Incidental Mutation 'R2428:Sppl2a'
| ID |
250302 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sppl2a
|
| Ensembl Gene |
ENSMUSG00000027366 |
| Gene Name |
signal peptide peptidase like 2A |
| Synonyms |
C130089K23Rik, 2010106G01Rik |
| MMRRC Submission |
040390-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.081)
|
| Stock # |
R2428 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
126732311-126775155 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 126754615 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 403
(S403R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028844
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028844]
|
| AlphaFold |
Q9JJF9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000028844
AA Change: S403R
PolyPhen 2
Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000028844
Gene: ENSMUSG00000027366
AA Change: S403R
| 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: S149R
|
| SMART Domains |
Protein: ENSMUSP00000119064
Gene: ENSMUSG00000027366
AA Change: S149R
| Domain | Start | End | E-Value | Type |
|---|
|
PSN
|
3 |
233 |
1.27e-60 |
SMART |
|
| Meta Mutation Damage Score |
0.0786 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
| Validation Efficiency |
100% (31/31) |
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acad9 |
G |
A |
3: 36,145,072 (GRCm39) |
A624T |
probably benign |
Het |
| Astn1 |
C |
T |
1: 158,439,916 (GRCm39) |
A828V |
possibly damaging |
Het |
| Bag6 |
A |
C |
17: 35,366,151 (GRCm39) |
D1117A |
probably damaging |
Het |
| Col12a1 |
A |
T |
9: 79,509,533 (GRCm39) |
C3042S |
probably benign |
Het |
| Ctc1 |
G |
A |
11: 68,918,527 (GRCm39) |
V265I |
possibly damaging |
Het |
| Cubn |
T |
C |
2: 13,480,961 (GRCm39) |
Y298C |
probably damaging |
Het |
| Dmtn |
G |
A |
14: 70,850,843 (GRCm39) |
R183W |
probably damaging |
Het |
| F2rl2 |
T |
A |
13: 95,833,585 (GRCm39) |
I5N |
possibly damaging |
Het |
| Gpr137c |
A |
G |
14: 45,516,420 (GRCm39) |
Y336C |
probably damaging |
Het |
| Gstm6 |
T |
A |
3: 107,850,922 (GRCm39) |
I10F |
possibly damaging |
Het |
| Hivep3 |
T |
A |
4: 119,955,705 (GRCm39) |
C1340* |
probably null |
Het |
| Igf1 |
A |
G |
10: 87,700,683 (GRCm39) |
T36A |
probably damaging |
Het |
| Lrch1 |
T |
A |
14: 75,044,985 (GRCm39) |
|
probably benign |
Het |
| Mrpl40 |
A |
T |
16: 18,691,125 (GRCm39) |
I195N |
probably damaging |
Het |
| Myg1 |
G |
C |
15: 102,246,171 (GRCm39) |
G349R |
probably damaging |
Het |
| Ndufc1 |
A |
C |
3: 51,315,564 (GRCm39) |
|
probably null |
Het |
| Nfasc |
T |
C |
1: 132,523,392 (GRCm39) |
N973S |
possibly damaging |
Het |
| Or4f62 |
G |
A |
2: 111,986,787 (GRCm39) |
V164I |
probably benign |
Het |
| Or51a43 |
G |
A |
7: 103,717,675 (GRCm39) |
R188* |
probably null |
Het |
| Or6c212 |
T |
C |
10: 129,558,652 (GRCm39) |
I254V |
probably benign |
Het |
| Or9g19 |
A |
T |
2: 85,600,322 (GRCm39) |
Y59F |
probably damaging |
Het |
| Pkdrej |
C |
A |
15: 85,701,773 (GRCm39) |
E1388* |
probably null |
Het |
| Prrc2b |
T |
A |
2: 32,106,067 (GRCm39) |
D1482E |
probably benign |
Het |
| Relch |
C |
T |
1: 105,673,851 (GRCm39) |
S1080L |
possibly damaging |
Het |
| Tespa1 |
A |
G |
10: 130,197,944 (GRCm39) |
D322G |
probably damaging |
Het |
| Tmcc2 |
C |
T |
1: 132,288,569 (GRCm39) |
V373M |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,644,517 (GRCm39) |
N13079S |
possibly damaging |
Het |
| Wdr53 |
A |
G |
16: 32,071,008 (GRCm39) |
I118V |
probably benign |
Het |
| Zdbf2 |
T |
C |
1: 63,344,774 (GRCm39) |
M1051T |
probably benign |
Het |
| Zfp784 |
G |
C |
7: 5,041,357 (GRCm39) |
|
probably benign |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTCCTGAAGGCTGATTTCTC -3'
(R):5'- TTGGGAAGAGACTTACTGGTTC -3'
Sequencing Primer
(F):5'- GAAGGCTGATTTCTCTTTTACCC -3'
(R):5'- GGAAGAGACTTACTGGTTCATTCTC -3'
|
| Posted On |
2014-11-12 |
Incidental Mutation