Incidental Mutation 'R5601:Cma2'
ID439041
Institutional Source Beutler Lab
Gene Symbol Cma2
Ensembl Gene ENSMUSG00000068289
Gene Namechymase 2, mast cell
Synonyms
MMRRC Submission 043153-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.062) question?
Stock #R5601 (G1)
Quality Score225
Status Not validated
Chromosome14
Chromosomal Location55950980-55974031 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 55973789 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Glutamine at position 179 (H179Q)
Ref Sequence ENSEMBL: ENSMUSP00000154424 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000089555] [ENSMUST00000228263]
Predicted Effect possibly damaging
Transcript: ENSMUST00000089555
AA Change: H235Q

PolyPhen 2 Score 0.726 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000086984
Gene: ENSMUSG00000068289
AA Change: H235Q

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Tryp_SPc 20 239 7.12e-80 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000228263
AA Change: H179Q

PolyPhen 2 Score 0.858 (Sensitivity: 0.83; Specificity: 0.93)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.7%
  • 20x: 96.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot12 G A 13: 91,782,910 V426I probably benign Het
Asmt T C X: 170,676,392 V212A probably damaging Het
Atn1 A G 6: 124,743,228 probably null Het
Auts2 G T 5: 131,476,823 probably benign Het
AW551984 C T 9: 39,591,267 V672M possibly damaging Het
Ccdc13 G A 9: 121,800,572 Q114* probably null Het
Ces2e A T 8: 104,929,494 I146F probably benign Het
Cfap44 A G 16: 44,460,186 K1443E probably damaging Het
Cpsf2 G T 12: 101,985,355 probably null Het
Cwh43 A G 5: 73,417,940 probably null Het
Dnajb12 GC G 10: 59,892,752 probably null Het
Dram1 A G 10: 88,324,767 S231P probably damaging Het
Fbxw7 A G 3: 84,976,208 D482G probably damaging Het
Fstl1 T C 16: 37,826,799 I177T probably benign Het
Fut9 T C 4: 25,620,299 T172A probably benign Het
Gm10436 T C 12: 88,176,047 D267G probably damaging Het
Gm5134 G A 10: 75,985,952 V207M probably damaging Het
Hccs G A X: 169,313,601 R203C probably damaging Het
Hmgxb3 A T 18: 61,137,622 F877I probably damaging Het
Ide A G 19: 37,314,980 V272A unknown Het
Impact C T 18: 12,976,007 T65I probably benign Het
Lgr6 C T 1: 134,994,010 A199T probably damaging Het
Muc3 A G 5: 137,138,015 S309P probably damaging Het
Myf6 A C 10: 107,494,614 S31A probably damaging Het
Olfr733 C A 14: 50,298,861 W149C probably damaging Het
Olfr881 C G 9: 37,992,714 T74R possibly damaging Het
P4hb T A 11: 120,571,615 E88D possibly damaging Het
Pcdhb9 T C 18: 37,402,206 C418R probably damaging Het
Prdm4 TCTCCTCCT TCTCCT 10: 85,893,123 probably null Het
Prss58 A T 6: 40,897,849 N19K possibly damaging Het
Ptprq C T 10: 107,608,430 A1438T probably benign Het
Rfx4 A T 10: 84,798,578 T61S probably damaging Het
Sclt1 T A 3: 41,730,919 N35Y probably benign Het
Sec24b CTG CTGGTG 3: 130,040,834 probably benign Het
Serpinb12 T C 1: 106,953,697 I188T probably damaging Het
Slc27a4 A T 2: 29,805,660 Y69F probably benign Het
Slc3a1 T C 17: 85,032,891 V247A probably benign Het
Slc4a2 C T 5: 24,438,774 T854I probably benign Het
Stat5b G A 11: 100,783,175 T761M probably damaging Het
Stkld1 T C 2: 26,952,705 L563P probably damaging Het
Tbc1d23 C A 16: 57,198,309 C283F probably benign Het
Tcaf3 T C 6: 42,587,528 N900S possibly damaging Het
Tkfc T C 19: 10,594,563 T370A probably benign Het
Tpr T C 1: 150,435,853 V1868A possibly damaging Het
Triobp T A 15: 78,973,633 W1145R probably damaging Het
Uhrf1bp1 C A 17: 27,884,494 A392D probably damaging Het
Vmn2r82 T G 10: 79,396,191 L675V probably damaging Het
Zfp423 T C 8: 87,782,009 E444G probably damaging Het
Other mutations in Cma2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01870:Cma2 APN 14 55973737 missense probably benign 0.00
IGL03139:Cma2 APN 14 55973799 missense probably damaging 1.00
R0411:Cma2 UTSW 14 55973678 splice site probably benign
R0545:Cma2 UTSW 14 55973113 missense probably benign 0.01
R0558:Cma2 UTSW 14 55972792 missense probably damaging 1.00
R1187:Cma2 UTSW 14 55972823 missense probably benign 0.07
R1292:Cma2 UTSW 14 55973742 missense probably damaging 1.00
R1371:Cma2 UTSW 14 55972826 missense probably damaging 1.00
R1575:Cma2 UTSW 14 55972815 missense probably damaging 1.00
R1662:Cma2 UTSW 14 55973116 missense probably damaging 1.00
R5198:Cma2 UTSW 14 55972075 missense probably benign 0.03
R6222:Cma2 UTSW 14 55973192 missense possibly damaging 0.90
R6505:Cma2 UTSW 14 55973779 missense probably damaging 1.00
R7387:Cma2 UTSW 14 55973048 missense probably benign 0.03
R8222:Cma2 UTSW 14 55973270 missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- CCCCATGGAGTTAGCTATGATGG -3'
(R):5'- TTCAGATCATCTTGGGGACAG -3'

Sequencing Primer
(F):5'- TCTCACCTACAGGGAGACT -3'
(R):5'- ATCATCTTGGGGACAGACTGG -3'
Posted On2016-10-26