCm39) H409L probably benign Het
Serpina3c T C 12: 104,114,637 (GRCm39) E333G probably damaging Het
Serpinb6c A G 13: 34,077,800 (GRCm39) F190S probably damaging Het
Slc24a5 C T 2: 124,927,781 (GRCm39) T360I probably benign Het
Snx6 T C 12: 54,830,807 (GRCm39) H51R probably damaging Het
Sorl1 A T 9: 41,942,198 (GRCm39) V1009D probably benign Het
Tdh T C 14: 63,733,558 (GRCm39) Y110C probably damaging Het
Tdrd9 T A 12: 112,018,346 (GRCm39) L1255* probably null Het
Tlk1 C T 2: 70,582,549 (GRCm39) probably benign Het
Tnc G A 4: 63,882,967 (GRCm39) Q1885* probably null Het
Vcl T C 14: 21,060,146 (GRCm39) V595A probably damaging Het
Vmn1r84 A T 7: 12,095,741 (GRCm39) N305K probably benign Het
Zbtb2 T C 10: 4,318,508 (GRCm39) K506R probably damaging Het
Other mutations in Cma1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01070:Cma1 APN 14 56,180,154 (GRCm39) missense probably benign 0.26
IGL02797:Cma1 APN 14 56,181,271 (GRCm39) missense possibly damaging 0.58
R0026:Cma1 UTSW 14 56,179,621 (GRCm39) missense probably damaging 1.00
R2029:Cma1 UTSW 14 56,181,191 (GRCm39) missense possibly damaging 0.81
R2060:Cma1 UTSW 14 56,181,155 (GRCm39) critical splice donor site probably null
R4994:Cma1 UTSW 14 56,179,128 (GRCm39) missense probably damaging 1.00
R5794:Cma1 UTSW 14 56,181,977 (GRCm39) missense probably benign
R5824:Cma1 UTSW 14 56,179,182 (GRCm39) missense possibly damaging 0.79
R5955:Cma1 UTSW 14 56,181,226 (GRCm39) missense probably benign 0.20
R5958:Cma1 UTSW 14 56,179,113 (GRCm39) makesense probably null
R6075:Cma1 UTSW 14 56,179,771 (GRCm39) missense probably damaging 0.97
R6139:Cma1 UTSW 14 56,180,157 (GRCm39) critical splice acceptor site probably null
R7088:Cma1 UTSW 14 56,181,273 (GRCm39) missense probably damaging 1.00
R7139:Cma1 UTSW 14 56,181,273 (GRCm39) missense probably damaging 1.00
R7220:Cma1 UTSW 14 56,180,120 (GRCm39) missense probably benign
R7988:Cma1 UTSW 14 56,181,989 (GRCm39) missense possibly damaging 0.53
R9171:Cma1 UTSW 14 56,181,189 (GRCm39) missense probably benign 0.28
R9627:Cma1 UTSW 14 56,181,289 (GRCm39) missense probably benign 0.07
R9803:Cma1 UTSW 14 56,179,186 (GRCm39) missense probably benign 0.07
Predicted Primers PCR Primer
(F):5'- CTGTGACTTGTAAGAACCTTCTG -3'
(R):5'- CCAAGGCAATGATGTGGCATC -3'

Sequencing Primer
(F):5'- GACTTGTAAGAACCTTCTGGAAGCTC -3'
(R):5'- ATGTGGCATCAGGCTCTAGAC -3'
Posted On 2016-07-22