Incidental Mutation 'IGL02203:Sppl2a'
| ID |
284385 |
| 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 # |
IGL02203
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
126732311-126775155 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 126746861 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 489
(M489K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028844
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028844]
|
| AlphaFold |
Q9JJF9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000028844
AA Change: M489K
PolyPhen 2
Score 0.683 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000028844
Gene: ENSMUSG00000027366
AA Change: M489K
| 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 |
unknown
Transcript: ENSMUST00000143700
AA Change: M235K
|
| SMART Domains |
Protein: ENSMUSP00000119064
Gene: ENSMUSG00000027366
AA Change: M235K
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca4 |
A |
C |
3: 121,973,457 (GRCm39) |
D1095A |
probably benign |
Het |
| Acmsd |
T |
C |
1: 127,666,342 (GRCm39) |
|
probably benign |
Het |
| Ap5m1 |
G |
A |
14: 49,317,715 (GRCm39) |
G324D |
probably damaging |
Het |
| Api5 |
T |
G |
2: 94,255,419 (GRCm39) |
N252T |
probably benign |
Het |
| Arhgap45 |
T |
A |
10: 79,863,387 (GRCm39) |
C743* |
probably null |
Het |
| Clpb |
A |
G |
7: 101,428,544 (GRCm39) |
T435A |
probably damaging |
Het |
| Csmd3 |
C |
T |
15: 47,713,073 (GRCm39) |
|
probably null |
Het |
| Cyp3a11 |
T |
G |
5: 145,805,976 (GRCm39) |
R130S |
probably damaging |
Het |
| Dennd4c |
A |
G |
4: 86,721,173 (GRCm39) |
T612A |
probably benign |
Het |
| Dipk1a |
A |
G |
5: 108,059,647 (GRCm39) |
L57S |
probably benign |
Het |
| Eng |
A |
G |
2: 32,561,498 (GRCm39) |
I170V |
probably benign |
Het |
| Gfra2 |
T |
A |
14: 71,204,524 (GRCm39) |
M74K |
possibly damaging |
Het |
| Gpr137c |
A |
G |
14: 45,514,944 (GRCm39) |
T268A |
possibly damaging |
Het |
| Gramd2b |
T |
C |
18: 56,612,026 (GRCm39) |
|
probably null |
Het |
| Il13ra2 |
A |
G |
X: 146,166,669 (GRCm39) |
L367P |
possibly damaging |
Het |
| Insr |
T |
C |
8: 3,205,817 (GRCm39) |
H1324R |
probably benign |
Het |
| Lgi3 |
A |
G |
14: 70,771,958 (GRCm39) |
E215G |
possibly damaging |
Het |
| Mst1r |
A |
G |
9: 107,790,348 (GRCm39) |
T654A |
possibly damaging |
Het |
| Mst1r |
A |
G |
9: 107,785,068 (GRCm39) |
Y242C |
probably damaging |
Het |
| Myo16 |
A |
T |
8: 10,620,132 (GRCm39) |
Q1561L |
possibly damaging |
Het |
| Obscn |
A |
C |
11: 58,973,134 (GRCm39) |
M2222R |
probably damaging |
Het |
| Or10ak13 |
A |
T |
4: 118,639,626 (GRCm39) |
V52D |
possibly damaging |
Het |
| Or13p10 |
A |
T |
4: 118,523,379 (GRCm39) |
I222F |
probably benign |
Het |
| Or2ag1 |
A |
G |
7: 106,313,837 (GRCm39) |
I17T |
probably benign |
Het |
| Or5ap2 |
T |
G |
2: 85,680,432 (GRCm39) |
F212C |
probably damaging |
Het |
| Or8b50 |
A |
G |
9: 38,518,719 (GRCm39) |
|
probably benign |
Het |
| Plch1 |
G |
A |
3: 63,606,160 (GRCm39) |
P1239L |
possibly damaging |
Het |
| Ptprm |
A |
T |
17: 67,260,118 (GRCm39) |
I499K |
probably damaging |
Het |
| Rabep2 |
G |
T |
7: 126,039,566 (GRCm39) |
R331L |
possibly damaging |
Het |
| Ror2 |
C |
T |
13: 53,264,764 (GRCm39) |
S764N |
probably damaging |
Het |
| Sema7a |
A |
G |
9: 57,864,889 (GRCm39) |
T397A |
probably benign |
Het |
| Sftpc |
A |
C |
14: 70,759,309 (GRCm39) |
M124R |
probably damaging |
Het |
| Slc25a38 |
A |
G |
9: 119,949,878 (GRCm39) |
Y198C |
probably damaging |
Het |
| Swt1 |
T |
A |
1: 151,246,377 (GRCm39) |
K849N |
probably benign |
Het |
| Ttc3 |
T |
A |
16: 94,219,457 (GRCm39) |
|
probably benign |
Het |
| Vmn2r63 |
A |
G |
7: 42,553,432 (GRCm39) |
V608A |
probably benign |
Het |
| Vwf |
A |
G |
6: 125,619,369 (GRCm39) |
Y1349C |
probably damaging |
Het |
| Ybx3 |
A |
G |
6: 131,345,371 (GRCm39) |
V265A |
probably benign |
Het |
| Zfp318 |
C |
T |
17: 46,707,736 (GRCm39) |
R265* |
probably null |
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 |
|
|
IGL01712:Sppl2a
|
APN |
2 |
126,746,823 (GRCm39) |
splice site |
probably benign |
|
|
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 |
2015-04-16 |
Incidental Mutation