Incidental Mutation 'R0023:Sppl2a'
ID 178040
Institutional Source Beutler Lab
Gene Symbol Sppl2a
Ensembl Gene ENSMUSG00000027366
Gene Name signal peptide peptidase like 2A
Synonyms C130089K23Rik, 2010106G01Rik
MMRRC Submission 038318-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.081) question?
Stock # R0023 (G1)
Quality Score 66
Status Validated
Chromosome 2
Chromosomal Location 126732311-126775155 bp(-) (GRCm39)
Type of Mutation splice site (7 bp from exon)
DNA Base Change (assembly) T to A at 126755213 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 noncoding transcript
Transcript: ENSMUST00000125592
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 0.9755 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.8%
  • 20x: 96.2%
Validation Efficiency 98% (59/60)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4fm1 A C 4: 144,255,567 (GRCm39) D329A probably damaging Het
Abcc12 T A 8: 87,264,962 (GRCm39) H661L probably damaging Het
Abcg4 A G 9: 44,186,672 (GRCm39) Y491H probably damaging Het
Acsbg2 C G 17: 57,154,710 (GRCm39) A481P probably damaging Het
Aknad1 T A 3: 108,688,501 (GRCm39) C610S probably benign Het
Ang4 G T 14: 52,001,860 (GRCm39) Y29* probably null Het
Aqp11 A T 7: 97,375,896 (GRCm39) I251N possibly damaging Het
Arid1a G T 4: 133,418,487 (GRCm39) T1032K unknown Het
Atg16l1 T C 1: 87,717,187 (GRCm39) V538A probably benign Het
Bbs1 C T 19: 4,956,042 (GRCm39) A44T probably damaging Het
Bpifa3 A C 2: 153,980,070 (GRCm39) H234P probably damaging Het
Btbd9 A T 17: 30,749,188 (GRCm39) V42E probably damaging Het
Carmil3 C G 14: 55,730,333 (GRCm39) S15R probably damaging Het
Casp8ap2 A G 4: 32,640,185 (GRCm39) D413G probably damaging Het
Cfap44 T A 16: 44,241,583 (GRCm39) F651L probably benign Het
Clcn3 A T 8: 61,386,104 (GRCm39) probably benign Het
Crip3 A G 17: 46,741,920 (GRCm39) K136E probably damaging Het
Ctr9 G A 7: 110,643,154 (GRCm39) A509T possibly damaging Het
D930020B18Rik T C 10: 121,525,726 (GRCm39) S367P probably damaging Het
Dhrs11 A T 11: 84,713,976 (GRCm39) L125H probably damaging Het
Dst C T 1: 34,228,200 (GRCm39) P1606L probably damaging Het
Efcab7 A T 4: 99,758,834 (GRCm39) probably benign Het
Eif2ak4 A C 2: 118,293,202 (GRCm39) S1253R probably damaging Het
Emc1 A G 4: 139,098,320 (GRCm39) D767G probably damaging Het
Fads1 G A 19: 10,164,261 (GRCm39) probably benign Het
Fbxw26 T C 9: 109,547,079 (GRCm39) T449A probably benign Het
Frrs1 T C 3: 116,690,437 (GRCm39) F27L probably damaging Het
Fry T C 5: 150,374,563 (GRCm39) S2358P possibly damaging Het
Gas6 A C 8: 13,520,344 (GRCm39) L448R probably damaging Het
Hikeshi T C 7: 89,569,412 (GRCm39) probably benign Het
Ifngr1 C T 10: 19,485,197 (GRCm39) R399* probably null Het
Itga2 G A 13: 115,007,032 (GRCm39) S432L possibly damaging Het
Knl1 C T 2: 118,933,030 (GRCm39) T2063I possibly damaging Het
Lyzl6 A G 11: 103,527,697 (GRCm39) V9A probably benign Het
Macf1 A T 4: 123,382,107 (GRCm39) probably benign Het
Myo6 T C 9: 80,190,816 (GRCm39) V789A possibly damaging Het
Myo9b A T 8: 71,786,412 (GRCm39) R693W probably damaging Het
Nasp A G 4: 116,462,968 (GRCm39) probably benign Het
Nr1i3 T C 1: 171,044,900 (GRCm39) F247L probably damaging Het
Plekhs1 T G 19: 56,466,948 (GRCm39) S260A probably damaging Het
Rpl21-ps6 T C 17: 56,222,536 (GRCm39) noncoding transcript Het
Rtcb A T 10: 85,785,315 (GRCm39) probably benign Het
Suco A T 1: 161,673,154 (GRCm39) probably null Het
Tnn T A 1: 159,932,498 (GRCm39) T1075S probably benign Het
Traf3 T A 12: 111,209,912 (GRCm39) C169* probably null Het
Ucp3 G T 7: 100,134,250 (GRCm39) V288L probably benign Het
Ulk3 C A 9: 57,497,639 (GRCm39) C4* probably null Het
Vmn1r73 A T 7: 11,490,997 (GRCm39) T272S probably benign Het
Vmn2r115 G A 17: 23,565,252 (GRCm39) E380K probably benign Het
Vmn2r3 T A 3: 64,182,787 (GRCm39) N304I probably damaging Het
Xylt1 G T 7: 117,233,928 (GRCm39) G485V probably damaging Het
Yars1 A G 4: 129,090,981 (GRCm39) T130A probably benign Het
Zfp652 A T 11: 95,644,295 (GRCm39) R205* probably null 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
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
R8136:Sppl2a UTSW 2 126,755,201 (GRCm39) splice site probably null
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'- TATCCGACACATGGAGGGTGAACG -3'
(R):5'- CTGAACTCCAGTGAAGTGAAGTGGTG -3'

Sequencing Primer
(F):5'- GGTGAACGGTATGACTATACTTCCC -3'
(R):5'- CCTCCCTTTAGAATGGTGAGAGC -3'
Posted On 2014-05-07