Incidental Mutation 'R0799:Sppl2a'
ID 76508
Institutional Source Beutler Lab
Gene Symbol Sppl2a
Ensembl Gene ENSMUSG00000027366
Gene Name signal peptide peptidase like 2A
Synonyms C130089K23Rik, 2010106G01Rik
MMRRC Submission 038979-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.091) question?
Stock # R0799 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 126890391-126933235 bp(-) (GRCm38)
Type of Mutation splice site
DNA Base Change (assembly) C to A at 126920307 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000028844]
AlphaFold Q9JJF9
Predicted Effect probably benign
Transcript: ENSMUST00000028844
SMART Domains Protein: ENSMUSP00000028844
Gene: ENSMUSG00000027366

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 noncoding transcript
Transcript: ENSMUST00000125592
Predicted Effect probably benign
Transcript: ENSMUST00000143700
SMART Domains Protein: ENSMUSP00000119064
Gene: ENSMUSG00000027366

PSN 3 233 1.27e-60 SMART
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.4%
  • 20x: 94.9%
Validation Efficiency 100% (60/60)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921539E11Rik G A 4: 103,242,904 (GRCm38) T33I possibly damaging Het
4930555F03Rik A G 8: 49,495,439 (GRCm38) noncoding transcript Het
Abcf3 T C 16: 20,559,334 (GRCm38) L538P probably damaging Het
Adamts6 T C 13: 104,314,271 (GRCm38) S321P probably damaging Het
Adgra2 G A 8: 27,112,495 (GRCm38) R362H probably damaging Het
AI597479 T G 1: 43,111,170 (GRCm38) S147A probably benign Het
Ajm1 A G 2: 25,578,562 (GRCm38) S446P possibly damaging Het
Ampd3 T C 7: 110,800,697 (GRCm38) F340L probably damaging Het
Atad3a A G 4: 155,747,470 (GRCm38) V449A probably damaging Het
Bmal2 T C 6: 146,823,253 (GRCm38) probably benign Het
Bpifa6 A T 2: 153,992,272 (GRCm38) D328V probably benign Het
Brca2 T C 5: 150,560,193 (GRCm38) S2903P probably damaging Het
Cct3 A T 3: 88,299,345 (GRCm38) probably null Het
Cdk4 A G 10: 127,064,994 (GRCm38) T172A probably damaging Het
Chd5 A G 4: 152,384,159 (GRCm38) D1760G probably damaging Het
Chd7 A G 4: 8,801,310 (GRCm38) probably benign Het
Crybb2 T C 5: 113,062,171 (GRCm38) I109V probably benign Het
Csmd3 A G 15: 48,185,384 (GRCm38) probably benign Het
Dach1 G T 14: 98,168,615 (GRCm38) T232K possibly damaging Het
Dnlz A G 2: 26,351,473 (GRCm38) V81A possibly damaging Het
Epb41l4b A G 4: 57,086,003 (GRCm38) S191P probably damaging Het
Eps15l1 C T 8: 72,346,085 (GRCm38) D821N probably damaging Het
Fam186a G A 15: 99,942,012 (GRCm38) P2117L probably damaging Het
Fam83d T A 2: 158,779,888 (GRCm38) F173Y probably damaging Het
Gm9116 A T 3: 93,910,465 (GRCm38) R214S probably benign Het
Gtpbp1 A G 15: 79,716,200 (GRCm38) I445V probably damaging Het
H2-M2 G A 17: 37,482,749 (GRCm38) T122I probably damaging Het
Hgd C T 16: 37,628,609 (GRCm38) probably benign Het
Hip1r A G 5: 123,996,941 (GRCm38) Y380C probably benign Het
Hspa8 G A 9: 40,803,841 (GRCm38) G389R probably damaging Het
Htt C A 5: 34,817,753 (GRCm38) D622E probably benign Het
Iqca1 C A 1: 90,142,731 (GRCm38) G133V probably null Het
Kdm4a A G 4: 118,146,992 (GRCm38) probably null Het
Map3k9 G A 12: 81,722,269 (GRCm38) P1025S probably benign Het
Olfr911-ps1 G A 9: 38,524,141 (GRCm38) M136I probably benign Het
Pabpc1l C A 2: 164,031,214 (GRCm38) H135N probably benign Het
Pacsin2 A T 15: 83,379,797 (GRCm38) S346R probably benign Het
Pcdhb20 A G 18: 37,505,885 (GRCm38) Y488C probably damaging Het
Pkdcc G A 17: 83,223,918 (GRCm38) C452Y probably damaging Het
Poglut1 T C 16: 38,534,721 (GRCm38) probably null Het
Prss59 A G 6: 40,928,599 (GRCm38) M41T probably damaging Het
Pxk T C 14: 8,148,123 (GRCm38) F409L probably benign Het
Pygm G A 19: 6,386,018 (GRCm38) probably benign Het
