Incidental Mutation 'R6139:Cma1'
ID 488505
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 044286-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.106) question?
Stock # R6139 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 56178908-56182132 bp(-) (GRCm39)
Type of Mutation critical splice acceptor site
DNA Base Change (assembly) T to A at 56180157 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000154406 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022834] [ENSMUST00000022834] [ENSMUST00000226280] [ENSMUST00000226280]
AlphaFold P21844
Predicted Effect probably null
Transcript: ENSMUST00000022834
SMART Domains Protein: ENSMUSP00000022834
Gene: ENSMUSG00000022225

DomainStartEndE-ValueType
signal peptide 1 32 N/A INTRINSIC
Tryp_SPc 34 253 4.85e-73 SMART
Predicted Effect probably null
Transcript: ENSMUST00000022834
SMART Domains Protein: ENSMUSP00000022834
Gene: ENSMUSG00000022225

DomainStartEndE-ValueType
signal peptide 1 32 N/A INTRINSIC
Tryp_SPc 34 253 4.85e-73 SMART
Predicted Effect probably null
Transcript: ENSMUST00000226280
Predicted Effect probably null
Transcript: ENSMUST00000226280
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.4%
  • 20x: 95.7%
Validation Efficiency 100% (50/50)
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
6030468B19Rik A G 11: 117,697,150 (GRCm39) T250A probably damaging Het
Acacb T C 5: 114,350,713 (GRCm39) I1074T probably damaging Het
Acsl6 C A 11: 54,231,368 (GRCm39) P462T probably damaging Het
Aebp1 A G 11: 5,821,842 (GRCm39) D747G probably damaging Het
Antxr2 A C 5: 98,125,565 (GRCm39) probably null Het
Arhgap35 T C 7: 16,297,392 (GRCm39) T558A possibly damaging Het
Asap1 T A 15: 64,038,388 (GRCm39) I223F possibly damaging Het
C2cd5 A C 6: 142,980,784 (GRCm39) D669E probably damaging Het
Casz1 C T 4: 149,036,154 (GRCm39) T1472M probably damaging Het
Catsper4 A G 4: 133,945,177 (GRCm39) L154P probably damaging Het
Cep350 T C 1: 155,829,025 (GRCm39) E293G probably benign Het
Ddx42 C T 11: 106,130,843 (GRCm39) A439V probably damaging Het
Disp2 T A 2: 118,621,143 (GRCm39) L625Q probably damaging Het
Dnah1 T C 14: 31,007,984 (GRCm39) D2141G probably benign Het
Dsp T C 13: 38,376,382 (GRCm39) I1389T probably damaging Het
Fam81a A T 9: 70,010,100 (GRCm39) probably null Het
Fsip2 A G 2: 82,821,388 (GRCm39) D5707G possibly damaging Het
Gcnt4 G A 13: 97,083,360 (GRCm39) V219I probably benign Het
Gk2 A G 5: 97,604,139 (GRCm39) V233A probably benign Het
Grm1 T C 10: 10,622,075 (GRCm39) probably benign Het
Gsap T A 5: 21,486,538 (GRCm39) V649D probably damaging Het
Kif1b G A 4: 149,321,989 (GRCm39) H977Y possibly damaging Het
Ktn1 T A 14: 47,963,672 (GRCm39) probably null Het
Lgals12 T A 19: 7,581,742 (GRCm39) T29S probably benign Het
Me3 G T 7: 89,282,108 (GRCm39) probably benign Het
Mgst3 T G 1: 167,205,874 (GRCm39) K35T possibly damaging Het
Mtmr9 T C 14: 63,767,227 (GRCm39) R354G probably benign Het
Myh11 T C 16: 14,033,738 (GRCm39) E1059G probably damaging Het
Nr4a2 T A 2: 56,998,701 (GRCm39) H408L probably damaging Het
Or56b35 A T 7: 104,963,453 (GRCm39) T81S probably damaging Het
Or5ak23 A T 2: 85,244,690 (GRCm39) F178I probably damaging Het
Pds5b T A 5: 150,724,242 (GRCm39) L1275Q possibly damaging Het
Pfkfb4 A G 9: 108,856,825 (GRCm39) Y412C probably damaging Het
Pop1 T A 15: 34,529,204 (GRCm39) C745S probably benign Het
Ptpn14 T G 1: 189,583,362 (GRCm39) S736R probably benign Het
Rdh9 A T 10: 127,612,606 (GRCm39) T85S possibly damaging Het
Rnf223 T C 4: 156,217,260 (GRCm39) C212R probably damaging Het
Rnf39 A G 17: 37,254,230 (GRCm39) E84G probably damaging Het
Sfmbt1 T A 14: 30,533,375 (GRCm39) V584D probably damaging Het
Slc12a5 T A 2: 164,834,231 (GRCm39) S728T probably damaging Het
Slc16a12 T A 19: 34,648,295 (GRCm39) probably null Het
Snupn C A 9: 56,890,108 (GRCm39) Q310K possibly damaging Het
St7 T C 6: 17,694,353 (GRCm39) L48P probably damaging Het
Thsd7a T C 6: 12,379,572 (GRCm39) N951D possibly damaging Het
Ttn G A 2: 76,682,413 (GRCm39) R959* probably null Het
Ugt2b36 A T 5: 87,240,030 (GRCm39) D118E probably benign Het
Vmn2r7 G A 3: 64,623,339 (GRCm39) T327I probably damaging Het
Wdr70 T C 15: 8,108,735 (GRCm39) D137G probably benign Het
Wrn A T 8: 33,843,360 (GRCm39) M14K probably damaging Het
Xpot T A 10: 121,447,613 (GRCm39) E283V probably benign 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
R6075:Cma1 UTSW 14 56,179,771 (GRCm39) missense probably damaging 0.97
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'- TCTCCAGGAGTACAATGGAGG -3'
(R):5'- TGAGCCTGTCACTGTCTCTG -3'

Sequencing Primer
(F):5'- GGAGAAGCCTGTTACCTTCAGTAGC -3'
(R):5'- TGTAGCTAAGGATGATGACCTTGAC -3'
Posted On 2017-10-10