Incidental Mutation 'IGL01835:Sppl2b'
ID154927
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sppl2b
Ensembl Gene ENSMUSG00000035206
Gene Namesignal peptide peptidase like 2B
Synonyms3110056O03Rik
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.877) question?
Stock #IGL01835
Quality Score
Status
Chromosome10
Chromosomal Location80855275-80868708 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 80865341 bp
ZygosityHeterozygous
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]
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: 71,167,181 Y727* probably null Het
2700049A03Rik T A 12: 71,167,183 M728K probably benign Het
Adam23 T C 1: 63,543,119 Y309H probably damaging Het
Ash2l C T 8: 25,839,840 V97M probably damaging Het
Cyp4f13 A G 17: 32,930,614 F83L probably benign Het
Dnah6 A T 6: 73,135,801 S1607T probably damaging Het
Dock2 T A 11: 34,310,435 M969L possibly damaging Het
Dse T A 10: 34,160,217 probably benign Het
Dusp22 C T 13: 30,708,683 probably null Het
F5 G A 1: 164,194,368 V1471I probably benign Het
Gm14403 A T 2: 177,507,256 E48D probably damaging Het
Gm6309 G A 5: 146,168,275 A276V probably damaging Het
Icam4 A T 9: 21,029,790 T113S probably damaging Het
Ipo5 T C 14: 120,926,238 V236A probably benign Het
Mrc2 T G 11: 105,336,677 F579V probably damaging Het
Myl4 T A 11: 104,577,453 M1K probably null Het
Oas3 A T 5: 120,766,128 C560* probably null Het
Olfr225 T C 11: 59,613,339 V125A probably damaging Het
Olfr670 T C 7: 104,960,462 N90S probably benign Het
Prlr G A 15: 10,329,043 V535I probably damaging Het
Ptprd T C 4: 76,246,821 T48A probably benign Het
Rasa4 A G 5: 136,102,607 H485R possibly damaging Het
Rnf13 A T 3: 57,820,586 H229L probably damaging Het
Rpap3 T C 15: 97,703,239 D39G possibly damaging Het
Sec23ip T A 7: 128,755,311 probably null Het
Sirpa T A 2: 129,615,564 F186Y possibly damaging Het
Slc26a11 T C 11: 119,377,214 Y473H probably benign Het
Slc36a2 T C 11: 55,162,733 I360V probably benign Het
Spg11 G A 2: 122,088,224 R975C probably benign Het
Tas2r139 A T 6: 42,141,432 N166I probably benign Het
Trav14n-3 A G 14: 53,370,329 T39A possibly damaging Het
Vmn2r61 A G 7: 42,300,591 M812V probably benign Het
Vmn2r87 A C 10: 130,479,109 F203V probably damaging Het
Vwde A C 6: 13,186,824 V888G probably benign Het
Zbtb17 T C 4: 141,465,438 probably null Het
Other mutations in Sppl2b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00950:Sppl2b APN 10 80864094 missense probably damaging 1.00
IGL01836:Sppl2b APN 10 80861386 missense probably benign 0.00
IGL01964:Sppl2b APN 10 80865386 critical splice donor site probably null
IGL02376:Sppl2b APN 10 80867598 nonsense probably null
R1641:Sppl2b UTSW 10 80865131 missense probably damaging 0.96
R2228:Sppl2b UTSW 10 80865617 missense probably damaging 1.00
R3104:Sppl2b UTSW 10 80867491 missense probably benign 0.00
R3106:Sppl2b UTSW 10 80867491 missense probably benign 0.00
R4350:Sppl2b UTSW 10 80862726 missense probably benign 0.12
R5146:Sppl2b UTSW 10 80867640 makesense probably null
R5698:Sppl2b UTSW 10 80866045 splice site probably null
R6969:Sppl2b UTSW 10 80865125 missense probably damaging 1.00
R7649:Sppl2b UTSW 10 80867419 missense probably benign 0.02
R8212:Sppl2b UTSW 10 80865359 missense probably damaging 1.00
R8263:Sppl2b UTSW 10 80866069 frame shift probably null
R8265:Sppl2b UTSW 10 80866069 frame shift probably null
R8367:Sppl2b UTSW 10 80863191 missense probably benign 0.02
R8398:Sppl2b UTSW 10 80866068 frame shift probably null
R8398:Sppl2b UTSW 10 80866069 frame shift probably null
R8400:Sppl2b UTSW 10 80866069 frame shift probably null
R8480:Sppl2b UTSW 10 80866069 frame shift probably null
R8481:Sppl2b UTSW 10 80866069 frame shift probably null
R8505:Sppl2b UTSW 10 80866069 frame shift probably null
R8817:Sppl2b UTSW 10 80866069 frame shift probably null
R8818:Sppl2b UTSW 10 80866069 frame shift probably null
R8832:Sppl2b UTSW 10 80866069 frame shift probably null
Z1176:Sppl2b UTSW 10 80867425 missense possibly damaging 0.56
Posted On2014-02-04