Incidental Mutation 'R8367:Sppl2b'
| ID |
646222 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sppl2b
|
| Ensembl Gene |
ENSMUSG00000035206 |
| Gene Name |
signal peptide peptidase like 2B |
| Synonyms |
3110056O03Rik |
| MMRRC Submission |
067874-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.893)
|
| Stock # |
R8367 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
80691109-80704542 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 80699025 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 198
(H198L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000036289
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035597]
[ENSMUST00000220091]
|
| AlphaFold |
Q3TD49 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000035597
AA Change: H198L
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000036289
Gene: ENSMUSG00000035206
AA Change: H198L
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
low complexity region
|
25 |
36 |
N/A |
INTRINSIC |
|
Pfam:PA
|
55 |
147 |
5.5e-14 |
PFAM |
|
transmembrane domain
|
167 |
189 |
N/A |
INTRINSIC |
|
PSN
|
210 |
485 |
2.16e-113 |
SMART |
|
low complexity region
|
520 |
531 |
N/A |
INTRINSIC |
|
| Predicted Effect |
|
| Predicted Effect |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219951
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000220091
AA Change: H46L
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| Meta Mutation Damage Score |
0.0636 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.0%
|
| Validation Efficiency |
100% (38/38) |
| 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. The GXGD proteases are transmembrane proteins with two conserved catalytic motifs localized within the membrane-spanning regions. This enzyme localizes to endosomes, lysosomes, and the plasma membrane. It cleaves the transmembrane domain of tumor necrosis factor alpha to release the intracellular domain, which triggers cytokine expression in the innate and adaptive immunity pathways. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a gene trapped allele are viable and overtly normal with no apparent defects in B cell and dendritic cell homeostasis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6820408C15Rik |
G |
A |
2: 152,284,417 (GRCm39) |
|
probably null |
Het |
| 8030423J24Rik |
A |
T |
13: 71,032,096 (GRCm39) |
E56V |
unknown |
Het |
| Abcb1a |
A |
G |
5: 8,736,221 (GRCm39) |
T205A |
probably benign |
Het |
| Aplp2 |
T |
C |
9: 31,089,202 (GRCm39) |
E93G |
probably damaging |
Het |
| Arpin |
T |
A |
7: 79,579,386 (GRCm39) |
N79I |
possibly damaging |
Het |
| Atg7 |
T |
A |
6: 114,663,060 (GRCm39) |
D225E |
probably benign |
Het |
| Bltp3b |
T |
A |
10: 89,641,239 (GRCm39) |
D803E |
probably damaging |
Het |
| Cc2d2b |
A |
G |
19: 40,754,419 (GRCm39) |
M229V |
unknown |
Het |
| Cep295 |
C |
T |
9: 15,245,826 (GRCm39) |
V877I |
probably benign |
Het |
| Clca3a2 |
A |
T |
3: 144,523,508 (GRCm39) |
|
probably null |
Het |
| Cmip |
C |
T |
8: 118,163,610 (GRCm39) |
P359L |
probably benign |
Het |
| Cyb5rl |
A |
G |
4: 106,928,146 (GRCm39) |
Y94C |
probably benign |
Het |
| Cyp19a1 |
A |
G |
9: 54,087,543 (GRCm39) |
I125T |
probably damaging |
Het |
| Cyp2c54 |
T |
G |
19: 40,062,125 (GRCm39) |
Q44P |
probably damaging |
Het |
| Cyp2c67 |
A |
T |
19: 39,627,118 (GRCm39) |
H237Q |
probably benign |
Het |
| Dlgap2 |
A |
T |
8: 14,893,544 (GRCm39) |
Y953F |
probably benign |
Het |
| Hgfac |
G |
T |
5: 35,202,790 (GRCm39) |
C430F |
probably damaging |
Het |
| Kdm4b |
T |
C |
17: 56,662,875 (GRCm39) |
W149R |
probably damaging |
Het |
| Krt23 |
C |
T |
11: 99,383,715 (GRCm39) |
W59* |
probably null |
Het |
| Lfng |
G |
A |
5: 140,598,981 (GRCm39) |
E297K |
probably damaging |
Het |
| Lrrc7 |
T |
A |
3: 157,908,007 (GRCm39) |
Q271L |
possibly damaging |
Het |
| Ltc4s |
C |
A |
11: 50,127,511 (GRCm39) |
R108L |
possibly damaging |
Het |
| Mcm3ap |
T |
C |
10: 76,313,693 (GRCm39) |
S596P |
possibly damaging |
