Incidental Mutation 'R8136:Sppl2a'
ID 643824
Institutional Source Beutler Lab
Gene Symbol Sppl2a
Ensembl Gene ENSMUSG00000027366
Gene Name signal peptide peptidase like 2A
Synonyms C130089K23Rik, 2010106G01Rik
MMRRC Submission 067564-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.081) question?
Stock # R8136 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 126732311-126775155 bp(-) (GRCm39)
Type of Mutation splice site (19 bp from exon)
DNA Base Change (assembly) T to C at 126755201 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000028844]
AlphaFold Q9JJF9
Predicted Effect probably null
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 null
Transcript: ENSMUST00000143700
SMART Domains Protein: ENSMUSP00000119064
Gene: ENSMUSG00000027366

DomainStartEndE-ValueType
PSN 3 233 1.27e-60 SMART
Meta Mutation Damage Score 0.9756 question?
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.6%
  • 10x: 98.9%
  • 20x: 96.7%
Validation Efficiency 98% (40/41)
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 T A 1: 71,287,556 (GRCm39) M2462L probably benign Het
Aptx A G 4: 40,688,107 (GRCm39) probably null Het
Bmpr1b A G 3: 141,562,143 (GRCm39) I348T probably damaging Het
Btnl1 T A 17: 34,599,014 (GRCm39) probably null Het
Col27a1 T A 4: 63,202,190 (GRCm39) D960E probably benign Het
Crygn G T 5: 24,956,090 (GRCm39) R172S probably benign Het
Cyp26a1 T C 19: 37,689,654 (GRCm39) I450T probably benign Het
Emc2 A G 15: 43,375,202 (GRCm39) Y233C probably benign Het
Esyt2 C A 12: 116,327,079 (GRCm39) T549K probably benign Het
Garin5a T C 7: 44,149,704 (GRCm39) F142L probably damaging Het
Gatm T C 2: 122,426,018 (GRCm39) D411G probably damaging Het
Gpr65 T C 12: 98,241,415 (GRCm39) Y23H probably damaging Het
Itpr1 A G 6: 108,415,321 (GRCm39) R1752G probably benign Het
Krtap4-1 GGCAGCAGGGGCTGCAGCAAGGGCTGCAGCAGGGGC GGCAGCAGGGGCTGCAGCAAGGGCTGCAGCAGGGGCTGCAGCAAGGGCTGCAGCAGGGGC 11: 99,518,660 (GRCm39) probably benign Het
Map3k19 A C 1: 127,751,492 (GRCm39) S620A probably damaging Het
Mcm9 A G 10: 53,487,439 (GRCm39) *543Q probably null Het
Mfsd2a A T 4: 122,845,660 (GRCm39) C164S probably benign Het
Mta1 C A 12: 113,095,298 (GRCm39) R484S probably damaging Het
Nlrp9a T G 7: 26,256,678 (GRCm39) F99V probably benign Het
Notch2 G A 3: 98,031,537 (GRCm39) C1137Y probably damaging Het
Or51a6 A T 7: 102,604,448 (GRCm39) M120K probably damaging Het
Pcnx1 A G 12: 81,964,780 (GRCm39) T316A probably benign Het
Peds1 A C 2: 167,486,879 (GRCm39) Y167D probably benign Het
Phf11a A G 14: 59,515,018 (GRCm39) V221A probably benign Het
Pigb A G 9: 72,929,602 (GRCm39) L327P possibly damaging Het
Rab3c A T 13: 110,317,554 (GRCm39) Y110* probably null Het
Sdk2 G A 11: 113,742,539 (GRCm39) T790M probably damaging Het
Skic3 A G 13: 76,261,222 (GRCm39) K131R probably benign Het
Slc22a2 C T 17: 12,824,917 (GRCm39) P260S probably damaging Het
Tnn T A 1: 159,934,630 (GRCm39) Q1261L probably damaging Het
Treml4 C A 17: 48,571,745 (GRCm39) Y49* probably null Het
Ubr3 T C 2: 69,851,523 (GRCm39) I1827T probably damaging Het
Vrtn C T 12: 84,696,809 (GRCm39) R520C probably damaging Het