Rabep2 T C 7: 126,438,724 (GRCm38) S223P probably damaging Het
Rpp40 C T 13: 35,902,051 (GRCm38) R109H probably benign Het
Sbf2 T C 7: 110,341,355 (GRCm38) Y1266C possibly damaging Het
Slc5a4a T C 10: 76,176,534 (GRCm38) V346A probably benign Het
Smpd3 G T 8: 106,264,789 (GRCm38) H377Q possibly damaging Het
Tas2r134 T C 2: 51,628,373 (GRCm38) I288T probably benign Het
Trim35 T A 14: 66,309,201 (GRCm38) H472Q probably damaging Het
Trpm5 C A 7: 143,078,351 (GRCm38) R907L probably damaging Het
Ube2e2 G T 14: 18,630,393 (GRCm38) S56* probably null Het
Vmn2r88 A C 14: 51,414,502 (GRCm38) R432S possibly damaging Het
Wdr24 A G 17: 25,826,128 (GRCm38) Y279C probably damaging Het
Wdr90 A G 17: 25,860,130 (GRCm38) V246A probably benign Het
Xrn2 T A 2: 147,029,898 (GRCm38) N385K probably benign Het
Zfp28 T A 7: 6,384,183 (GRCm38) S73T possibly damaging Het
Zfp345 T C 2: 150,472,351 (GRCm38) E422G probably benign Het
Zhx2 A G 15: 57,821,313 (GRCm38) E26G probably benign Het
Other mutations in Sppl2a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00781:Sppl2a APN 2 126,919,720 (GRCm38) missense probably benign 0.04
IGL01471:Sppl2a APN 2 126,917,867 (GRCm38) nonsense probably null
IGL01572:Sppl2a APN 2 126,920,312 (GRCm38) splice site probably null
IGL01712:Sppl2a APN 2 126,904,903 (GRCm38) splice site probably benign
IGL02203:Sppl2a APN 2 126,904,941 (GRCm38) missense possibly damaging 0.68
IGL02572:Sppl2a APN 2 126,926,296 (GRCm38) missense probably benign 0.07
abra UTSW 2 126,923,594 (GRCm38) missense probably benign 0.00
abra2 UTSW 2 126,920,313 (GRCm38) splice site probably null
isaac UTSW 2 126,913,575 (GRCm38) missense probably damaging 1.00
jacob UTSW 2 126,913,281 (GRCm38) splice site probably null
PIT4431001:Sppl2a UTSW 2 126,923,476 (GRCm38) missense probably damaging 1.00
R0023:Sppl2a UTSW 2 126,913,293 (GRCm38) splice site probably null
R0240:Sppl2a UTSW 2 126,920,336 (GRCm38) missense probably benign 0.14
R0240:Sppl2a UTSW 2 126,920,336 (GRCm38) missense probably benign 0.14
R0458:Sppl2a UTSW 2 126,904,959 (GRCm38) missense probably damaging 1.00
R0627:Sppl2a UTSW 2 126,920,417 (GRCm38) unclassified probably benign
R1029:Sppl2a UTSW 2 126,923,594 (GRCm38) missense probably benign 0.00
R1245:Sppl2a UTSW 2 126,913,521 (GRCm38) splice site probably benign
R1669:Sppl2a UTSW 2 126,917,794 (GRCm38) splice site probably benign
R2047:Sppl2a UTSW 2 126,926,852 (GRCm38) missense probably damaging 1.00
R2215:Sppl2a UTSW 2 126,927,834 (GRCm38) missense probably benign 0.00
R2428:Sppl2a UTSW 2 126,912,695 (GRCm38) missense possibly damaging 0.93
R3522:Sppl2a UTSW 2 126,920,322 (GRCm38) missense possibly damaging 0.66
R4653:Sppl2a UTSW 2 126,920,313 (GRCm38) splice site probably null
R5398:Sppl2a UTSW 2 126,919,718 (GRCm38) missense probably benign 0.00
R6382:Sppl2a UTSW 2 126,917,029 (GRCm38) splice site probably null
R6888:Sppl2a UTSW 2 126,904,992 (GRCm38) missense probably damaging 0.99
R6892:Sppl2a UTSW 2 126,913,575 (GRCm38) missense probably damaging 1.00
R7021:Sppl2a UTSW 2 126,927,743 (GRCm38) splice site probably null
R7750:Sppl2a UTSW 2 126,919,705 (GRCm38) missense probably damaging 1.00
R8129:Sppl2a UTSW 2 126,923,470 (GRCm38) missense probably damaging 1.00
R8136:Sppl2a UTSW 2 126,913,281 (GRCm38) splice site probably null
R8772:Sppl2a UTSW 2 126,926,311 (GRCm38) missense probably benign 0.16
R9128:Sppl2a UTSW 2 126,923,473 (GRCm38) missense probably damaging 1.00
R9144:Sppl2a UTSW 2 126,927,823 (GRCm38) missense probably benign 0.00
RF016:Sppl2a UTSW 2 126,927,774 (GRCm38) missense probably benign 0.01
Predicted Primers PCR Primer

Sequencing Primer
(F):5'- aggaggcagaggcagac -3'
Posted On 2013-10-16