Incidental Mutation 'R5698:Sppl2b'
ID 450801
Institutional Source Beutler Lab
Gene Symbol Sppl2b
Ensembl Gene ENSMUSG00000035206
Gene Name signal peptide peptidase like 2B
Synonyms 3110056O03Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.905) question?
Stock # R5698 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 80855275-80868708 bp(+) (GRCm38)
Type of Mutation splice site
DNA Base Change (assembly) C to A at 80866045 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000151737 (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 noncoding transcript
Transcript: ENSMUST00000217714
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218007
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218727
Predicted Effect probably null
Transcript: ENSMUST00000218789
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218812
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219136
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219366
Predicted Effect probably benign
Transcript: ENSMUST00000219614
Predicted Effect probably null
Transcript: ENSMUST00000219951
Predicted Effect probably null
Transcript: ENSMUST00000220091
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.4%
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930556J24Rik A G 11: 3,976,366 (GRCm38) K334E possibly damaging Het
Ache G A 5: 137,290,559 (GRCm38) V176M probably damaging Het
Acss3 T C 10: 106,948,744 (GRCm38) D539G probably damaging Het
Adam6b T A 12: 113,491,463 (GRCm38) D633E probably benign Het
Aldh16a1 G A 7: 45,154,407 (GRCm38) probably benign Het
Amigo2 G A 15: 97,245,726 (GRCm38) Q272* probably null Het
Appbp2 A T 11: 85,210,099 (GRCm38) H171Q probably damaging Het
Arhgef18 A G 8: 3,439,499 (GRCm38) D277G probably damaging Het
Armc8 A G 9: 99,535,820 (GRCm38) V95A probably benign Het
Atp6v0a4 C T 6: 38,050,507 (GRCm38) probably null Het
Atp8a1 A T 5: 67,767,153 (GRCm38) N289K probably benign Het
Cand2 C T 6: 115,791,743 (GRCm38) L505F probably damaging Het
Ccnt2 A G 1: 127,803,228 (GRCm38) K614R probably benign Het
Col25a1 A G 3: 130,478,983 (GRCm38) probably null Het
Copa T A 1: 172,118,944 (GRCm38) L976* probably null Het
Ddx39b T C 17: 35,251,311 (GRCm38) V267A probably benign Het
Doxl2 A G 6: 48,976,322 (GRCm38) T394A possibly damaging Het
Dpp4 T A 2: 62,334,311 (GRCm38) Q709L probably damaging Het
Eno4 A G 19: 58,968,472 (GRCm38) probably null Het
Exoc3 A G 13: 74,174,015 (GRCm38) L647P probably benign Het
Eya4 T C 10: 23,140,077 (GRCm38) S308G possibly damaging Het
Fbxo41 T C 6: 85,477,656 (GRCm38) T693A possibly damaging Het
Fcgbp A G 7: 28,092,022 (GRCm38) T903A possibly damaging Het
Fkbp10 G T 11: 100,423,526 (GRCm38) W384L probably damaging Het
Frem2 A G 3: 53,652,505 (GRCm38) I1527T possibly damaging Het
Gm14124 C T 2: 150,269,474 (GRCm38) H695Y possibly damaging Het
H13 T A 2: 152,688,955 (GRCm38) I220N probably damaging Het
Has2 T C 15: 56,667,916 (GRCm38) R468G probably damaging Het
Ighmbp2 A G 19: 3,274,538 (GRCm38) S243P probably damaging Het
Irs1 T C 1: 82,288,734 (GRCm38) H587R probably benign Het
Kcnk1 C T 8: 126,025,405 (GRCm38) T250M probably damaging Het
Kif9 T C 9: 110,510,464 (GRCm38) V458A probably benign Het
Krt14 T C 11: 100,205,625 (GRCm38) T208A probably benign Het
Mybpc3 C A 2: 91,124,849 (GRCm38) H349Q possibly damaging Het
Neurl3 T A 1: 36,266,506 (GRCm38) T207S possibly damaging Het
Nol9 T C 4: 152,050,574 (GRCm38) V388A probably damaging Het
