Incidental Mutation 'IGL01835:Sppl2b'
ID 154927
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sppl2b
Ensembl Gene ENSMUSG00000035206
Gene Name signal peptide peptidase like 2B
Synonyms 3110056O03Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.878) question?
Stock # IGL01835
Quality Score
Status
Chromosome 10
Chromosomal Location 80691109-80704542 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 80701175 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 350 (I350N)
Ref Sequence ENSEMBL: ENSMUSP00000036289 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035597] [ENSMUST00000220091]
AlphaFold Q3TD49
Predicted Effect probably damaging
Transcript: ENSMUST00000035597
AA Change: I350N

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000036289
Gene: ENSMUSG00000035206
AA Change: I350N

DomainStartEndE-ValueType
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 unknown
Transcript: ENSMUST00000218789
AA Change: I219N
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218812
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219136
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219366
Predicted Effect unknown
Transcript: ENSMUST00000219614
AA Change: I225N
Predicted Effect unknown
Transcript: ENSMUST00000219951
AA Change: I95N
Predicted Effect probably benign
Transcript: ENSMUST00000220091
AA Change: I198N

PolyPhen 2 Score 0.104 (Sensitivity: 0.93; Specificity: 0.86)
Coding Region Coverage
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik T A 12: 71,213,957 (GRCm39) M728K probably benign Het
2700049A03Rik T A 12: 71,213,955 (GRCm39) Y727* probably null Het
Adam23 T C 1: 63,582,278 (GRCm39) Y309H probably damaging Het
Ash2l C T 8: 26,329,868 (GRCm39) V97M probably damaging Het
Cyp4f13 A G 17: 33,149,588 (GRCm39) F83L probably benign Het
Dnah6 A T 6: 73,112,784 (GRCm39) S1607T probably damaging Het
Dock2 T A 11: 34,260,435 (GRCm39) M969L possibly damaging Het
Dse T A 10: 34,036,213 (GRCm39) probably benign Het
Dusp22 C T 13: 30,892,666 (GRCm39) probably null Het
F5 G A 1: 164,021,937 (GRCm39) V1471I probably benign Het
Gm14403 A T 2: 177,199,049 (GRCm39) E48D probably damaging Het
Gm6309 G A 5: 146,105,085 (GRCm39) A276V probably damaging Het
Icam4 A T 9: 20,941,086 (GRCm39) T113S probably damaging Het
Ipo5 T C 14: 121,163,650 (GRCm39) V236A probably benign Het
Mrc2 T G 11: 105,227,503 (GRCm39) F579V probably damaging Het
Myl4 T A 11: 104,468,279 (GRCm39) M1K probably null Het
Oas3 A T 5: 120,904,193 (GRCm39) C560* probably null Het
Or2w25 T C 11: 59,504,165 (GRCm39) V125A probably damaging Het
Or52e18 T C 7: 104,609,669 (GRCm39) N90S probably benign Het
Prlr G A 15: 10,329,129 (GRCm39) V535I probably damaging Het
Ptprd T C 4: 76,165,058 (GRCm39) T48A probably benign Het
Rasa4 A G 5: 136,131,461 (GRCm39) H485R possibly damaging Het
Rnf13 A T 3: 57,728,007 (GRCm39) H229L probably damaging Het
Rpap3 T C 15: 97,601,120 (GRCm39) D39G possibly damaging Het
Sec23ip T A 7: 128,357,035 (GRCm39) probably null Het
Sirpa T A 2: 129,457,484 (GRCm39) F186Y possibly damaging Het
Slc26a11 T C 11: 119,268,040 (GRCm39) Y473H probably benign Het
Slc36a2 T C 11: 55,053,559 (GRCm39) I360V probably benign Het
Spg11 G A 2: 121,918,705 (GRCm39) R975C probably benign Het
Tas2r139 A T 6: 42,118,366 (GRCm39) N166I probably benign Het
Trav14n-3 A G 14: 53,607,786 (GRCm39) T39A possibly damaging Het
Vmn2r61 A G 7: 41,950,015 (GRCm39) M812V probably benign Het
Vmn2r87 A C 10: 130,314,978 (GRCm39) F203V probably damaging Het
Vwde A C 6: 13,186,823 (GRCm39) V888G probably benign Het
Zbtb17 T C 4: 141,192,749 (GRCm39) probably null Het
Other mutations in Sppl2b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00950:Sppl2b APN 10 80,699,928 (GRCm39) missense probably damaging 1.00
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
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
Posted On 2014-02-04