Wipf1 G A 2: 73,267,879 (GRCm39) P173L possibly damaging Het
Wls C A 3: 159,578,761 (GRCm39) Q108K probably damaging Het
Zfp217 G A 2: 169,961,571 (GRCm39) S252F possibly damaging Het
Zfp39 A T 11: 58,782,228 (GRCm39) V178D probably damaging Het
Zfp777 C A 6: 48,021,559 (GRCm39) R21L probably benign Het
Other mutations in Sppl2a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00781:Sppl2a APN 2 126,761,640 (GRCm39) missense probably benign 0.04
IGL01471:Sppl2a APN 2 126,759,787 (GRCm39) nonsense probably null
IGL01572:Sppl2a APN 2 126,762,232 (GRCm39) splice site probably null
IGL01712:Sppl2a APN 2 126,746,823 (GRCm39) splice site probably benign
IGL02203:Sppl2a APN 2 126,746,861 (GRCm39) missense possibly damaging 0.68
IGL02572:Sppl2a APN 2 126,768,216 (GRCm39) missense probably benign 0.07
abra UTSW 2 126,765,514 (GRCm39) missense probably benign 0.00
abra2 UTSW 2 126,762,233 (GRCm39) splice site probably null
isaac UTSW 2 126,755,495 (GRCm39) missense probably damaging 1.00
jacob UTSW 2 126,755,201 (GRCm39) splice site probably null
PIT4431001:Sppl2a UTSW 2 126,765,396 (GRCm39) missense probably damaging 1.00
R0023:Sppl2a UTSW 2 126,755,213 (GRCm39) splice site probably null
R0240:Sppl2a UTSW 2 126,762,256 (GRCm39) missense probably benign 0.14
R0240:Sppl2a UTSW 2 126,762,256 (GRCm39) missense probably benign 0.14
R0458:Sppl2a UTSW 2 126,746,879 (GRCm39) missense probably damaging 1.00
R0627:Sppl2a UTSW 2 126,762,337 (GRCm39) unclassified probably benign
R0799:Sppl2a UTSW 2 126,762,227 (GRCm39) splice site probably benign
R1029:Sppl2a UTSW 2 126,765,514 (GRCm39) missense probably benign 0.00
R1245:Sppl2a UTSW 2 126,755,441 (GRCm39) splice site probably benign
R1669:Sppl2a UTSW 2 126,759,714 (GRCm39) splice site probably benign
R2047:Sppl2a UTSW 2 126,768,772 (GRCm39) missense probably damaging 1.00
R2215:Sppl2a UTSW 2 126,769,754 (GRCm39) missense probably benign 0.00
R2428:Sppl2a UTSW 2 126,754,615 (GRCm39) missense possibly damaging 0.93
R3522:Sppl2a UTSW 2 126,762,242 (GRCm39) missense possibly damaging 0.66
R4653:Sppl2a UTSW 2 126,762,233 (GRCm39) splice site probably null
R5398:Sppl2a UTSW 2 126,761,638 (GRCm39) missense probably benign 0.00
R6382:Sppl2a UTSW 2 126,758,949 (GRCm39) splice site probably null
R6888:Sppl2a UTSW 2 126,746,912 (GRCm39) missense probably damaging 0.99
R6892:Sppl2a UTSW 2 126,755,495 (GRCm39) missense probably damaging 1.00
R7021:Sppl2a UTSW 2 126,769,663 (GRCm39) splice site probably null
R7750:Sppl2a UTSW 2 126,761,625 (GRCm39) missense probably damaging 1.00
R8129:Sppl2a UTSW 2 126,765,390 (GRCm39) missense probably damaging 1.00
R8772:Sppl2a UTSW 2 126,768,231 (GRCm39) missense probably benign 0.16
R9128:Sppl2a UTSW 2 126,765,393 (GRCm39) missense probably damaging 1.00
R9144:Sppl2a UTSW 2 126,769,743 (GRCm39) missense probably benign 0.00
RF016:Sppl2a UTSW 2 126,769,694 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- TTATATCCGACACATGGAGGGTG -3'
(R):5'- CTCCTGTAACTCATTGGTCATGG -3'

Sequencing Primer
(F):5'- GGTGAACGGTATGACTATACTTCCC -3'
(R):5'- GGTGCATGCTAAGGTGTTACCAAAC -3'
Posted On 2020-08-26