Notch3 T C 17: 32,157,987 (GRCm38) N315D probably damaging Het
Oas1h G T 5: 120,870,982 (GRCm38) A252S probably damaging Het
Olfr156 C A 4: 43,821,183 (GRCm38) M59I probably damaging Het
Pcbp1 G A 6: 86,525,152 (GRCm38) T255M possibly damaging Het
Plec A G 15: 76,199,608 (GRCm38) V18A probably benign Het
Ppp1r17 A T 6: 56,026,544 (GRCm38) E114V probably damaging Het
Scamp5 A T 9: 57,445,433 (GRCm38) M151K possibly damaging Het
Sestd1 T C 2: 77,218,168 (GRCm38) Y135C possibly damaging Het
Slc22a21 T G 11: 53,951,349 (GRCm38) K534N probably benign Het
Slc25a12 T C 2: 71,282,573 (GRCm38) E448G probably damaging Het
Slco3a1 A G 7: 74,346,818 (GRCm38) L280P probably damaging Het
Srd5a2 T C 17: 74,027,019 (GRCm38) E135G possibly damaging Het
Tfg A T 16: 56,701,104 (GRCm38) M183K probably damaging Het
Ticrr G A 7: 79,679,133 (GRCm38) M673I probably benign Het
Tm4sf20 T G 1: 82,768,237 (GRCm38) M61L probably benign Het
Ttll8 A T 15: 88,939,006 (GRCm38) S85T possibly damaging Het
Uggt2 G A 14: 119,042,726 (GRCm38) S780F probably damaging Het
Uroc1 T C 6: 90,347,320 (GRCm38) L442P probably damaging Het
Znrf3 A G 11: 5,289,006 (GRCm38) probably benign Het
Zswim2 C A 2: 83,925,183 (GRCm38) D125Y possibly damaging Het
Other mutations in Sppl2b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00950:Sppl2b APN 10 80,864,094 (GRCm38) missense probably damaging 1.00
IGL01835:Sppl2b APN 10 80,865,341 (GRCm38) missense probably damaging 0.99
IGL01836:Sppl2b APN 10 80,861,386 (GRCm38) missense probably benign 0.00
IGL01964:Sppl2b APN 10 80,865,386 (GRCm38) critical splice donor site probably null
IGL02376:Sppl2b APN 10 80,867,598 (GRCm38) nonsense probably null
R1641:Sppl2b UTSW 10 80,865,131 (GRCm38) missense probably damaging 0.96
R2228:Sppl2b UTSW 10 80,865,617 (GRCm38) missense probably damaging 1.00
R3104:Sppl2b UTSW 10 80,867,491 (GRCm38) missense probably benign 0.00
R3106:Sppl2b UTSW 10 80,867,491 (GRCm38) missense probably benign 0.00
R4350:Sppl2b UTSW 10 80,862,726 (GRCm38) missense probably benign 0.12
R5146:Sppl2b UTSW 10 80,867,640 (GRCm38) makesense probably null
R6969:Sppl2b UTSW 10 80,865,125 (GRCm38) missense probably damaging 1.00
R7649:Sppl2b UTSW 10 80,867,419 (GRCm38) missense probably benign 0.02
R8212:Sppl2b UTSW 10 80,865,359 (GRCm38) missense probably damaging 1.00
R8263:Sppl2b UTSW 10 80,866,069 (GRCm38) frame shift probably null
R8265:Sppl2b UTSW 10 80,866,069 (GRCm38) frame shift probably null
R8367:Sppl2b UTSW 10 80,863,191 (GRCm38) missense probably benign 0.02
R8398:Sppl2b UTSW 10 80,866,069 (GRCm38) frame shift probably null
R8398:Sppl2b UTSW 10 80,866,068 (GRCm38) frame shift probably null
R8400:Sppl2b UTSW 10 80,866,069 (GRCm38) frame shift probably null
R8480:Sppl2b UTSW 10 80,866,069 (GRCm38) frame shift probably null
R8481:Sppl2b UTSW 10 80,866,069 (GRCm38) frame shift probably null
R8505:Sppl2b UTSW 10 80,866,069 (GRCm38) frame shift probably null
R8817:Sppl2b UTSW 10 80,866,069 (GRCm38) frame shift probably null
R8818:Sppl2b UTSW 10 80,866,069 (GRCm38) frame shift probably null
R8832:Sppl2b UTSW 10 80,866,069 (GRCm38) frame shift probably null
R9175:Sppl2b UTSW 10 80,862,973 (GRCm38) missense probably benign
R9624:Sppl2b UTSW 10 80,863,539 (GRCm38) missense probably benign 0.03
Z1176:Sppl2b UTSW 10 80,867,425 (GRCm38) missense possibly damaging 0.56
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2017-01-03