Incidental Mutation 'R8818:Sppl2b'
ID 672874
Institutional Source Beutler Lab
Gene Symbol Sppl2b
Ensembl Gene ENSMUSG00000035206
Gene Name signal peptide peptidase like 2B
Synonyms 3110056O03Rik
MMRRC Submission 068651-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.878) question?
Stock # R8818 (G1)
Quality Score 217.468
Status Not validated
Chromosome 10
Chromosomal Location 80691109-80704542 bp(+) (GRCm39)
Type of Mutation frame shift
DNA Base Change (assembly) TGTCACAGGT to TGT at 80701903 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000036289 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035597] [ENSMUST00000220091]
AlphaFold Q3TD49
Predicted Effect probably null
Transcript: ENSMUST00000035597
SMART Domains Protein: ENSMUSP00000036289
Gene: ENSMUSG00000035206

signal peptide 1 19 N/A INTRINSIC
low complexity region 25 36 N/A INTRINSIC
Pfam:PA 55 147 5.5e-14 PFAM
transmembrane domain 167 189 N/A INTRINSIC
PSN 210 485 2.16e-113 SMART
low complexity region 520 531 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000218789
Predicted Effect probably benign
Transcript: ENSMUST00000219614
Predicted Effect probably null
Transcript: ENSMUST00000219951
Predicted Effect probably null
Transcript: ENSMUST00000220091
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 98% (55/56)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the GXGD family of aspartic proteases. The GXGD proteases are transmembrane proteins with two conserved catalytic motifs localized within the membrane-spanning regions. This enzyme localizes to endosomes, lysosomes, and the plasma membrane. It cleaves the transmembrane domain of tumor necrosis factor alpha to release the intracellular domain, which triggers cytokine expression in the innate and adaptive immunity pathways. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a gene trapped allele are viable and overtly normal with no apparent defects in B cell and dendritic cell homeostasis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 G T 7: 119,815,524 (GRCm39) M257I probably benign Het
Adam23 T C 1: 63,584,627 (GRCm39) V345A probably damaging Het
Anxa6 T G 11: 54,902,578 (GRCm39) N52T possibly damaging Het
Arhgef15 G A 11: 68,841,938 (GRCm39) H496Y probably damaging Het
Atp2a3 A G 11: 72,872,765 (GRCm39) E771G probably damaging Het
B3gnt5 A G 16: 19,588,347 (GRCm39) T189A possibly damaging Het
Becn1 A T 11: 101,186,230 (GRCm39) S125T probably damaging Het
Bltp1 T G 3: 37,050,697 (GRCm39) M3011R possibly damaging Het
Ccdc180 A G 4: 45,900,484 (GRCm39) M283V probably benign Het
Cdh17 T C 4: 11,771,323 (GRCm39) F35S probably damaging Het
Clcn1 T A 6: 42,282,477 (GRCm39) I515N probably damaging Het
Cyp4f17 A G 17: 32,743,068 (GRCm39) Y247C probably damaging Het
Dcp1a T A 14: 30,240,899 (GRCm39) H236Q possibly damaging Het
Dnah11 T A 12: 117,874,764 (GRCm39) N4034Y probably damaging Het
Dsg1a A G 18: 20,473,599 (GRCm39) I891V possibly damaging Het
Eid3 A G 10: 82,703,441 (GRCm39) N301D probably damaging Het
Fbrs C A 7: 127,078,694 (GRCm39) D108E unknown Het
Fbxw14 A C 9: 109,116,071 (GRCm39) probably benign Het
Fzd8 A G 18: 9,214,474 (GRCm39) T519A probably benign Het
Gldc C G 19: 30,078,212 (GRCm39) M928I probably benign Het
Gpr3 C A 4: 132,938,538 (GRCm39) V45L possibly damaging Het
Gramd1b A T 9: 40,215,780 (GRCm39) I690K probably benign Het
Grhl2 T A 15: 37,270,912 (GRCm39) D33E probably damaging Het
Kcnj4 C A 15: 79,369,920 (GRCm39) R20L probably damaging Het
Klhl5 A G 5: 65,305,989 (GRCm39) I319V probably benign Het
Lars2 A T 9: 123,221,892 (GRCm39) E135D possibly damaging Het
Map9 T A 3: 82,291,270 (GRCm39) Y602N possibly damaging Het
Mphosph9 A T 5: 124,463,027 (GRCm39) L6* probably null Het
Naa35 C T 13: 59,748,761 (GRCm39) T131M probably damaging Het
