Incidental Mutation 'R0026:Cma1'
ID 189188
Institutional Source Beutler Lab
Gene Symbol Cma1
Ensembl Gene ENSMUSG00000022225
Gene Name chymase 1, mast cell
Synonyms Mcp-5, MMCP-5, Mcpt5, Mcp5
MMRRC Submission 038321-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.076) question?
Stock # R0026 (G1)
Quality Score 34
Status Validated
Chromosome 14
Chromosomal Location 55941451-55944675 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 55942164 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 188 (C188S)
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: C201S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000022834
Gene: ENSMUSG00000022225
AA Change: C201S

signal peptide 1 32 N/A INTRINSIC
Tryp_SPc 34 253 4.85e-73 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000226280
AA Change: C188S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227704
Meta Mutation Damage Score 0.9067 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.9%
  • 10x: 97.8%
  • 20x: 96.3%
Validation Efficiency 93% (70/75)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik T A 3: 138,066,805 (GRCm38) I585N possibly damaging Het
4931408C20Rik T A 1: 26,683,369 (GRCm38) D910V probably benign Het
A830005F24Rik C T 13: 48,514,372 (GRCm38) probably benign Het
Abca16 C T 7: 120,477,923 (GRCm38) probably benign Het
Acot10 G A 15: 20,666,236 (GRCm38) L140F probably benign Het
Adam19 G T 11: 46,136,259 (GRCm38) C573F probably damaging Het
Aff3 A G 1: 38,203,893 (GRCm38) S948P probably benign Het
Anxa3 T A 5: 96,838,401 (GRCm38) Y300N probably benign Het
BC016579 T C 16: 45,640,367 (GRCm38) T113A probably benign Het
Bmpr1b A G 3: 141,870,733 (GRCm38) L113P probably benign Het
Casq1 T C 1: 172,219,400 (GRCm38) probably benign Het
Cdc16 T A 8: 13,759,130 (GRCm38) probably null Het
Cep135 C T 5: 76,606,734 (GRCm38) R353* probably null Het
Csf3r A G 4: 126,031,884 (GRCm38) T151A probably benign Het
Cyp4b1 C T 4: 115,647,521 (GRCm38) G56D possibly damaging Het
Dbn1 T C 13: 55,477,784 (GRCm38) E275G probably damaging Het
Dlgap2 C T 8: 14,727,363 (GRCm38) Q203* probably null Het
Ephb3 A G 16: 21,214,917 (GRCm38) D251G probably damaging Het
Fancd2os G T 6: 113,597,691 (GRCm38) T118N probably damaging Het
Gm10801 T C 2: 98,663,909 (GRCm38) probably benign Het
Got1l1 C T 8: 27,200,248 (GRCm38) V132I probably benign Het
H2-M9 T C 17: 36,641,527 (GRCm38) probably benign Het
Ibtk A G 9: 85,690,303 (GRCm38) V1278A probably benign Het
Kctd3 T C 1: 188,976,621 (GRCm38) T519A probably damaging Het
Lgsn T A 1: 31,203,443 (GRCm38) V202D probably damaging Het
Madd A G 2: 91,175,708 (GRCm38) F381L possibly damaging Het
Map1s G A 8: 70,914,638 (GRCm38) G729D probably damaging Het
Mlycd A G 8: 119,410,435 (GRCm38) I465V probably benign Het
Mrgprb1 T C 7: 48,447,204 (GRCm38) R108G possibly damaging Het
Mrgprx2 T A 7: 48,482,023 (GRCm38) H106L possibly damaging Het
Ncor1 T C 11: 62,438,429 (GRCm38) Y6C probably damaging Het
Nfkb1 T C 3: 135,591,573 (GRCm38) D773G probably damaging Het
Nxnl1 A G 8: 71,566,573 (GRCm38) S3P probably damaging Het
Olfr109 T A 17: 37,466,803 (GRCm38) V199D probably damaging Het
