Incidental Mutation 'IGL01070:Cma1'
ID 52654
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cma1
Ensembl Gene ENSMUSG00000022225
Gene Name chymase 1, mast cell
Synonyms Mcp-5, Mcpt5, Mcp5, MMCP-5
Accession Numbers
Essential gene? Probably non essential (E-score: 0.085) question?
Stock # IGL01070
Quality Score
Chromosome 14
Chromosomal Location 56178908-56182132 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 56180154 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 71 (S71P)
Ref Sequence ENSEMBL: ENSMUSP00000154406 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022834] [ENSMUST00000226280]
AlphaFold P21844
Predicted Effect probably benign
Transcript: ENSMUST00000022834
AA Change: S84P

PolyPhen 2 Score 0.138 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000022834
Gene: ENSMUSG00000022225
AA Change: S84P

signal peptide 1 32 N/A INTRINSIC
Tryp_SPc 34 253 4.85e-73 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000226280
AA Change: S71P

PolyPhen 2 Score 0.265 (Sensitivity: 0.91; Specificity: 0.88)
Coding Region Coverage
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110038F14Rik G A 15: 76,834,475 (GRCm39) V124I probably damaging Het
Adamts5 T C 16: 85,660,021 (GRCm39) H757R probably damaging Het
Aen G A 7: 78,557,050 (GRCm39) M299I probably damaging Het
Akap3 A T 6: 126,842,842 (GRCm39) E487V possibly damaging Het
Bicd2 T C 13: 49,531,792 (GRCm39) S271P probably damaging Het
Cfap206 C T 4: 34,721,562 (GRCm39) S162N probably damaging Het
Cspp1 T C 1: 10,158,370 (GRCm39) Y494H probably damaging Het
Cyp39a1 A G 17: 43,993,913 (GRCm39) K191R probably benign Het
Efr3a G A 15: 65,724,927 (GRCm39) V507I probably benign Het
Fam178b C T 1: 36,603,484 (GRCm39) R489Q possibly damaging Het
Kcnj4 A G 15: 79,368,780 (GRCm39) L400P probably benign Het
Kif27 A G 13: 58,491,907 (GRCm39) Y411H probably damaging Het
Mstn A T 1: 53,101,156 (GRCm39) I78L possibly damaging Het
Nrap T C 19: 56,317,516 (GRCm39) D1377G probably damaging Het
Pramel5 T G 4: 143,997,842 (GRCm39) Y467S probably damaging Het
Prkg1 G A 19: 30,546,743 (GRCm39) probably benign Het
Rbfox1 A C 16: 7,124,307 (GRCm39) S219R possibly damaging Het
Rfng T C 11: 120,674,778 (GRCm39) N71D probably damaging Het
Rp1 T C 1: 4,415,461 (GRCm39) I1884V probably damaging Het
Rptn T A 3: 93,305,483 (GRCm39) Y939N possibly damaging Het
Sart1 A G 19: 5,433,979 (GRCm39) V322A probably benign Het
Shank3 T C 15: 89,433,619 (GRCm39) S1455P probably damaging Het
Smc5 T A 19: 23,208,965 (GRCm39) R703W possibly damaging Het
Sptan1 G A 2: 29,904,185 (GRCm39) probably null Het
Tecta T C 9: 42,306,299 (GRCm39) D43G probably damaging Het
Tmem67 A T 4: 12,054,750 (GRCm39) M685K probably benign Het
Trac A G 14: 54,458,223 (GRCm39) T82A probably benign Het
Trank1 A G 9: 111,195,861 (GRCm39) N1295S probably damaging Het
Ttc36 T C 9: 44,712,887 (GRCm39) probably null Het
Utp18 A T 11: 93,760,674 (GRCm39) S384T possibly damaging Het
Vmn1r64 C A 7: 5,886,941 (GRCm39) A201S probably benign Het
Vmn2r26 A T 6: 124,038,566 (GRCm39) I714F probably benign Het
Vps54 T A 11: 21,262,268 (GRCm39) V626D probably damaging Het
Wapl T C 14: 34,467,579 (GRCm39) probably benign Het
Yars2 C T 16: 16,124,406 (GRCm39) R338* probably null Het
Other mutations in Cma1
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On 2013-06-21