Incidental Mutation 'R0023:Sppl2a'
ID |
178040 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sppl2a
|
Ensembl Gene |
ENSMUSG00000027366 |
Gene Name |
signal peptide peptidase like 2A |
Synonyms |
C130089K23Rik, 2010106G01Rik |
MMRRC Submission |
038318-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.081)
|
Stock # |
R0023 (G1)
|
Quality Score |
66 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
126732311-126775155 bp(-) (GRCm39) |
Type of Mutation |
splice site (7 bp from exon) |
DNA Base Change (assembly) |
T to A
at 126755213 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028844]
|
AlphaFold |
Q9JJF9 |
Predicted Effect |
probably null
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 |
noncoding transcript
Transcript: ENSMUST00000125592
|
Predicted Effect |
probably null
Transcript: ENSMUST00000143700
|
SMART Domains |
Protein: ENSMUSP00000119064 Gene: ENSMUSG00000027366
Domain | Start | End | E-Value | Type |
PSN
|
3 |
233 |
1.27e-60 |
SMART |
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.8%
- 20x: 96.2%
|
Validation Efficiency |
98% (59/60) |
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: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl4fm1 |
A |
C |
4: 144,255,567 (GRCm39) |
D329A |
probably damaging |
Het |
Abcc12 |
T |
A |
8: 87,264,962 (GRCm39) |
H661L |
probably damaging |
Het |
Abcg4 |
A |
G |
9: 44,186,672 (GRCm39) |
Y491H |
probably damaging |
Het |
Acsbg2 |
C |
G |
17: 57,154,710 (GRCm39) |
A481P |
probably damaging |
Het |
Aknad1 |
T |
A |
3: 108,688,501 (GRCm39) |
C610S |
probably benign |
Het |
Ang4 |
G |
T |
14: 52,001,860 (GRCm39) |
Y29* |
probably null |
Het |
Aqp11 |
A |
T |
7: 97,375,896 (GRCm39) |
I251N |
possibly damaging |
Het |
Arid1a |
G |
T |
4: 133,418,487 (GRCm39) |
T1032K |
unknown |
Het |
Atg16l1 |
T |
C |
1: 87,717,187 (GRCm39) |
V538A |
probably benign |
Het |
Bbs1 |
C |
T |
19: 4,956,042 (GRCm39) |
A44T |
probably damaging |
Het |
Bpifa3 |
A |
C |
2: 153,980,070 (GRCm39) |
H234P |
probably damaging |
Het |
Btbd9 |
A |
T |
17: 30,749,188 (GRCm39) |
V42E |
probably damaging |
Het |
Carmil3 |
C |
G |
14: 55,730,333 (GRCm39) |
S15R |
probably damaging |
Het |
Casp8ap2 |
A |
G |
4: 32,640,185 (GRCm39) |
D413G |
probably damaging |
Het |
Cfap44 |
T |
A |
16: 44,241,583 (GRCm39) |
F651L |
probably benign |
Het |
Clcn3 |
A |
T |
8: 61,386,104 (GRCm39) |
|
probably benign |
Het |
Crip3 |
A |
G |
17: 46,741,920 (GRCm39) |
K136E |
probably damaging |
Het |
Ctr9 |
G |
A |
7: 110,643,154 (GRCm39) |
A509T |
possibly damaging |
Het |
D930020B18Rik |
T |
C |
10: 121,525,726 (GRCm39) |
S367P |
probably damaging |
Het |
Dhrs11 |
A |
T |
11: 84,713,976 (GRCm39) |
L125H |
probably damaging |
