Incidental Mutation 'IGL01712:Sppl2a'
ID |
104843 |
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 # |
IGL01712
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
126732311-126775155 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
C to T
at 126746823 bp (GRCm39)
|
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
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 |
probably benign
Transcript: ENSMUST00000143700
|
SMART Domains |
Protein: ENSMUSP00000119064 Gene: ENSMUSG00000027366
Domain | Start | End | E-Value | Type |
PSN
|
3 |
233 |
1.27e-60 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183494
|
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: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl2fm3 |
T |
A |
3: 59,776,321 (GRCm39) |
I164N |
possibly damaging |
Het |
Adgrb3 |
A |
G |
1: 25,865,360 (GRCm39) |
V161A |
probably benign |
Het |
Arhgdib |
G |
A |
6: 136,901,195 (GRCm39) |
T178M |
probably damaging |
Het |
Atp11a |
T |
A |
8: 12,901,138 (GRCm39) |
I989K |
probably benign |
Het |
Bcam |
T |
C |
7: 19,492,692 (GRCm39) |
S498G |
probably damaging |
Het |
Bcas3 |
A |
G |
11: 85,471,874 (GRCm39) |
I728V |
probably damaging |
Het |
Cep57 |
G |
T |
9: 13,724,713 (GRCm39) |
P119Q |
possibly damaging |
Het |
Cimip2a |
T |
C |
2: 25,108,804 (GRCm39) |
|
probably benign |
Het |
Clip4 |
T |
A |
17: 72,106,036 (GRCm39) |
I73N |
probably damaging |
Het |
Cpa4 |
A |
G |
6: 30,590,815 (GRCm39) |
D371G |
possibly damaging |
Het |
Dnah7a |
A |
G |
1: 53,462,429 (GRCm39) |
S3721P |
probably benign |
Het |
Fcrla |
T |
C |
1: 170,749,192 (GRCm39) |
|
probably null |
Het |
Foxg1 |
T |
C |
12: 49,432,403 (GRCm39) |
S379P |
possibly damaging |
Het |
Gatm |
T |
A |
2: 122,431,306 (GRCm39) |
Y227F |
possibly damaging |
Het |
Grid2 |
A |
T |
6: 64,642,899 (GRCm39) |
D887V |
possibly damaging |
Het |
Gtpbp6 |
A |
T |
5: 110,252,245 (GRCm39) |
I429N |
probably benign |
Het |
Ighmbp2 |
A |
G |
19: 3,323,038 (GRCm39) |
|
probably benign |
Het |
Irs4 |
T |
C |
X: 140,505,395 (GRCm39) |
N934D |
unknown |
Het |
Kif16b |
T |
A |
2: 142,490,391 (GRCm39) |
N1257I |
probably damaging |
Het |
L1cam |
T |
C |
X: 72,908,044 (GRCm39) |
Y169C |
probably damaging |
Het |
L3mbtl3 |
A |
T |
10: 26,152,133 (GRCm39) |
M821K |
probably damaging |
Het |
Lig3 |
A |
G |
11: 82,680,367 (GRCm39) |
|
probably benign |
Het |
Lpin2 |
T |
A |
17: 71,522,063 (GRCm39) |
D32E |
probably damaging |
Het |
Mcoln3 |
T |
C |
3: 145,834,019 (GRCm39) |
|
probably benign |
Het |
Mgst2 |
T |
C |
3: 51,571,992 (GRCm39) |
V40A |
probably damaging |
Het |
Mov10l1 |
T |
C |
15: 88,908,969 (GRCm39) |
S997P |
probably damaging |
Het |
Mycbpap |
G |
T |
11: 94,403,481 (GRCm39) |
H187Q |
possibly damaging |
Het |
Onecut2 |
T |
A |
18: 64,519,673 (GRCm39) |
S478T |
probably damaging |
Het |
Or2n1d |
A |
T |
17: 38,646,848 (GRCm39) |
T267S |
probably benign |
Het |
Or52h7 |
T |
C |
7: 104,214,226 (GRCm39) |
V266A |
probably benign |
Het |
Pcdhb5 |
A |
T |
18: 37,454,306 (GRCm39) |
I229F |
probably damaging |
Het |
Pfas |
A |
G |
11: 68,881,886 (GRCm39) |
V933A |
probably benign |
Het |
Phldb2 |
A |
T |
16: 45,571,792 (GRCm39) |
I1200N |
probably damaging |
Het |
Pla2g4e |
C |
A |
2: 120,019,884 (GRCm39) |
|
probably null |
Het |
Prr36 |
G |
A |
8: 4,265,243 (GRCm39) |
P169L |
probably damaging |
Het |
Rhot2 |
A |
G |
17: 26,060,334 (GRCm39) |
|
probably null |
Het |
Serpina3f |
C |
T |
12: 104,184,657 (GRCm39) |
P267L |
probably damaging |
Het |
Tas2r122 |
A |
T |
6: 132,688,725 (GRCm39) |
M56K |
possibly damaging |
Het |
Tbxas1 |
A |
G |
6: 39,057,994 (GRCm39) |
T450A |
probably benign |
Het |
Tex16 |
T |
C |
X: 111,003,451 (GRCm39) |
S87P |
probably damaging |
Het |
Them7 |
T |
A |
2: 105,209,230 (GRCm39) |
F183L |
possibly damaging |
Het |
Tmbim7 |
A |
G |
5: 3,720,074 (GRCm39) |
T116A |
probably damaging |
Het |
Tomm40 |
G |
T |
7: 19,437,288 (GRCm39) |
S224R |
probably benign |
Het |
Top3a |
A |
T |
11: 60,652,562 (GRCm39) |
I84N |
probably damaging |
Het |
Vmn1r28 |
A |
G |
6: 58,242,393 (GRCm39) |
T79A |
probably benign |
Het |
Vmn2r61 |
A |
T |
7: 41,909,661 (GRCm39) |
Y62F |
probably damaging |
Het |
Zbtb42 |
T |
C |
12: 112,646,718 (GRCm39) |
C298R |
probably benign |
Het |
Zfp395 |
G |
A |
14: 65,623,836 (GRCm39) |
E102K |
probably 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 |
|
IGL01572:Sppl2a
|
APN |
2 |
126,762,232 (GRCm39) |
splice site |
probably null |
|
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 |
2014-01-21 |