Incidental Mutation 'R6892:Sppl2a'
| ID |
538092 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sppl2a
|
| Ensembl Gene |
ENSMUSG00000027366 |
| Gene Name |
signal peptide peptidase like 2A |
| Synonyms |
C130089K23Rik, 2010106G01Rik |
| MMRRC Submission |
044986-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.081)
|
| Stock # |
R6892 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
126732311-126775155 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 126755495 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 372
(I372T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028844
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028844]
|
| AlphaFold |
Q9JJF9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000028844
AA Change: I372T
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000028844
Gene: ENSMUSG00000027366
AA Change: I372T
| 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 |
|
| SMART Domains |
Protein: ENSMUSP00000119064
Gene: ENSMUSG00000027366
AA Change: I100T
| Domain | Start | End | E-Value | Type |
|---|
|
PSN
|
3 |
233 |
1.27e-60 |
SMART |
|
| Meta Mutation Damage Score |
0.8011 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 97.6%
|
| Validation Efficiency |
96% (54/56) |
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930442H23Rik |
C |
A |
10: 81,018,978 (GRCm39) |
|
probably benign |
Het |
| 4933421I07Rik |
T |
C |
7: 42,095,831 (GRCm39) |
Q139R |
probably benign |
Het |
| A930002H24Rik |
C |
T |
17: 64,170,759 (GRCm39) |
V10M |
unknown |
Het |
| Acvr2a |
T |
A |
2: 48,787,087 (GRCm39) |
L394Q |
probably damaging |
Het |
| Ano6 |
T |
C |
15: 95,865,505 (GRCm39) |
Y830H |
probably damaging |
Het |
| Atp8b4 |
T |
A |
2: 126,184,922 (GRCm39) |
I914F |
possibly damaging |
Het |
| Bltp3b |
G |
A |
10: 89,640,985 (GRCm39) |
V719I |
probably benign |
Het |
| Cab39 |
A |
G |
1: 85,776,098 (GRCm39) |
D265G |
probably damaging |
Het |
| Capn5 |
A |
T |
7: 97,785,148 (GRCm39) |
W109R |
probably damaging |
Het |
| Cdk18 |
G |
T |
1: 132,049,848 (GRCm39) |
T44K |
probably benign |
Het |
| Cdt1 |
T |
A |
8: 123,296,951 (GRCm39) |
N248K |
probably damaging |
Het |
| Cpa4 |
G |
T |
6: 30,583,628 (GRCm39) |
R248L |
probably benign |
Het |
| Cpt1a |
G |
A |
19: 3,421,660 (GRCm39) |
V481M |
probably benign |
Het |
| Cyp3a11 |
G |
A |
5: 145,797,258 (GRCm39) |
L374F |
probably damaging |
Het |
| Dcdc2a |
A |
G |
13: 25,240,443 (GRCm39) |
N64D |
probably damaging |
Het |
| Dmxl1 |
G |
A |
18: 50,053,969 (GRCm39) |
R2525Q |
probably damaging |
Het |
| Dscaml1 |
G |
A |
9: 45,595,128 (GRCm39) |
V744M |
probably damaging |
Het |
| Dync1h1 |
G |
A |
12: 110,605,335 (GRCm39) |
E2391K |
probably benign |
Het |
| Ezh1 |
A |
T |
11: 101,090,187 (GRCm39) |
Y522* |
probably null |
Het |
| Fzd3 |
G |
C |
14: 65,447,330 (GRCm39) |
A533G |
possibly damaging |
Het |
| Gm14403 |
T |
G |
2: 177,201,040 (GRCm39) |
C329G |
probably damaging |
Het |
| Gm17067 |
A |
C |
7: 42,360,099 (GRCm39) |
|