Het |
Dst |
C |
T |
1: 34,228,200 (GRCm39) |
P1606L |
probably damaging |
Het |
Efcab7 |
A |
T |
4: 99,758,834 (GRCm39) |
|
probably benign |
Het |
Eif2ak4 |
A |
C |
2: 118,293,202 (GRCm39) |
S1253R |
probably damaging |
Het |
Emc1 |
A |
G |
4: 139,098,320 (GRCm39) |
D767G |
probably damaging |
Het |
Fads1 |
G |
A |
19: 10,164,261 (GRCm39) |
|
probably benign |
Het |
Fbxw26 |
T |
C |
9: 109,547,079 (GRCm39) |
T449A |
probably benign |
Het |
Frrs1 |
T |
C |
3: 116,690,437 (GRCm39) |
F27L |
probably damaging |
Het |
Fry |
T |
C |
5: 150,374,563 (GRCm39) |
S2358P |
possibly damaging |
Het |
Gas6 |
A |
C |
8: 13,520,344 (GRCm39) |
L448R |
probably damaging |
Het |
Hikeshi |
T |
C |
7: 89,569,412 (GRCm39) |
|
probably benign |
Het |
Ifngr1 |
C |
T |
10: 19,485,197 (GRCm39) |
R399* |
probably null |
Het |
Itga2 |
G |
A |
13: 115,007,032 (GRCm39) |
S432L |
possibly damaging |
Het |
Knl1 |
C |
T |
2: 118,933,030 (GRCm39) |
T2063I |
possibly damaging |
Het |
Lyzl6 |
A |
G |
11: 103,527,697 (GRCm39) |
V9A |
probably benign |
Het |
Macf1 |
A |
T |
4: 123,382,107 (GRCm39) |
|
probably benign |
Het |
Myo6 |
T |
C |
9: 80,190,816 (GRCm39) |
V789A |
possibly damaging |
Het |
Myo9b |
A |
T |
8: 71,786,412 (GRCm39) |
R693W |
probably damaging |
Het |
Nasp |
A |
G |
4: 116,462,968 (GRCm39) |
|
probably benign |
Het |
Nr1i3 |
T |
C |
1: 171,044,900 (GRCm39) |
F247L |
probably damaging |
Het |
Plekhs1 |
T |
G |
19: 56,466,948 (GRCm39) |
S260A |
probably damaging |
Het |
Rpl21-ps6 |
T |
C |
17: 56,222,536 (GRCm39) |
|
noncoding transcript |
Het |
Rtcb |
A |
T |
10: 85,785,315 (GRCm39) |
|
probably benign |
Het |
Suco |
A |
T |
1: 161,673,154 (GRCm39) |
|
probably null |
Het |
Tnn |
T |
A |
1: 159,932,498 (GRCm39) |
T1075S |
probably benign |
Het |
Traf3 |
T |
A |
12: 111,209,912 (GRCm39) |
C169* |
probably null |
Het |
Ucp3 |
G |
T |
7: 100,134,250 (GRCm39) |
V288L |
probably benign |
Het |
Ulk3 |
C |
A |
9: 57,497,639 (GRCm39) |
C4* |
probably null |
Het |
Vmn1r73 |
A |
T |
7: 11,490,997 (GRCm39) |
T272S |
probably benign |
Het |
Vmn2r115 |
G |
A |
17: 23,565,252 (GRCm39) |
E380K |
probably benign |
Het |
Vmn2r3 |
T |
A |
3: 64,182,787 (GRCm39) |
N304I |
probably damaging |
Het |
Xylt1 |
G |
T |
7: 117,233,928 (GRCm39) |
G485V |
probably damaging |
Het |
Yars1 |
A |
G |
4: 129,090,981 (GRCm39) |
T130A |
probably benign |
Het |
Zfp652 |
A |
T |
11: 95,644,295 (GRCm39) |
R205* |
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 |
|
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TATCCGACACATGGAGGGTGAACG -3'
(R):5'- CTGAACTCCAGTGAAGTGAAGTGGTG -3'
Sequencing Primer
(F):5'- GGTGAACGGTATGACTATACTTCCC -3'
(R):5'- CCTCCCTTTAGAATGGTGAGAGC -3'
|
Posted On |
2014-05-07 |