Incidental Mutation 'R4853:Tpsb2'
ID 373747
Institutional Source Beutler Lab
Gene Symbol Tpsb2
Ensembl Gene ENSMUSG00000033825
Gene Name tryptase beta 2
Synonyms MMCP-6, Mcp6, Mcp-6, Mcpt6
Accession Numbers
Essential gene? Probably non essential (E-score: 0.059) question?
Stock # R4853 (G1)
Quality Score 217
Status Not validated
Chromosome 17
Chromosomal Location 25585282-25587070 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) GGCTGCTGCTGCTGCTG to GGCTGCTGCTGCTG at 25585536 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000125180 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024999] [ENSMUST00000069616] [ENSMUST00000160377] [ENSMUST00000160485] [ENSMUST00000162021]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000024999
SMART Domains Protein: ENSMUSP00000024999
Gene: ENSMUSG00000033200

DomainStartEndE-ValueType
Tryp_SPc 29 257 1.06e-87 SMART
transmembrane domain 274 296 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000069616
SMART Domains Protein: ENSMUSP00000063499
Gene: ENSMUSG00000033825

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Tryp_SPc 31 268 7.49e-97 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000160377
SMART Domains Protein: ENSMUSP00000124008
Gene: ENSMUSG00000033200

DomainStartEndE-ValueType
Tryp_SPc 4 154 1.79e-30 SMART
transmembrane domain 171 193 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000160485
SMART Domains Protein: ENSMUSP00000124721
Gene: ENSMUSG00000033200

DomainStartEndE-ValueType
Tryp_SPc 4 154 1.79e-30 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000162021
SMART Domains Protein: ENSMUSP00000125180
Gene: ENSMUSG00000033200