probably null |
Het |
| Gm38119 |
A |
G |
3: 92,645,529 (GRCm39) |
C22R |
unknown |
Het |
| Grep1 |
A |
G |
17: 23,931,328 (GRCm39) |
L193P |
probably damaging |
Het |
| Gtf3c3 |
A |
G |
1: 54,455,100 (GRCm39) |
S588P |
probably benign |
Het |
| Ift140 |
A |
G |
17: 25,239,520 (GRCm39) |
E59G |
possibly damaging |
Het |
| Ints1 |
A |
T |
5: 139,753,583 (GRCm39) |
M683K |
probably damaging |
Het |
| Iws1 |
A |
G |
18: 32,219,327 (GRCm39) |
M470V |
probably damaging |
Het |
| Mptx1 |
A |
G |
1: 174,159,831 (GRCm39) |
R46G |
probably benign |
Het |
| Nhsl1 |
C |
T |
10: 18,400,091 (GRCm39) |
T439I |
probably damaging |
Het |
| Or10a49 |
A |
G |
7: 108,467,722 (GRCm39) |
L213P |
probably damaging |
Het |
| Peg3 |
C |
T |
7: 6,711,898 (GRCm39) |
S1108N |
possibly damaging |
Het |
| Pgm1 |
A |
G |
4: 99,786,905 (GRCm39) |
E48G |
probably benign |
Het |
| Pkhd1 |
G |
A |
1: 20,593,739 (GRCm39) |
T1458I |
probably damaging |
Het |
| Polr1a |
A |
T |
6: 71,941,696 (GRCm39) |
D1068V |
possibly damaging |
Het |
| Ptprq |
T |
C |
10: 107,411,865 (GRCm39) |
T1834A |
probably benign |
Het |
| Rapgef1 |
T |
C |
2: 29,589,852 (GRCm39) |
|
probably null |
Het |
| Rgl1 |
A |
T |
1: 152,415,691 (GRCm39) |
D409E |
probably benign |
Het |
| Rgsl1 |
G |
T |
1: 153,697,245 (GRCm39) |
Y558* |
probably null |
Het |
| Rock1 |
C |
T |
18: 10,122,612 (GRCm39) |
R403H |
probably benign |
Het |
| Scn11a |
T |
A |
9: 119,636,035 (GRCm39) |
D304V |
possibly damaging |
Het |
| Sdk1 |
A |
T |
5: 142,032,053 (GRCm39) |
I1043F |
probably benign |
Het |
| Sgms2 |
A |
G |
3: 131,135,803 (GRCm39) |
Y24H |
probably benign |
Het |
| Sptbn1 |
A |
G |
11: 30,092,187 (GRCm39) |
M526T |
probably benign |
Het |
| Stxbp5l |
A |
T |
16: 37,008,991 (GRCm39) |
S683T |
possibly damaging |
Het |
| Syk |
A |
T |
13: 52,786,934 (GRCm39) |
R332S |
probably benign |
Het |
| Syne2 |
T |
A |
12: 76,009,302 (GRCm39) |
V2401E |
probably damaging |
Het |
| Tarm1 |
T |
C |
7: 3,546,006 (GRCm39) |
Y87C |
probably damaging |
Het |
| Tbc1d22b |
A |
G |
17: 29,814,864 (GRCm39) |
K378E |
possibly damaging |
Het |
| Tcte1 |
A |
G |
17: 45,844,083 (GRCm39) |
T20A |
probably benign |
Het |
| Tor1aip2 |
A |
T |
1: 155,940,927 (GRCm39) |
Y411F |
possibly damaging |
Het |
| Trim43c |
T |
A |
9: 88,726,977 (GRCm39) |
M267K |
probably benign |
Het |
| Ubr2 |
T |
G |
17: 47,245,034 (GRCm39) |
Y1664S |
probably damaging |
Het |
| Vmn1r41 |
C |
A |
6: 89,724,163 (GRCm39) |
Q235K |
possibly damaging |
Het |
| Wdr17 |
T |
C |
8: 55,126,631 (GRCm39) |
T401A |
probably damaging |
Het |
| Zfp454 |
A |
G |
11: 50,764,025 (GRCm39) |
L469P |
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 |
|
|
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 |
|
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'- TCATTCTAGGATGAAACCCAAGTC -3'
(R):5'- CTCCAGTGAAGTGAAGTGGTG -3'
Sequencing Primer
(F):5'- TCTAGGATGAAACCCAAGTCAATAG -3'
(R):5'- CAGTGAAGTGAAGTGGTGTGCTATC -3'
|
| Posted On |
2018-11-06 |
Incidental Mutation