Incidental Mutation 'IGL01572:Sppl2a'
| ID |
91153 |
| 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: 0.081)
|
| Stock # |
IGL01572
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
126732311-126775155 bp(-) (GRCm39) |
| Type of Mutation |
splice site (6 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 126762232 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
| 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 |
probably null
Transcript: ENSMUST00000143700
|
| SMART Domains |
Protein: ENSMUSP00000119064
Gene: ENSMUSG00000027366
| 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: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp8a1 |
A |
G |
5: 67,824,994 (GRCm39) |
V779A |
probably benign |
Het |
| Atrn |
T |
C |
2: 130,844,715 (GRCm39) |
S1199P |
probably damaging |
Het |
| BC051076 |
C |
A |
5: 88,112,549 (GRCm39) |
|
probably benign |
Het |
| Cdh17 |
T |
C |
4: 11,784,621 (GRCm39) |
|
probably benign |
Het |
| Ceacam20 |
T |
C |
7: 19,708,199 (GRCm39) |
V268A |
probably damaging |
Het |
| Cntn2 |
T |
G |
1: 132,455,909 (GRCm39) |
D203A |
probably damaging |
Het |
| Cped1 |
A |
G |
6: 22,051,300 (GRCm39) |
N148D |
probably benign |
Het |
| Dnah10 |
T |
A |
5: 124,861,010 (GRCm39) |
V2131E |
probably damaging |
Het |
| Dsn1 |
A |
G |
2: 156,841,054 (GRCm39) |
|
probably null |
Het |
| Eif5b |
A |
T |
1: 38,061,335 (GRCm39) |
K409* |
probably null |
Het |
| Fam237b |
T |
A |
5: 5,625,475 (GRCm39) |
I57K |
probably damaging |
Het |
| Gaa |
T |
C |
11: 119,175,003 (GRCm39) |
V868A |
probably benign |
Het |
| Igf1r |
A |
G |
7: 67,843,189 (GRCm39) |
T767A |
probably benign |
Het |
| Ints7 |
T |
A |
1: 191,347,905 (GRCm39) |
V759E |
possibly damaging |
Het |
| Jarid2 |
A |
G |
13: 45,038,311 (GRCm39) |
T171A |
probably damaging |
Het |
| Krt33b |
T |
C |
11: 99,917,378 (GRCm39) |
D158G |
probably damaging |
Het |
| Krt87 |
T |
C |
15: 101,334,414 (GRCm39) |
R198G |
probably benign |
Het |
| Mst1r |
C |
A |
9: 107,788,791 (GRCm39) |
R437S |
probably damaging |
Het |
| Myh15 |
T |
A |
16: 48,920,585 (GRCm39) |
I458K |
possibly damaging |
Het |
| Or8k37 |
T |
C |
2: 86,469,283 (GRCm39) |
I256M |
possibly damaging |
Het |
| Scn9a |
A |
T |
2: 66,324,230 (GRCm39) |
N1418K |
probably benign |
Het |
| Styxl2 |
G |
T |
1: 165,927,941 (GRCm39) |
A557E |
probably benign |
Het |
| Zfp595 |
A |
T |
13: 67,465,465 (GRCm39) |
I266K |
possibly damaging |
Het |
|
| Other mutations in Sppl2a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
|
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 |
2013-12-09 |
Incidental Mutation