DomainStartEndE-ValueType
Tryp_SPc 5 111 2.35e-4 SMART
transmembrane domain 128 150 N/A INTRINSIC
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.8%
  • 20x: 93.8%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele show reduced recruitment of eosinophils to sites of T. spiralis larvae and decreased elimination of larvae in chronically infected skeletal muscle. Mice homozygous for a knock-in allele show a reduced ability to clear K. pneumoniae from their peritoneal cavity. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim2 C T 5: 35,959,766 (GRCm39) R73C possibly damaging Het
Abr T C 11: 76,355,087 (GRCm39) T244A probably damaging Het
Adcy10 T A 1: 165,375,782 (GRCm39) N803K probably benign Het
Afm T C 5: 90,699,326 (GRCm39) F590S probably damaging Het
Agk T C 6: 40,360,753 (GRCm39) probably null Het
Agrn C T 4: 156,270,007 (GRCm39) probably null Het
Apon A G 10: 128,090,951 (GRCm39) S210G probably benign Het
Atad5 A G 11: 79,986,098 (GRCm39) E395G probably damaging Het
AU018091 A T 7: 3,205,861 (GRCm39) L671H probably damaging Het
Capn13 GCA G 17: 73,658,501 (GRCm39) probably null Het
Ccdc154 A T 17: 25,389,941 (GRCm39) I524F probably damaging Het
Clspn T A 4: 126,460,348 (GRCm39) I525K probably damaging Het
Cpne5 A T 17: 29,380,172 (GRCm39) V448E probably benign Het
Cps1 A G 1: 67,195,361 (GRCm39) I261V possibly damaging Het
Crybb2 T C 5: 113,211,054 (GRCm39) E78G probably damaging Het
Ctps1 G T 4: 120,411,207 (GRCm39) L270I probably damaging Het
Cyp19a1 T C 9: 54,074,060 (GRCm39) D431G probably benign Het
Cyp3a57 T G 5: 145,302,489 (GRCm39) V95G probably damaging Het
Ddx54 A G 5: 120,761,694 (GRCm39) D490G probably benign Het
Dnai2 A T 11: 114,635,917 (GRCm39) I301F probably benign Het
Dsg1b A G 18: 20,541,793 (GRCm39) S767G probably benign Het
Dsg1b A T 18: 20,523,189 (GRCm39) probably null Het
Ermap G A 4: 119,044,451 (GRCm39) P115L probably damaging Het
Esrra T G 19: 6,897,440 (GRCm39) T106P probably damaging Het
Exoc5 GTATT GT 14: 49,289,826 (GRCm39) probably benign Het
Flt1 C A 5: 147,620,749 (GRCm39) A132S probably benign Het
Gas2l3 CACTCGTCATACT CACT 10: 89,266,820 (GRCm39) probably benign Het
Gnl3 T C 14: 30,737,270 (GRCm39) K203E probably damaging Het
H2ac13 A G 13: 21,900,866 (GRCm39) E92G probably damaging Het
Habp2 G A 19: 56,299,623 (GRCm39) probably null Het
Kcnh3 A C 15: 99,139,970 (GRCm39) D952A possibly damaging Het
Kif27 T C 13: 58,459,072 (GRCm39) K920E probably benign Het
Kmt2e C T 5: 23,707,339 (GRCm39) P1634L probably damaging Het
Lamc1 A T 1: 153,104,846 (GRCm39) M1312K possibly damaging Het
Myh14 T A 7: 44,257,872 (GRCm39) Q1921L probably damaging Het
Ncor2 A G 5: 125,102,169 (GRCm39) V68A probably damaging Het
Ncor2 A G 5: 125,158,247 (GRCm39) F444L unknown Het
Nedd9 A G 13: 41,469,837 (GRCm39) Y439H probably benign Het
Nsd1 T A 13: 55,416,317 (GRCm39) H1454Q probably benign Het
Or10v9 T A 19: 11,832,645 (GRCm39) D224V probably benign Het
Or51v8 G T 7: 103,320,010 (GRCm39) T76K probably damaging Het
Or5i1 T G 2: 87,613,526 (GRCm39) F214C probably benign Het
Or9m1b A G 2: 87,836,448 (GRCm39) S216P probably damaging Het
P4ha2 G A 11: 54,010,996 (GRCm39) S337N probably benign Het
Pck1 T A 2: 172,996,507 (GRCm39) Y140* probably null Het
Phldb2 T C 16: 45,623,079 (GRCm39) M656V probably damaging Het
Pif1 T C 9: 65,500,858 (GRCm39) W559R probably damaging Het
Pllp T C 8: 95,406,022 (GRCm39) Y87C probably damaging Het
Ppp1r3a T C 6: 14,719,046 (GRCm39) N623D probably benign Het
Prkcg C T 7: 3,367,469 (GRCm39) R345C probably damaging Het
Rgl1 T C 1: 152,433,325 (GRCm39) I147V probably benign Het
Sdk1 T A 5: 142,132,018 (GRCm39) L1649Q probably damaging Het
Sema3b C T 9: 107,479,266 (GRCm39) probably null Het
Sh3rf3 G A 10: 58,919,341 (GRCm39) R486H probably damaging Het
Shoc1 T C 4: 59,072,345 (GRCm39) K624E possibly damaging Het
Slain2 A G 5: 73,105,941 (GRCm39) N192S probably benign Het
Slc22a16 T A 10: 40,450,047 (GRCm39) I161N probably damaging Het
Strip1 T C 3: 107,524,232 (GRCm39) K562E possibly damaging Het
Sumf1 A G 6: 108,162,456 (GRCm39) L21S probably benign Het
Sytl3 T A 17: 7,005,164 (GRCm39) S380T probably damaging Het
Tgfb1i1 T A 7: 127,847,840 (GRCm39) C74* probably null Het
Tmprss15 T G 16: 78,757,479 (GRCm39) I939L probably benign Het
Vwde A T 6: 13,215,639 (GRCm39) V139E probably damaging Het
Wdr27 A G 17: 15,137,475 (GRCm39) probably null Het
Zkscan14 A G 5: 145,132,001 (GRCm39) V510A probably benign Het
Other mutations in Tpsb2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1831:Tpsb2 UTSW 17 25,585,494 (GRCm39) splice site probably null
R2044:Tpsb2 UTSW 17 25,586,698 (GRCm39) missense probably damaging 1.00
R2051:Tpsb2 UTSW 17 25,585,539 (GRCm39) unclassified probably benign
R3889:Tpsb2 UTSW 17 25,586,457 (GRCm39) missense probably damaging 1.00
R4854:Tpsb2 UTSW 17 25,585,536 (GRCm39) unclassified probably benign
R5986:Tpsb2 UTSW 17 25,586,108 (GRCm39) missense probably benign 0.25
R6211:Tpsb2 UTSW 17 25,586,737 (GRCm39) missense possibly damaging 0.56
R6848:Tpsb2 UTSW 17 25,586,802 (GRCm39) nonsense probably null
R9599:Tpsb2 UTSW 17 25,586,077 (GRCm39) nonsense probably null
R9704:Tpsb2 UTSW 17 25,585,834 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- GACCTTTGTAACCTGGTGCAC -3'
(R):5'- TCAGAAGCCTCATGTCCTCC -3'

Sequencing Primer
(F):5'- TTGTAACCTGGTGCACCAAGC -3'
(R):5'- ATGCCCACTCGCTGATTGG -3'
Posted On 2016-03-01