Het |
| Myot |
A |
G |
18: 44,470,166 (GRCm39) |
T48A |
probably benign |
Het |
| Mypn |
G |
C |
10: 62,971,539 (GRCm39) |
P834A |
probably damaging |
Het |
| Or5d16 |
T |
C |
2: 87,773,441 (GRCm39) |
N177S |
possibly damaging |
Het |
| Or8k30 |
C |
T |
2: 86,339,025 (GRCm39) |
S74L |
probably damaging |
Het |
| Parp14 |
T |
C |
16: 35,678,124 (GRCm39) |
K615E |
probably benign |
Het |
| Pramel6 |
A |
C |
2: 87,340,814 (GRCm39) |
Q382P |
probably damaging |
Het |
| Prdx2 |
A |
G |
8: 85,698,244 (GRCm39) |
D145G |
probably damaging |
Het |
| Prune1 |
A |
G |
3: 95,172,837 (GRCm39) |
V76A |
probably benign |
Het |
| Ttll9 |
C |
A |
2: 152,836,068 (GRCm39) |
H271N |
probably benign |
Het |
| Vmn2r59 |
C |
A |
7: 41,661,247 (GRCm39) |
R856M |
probably benign |
Het |
| Yeats2 |
C |
T |
16: 20,041,575 (GRCm39) |
T1155I |
probably damaging |
Het |
| Zbbx |
A |
G |
3: 74,989,034 (GRCm39) |
|
probably null |
Het |
| Zfp160 |
A |
G |
17: 21,245,804 (GRCm39) |
D118G |
probably benign |
Het |
| Zfp366 |
A |
G |
13: 99,380,551 (GRCm39) |
M549V |
possibly damaging |
Het |
| Zp3r |
A |
G |
1: 130,526,610 (GRCm39) |
S198P |
probably damaging |
Het |
|
| Other mutations in Sppl2b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00950:Sppl2b
|
APN |
10 |
80,699,928 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01835:Sppl2b
|
APN |
10 |
80,701,175 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01836:Sppl2b
|
APN |
10 |
80,697,220 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01964:Sppl2b
|
APN |
10 |
80,701,220 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02376:Sppl2b
|
APN |
10 |
80,703,432 (GRCm39) |
nonsense |
probably null |
|
|
R1641:Sppl2b
|
UTSW |
10 |
80,700,965 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2228:Sppl2b
|
UTSW |
10 |
80,701,451 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3104:Sppl2b
|
UTSW |
10 |
80,703,325 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3106:Sppl2b
|
UTSW |
10 |
80,703,325 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4350:Sppl2b
|
UTSW |
10 |
80,698,560 (GRCm39) |
missense |
probably benign |
0.12 |
|
R5146:Sppl2b
|
UTSW |
10 |
80,703,474 (GRCm39) |
makesense |
probably null |
|
|
R5698:Sppl2b
|
UTSW |
10 |
80,701,879 (GRCm39) |
splice site |
probably null |
|
|
R6969:Sppl2b
|
UTSW |
10 |
80,700,959 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7649:Sppl2b
|
UTSW |
10 |
80,703,253 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8212:Sppl2b
|
UTSW |
10 |
80,701,193 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8263:Sppl2b
|
UTSW |
10 |
80,701,903 (GRCm39) |
frame shift |
probably null |
|
|
R8265:Sppl2b
|
UTSW |
10 |
80,701,903 (GRCm39) |
frame shift |
probably null |
|
|
R8398:Sppl2b
|
UTSW |
10 |
80,701,903 (GRCm39) |
frame shift |
probably null |
|
|
R8398:Sppl2b
|
UTSW |
10 |
80,701,902 (GRCm39) |
frame shift |
probably null |
|
|
R8400:Sppl2b
|
UTSW |
10 |
80,701,903 (GRCm39) |
frame shift |
probably null |
|
|
R8480:Sppl2b
|
UTSW |
10 |
80,701,903 (GRCm39) |
frame shift |
probably null |
|
|
R8481:Sppl2b
|
UTSW |
10 |
80,701,903 (GRCm39) |
frame shift |
probably null |
|
|
R8505:Sppl2b
|
UTSW |
10 |
80,701,903 (GRCm39) |
frame shift |
probably null |
|
|
R8817:Sppl2b
|
UTSW |
10 |
80,701,903 (GRCm39) |
frame shift |
probably null |
|
|
R8818:Sppl2b
|
UTSW |
10 |
80,701,903 (GRCm39) |
frame shift |
probably null |
|
|
R8832:Sppl2b
|
UTSW |
10 |
80,701,903 (GRCm39) |
frame shift |
probably null |
|
|
R9175:Sppl2b
|
UTSW |
10 |
80,698,807 (GRCm39) |
missense |
probably benign |
|
|
R9624:Sppl2b
|
UTSW |
10 |
80,699,373 (GRCm39) |
missense |
probably benign |
0.03 |
|
Z1176:Sppl2b
|
UTSW |
10 |
80,703,259 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
| Predicted Primers |
PCR Primer
(F):5'- CATCATCTTTGTCATGGCCGTG -3'
(R):5'- CAATGATCACGTAGACTGCGGG -3'
Sequencing Primer
(F):5'- TGAGTACAGCTGACTCCA -3'
(R):5'- TATGGCCCCTAGGTCCTTGG -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation