Incidental Mutation 'R8398:Sppl2b'
ID 647722
Institutional Source Beutler Lab
Gene Symbol Sppl2b
Ensembl Gene ENSMUSG00000035206
Gene Name signal peptide peptidase like 2B
Synonyms 3110056O03Rik
MMRRC Submission 067761-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.878) question?
Stock # R8398 (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: 99.8%
  • 20x: 99.3%
Validation Efficiency
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 T C 13: 81,330,797 (GRCm39) D6086G probably damaging Het
Amh T C 10: 80,641,394 (GRCm39) S105P probably benign Het
Arap2 A T 5: 62,906,252 (GRCm39) Y256N probably damaging Het
Asap3 G A 4: 135,961,704 (GRCm39) M271I probably benign Het
Bbof1 T C 12: 84,475,188 (GRCm39) L459P probably damaging Het
Ccl21a T C 4: 42,773,412 (GRCm39) T109A probably benign Het
Cnot6 C T 11: 49,593,445 (GRCm39) R12Q probably damaging Het
D5Ertd579e G A 5: 36,771,621 (GRCm39) Q925* probably null Het
Dbh G A 2: 27,064,910 (GRCm39) V374M probably damaging Het
Dvl2 T A 11: 69,899,128 (GRCm39) L462Q probably damaging Het
Fchsd1 G A 18: 38,099,577 (GRCm39) R206C probably damaging Het
Gjd4 C T 18: 9,280,326 (GRCm39) V251M possibly damaging Het
Glud1 A G 14: 34,033,228 (GRCm39) D125G probably benign Het
Gm10428 T C 11: 62,644,173 (GRCm39) I83T unknown Het
Gm10985 A C 3: 53,752,674 (GRCm39) Y19S probably damaging Het
Gm3045 A G 13: 56,577,280 (GRCm39) T143A possibly damaging Het
Heatr6 A C 11: 83,672,164 (GRCm39) E1057D probably benign Het
Hoxa9 T C 6: 52,201,403 (GRCm39) T213A probably damaging Het
Hsd3b5 T A 3: 98,526,720 (GRCm39) D242V possibly damaging Het
Lama5 A G 2: 179,838,827 (GRCm39) probably null Het
Lrp1b C T 2: 40,591,819 (GRCm39) C3827Y Het
Mast2 A T 4: 116,165,946 (GRCm39) S1261T probably damaging Het
Mex3b T A 7: 82,518,842 (GRCm39) F386I probably benign Het
Mta1 T A 12: 113,095,242 (GRCm39) M465K possibly damaging Het
Mtmr12 T A 15: 12,265,695 (GRCm39) F470L probably damaging Het
Myot A G 18: 44,487,883 (GRCm39) N400S probably benign Het
Ndnf T C 6: 65,681,362 (GRCm39) V547A probably damaging Het
Noc3l A T 19: 38,783,554 (GRCm39) D607E probably benign Het
Or5w14 A G 2: 87,542,175 (GRCm39) V25A probably benign Het
Pcdha11 G A 18: 37,146,116 (GRCm39) G736R possibly damaging Het
Pcgf3 A G 5: 108,647,509 (GRCm39) N205S probably damaging Het
Pkd1l3 C T 8: 110,350,520 (GRCm39) P455L possibly damaging Het
Psg27 T C 7: 18,295,837 (GRCm39) T203A probably benign Het
Ptch1 T C 13: 63,672,939 (GRCm39) T889A probably benign Het
Sars1 C T 3: 108,335,489 (GRCm39) probably null Het
Scrn2 G T 11: 96,921,730 (GRCm39) V67L probably benign Het
Slc1a4 T C 11: 20,257,982 (GRCm39) D380G probably damaging Het
Slc9a1 A T 4: 133,146,814 (GRCm39) Q516L probably benign Het
Smc4 T C 3: 68,933,184 (GRCm39) Y627H probably damaging Het
Spon2 G T 5: 33,374,154 (GRCm39) H76Q probably damaging Het
Sugp1 A G 8: 70,523,783 (GRCm39) Y550C probably damaging Het
Sun1 A G 5: 139,222,408 (GRCm39) D558G probably damaging Het
Syne1 T C 10: 5,074,923 (GRCm39) E1134G probably damaging Het
Thbd C T 2: 148,248,600 (GRCm39) V423I probably benign Het
V1rd19 C A 7: 23,703,374 (GRCm39) S280* probably null Het
Zfp947 A T 17: 22,365,102 (GRCm39) C191S 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 80,701,902 (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
R8818: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 2020-09-02