Incidental Mutation 'IGL02203:Sppl2a'
ID284385
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: 0.368) question?
Stock #IGL02203
Quality Score
Status
Chromosome2
Chromosomal Location126890391-126933235 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 126904941 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Lysine at position 489 (M489K)
Ref Sequence ENSEMBL: ENSMUSP00000028844 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028844]
Predicted Effect possibly damaging
Transcript: ENSMUST00000028844
AA Change: M489K

PolyPhen 2 Score 0.683 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000028844
Gene: ENSMUSG00000027366
AA Change: M489K

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 unknown
Transcript: ENSMUST00000143700
AA Change: M235K
SMART Domains Protein: ENSMUSP00000119064
Gene: ENSMUSG00000027366
AA Change: M235K

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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 A C 3: 122,179,808 D1095A probably benign Het
Acmsd T C 1: 127,738,605 probably benign Het
Ap5m1 G A 14: 49,080,258 G324D probably damaging Het
Api5 T G 2: 94,425,074 N252T probably benign Het
Arhgap45 T A 10: 80,027,553 C743* probably null Het
Clpb A G 7: 101,779,337 T435A probably damaging Het
Csmd3 C T 15: 47,849,677 probably null Het
Cyp3a11 T G 5: 145,869,166 R130S probably damaging Het
Dennd4c A G 4: 86,802,936 T612A probably benign Het
Eng A G 2: 32,671,486 I170V probably benign Het
Fam69a A G 5: 107,911,781 L57S probably benign Het
Gfra2 T A 14: 70,967,084 M74K possibly damaging Het
Gpr137c A G 14: 45,277,487 T268A possibly damaging Het
Gramd3 T C 18: 56,478,954 probably null Het
Il13ra2 A G X: 147,383,673 L367P possibly damaging Het
Insr T C 8: 3,155,817 H1324R probably benign Het
Lgi3 A G 14: 70,534,518 E215G possibly damaging Het
Mst1r A G 9: 107,907,869 Y242C probably damaging Het
Mst1r A G 9: 107,913,149 T654A possibly damaging Het
Myo16 A T 8: 10,570,132 Q1561L possibly damaging Het
Obscn A C 11: 59,082,308 M2222R probably damaging Het
Olfr1020 T G 2: 85,850,088 F212C probably damaging Het
Olfr1337 A T 4: 118,782,429 V52D possibly damaging Het
Olfr62 A T 4: 118,666,182 I222F probably benign Het
Olfr705 A G 7: 106,714,630 I17T probably benign Het
Olfr914 A G 9: 38,607,423 probably benign Het
Plch1 G A 3: 63,698,739 P1239L possibly damaging Het
Ptprm A T 17: 66,953,123 I499K probably damaging Het
Rabep2 G T 7: 126,440,394 R331L possibly damaging Het
Ror2 C T 13: 53,110,728 S764N probably damaging Het
Sema7a A G 9: 57,957,606 T397A probably benign Het
Sftpc A C 14: 70,521,869 M124R probably damaging Het
Slc25a38 A G 9: 120,120,812 Y198C probably damaging Het
Swt1 T A 1: 151,370,626 K849N probably benign Het
Ttc3 T A 16: 94,418,598 probably benign Het
Vmn2r63 A G 7: 42,904,008 V608A probably benign Het
Vwf A G 6: 125,642,406 Y1349C probably damaging Het
Ybx3 A G 6: 131,368,408 V265A probably benign Het
Zfp318 C T 17: 46,396,810 R265* probably null 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 splice site probably null
IGL01712:Sppl2a APN 2 126904903 splice site probably benign
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 unclassified 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 On2015-04-16