Olfr921 G A 9: 38,775,596 (GRCm38) V114I probably benign Het
Otud7a T C 7: 63,735,801 (GRCm38) F338L probably benign Het
Pdcl3 T A 1: 38,991,280 (GRCm38) L14Q probably damaging Het
Pla2g7 T A 17: 43,594,930 (GRCm38) probably benign Het
Prpf31 T A 7: 3,639,668 (GRCm38) N413K probably benign Het
Rapgef5 T C 12: 117,689,161 (GRCm38) S307P probably benign Het
Relt C A 7: 100,850,221 (GRCm38) E164* probably null Het
Rnf185 T C 11: 3,426,617 (GRCm38) D86G probably damaging Het
Rrm2b T C 15: 37,953,741 (GRCm38) E21G probably benign Het
Scn5a A G 9: 119,522,566 (GRCm38) I783T probably damaging Het
Senp1 T C 15: 98,076,668 (GRCm38) R88G probably damaging Het
Skint5 A T 4: 113,546,468 (GRCm38) probably benign Het
Slc35b1 T C 11: 95,390,642 (GRCm38) S294P probably benign Het
Slc5a2 T A 7: 128,270,053 (GRCm38) I335N probably damaging Het
Sstr1 T A 12: 58,212,858 (GRCm38) M89K probably damaging Het
Szt2 A T 4: 118,384,772 (GRCm38) S1612R possibly damaging Het
Taf1c T C 8: 119,604,236 (GRCm38) probably null Het
Taf1d T A 9: 15,308,648 (GRCm38) S64R probably damaging Het
Tmem125 A G 4: 118,542,073 (GRCm38) S54P possibly damaging Het
Ttf1 T A 2: 29,071,349 (GRCm38) I583N possibly damaging Het
Uchl4 A T 9: 64,235,371 (GRCm38) probably null Het
Unc5b A T 10: 60,774,592 (GRCm38) I482N possibly damaging Het
Unc80 C A 1: 66,521,584 (GRCm38) Q824K probably benign Het
Utrn T C 10: 12,726,196 (GRCm38) probably benign Het
Vmn2r61 T G 7: 42,275,474 (GRCm38) I484R possibly damaging Het
Vps13b T C 15: 35,923,301 (GRCm38) I3774T possibly damaging Het
Yipf1 T A 4: 107,345,160 (GRCm38) L240* probably null Het
Other mutations in Cma1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01070:Cma1 APN 14 55,942,697 (GRCm38) missense probably benign 0.26
IGL02797:Cma1 APN 14 55,943,814 (GRCm38) missense possibly damaging 0.58
R2029:Cma1 UTSW 14 55,943,734 (GRCm38) missense possibly damaging 0.81
R2060:Cma1 UTSW 14 55,943,698 (GRCm38) critical splice donor site probably null
R4994:Cma1 UTSW 14 55,941,671 (GRCm38) missense probably damaging 1.00
R5275:Cma1 UTSW 14 55,941,700 (GRCm38) missense probably damaging 1.00
R5794:Cma1 UTSW 14 55,944,520 (GRCm38) missense probably benign
R5824:Cma1 UTSW 14 55,941,725 (GRCm38) missense possibly damaging 0.79
R5955:Cma1 UTSW 14 55,943,769 (GRCm38) missense probably benign 0.20
R5958:Cma1 UTSW 14 55,941,656 (GRCm38) makesense probably null
R6075:Cma1 UTSW 14 55,942,314 (GRCm38) missense probably damaging 0.97
R6139:Cma1 UTSW 14 55,942,700 (GRCm38) critical splice acceptor site probably null
R7088:Cma1 UTSW 14 55,943,816 (GRCm38) missense probably damaging 1.00
R7139:Cma1 UTSW 14 55,943,816 (GRCm38) missense probably damaging 1.00
R7220:Cma1 UTSW 14 55,942,663 (GRCm38) missense probably benign
R7988:Cma1 UTSW 14 55,944,532 (GRCm38) missense possibly damaging 0.53
R9171:Cma1 UTSW 14 55,943,732 (GRCm38) missense probably benign 0.28
R9627:Cma1 UTSW 14 55,943,832 (GRCm38) missense probably benign 0.07
R9803:Cma1 UTSW 14 55,941,729 (GRCm38) missense probably benign 0.07
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2014-05-13