Nucb2 T A 7: 116,121,136 (GRCm39) L22Q possibly damaging Het
Or8g26 A G 9: 39,096,062 (GRCm39) Y193C probably damaging Het
Or8k28 C A 2: 86,286,078 (GRCm39) C179F probably damaging Het
Pcdhb6 C T 18: 37,468,837 (GRCm39) T586I probably benign Het
Ppcs A T 4: 119,279,330 (GRCm39) L74Q probably damaging Het
Ppp6r3 A T 19: 3,517,216 (GRCm39) V677D probably benign Het
Psg27 C T 7: 18,294,337 (GRCm39) G357S probably damaging Het
Ptgdr2 A G 19: 10,918,380 (GRCm39) N299S probably damaging Het
Relb T A 7: 19,353,762 (GRCm39) I39F probably damaging Het
Ripor2 T A 13: 24,901,651 (GRCm39) S907R possibly damaging Het
Rnf170 T G 8: 26,629,043 (GRCm39) D172E probably benign Het
Rnf31 C A 14: 55,832,396 (GRCm39) Q273K probably benign Het
Rrp36 A T 17: 46,983,336 (GRCm39) S93T probably damaging Het
Rsad1 A T 11: 94,439,100 (GRCm39) V120D probably benign Het
Ryr3 C T 2: 112,661,441 (GRCm39) A1870T probably damaging Het
Serpina10 T G 12: 103,595,063 (GRCm39) D52A probably benign Het
Slc47a1 A G 11: 61,261,055 (GRCm39) I115T probably benign Het
Spag17 T A 3: 99,920,543 (GRCm39) M426K probably benign Het
Sptbn4 T G 7: 27,063,592 (GRCm39) E2283A possibly damaging Het
Top3a A G 11: 60,633,877 (GRCm39) C740R probably damaging Het
Tpgs2 A T 18: 25,291,365 (GRCm39) V33E probably damaging Het
Treh T C 9: 44,592,823 (GRCm39) I116T probably damaging Het
Trpm3 A T 19: 22,955,952 (GRCm39) N1138I possibly damaging Het
Unc13d AATGCCTCCCATGCC AATGCCTCCCATGCCTCCCATGCC 11: 115,958,998 (GRCm39) probably benign Het
Vamp9 A T 5: 100,089,094 (GRCm39) N120Y probably damaging Het
Zswim9 G T 7: 12,994,456 (GRCm39) Q567K probably benign Het
Other mutations in Sppl2b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00950:Sppl2b APN 10 80,699,928 (GRCm39) missense probably damaging 1.00
IGL01835:Sppl2b APN 10 80,701,175 (GRCm39) missense probably damaging 0.99
IGL01836:Sppl2b APN 10 80,697,220 (GRCm39) missense probably benign 0.00
IGL01964:Sppl2b APN 10 80,701,220 (GRCm39) critical splice donor site probably null
IGL02376:Sppl2b APN 10 80,703,432 (GRCm39) nonsense probably null
R1641:Sppl2b UTSW 10 80,700,965 (GRCm39) missense probably damaging 0.96
R2228:Sppl2b UTSW 10 80,701,451 (GRCm39) missense probably damaging 1.00
R3104:Sppl2b UTSW 10 80,703,325 (GRCm39) missense probably benign 0.00
R3106:Sppl2b UTSW 10 80,703,325 (GRCm39) missense probably benign 0.00
R4350:Sppl2b UTSW 10 80,698,560 (GRCm39) missense probably benign 0.12
R5146:Sppl2b UTSW 10 80,703,474 (GRCm39) makesense probably null
R5698:Sppl2b UTSW 10 80,701,879 (GRCm39) splice site probably null
R6969:Sppl2b UTSW 10 80,700,959 (GRCm39) missense probably damaging 1.00
R7649:Sppl2b UTSW 10 80,703,253 (GRCm39) missense probably benign 0.02
R8212:Sppl2b UTSW 10 80,701,193 (GRCm39) missense probably damaging 1.00
R8263:Sppl2b UTSW 10 80,701,903 (GRCm39) frame shift probably null
R8265:Sppl2b UTSW 10 80,701,903 (GRCm39) frame shift probably null
R8367:Sppl2b UTSW 10 80,699,025 (GRCm39) missense probably benign 0.02
R8398:Sppl2b UTSW 10 80,701,903 (GRCm39) frame shift probably null
R8398:Sppl2b UTSW 10 80,701,902 (GRCm39) frame shift probably null
R8400:Sppl2b UTSW 10 80,701,903 (GRCm39) frame shift probably null
R8480:Sppl2b UTSW 10 80,701,903 (GRCm39) frame shift probably null
R8481:Sppl2b UTSW 10 80,701,903 (GRCm39) frame shift probably null
R8505:Sppl2b UTSW 10 80,701,903 (GRCm39) frame shift probably null
R8817:Sppl2b UTSW 10 80,701,903 (GRCm39) frame shift probably null
R8832:Sppl2b UTSW 10 80,701,903 (GRCm39) frame shift probably null
R9175:Sppl2b UTSW 10 80,698,807 (GRCm39) missense probably benign
R9624:Sppl2b UTSW 10 80,699,373 (GRCm39) missense probably benign 0.03
Z1176:Sppl2b UTSW 10 80,703,259 (GRCm39) missense possibly damaging 0.56
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2021-04-30