Incidental Mutation 'R5398:Sppl2a'
ID |
429785 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sppl2a
|
Ensembl Gene |
ENSMUSG00000027366 |
Gene Name |
signal peptide peptidase like 2A |
Synonyms |
C130089K23Rik, 2010106G01Rik |
MMRRC Submission |
042969-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.080)
|
Stock # |
R5398 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
126732311-126775155 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 126761638 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 289
(I289V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000028844
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028844]
|
AlphaFold |
Q9JJF9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000028844
AA Change: I289V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000028844 Gene: ENSMUSG00000027366 AA Change: I289V
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: I17V
|
SMART Domains |
Protein: ENSMUSP00000119064 Gene: ENSMUSG00000027366 AA Change: I17V
Domain | Start | End | E-Value | Type |
PSN
|
3 |
233 |
1.27e-60 |
SMART |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.4%
|
Validation Efficiency |
95% (59/62) |
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: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam32 |
A |
G |
8: 25,362,595 (GRCm39) |
L34P |
possibly damaging |
Het |
Adam34 |
A |
C |
8: 44,104,278 (GRCm39) |
C456G |
probably damaging |
Het |
Anapc15 |
C |
T |
7: 101,547,810 (GRCm39) |
P68L |
probably damaging |
Het |
Atp8b3 |
T |
C |
10: 80,365,533 (GRCm39) |
D407G |
probably damaging |
Het |
Btbd19 |
G |
A |
4: 116,980,957 (GRCm39) |
A104V |
probably damaging |
Het |
Chac1 |
T |
G |
2: 119,183,725 (GRCm39) |
L109R |
possibly damaging |
Het |
Csf2rb |
A |
G |
15: 78,232,820 (GRCm39) |
D709G |
probably benign |
Het |
Ddx42 |
T |
A |
11: 106,115,724 (GRCm39) |
D112E |
probably benign |
Het |
Dnah5 |
A |
G |
15: 28,293,872 (GRCm39) |
K1326E |
probably benign |
Het |
Dnajc3 |
T |
A |
14: 119,209,799 (GRCm39) |
Y291* |
probably null |
Het |
Dsg2 |
T |
C |
18: 20,712,190 (GRCm39) |
F109L |
probably benign |
Het |
Egfl8 |
T |
C |
17: 34,833,613 (GRCm39) |
|
probably benign |
Het |
Emb |
T |
A |
13: 117,404,088 (GRCm39) |
I280N |
probably damaging |
Het |
Gcc2 |
C |
A |
10: 58,105,329 (GRCm39) |
N188K |
probably benign |
Het |
Gdpd4 |
A |
T |
7: 97,621,185 (GRCm39) |
H166L |
probably benign |
Het |
Gm4787 |
G |
C |
12: 81,424,604 (GRCm39) |
T518S |
probably benign |
Het |
Gm8741 |
G |
T |
17: 35,555,062 (GRCm39) |
|
noncoding transcript |
Het |
Itga11 |
A |
G |
9: 62,653,205 (GRCm39) |
T360A |
probably benign |
Het |
Kctd1 |
A |
G |
18: 15,195,322 (GRCm39) |
S434P |
possibly damaging |
Het |
Kdm5b |
G |
A |
1: 134,549,836 (GRCm39) |
|
probably null |
Het |
Kif24 |
T |
C |
4: 41,394,401 (GRCm39) |
E824G |
possibly damaging |
Het |
Lekr1 |
T |
A |
3: 65,688,807 (GRCm39) |
|
noncoding transcript |
Het |
Ociad1 |
T |
A |
5: 73,467,755 (GRCm39) |
V231E |
probably benign |
Het |
Or1e16 |
AGCGGTCGTAGGC |
AGC |
11: 73,286,480 (GRCm39) |
|
probably null |
Het |
Or1l4 |
C |
A |
2: 37,091,330 (GRCm39) |
Q26K |
probably benign |
Het |
Pcdhb1 |
T |
C |
18: 37,399,207 (GRCm39) |
L386P |
probably damaging |
Het |
Pcdhb21 |
G |
T |
18: 37,648,772 (GRCm39) |
V634L |
probably benign |
Het |
Pcnx2 |
T |
C |
8: 126,614,687 (GRCm39) |
K255E |
possibly damaging |
Het |
Pex5l |
T |
A |
3: 33,006,639 (GRCm39) |
I577F |
probably damaging |
Het |
Ppl |
A |
G |
16: 4,922,786 (GRCm39) |
M235T |
probably benign |
Het |
Prl7d1 |
T |
A |
13: 27,894,057 (GRCm39) |
I171F |
probably damaging |
Het |
Ptprt |
T |
C |
2: 161,769,512 (GRCm39) |
Y451C |
probably damaging |
Het |
Ranbp17 |
A |
T |
11: 33,424,998 (GRCm39) |
Y453N |
probably damaging |
Het |
Rgs16 |
C |
T |
1: 153,616,246 (GRCm39) |
T11I |
probably benign |
Het |
Rragb |
G |
A |
X: 151,923,550 (GRCm39) |
G24E |
probably damaging |
Het |
Scn9a |
T |
C |
2: 66,318,387 (GRCm39) |
Y1479C |
probably damaging |
Het |
Slc35f4 |
T |
C |
14: 49,536,304 (GRCm39) |
T294A |
probably damaging |
Het |
Slc39a6 |
A |
T |
18: 24,730,936 (GRCm39) |
I61N |
probably damaging |
Het |
Sntb1 |
C |
G |
15: 55,506,191 (GRCm39) |
G461R |
probably damaging |
Het |
Sp110 |
C |
G |
1: 85,516,839 (GRCm39) |
E219D |
probably damaging |
Het |
Spink12 |
A |
G |
18: 44,240,794 (GRCm39) |
D60G |
possibly damaging |
Het |
Srebf2 |
A |
G |
15: 82,055,443 (GRCm39) |
T176A |
probably damaging |
Het |
Syce1l |
T |
C |
8: 114,379,145 (GRCm39) |
L91S |
probably damaging |
Het |
Tchhl1 |
T |
C |
3: 93,378,910 (GRCm39) |
I538T |
probably benign |
Het |
Tcte1 |
C |
T |
17: 45,850,752 (GRCm39) |
Q343* |
probably null |
Het |
Tdpoz2 |
T |
G |
3: 93,559,441 (GRCm39) |
D177A |
probably damaging |
Het |
Thada |
T |
G |
17: 84,733,614 (GRCm39) |
D1011A |
probably benign |
Het |
Tnn |
T |
A |
1: 159,975,092 (GRCm39) |
M112L |
probably benign |
Het |
Traf1 |
T |
C |
2: 34,835,447 (GRCm39) |
E325G |
probably damaging |
Het |
Tyw1 |
T |
C |
5: 130,305,998 (GRCm39) |
|
probably benign |
Het |
Vmn2r111 |
C |
A |
17: 22,792,252 (GRCm39) |
M1I |
probably null |
Het |
Wdr11 |
C |
T |
7: 129,232,956 (GRCm39) |
T996M |
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 |
|
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 |
|
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'- TTAGCAACGGGGCTCATACAG -3'
(R):5'- GTTGAGGCAGTTATTATGCCTC -3'
Sequencing Primer
(F):5'- gctcatacagagatcctgtT -3'
(R):5'- AGGCAGTTATTATGCCTCATTGG -3'
|
Posted On |
2016-09-06 |