Incidental Mutation 'IGL00781:Sppl2a'
| ID |
14227 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Sppl2a
|
| Ensembl Gene |
ENSMUSG00000027366 |
| Gene Name |
signal peptide peptidase like 2A |
| Synonyms |
C130089K23Rik, 2010106G01Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.080)
|
| Stock # |
IGL00781
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
126732311-126775155 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 126761640 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 288
(N288I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028844
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028844]
|
| AlphaFold |
Q9JJF9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028844
AA Change: N288I
PolyPhen 2
Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000028844
Gene: ENSMUSG00000027366
AA Change: N288I
| Domain | Start | End | E-Value | Type |
|---|
|
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 |
unknown
Transcript: ENSMUST00000143700
AA Change: N16I
|
| SMART Domains |
Protein: ENSMUSP00000119064
Gene: ENSMUSG00000027366
AA Change: N16I
| Domain | Start | End | E-Value | Type |
|---|
|
PSN
|
3 |
233 |
1.27e-60 |
SMART |
|
| 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: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acss3 |
A |
G |
10: 106,801,887 (GRCm39) |
S489P |
probably benign |
Het |
| Adam8 |
A |
T |
7: 139,567,158 (GRCm39) |
N431K |
probably damaging |
Het |
| Add1 |
A |
G |
5: 34,770,702 (GRCm39) |
H271R |
probably damaging |
Het |
| Adgrv1 |
G |
A |
13: 81,726,349 (GRCm39) |
L559F |
probably benign |
Het |
| Cdk17 |
A |
G |
10: 93,068,278 (GRCm39) |
Y312C |
probably damaging |
Het |
| Cemip |
A |
G |
7: 83,596,488 (GRCm39) |
I1092T |
possibly damaging |
Het |
| Col20a1 |
G |
T |
2: 180,645,272 (GRCm39) |
V885F |
possibly damaging |
Het |
| Dcc |
A |
G |
18: 71,942,266 (GRCm39) |
S284P |
probably benign |
Het |
| Ercc4 |
T |
C |
16: 12,943,233 (GRCm39) |
V284A |
possibly damaging |
Het |
| Fam184b |
A |
T |
5: 45,712,534 (GRCm39) |
|
probably null |
Het |
| Fbln7 |
G |
A |
2: 128,735,771 (GRCm39) |
R253Q |
possibly damaging |
Het |
| Gfm2 |
T |
C |
13: 97,285,847 (GRCm39) |
F112S |
probably damaging |
Het |
| Gxylt1 |
C |
T |
15: 93,152,273 (GRCm39) |
R222H |
probably damaging |
Het |
| Madd |
T |
C |
2: 90,977,273 (GRCm39) |
I1385V |
probably benign |
Het |
| Pkn3 |
C |
A |
2: 29,973,402 (GRCm39) |
|
probably benign |
Het |
| St14 |
A |
G |
9: 31,015,075 (GRCm39) |
S308P |
probably damaging |
Het |
| Syne2 |
C |
A |
12: 76,070,836 (GRCm39) |
P4430T |
probably benign |
Het |
| Taf6l |
C |
T |
19: 8,751,025 (GRCm39) |
G43D |
probably damaging |
Het |
| Trim11 |
T |
C |
11: 58,881,523 (GRCm39) |
L472P |
probably benign |
Het |
| Usp2 |
C |
T |
9: 44,000,462 (GRCm39) |
R284* |
probably null |
Het |
|
| Other mutations in Sppl2a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
|
| Posted On |
2012-12-06 |
Incidental Mutation