Incidental Mutation 'R6075:Cma1'
ID 482717
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 044236-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.085) question?
Stock # R6075 (G1)
Quality Score 225.009
Status Not validated
Chromosome 14
Chromosomal Location 56178908-56182132 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 56179771 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 138 (I138F)
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: I151F

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000022834
Gene: ENSMUSG00000022225
AA Change: I151F

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: I138F

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227704
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 94.1%
Validation Efficiency
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afg3l2 G T 18: 67,554,329 (GRCm39) L458M probably damaging Het
Ank3 G A 10: 69,838,395 (GRCm39) R1566K possibly damaging Het
Areg A T 5: 91,291,456 (GRCm39) K133M probably damaging Het
Atxn2l A T 7: 126,091,689 (GRCm39) D1076E possibly damaging Het
Barhl1 T C 2: 28,805,231 (GRCm39) Y154C probably damaging Het
BC048507 A G 13: 68,011,823 (GRCm39) T67A probably benign Het
Cacna1g T A 11: 94,307,491 (GRCm39) I1746F probably damaging Het
Ccdc34 T C 2: 109,874,580 (GRCm39) I313T possibly damaging Het
Col5a2 A G 1: 45,542,008 (GRCm39) S23P unknown Het
Csmd2 C A 4: 128,380,658 (GRCm39) S2071R probably benign Het
Cyp2j11 T G 4: 96,233,322 (GRCm39) N125H probably benign Het
Dchs2 A G 3: 83,262,368 (GRCm39) R2879G possibly damaging Het
Dnah11 A T 12: 118,068,586 (GRCm39) C1591S probably damaging Het
Dock9 C T 14: 121,783,385 (GRCm39) R2038H probably benign Het
Eml2 G A 7: 18,935,088 (GRCm39) V432I probably damaging Het
Fbxo21 G A 5: 118,126,948 (GRCm39) R233H probably damaging Het
Firrm T C 1: 163,805,656 (GRCm39) Y316C probably damaging Het
Gm6526 A G 14: 43,986,331 (GRCm39) I86V probably damaging Het
Gpr107 T A 2: 31,042,384 (GRCm39) V5E probably benign Het
Hat1 A T 2: 71,240,585 (GRCm39) D93V probably benign Het
Kctd21 T A 7: 96,996,614 (GRCm39) L29Q probably damaging Het
Kl C G 5: 150,876,466 (GRCm39) F95L probably damaging Het
Lsamp A G 16: 41,954,788 (GRCm39) K229E probably benign Het
Mcm5 A G 8: 75,840,825 (GRCm39) D210G probably damaging Het
Mdn1 T C 4: 32,689,581 (GRCm39) V930A possibly damaging Het
Megf6 T A 4: 154,347,056 (GRCm39) C652* probably null Het
Nae1 A T 8: 105,251,001 (GRCm39) L196H possibly damaging Het
Ncor1 G T 11: 62,208,675 (GRCm39) D156E probably damaging Het
Nop14 A T 5: 34,817,235 (GRCm39) V52E probably damaging Het
Nova2 G A 7: 18,691,794 (GRCm39) A244T unknown Het
Parp14 A T 16: 35,677,389 (GRCm39) C860S probably damaging Het
Ptpn4 T C 1: 119,692,866 (GRCm39) Y161C probably damaging Het
Ptpn9 T A 9: 56,968,430 (GRCm39) M590K probably benign Het
Ptprq A G 10: 107,361,621 (GRCm39) I2130T probably damaging Het
Pudp C A 18: 50,701,299 (GRCm39) G145W probably damaging Het
Pxk A G 14: 8,150,964 (GRCm38) K423R probably benign Het
Ryr1 A G 7: 28,786,863 (GRCm39) S1584P probably damaging Het
Scap G A 9: 110,207,845 (GRCm39) R518H probably damaging Het
Slc5a12 T C 2: 110,447,092 (GRCm39) L200P probably damaging Het
Sntg1 T A 1: 8,749,338 (GRCm39) *72Y probably null Het
Speer4f1 A C 5: 17,684,482 (GRCm39) Q170P possibly damaging Het
Taar7d A C 10: 23,903,558 (GRCm39) I147L probably benign Het
Tet2 T C 3: 133,177,196 (GRCm39) K1284E possibly damaging Het
Trpm2 A C 10: 77,770,877 (GRCm39) probably null Het
Washc2 T A 6: 116,204,327 (GRCm39) S412T probably benign Het
Zfyve26 A G 12: 79,340,628 (GRCm39) V82A possibly 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
R5275:Cma1 UTSW 14 56,179,157 (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
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'- CTGGCAAGAGACTCACCTTG -3'
(R):5'- GGTCCCCATTGCCCTGAATATC -3'
Posted On 2017-07-14