Incidental Mutation 'IGL01712:Sppl2a'
ID104843
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sppl2a
Ensembl Gene ENSMUSG00000027366
Gene Namesignal peptide peptidase like 2A
SynonymsC130089K23Rik, 2010106G01Rik
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.348) question?
Stock #IGL01712
Quality Score
Status
Chromosome2
Chromosomal Location126890391-126933235 bp(-) (GRCm38)
Type of Mutationunclassified (7 bp from exon)
DNA Base Change (assembly) C to T at 126904903 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000028844 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028844]
Predicted Effect probably benign
Transcript: ENSMUST00000028844
SMART Domains Protein: ENSMUSP00000028844
Gene: ENSMUSG00000027366

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
Pfam:PA 58 153 1.7e-12 PFAM
transmembrane domain 173 195 N/A INTRINSIC
PSN 218 486 3.65e-102 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000143700
SMART Domains Protein: ENSMUSP00000119064
Gene: ENSMUSG00000027366

DomainStartEndE-ValueType
PSN 3 233 1.27e-60 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183494
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, which are transmembrane proteins with two conserved catalytic motifs localized within the membrane-spanning regions, as well as a member of the signal peptide peptidase-like protease (SPPL) family. This protein is expressed in all major adult human tissues and localizes to late endosomal compartments and lysosomal membranes. A pseudogene of this gene also lies on chromosome 15. [provided by RefSeq, Feb 2012]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased immunoglobulin prior to and after immunization and decreased splenic B cells, myeloid dendritic cells, T2 B cells and follicular B cells. Mice homozygous for a hypomorphic allele exhibit similar albeit less severe phenotypes. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb3 A G 1: 25,826,279 V161A probably benign Het
Arhgdib G A 6: 136,924,197 T178M probably damaging Het
Atp11a T A 8: 12,851,138 I989K probably benign Het
Bcam T C 7: 19,758,767 S498G probably damaging Het
Bcas3 A G 11: 85,581,048 I728V probably damaging Het
Cep57 G T 9: 13,813,417 P268Q possibly damaging Het
Clip4 T A 17: 71,799,041 I73N probably damaging Het
Cpa4 A G 6: 30,590,816 D371G possibly damaging Het
Dnah7a A G 1: 53,423,270 S3721P probably benign Het
Fam166a T C 2: 25,218,792 probably benign Het
Fcrla T C 1: 170,921,623 M114V probably null Het
Foxg1 T C 12: 49,385,620 S379P possibly damaging Het
Gatm T A 2: 122,600,825 Y227F possibly damaging Het
Gm8298 T A 3: 59,868,900 I164N possibly damaging Het
Grid2 A T 6: 64,665,915 D887V possibly damaging Het
Gtpbp6 A T 5: 110,104,379 I429N probably benign Het
Ighmbp2 A G 19: 3,273,038 probably benign Het
Irs4 T C X: 141,722,399 N934D unknown Het
Kif16b T A 2: 142,648,471 N1257I probably damaging Het
L1cam T C X: 73,864,438 Y169C probably damaging Het
L3mbtl3 A T 10: 26,276,235 M821K probably damaging Het
Lig3 A G 11: 82,789,541 probably benign Het
Lpin2 T A 17: 71,215,068 D70E probably damaging Het
Mcoln3 T C 3: 146,128,264 probably benign Het
Mgst2 T C 3: 51,664,571 V40A probably damaging Het
Mov10l1 T C 15: 89,024,766 S997P probably damaging Het
Mycbpap G T 11: 94,512,655 H187Q possibly damaging Het
Olfr136 A T 17: 38,335,957 T267S probably benign Het
Olfr652 T C 7: 104,565,019 V266A probably benign Het
Onecut2 T A 18: 64,386,602 S478T probably damaging Het
Pcdhb5 A T 18: 37,321,253 I229F probably damaging Het
Pfas A G 11: 68,991,060 V933A probably benign Het
Phldb2 A T 16: 45,751,429 I1200N probably damaging Het
Pla2g4e C A 2: 120,189,403 probably null Het
Prr36 G A 8: 4,215,243 P169L probably damaging Het
Rhot2 A G 17: 25,841,360 probably null Het
Serpina3f C T 12: 104,218,398 P267L probably damaging Het
Tas2r122 A T 6: 132,711,762 M56K possibly damaging Het
Tbxas1 A G 6: 39,081,060 T450A probably benign Het
Tex16 T C X: 112,093,754 S87P probably damaging Het
Them7 T A 2: 105,378,885 F183L possibly damaging Het
Tmbim7 A G 5: 3,670,074 T194A probably damaging Het
Tomm40 G T 7: 19,703,363 S224R probably benign Het
Top3a A T 11: 60,761,736 I129N probably damaging Het
Vmn1r28 A G 6: 58,265,408 T79A probably benign Het
Vmn2r61 A T 7: 42,260,237 Y62F probably damaging Het
Zbtb42 T C 12: 112,680,284 C298R probably benign Het
Zfp395 G A 14: 65,386,387 E102K probably damaging Het
Other mutations in Sppl2a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00781:Sppl2a APN 2 126919720 missense probably benign 0.04
IGL01471:Sppl2a APN 2 126917867 nonsense probably null
IGL01572:Sppl2a APN 2 126920312 unclassified probably null
IGL02203:Sppl2a APN 2 126904941 missense possibly damaging 0.68
IGL02572:Sppl2a APN 2 126926296 missense probably benign 0.07
abra UTSW 2 126923594 missense probably benign 0.00
abra2 UTSW 2 126920313 splice donor site probably null
R0023:Sppl2a UTSW 2 126913293 splice site probably null
R0240:Sppl2a UTSW 2 126920336 missense probably benign 0.14
R0240:Sppl2a UTSW 2 126920336 missense probably benign 0.14
R0458:Sppl2a UTSW 2 126904959 missense probably damaging 1.00
R0627:Sppl2a UTSW 2 126920417 splice site probably benign
R0799:Sppl2a UTSW 2 126920307 splice site probably benign
R1029:Sppl2a UTSW 2 126923594 missense probably benign 0.00
R1245:Sppl2a UTSW 2 126913521 splice site probably benign
R1669:Sppl2a UTSW 2 126917794 splice site probably benign
R2047:Sppl2a UTSW 2 126926852 missense probably damaging 1.00
R2215:Sppl2a UTSW 2 126927834 missense probably benign 0.00
R2428:Sppl2a UTSW 2 126912695 missense possibly damaging 0.93
R3522:Sppl2a UTSW 2 126920322 missense possibly damaging 0.66
R4653:Sppl2a UTSW 2 126920313 splice site probably null
R5398:Sppl2a UTSW 2 126919718 missense probably benign 0.00
R6382:Sppl2a UTSW 2 126917029 intron probably null
R6888:Sppl2a UTSW 2 126904992 missense probably damaging 0.99
R6892:Sppl2a UTSW 2 126913575 missense probably damaging 1.00
Posted On2014-01-21