Incidental Mutation 'IGL02694:Psmb2'
| ID |
303863 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Psmb2
|
| Ensembl Gene |
ENSMUSG00000028837 |
| Gene Name |
proteasome (prosome, macropain) subunit, beta type 2 |
| Synonyms |
HC7-I, D4Wsu33e |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.962)
|
| Stock # |
IGL02694
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
126571423-126603507 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 126603351 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 193
(N193S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030642
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030642]
|
| AlphaFold |
Q9R1P3 |
| PDB Structure |
Mouse constitutive 20S proteasome in complex with PR-957 [X-RAY DIFFRACTION]
Mouse constitutive 20S proteasome [X-RAY DIFFRACTION]
Mouse 20S immunoproteasome in complex with PR-957 [X-RAY DIFFRACTION]
Mouse 20S immunoproteasome [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030642
AA Change: N193S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000030642
Gene: ENSMUSG00000028837
AA Change: N193S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Proteasome
|
3 |
183 |
2.3e-42 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150372
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a member of the proteasome B-type family, also known as the T1B family, that is a 20S core beta subunit. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Dec 2010]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acer3 |
A |
G |
7: 97,866,084 (GRCm39) |
I213T |
probably benign |
Het |
| Alox8 |
T |
A |
11: 69,077,455 (GRCm39) |
T432S |
probably damaging |
Het |
| Col4a3 |
T |
C |
1: 82,688,515 (GRCm39) |
|
probably benign |
Het |
| Cyp2c54 |
A |
G |
19: 40,035,987 (GRCm39) |
Y308H |
possibly damaging |
Het |
| Dscam |
A |
G |
16: 96,394,476 (GRCm39) |
V1942A |
probably benign |
Het |
| F11 |
T |
C |
8: 45,705,196 (GRCm39) |
Y115C |
probably damaging |
Het |
| Fam13b |
A |
G |
18: 34,584,259 (GRCm39) |
|
probably null |
Het |
| Gykl1 |
A |
G |
18: 52,827,257 (GRCm39) |
H155R |
probably benign |
Het |
| Lmo7 |
T |
A |
14: 102,124,606 (GRCm39) |
V355D |
probably damaging |
Het |
| Lrtm2 |
T |
A |
6: 119,297,846 (GRCm39) |
D65V |
possibly damaging |
Het |
| Ly6g6f |
C |
T |
17: 35,300,144 (GRCm39) |
V235M |
possibly damaging |
Het |
| Mlxipl |
G |
A |
5: 135,152,872 (GRCm39) |
|
probably null |
Het |
| Or11j4 |
A |
G |
14: 50,630,257 (GRCm39) |
I15V |
probably benign |
Het |
| Or13a20 |
A |
G |
7: 140,232,093 (GRCm39) |
N67S |
probably damaging |
Het |
| Or14a256 |
C |
T |
7: 86,265,518 (GRCm39) |
V112I |
probably benign |
Het |
| Ppp2r1a |
A |
G |
17: 21,171,702 (GRCm39) |
|
probably benign |
Het |
| Rassf2 |
A |
T |
2: 131,851,641 (GRCm39) |
Y34N |
possibly damaging |
Het |
| Ryr2 |
A |
G |
13: 11,620,075 (GRCm39) |
F3841L |
probably damaging |
Het |
| Skint2 |
A |
G |
4: 112,473,792 (GRCm39) |
|
probably benign |
Het |
| Spdl1 |
T |
C |
11: 34,704,448 (GRCm39) |
I462V |
probably benign |
Het |
| Spopfm1 |
A |
G |
3: 94,173,459 (GRCm39) |
M152V |
probably benign |
Het |
| Tlk2 |
A |
G |
11: 105,112,061 (GRCm39) |
E138G |
probably benign |
Het |
| Vmn1r89 |
A |
G |
7: 12,954,056 (GRCm39) |
E196G |
probably benign |
Het |
| Zfp142 |
A |
G |
1: 74,609,307 (GRCm39) |
L1496P |
probably damaging |
Het |
| Zfp689 |
T |
C |
7: 127,047,573 (GRCm39) |
D94G |
possibly damaging |
Het |
| Zfp944 |
A |
G |
17: 22,558,899 (GRCm39) |
V116A |
probably benign |
Het |
|
| Other mutations in Psmb2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00557:Psmb2
|
APN |
4 |
126,571,642 (GRCm39) |
splice site |
probably null |
|
|
IGL00899:Psmb2
|
APN |
4 |
126,601,350 (GRCm39) |
missense |
probably benign |
0.08 |
|
IGL01089:Psmb2
|
APN |
4 |
126,577,999 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01373:Psmb2
|
APN |
4 |
126,580,885 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0811:Psmb2
|
UTSW |
4 |
126,601,350 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R0812:Psmb2
|
UTSW |
4 |
126,601,350 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R1295:Psmb2
|
UTSW |
4 |
126,580,825 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1296:Psmb2
|
UTSW |
4 |
126,580,825 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1472:Psmb2
|
UTSW |
4 |
126,580,825 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3420:Psmb2
|
UTSW |
4 |
126,571,630 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R3421:Psmb2
|
UTSW |
4 |
126,571,630 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R3422:Psmb2
|
UTSW |
4 |
126,571,630 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4663:Psmb2
|
UTSW |
4 |
126,571,558 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5536:Psmb2
|
UTSW |
4 |
126,578,002 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5884:Psmb2
|
UTSW |
4 |
126,578,014 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R8828:Psmb2
|
UTSW |
4 |
126,603,330 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9047:Psmb2
|
UTSW |
4 |
126,599,895 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation